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 AAK1 0 genome.wustl.edu 37 2 69736497 69736497 + Silent SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 69736497 69736497 G T SNP AAK1 ENST00000409085 human ensembl 69_37n -1 known silent c.1872 p.S624 0.999 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors AAK1 HGNC ENSG00000115977 68 0 0.00 56 14 20.00 - - - ABCA12 0 genome.wustl.edu 37 2 215851424 215851424 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 215851424 215851424 G A SNP ABCA12 ENST00000272895 human ensembl 69_37n -1 known silent c.4005 p.I1335 0.994 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 116 0 0.00 113 18 13.64 - - - ABCA6 0 genome.wustl.edu 37 17 67102267 67102267 + Silent SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 67102267 67102267 T C SNP ABCA6 ENST00000284425 human ensembl 69_37n -1 known silent c.2475 p.T825 0.002 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA6 HGNC ENSG00000154262 163 0 0.00 110 72 39.56 - - - ABCA8 0 genome.wustl.edu 37 17 66938107 66938107 + Frame_Shift_Del DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 66938107 66938107 T - DEL ABCA8 ENST00000430352 human ensembl 69_37n -1 known frame_shift_del c.69 p.K23fs 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA8 HGNC ENSG00000141338 160 0 0.00 170 34 16.43 - - - ABCB11 0 genome.wustl.edu 37 2 169825987 169825987 + Silent SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 169825987 169825987 A G SNP ABCB11 ENST00000263817 human ensembl 69_37n -1 known silent c.1884 p.G628 0.985 smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB11 HGNC ENSG00000073734 53 0 0.00 35 11 23.91 - - - ABCC12 0 genome.wustl.edu 37 16 48174749 48174749 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 16 48174749 48174749 A G SNP ABCC12 ENST00000311303 human ensembl 69_37n -1 known missense c.506 p.L169P 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC12 HGNC ENSG00000140798 228 0 0.00 208 53 20.31 - - - ABCC4 0 genome.wustl.edu 37 13 95725651 95725651 + RNA SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 13 95725651 95725651 G A SNP ABCC4 ENST00000474158 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors ABCC4 HGNC ENSG00000125257 63 0 0.00 91 12 11.65 - - - ABCF1 0 genome.wustl.edu 37 6 30547721 30547721 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 30547721 30547721 A G SNP ABCF1 ENST00000326195 human ensembl 69_37n +1 known missense c.503 p.E168G 0.983 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCF1 HGNC ENSG00000204574 77 0 0.00 48 28 36.84 - - - ABHD15 0 genome.wustl.edu 37 17 27889671 27889671 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 27889671 27889671 G A SNP ABHD15 ENST00000307201 human ensembl 69_37n -1 known missense c.1315 p.R439C 1.000 NULL pirsf_AB-Hydro_YheT - no_errors ABHD15 HGNC ENSG00000168792 43 0 0.00 19 7 26.92 - - - ACAD9 0 genome.wustl.edu 37 3 128631359 128631359 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 128631359 128631359 A G SNP ACAD9 ENST00000308982 human ensembl 69_37n +1 known missense c.1775 p.E592G 1.000 NULL pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C - no_errors ACAD9 HGNC ENSG00000177646 55 0 0.00 45 9 16.67 - - - ACAP1 0 genome.wustl.edu 37 17 7246715 7246715 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 7246715 7246715 G A SNP ACAP1 ENST00000158762 human ensembl 69_37n +1 known missense c.362 p.R121Q 1.000 pfscan_PLipase_C_PInositol-sp_X_dom pfam_ArfGAP,pfam_Pleckstrin_homology,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_ArfGAP,prints_ArfGAP - no_errors ACAP1 HGNC ENSG00000072818 44 0 0.00 41 10 19.61 - - - ACE2 0 genome.wustl.edu 37 X 15584646 15584646 + RNA DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c X 15584646 15584646 A - DEL ACE2 ENST00000473851 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors ACE2 HGNC ENSG00000130234 278 1 0.36 228 61 20.96 - - - ACIN1 0 genome.wustl.edu 37 14 23528502 23528503 + Frame_Shift_Del DEL TC TC - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 TC TC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 14 23528502 23528503 TC - DEL ACIN1 ENST00000262710 human ensembl 69_37n -1 known frame_shift_del c.3881_3880 p.E1294fs 0.413:0.452 NULL pfam_SAP_DNA-bd,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd - no_errors ACIN1 HGNC ENSG00000100813 123 1 0.81 38 10 20.41 - - - ACOT11 0 genome.wustl.edu 37 1 55060296 55060296 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 55060296 55060296 G A SNP ACOT11 ENST00000371316 human ensembl 69_37n +1 known missense c.539 p.R180H 1.000 NULL pfam_START_lipid-bd,pfam_Thioestr_supf,smart_START_lipid-bd,pfscan_START_lipid-bd - no_errors ACOT11 HGNC ENSG00000162390 29 0 0.00 16 8 33.33 - - - ACSL3 0 genome.wustl.edu 37 2 223773533 223773533 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 223773533 223773533 A G SNP ACSL3 ENST00000357430 human ensembl 69_37n +1 known missense c.43 p.K15E 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSL3 HGNC ENSG00000123983 204 0 0.00 160 98 37.98 - - - ACTA2 0 genome.wustl.edu 37 10 90700995 90700995 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 90700995 90700995 C T SNP ACTA2 ENST00000224784 human ensembl 69_37n -1 known missense c.607 p.V203I 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTA2 HGNC ENSG00000107796 82 0 0.00 45 13 22.41 - - - ACTBL2 0 genome.wustl.edu 37 5 56777574 56777574 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 56777574 56777574 G A SNP ACTBL2 ENST00000423391 human ensembl 69_37n -1 known silent c.961 p.L321 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTBL2 HGNC ENSG00000169067 149 0 0.00 75 36 32.14 - - - ACTBL2 0 genome.wustl.edu 37 5 56777838 56777838 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 56777838 56777838 C T SNP ACTBL2 ENST00000423391 human ensembl 69_37n -1 known missense c.697 p.A233T 0.942 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTBL2 HGNC ENSG00000169067 104 0 0.00 98 34 25.76 - - - ACTL8 0 genome.wustl.edu 37 1 18149744 18149744 + Missense_Mutation SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 18149744 18149744 C A SNP ACTL8 ENST00000375406 human ensembl 69_37n +1 known missense c.241 p.L81I 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTL8 HGNC ENSG00000117148 63 0 0.00 62 12 16.22 - - - ACTN4 0 genome.wustl.edu 37 19 39207906 39207906 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 39207906 39207906 C T SNP ACTN4 ENST00000252699 human ensembl 69_37n +1 known missense c.1093 p.R365C 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors ACTN4 HGNC ENSG00000130402 32 0 0.00 17 6 26.09 - - - ADAL 0 genome.wustl.edu 37 15 43639255 43639255 + Silent SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 15 43639255 43639255 T C SNP ADAL ENST00000422466 human ensembl 69_37n +1 known silent c.594 p.A198 1.000 pfam_A/AMP_deaminase_dom pfam_A/AMP_deaminase_dom - no_errors ADAL HGNC ENSG00000168803 128 0 0.00 75 24 24.24 - - - ADAMTS12 0 genome.wustl.edu 37 5 33881193 33881193 + RNA SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 33881193 33881193 A G SNP ADAMTS12 ENST00000509762 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors ADAMTS12 HGNC ENSG00000151388 143 1 0.69 142 34 19.32 - - - ADAMTS5 0 genome.wustl.edu 37 21 28315781 28315781 + Silent SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 21 28315781 28315781 G T SNP ADAMTS5 ENST00000284987 human ensembl 69_37n -1 known silent c.1323 p.S441 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS5 HGNC ENSG00000154736 41 0 0.00 39 17 30.36 - - - ADARB1 0 genome.wustl.edu 37 21 46554673 46554673 + RNA SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 21 46554673 46554673 G A SNP ADARB1 ENST00000460734 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors ADARB1 HGNC ENSG00000197381 13 0 0.00 5 4 44.44 - - - ADCY4 0 genome.wustl.edu 37 14 24799203 24799203 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 14 24799203 24799203 G A SNP ADCY4 ENST00000554781 human ensembl 69_37n -1 known missense c.1112 p.A371V 0.483 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY4 HGNC ENSG00000129467 73 0 0.00 29 14 32.56 - - - ADCY9 0 genome.wustl.edu 37 16 4042211 4042211 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 16 4042211 4042211 G A SNP ADCY9 ENST00000294016 human ensembl 69_37n -1 known silent c.2143 p.L715 0.910 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ENSG00000162104 86 0 0.00 53 10 15.87 - - - ADRA1B 0 genome.wustl.edu 37 5 159344245 159344245 + Missense_Mutation SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 159344245 159344245 G T SNP ADRA1B ENST00000306675 human ensembl 69_37n +1 known missense c.333 p.W111C 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Adrnrgc_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Adrene_rcpt_A1B,prints_7TM_GPCR_Rhodpsn,prints_Adrnrgc_rcpt - no_errors ADRA1B HGNC ENSG00000170214 70 0 0.00 30 9 23.08 - - - AEN 0 genome.wustl.edu 37 15 89169793 89169793 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 15 89169793 89169793 T C SNP AEN ENST00000379231 human ensembl 69_37n +1 known missense c.353 p.V118A 1.000 pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors AEN HGNC ENSG00000181026 39 0 0.00 10 6 35.29 - - - AFP 0 genome.wustl.edu 37 4 74313371 74313372 + Frame_Shift_Ins INS - - A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 74313371 74313372 - A INS AFP ENST00000395792 human ensembl 69_37n +1 known frame_shift_ins c.1036_1037 p.N348fs 0.903:0.959 pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin_subgr,prints_Alpha-fetoprotein pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin_subgr,prints_Alpha-fetoprotein,prints_Serum_albumin - no_errors AFP HGNC ENSG00000081051 71 0 0.00 80 11 12.09 - - - AGAP6 0 genome.wustl.edu 37 10 51769654 51769654 + Missense_Mutation SNP A A T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 51769654 51769654 A T SNP AGAP6 ENST00000374056 human ensembl 69_37n +1 known missense c.1769 p.Q590L 1.000 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP6 HGNC ENSG00000204149 79 0 0.00 59 9 13.24 - - - AGGF1 0 genome.wustl.edu 37 5 76358967 76358967 + Frame_Shift_Del DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 76358967 76358967 A - DEL AGGF1 ENST00000312916 human ensembl 69_37n +1 known frame_shift_del c.2035 p.N681fs 1.000 NULL pfam_FHA_dom,pfam_G_patch_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_G_patch_dom,pfscan_FHA_dom,pfscan_G_patch_dom - no_errors AGGF1 HGNC ENSG00000164252 207 0 0.00 116 87 41.43 - - - AGMO 0 genome.wustl.edu 37 7 15425184 15425184 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 7 15425184 15425184 T C SNP AGMO ENST00000342526 human ensembl 69_37n -1 known missense c.961 p.T321A 0.919 NULL pfam_Fatty_acid_hydroxylase - no_errors AGMO HGNC ENSG00000187546 92 0 0.00 87 13 13.00 - - - AHCYL1 0 genome.wustl.edu 37 1 110561664 110561664 + RNA SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 110561664 110561664 C T SNP AHCYL1 ENST00000469401 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors AHCYL1 HGNC ENSG00000168710 135 0 0.00 64 22 25.58 - - - AHI1 0 genome.wustl.edu 37 6 135776913 135776913 + Nonsense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 135776913 135776913 G A SNP AHI1 ENST00000265602 human ensembl 69_37n -1 known nonsense c.1303 p.R435* 1.000 NULL pfam_WD40_repeat,pfam_SH3_domain,pfam_SH3_2,superfamily_WD40_repeat_dom,superfamily_SH3_domain,smart_WD40_repeat,smart_SH3_domain,pfscan_SH3_domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_SH3_domain - no_errors AHI1 HGNC ENSG00000135541 16 0 0.00 16 5 23.81 - - - ALAS1 0 genome.wustl.edu 37 3 52248109 52248109 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 52248109 52248109 C T SNP ALAS1 ENST00000493402 human ensembl 69_37n +1 novel missense c.626 p.A209V 1.000 NULL pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ALAS1 HGNC ENSG00000023330 154 0 0.00 46 42 47.73 - - - ALDH1L1 0 genome.wustl.edu 37 3 125876306 125876306 + Nonsense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 125876306 125876306 C T SNP ALDH1L1 ENST00000393434 human ensembl 69_37n -1 known nonsense c.408 p.W136* 1.000 pfam_Formyl_transf_N,superfamily_Formyl_transf_N,pirsf_10_FTHF_DH pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L1 HGNC ENSG00000144908 82 0 0.00 70 16 18.60 - - - ALDH1L2 0 genome.wustl.edu 37 12 105420412 105420412 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 105420412 105420412 G A SNP ALDH1L2 ENST00000258494 human ensembl 69_37n -1 known missense c.2627 p.A876V 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_10_FTHF_DH pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L2 HGNC ENSG00000136010 479 0 0.00 351 84 19.31 - - - ALDH3B1 0 genome.wustl.edu 37 11 67787216 67787216 + RNA SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 67787216 67787216 G A SNP ALDH3B1 ENST00000007633 human ensembl 69_37n +1 known rna NULL NULL 0.481 - - - no_errors ALDH3B1 HGNC ENSG00000006534 53 0 0.00 35 4 10.26 - - - ALDH5A1 0 genome.wustl.edu 37 6 24532384 24532384 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 24532384 24532384 G A SNP ALDH5A1 ENST00000348925 human ensembl 69_37n +1 known missense c.1420 p.A474T 0.988 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_Succ_semiAld_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_Succ_semiAld_DH - no_errors ALDH5A1 HGNC ENSG00000112294 50 0 0.00 48 8 14.29 - - - ALDOC 0 genome.wustl.edu 37 17 26902486 26902486 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 26902486 26902486 C T SNP ALDOC ENST00000226253 human ensembl 69_37n -1 known missense c.65 p.R22Q 1.000 pfam_Aldolase_I pfam_Aldolase_I - no_errors ALDOC HGNC ENSG00000109107 67 0 0.00 57 11 16.18 - - - ALG5 0 genome.wustl.edu 37 13 37539835 37539835 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 13 37539835 37539835 T C SNP ALG5 ENST00000239891 human ensembl 69_37n -1 known missense c.650 p.Y217C 1.000 NULL pfam_Glyco_trans_2 - no_errors ALG5 HGNC ENSG00000120697 241 0 0.00 246 64 20.65 - - - ALK 0 genome.wustl.edu 37 2 29462561 29462561 + Missense_Mutation SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 29462561 29462561 C A SNP ALK ENST00000389048 human ensembl 69_37n -1 known missense c.2340 p.E780D 0.983 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ALK HGNC ENSG00000171094 56 0 0.00 36 7 16.28 - - - ALOX15B 0 genome.wustl.edu 37 17 7951114 7951114 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 7951114 7951114 C T SNP ALOX15B ENST00000380183 human ensembl 69_37n +1 known missense c.1732 p.P578S 1.000 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C - no_errors ALOX15B HGNC ENSG00000179593 60 0 0.00 29 11 27.50 - - - ANK3 0 genome.wustl.edu 37 10 61834861 61834863 + In_Frame_Del DEL CTC CTC - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 61834861 61834863 CTC - DEL ANK3 ENST00000280772 human ensembl 69_37n -1 known in_frame_del c.5778_5776 p.E1926in_frame_del 1.000:1.000:1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 146 0 0.00 75 52 40.94 - - - ANKLE2 0 genome.wustl.edu 37 12 133306759 133306759 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 133306759 133306759 C T SNP ANKLE2 ENST00000357997 human ensembl 69_37n -1 known silent c.1989 p.P663 0.000 NULL pfam_LEM,superfamily_LEM-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ribosomal_L9/RNase_H1_N,pfscan_LEM - no_errors ANKLE2 HGNC ENSG00000176915 13 0 0.00 14 7 33.33 - - - ANKRD11 0 genome.wustl.edu 37 16 89351379 89351379 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 16 89351379 89351379 G A SNP ANKRD11 ENST00000301030 human ensembl 69_37n -1 known missense c.1571 p.S524L 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 41 0 0.00 9 4 28.57 - - - ANKRD12 0 genome.wustl.edu 37 18 9256207 9256207 + Frame_Shift_Del DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 18 9256207 9256207 A - DEL ANKRD12 ENST00000262126 human ensembl 69_37n +1 known frame_shift_del c.2942 p.K983fs 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD12 HGNC ENSG00000101745 268 1 0.37 219 47 17.15 - - - ANKRD17 0 genome.wustl.edu 37 4 74005556 74005556 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 74005556 74005556 T C SNP ANKRD17 ENST00000358602 human ensembl 69_37n -1 known missense c.2777 p.Y926C 1.000 pfscan_Ankyrin_rpt-contain_dom 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_errors ANKRD17 HGNC ENSG00000132466 206 0 0.00 202 31 13.30 - - - ANKRD26 0 genome.wustl.edu 37 10 27355175 27355175 + RNA DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 27355175 27355175 T - DEL ANKRD26 ENST00000473304 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors ANKRD26 HGNC ENSG00000107890 8 0 0.00 10 3 21.43 - - - ANKS6 0 genome.wustl.edu 37 9 101518763 101518763 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 101518763 101518763 C T SNP ANKS6 ENST00000444472 human ensembl 69_37n -1 putative missense c.673 p.V225I 0.995 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ANKS6 HGNC ENSG00000165138 93 0 0.00 65 29 30.85 - - - ANKS6 0 genome.wustl.edu 37 9 101546393 101546393 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 101546393 101546393 G A SNP ANKS6 ENST00000375018 human ensembl 69_37n -1 known silent c.954 p.H318 0.678 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS6 HGNC ENSG00000165138 68 0 0.00 28 20 41.67 - - - ANO10 0 genome.wustl.edu 37 3 43618203 43618203 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 43618203 43618203 G A SNP ANO10 ENST00000292246 human ensembl 69_37n -1 known silent c.1143 p.A381 0.001 pfam_Anoctamin pfam_Anoctamin - no_errors ANO10 HGNC ENSG00000160746 104 0 0.00 57 7 10.94 - - - ANP32B 0 genome.wustl.edu 37 9 100773651 100773651 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 100773651 100773651 G A SNP ANP32B ENST00000339399 human ensembl 69_37n +1 known missense c.616 p.D206N 1.000 NULL smart_U2A'_phosphoprotein32A_C - no_errors ANP32B HGNC ENSG00000136938 30 0 0.00 12 9 42.86 - - - ANXA2R 0 genome.wustl.edu 37 5 43039621 43039621 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 43039621 43039621 C T SNP ANXA2R ENST00000314890 human ensembl 69_37n -1 known silent c.528 p.A176 0.000 NULL NULL - no_errors ANXA2R HGNC ENSG00000177721 113 0 0.00 118 16 11.94 - - - ANXA7 0 genome.wustl.edu 37 10 75147509 75147509 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 75147509 75147509 C T SNP ANXA7 ENST00000372919 human ensembl 69_37n -1 known missense c.637 p.A213T 0.968 pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinIV pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinVII,prints_AnnexinIV - no_errors ANXA7 HGNC ENSG00000138279 337 0 0.00 254 43 14.48 - - - AP3B1 0 genome.wustl.edu 37 5 77334907 77334907 + Frame_Shift_Del DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 77334907 77334907 T - DEL AP3B1 ENST00000255194 human ensembl 69_37n -1 known frame_shift_del c.2769 p.K923fs 0.419 pirsf_AP3_complex_bsu pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_bsu - no_errors AP3B1 HGNC ENSG00000132842 146 0 0.00 80 54 39.42 - - - AP4B1 0 genome.wustl.edu 37 1 114440240 114440240 + RNA SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 114440240 114440240 A G SNP AP4B1 ENST00000462591 human ensembl 69_37n -1 known rna NULL NULL 0.004 - - - no_errors AP4B1 HGNC ENSG00000134262 21 0 0.00 4 7 63.64 - - - APBB1 0 genome.wustl.edu 37 11 6432092 6432092 + Missense_Mutation SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 6432092 6432092 C A SNP APBB1 ENST00000389906 human ensembl 69_37n -1 known missense c.486 p.E162D 0.889 NULL pfam_PTyr_interaction_dom,pfam_WW_Rsp5_WWP,pfam_PTB,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_WW_Rsp5_WWP - no_errors APBB1 HGNC ENSG00000166313 114 0 0.00 89 14 13.59 - - - APOBR 0 genome.wustl.edu 37 16 28508718 28508719 + Frame_Shift_Ins INS - - T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 16 28508718 28508719 - T INS APOBR ENST00000564831 human ensembl 69_37n +1 known frame_shift_ins c.2356_2357 p.G787fs 0.000:0.000 NULL NULL - no_errors APOBR HGNC ENSG00000184730 58 0 0.00 56 16 22.22 - - - APPBP2 0 genome.wustl.edu 37 17 58539146 58539146 + RNA DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 58539146 58539146 A - DEL APPBP2 ENST00000592995 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors APPBP2 HGNC ENSG00000062725 93 0 0.00 91 53 35.57 - - - ARAF 0 genome.wustl.edu 37 X 47426421 47426421 + Frame_Shift_Del DEL G G - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c X 47426421 47426421 G - DEL ARAF ENST00000377045 human ensembl 69_37n +1 known frame_shift_del c.764 p.S257fs 0.192 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors ARAF HGNC ENSG00000078061 38 0 0.00 14 5 23.81 - - - ARHGAP11A 0 genome.wustl.edu 37 15 32929873 32929873 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 15 32929873 32929873 A G SNP ARHGAP11A ENST00000361627 human ensembl 69_37n +1 known missense c.2899 p.N967D 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP11A HGNC ENSG00000198826 111 0 0.00 89 25 21.93 - - - ARHGAP18 0 genome.wustl.edu 37 6 129950558 129950558 + Silent SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 129950558 129950558 A G SNP ARHGAP18 ENST00000275189 human ensembl 69_37n -1 known silent c.726 p.N242 0.969 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP18 HGNC ENSG00000146376 135 0 0.00 135 23 14.56 - - - ARHGAP25 0 genome.wustl.edu 37 2 68962637 68962637 + RNA SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 68962637 68962637 C T SNP ARHGAP25 ENST00000485700 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors ARHGAP25 HGNC ENSG00000163219 30 0 0.00 19 8 29.63 - - - ARHGAP44 0 genome.wustl.edu 37 17 12846952 12846952 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 12846952 12846952 G A SNP ARHGAP44 ENST00000379672 human ensembl 69_37n +1 known silent c.699 p.L233 0.998 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors ARHGAP44 HGNC ENSG00000006740 197 0 0.00 177 44 19.91 - - - ARHGEF11 0 genome.wustl.edu 37 1 156928929 156928929 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 156928929 156928929 G A SNP ARHGEF11 ENST00000368194 human ensembl 69_37n -1 known missense c.1288 p.R430C 0.893 pfam_Regulat_G_prot_signal-like,pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,pfam_Regulat_G_prot_signal,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_DH-domain - no_errors ARHGEF11 HGNC ENSG00000132694 73 0 0.00 67 25 27.17 - - - ARHGEF15 0 genome.wustl.edu 37 17 8222360 8222360 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 8222360 8222360 G A SNP ARHGEF15 ENST00000361926 human ensembl 69_37n +1 known missense c.2069 p.R690H 1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF15 HGNC ENSG00000198844 93 0 0.00 61 15 19.74 - - - ARHGEF2 0 genome.wustl.edu 37 1 155931554 155931554 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 155931554 155931554 G A SNP ARHGEF2 ENST00000368315 human ensembl 69_37n -1 known missense c.1369 p.P457S 0.953 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF2 HGNC ENSG00000116584 94 0 0.00 41 30 42.25 - - - ARID1A 0 genome.wustl.edu 37 1 27106008 27106008 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 27106008 27106008 C T SNP ARID1A ENST00000324856 human ensembl 69_37n +1 known silent c.5619 p.P1873 0.880 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 202 0 0.00 119 37 23.72 - - - ARID4B 0 genome.wustl.edu 37 1 235324563 235324563 + Silent SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 235324563 235324563 A G SNP ARID4B ENST00000474953 human ensembl 69_37n -1 known silent c.2070 p.S690 0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ARID4B HGNC ENSG00000054267 100 0 0.00 139 21 13.12 - - - ARMC3 0 genome.wustl.edu 37 10 23235198 23235198 + RNA DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 23235198 23235198 T - DEL ARMC3 ENST00000465729 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors ARMC3 HGNC ENSG00000165309 105 0 0.00 68 26 27.66 - - - ARMC4 0 genome.wustl.edu 37 10 28260103 28260103 + Nonsense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 28260103 28260103 C T SNP ARMC4 ENST00000305242 human ensembl 69_37n -1 known nonsense c.1076 p.W359* 0.001 NULL pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP/TIF31_domain,smart_Armadillo,pfscan_Armadillo - no_errors ARMC4 HGNC ENSG00000169126 189 0 0.00 112 25 18.25 - - - ARMC9 0 genome.wustl.edu 37 2 232079546 232079546 + Missense_Mutation SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 232079546 232079546 G T SNP ARMC9 ENST00000349938 human ensembl 69_37n +1 known missense c.180 p.K60N 1.000 NULL superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors ARMC9 HGNC ENSG00000135931 64 0 0.00 68 16 19.05 - - - ARMCX1 0 genome.wustl.edu 37 X 100808397 100808397 + Frame_Shift_Del DEL G G - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c X 100808397 100808397 G - DEL ARMCX1 ENST00000372829 human ensembl 69_37n +1 known frame_shift_del c.484 p.G163fs 0.051 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMCX1 HGNC ENSG00000126947 251 0 0.00 132 58 29.74 - - - ARNTL 0 genome.wustl.edu 37 11 13408207 13408207 + Silent SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 13408207 13408207 T C SNP ARNTL ENST00000403290 human ensembl 69_37n +1 known silent c.1785 p.N595 0.773 NULL pfam_PAS_fold,pfam_PAS_fold_3,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_HLH_DNA-bd,tigrfam_PAS - no_errors ARNTL HGNC ENSG00000133794 195 0 0.00 188 33 14.93 - - - ARPP19 0 genome.wustl.edu 37 15 52849227 52849227 + RNA SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 15 52849227 52849227 C T SNP ARPP19 ENST00000565288 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors ARPP19 HGNC ENSG00000128989 129 0 0.00 92 35 27.56 - - - ARSF 0 genome.wustl.edu 37 X 3002327 3002327 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c X 3002327 3002327 G A SNP ARSF ENST00000359361 human ensembl 69_37n +1 known silent c.450 p.Q150 0.999 pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ARSF HGNC ENSG00000062096 74 0 0.00 80 12 13.04 - - - ASB11 0 genome.wustl.edu 37 X 15333633 15333633 + Frame_Shift_Del DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c X 15333633 15333633 A - DEL ASB11 ENST00000480796 human ensembl 69_37n -1 known frame_shift_del c.95 p.L32fs 1.000 NULL 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 ASB11 HGNC ENSG00000165192 172 0 0.00 97 22 18.18 - - - ASB17 0 genome.wustl.edu 37 1 76397785 76397785 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 76397785 76397785 G A SNP ASB17 ENST00000284142 human ensembl 69_37n -1 known silent c.192 p.D64 0.632 NULL pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_SOCS_C,pfscan_SOCS_C - no_errors ASB17 HGNC ENSG00000154007 247 0 0.00 157 54 25.59 - - - ASH1L 0 genome.wustl.edu 37 1 155447691 155447691 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 155447691 155447691 A G SNP ASH1L ENST00000368346 human ensembl 69_37n -1 known missense c.4970 p.V1657A 0.993 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 163 0 0.00 188 28 12.96 - - - ASH1L 0 genome.wustl.edu 37 1 155448996 155448996 + Frame_Shift_Del DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 155448996 155448996 T - DEL ASH1L ENST00000368346 human ensembl 69_37n -1 known frame_shift_del c.3665 p.K1222fs 1.000 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 410 0 0.00 482 85 14.89 - - - ASPM 0 genome.wustl.edu 37 1 197102624 197102624 + Silent SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 197102624 197102624 G T SNP ASPM ENST00000367409 human ensembl 69_37n -1 known silent c.2275 p.R759 0.996 NULL pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 120 0 0.00 108 58 34.94 - - - ASTN2 0 genome.wustl.edu 37 9 119188274 119188274 + Silent SNP T T G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 119188274 119188274 T G SNP ASTN2 ENST00000313400 human ensembl 69_37n -1 known silent c.3876 p.T1292 0.998 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 48 0 0.00 23 17 42.50 - - - ASUN 0 genome.wustl.edu 37 12 27081205 27081205 + Nonsense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 27081205 27081205 G A SNP ASUN ENST00000261191 human ensembl 69_37n -1 known nonsense c.517 p.R173* 1.000 pfam_Cell_cycle_regulator_Mat89Bb pfam_Cell_cycle_regulator_Mat89Bb - no_errors ASUN HGNC ENSG00000064102 109 0 0.00 92 56 37.84 - - - ASZ1 0 genome.wustl.edu 37 7 117003766 117003766 + Nonsense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 7 117003766 117003766 G A SNP ASZ1 ENST00000284629 human ensembl 69_37n -1 known nonsense c.1312 p.Q438* 1.000 NULL pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ASZ1 HGNC ENSG00000154438 102 0 0.00 73 23 23.96 - - - ATAD5 0 genome.wustl.edu 37 17 29192721 29192721 + Splice_Site SNP G G C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 29192721 29192721 G C SNP ATAD5 ENST00000321990 human ensembl 69_37n +1 known splice_site c.3137-1 e11-1 1.000 - - - no_errors ATAD5 HGNC ENSG00000176208 58 0 0.00 43 21 32.81 - - - ATF7IP 0 genome.wustl.edu 37 12 14613927 14613927 + Missense_Mutation SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 14613927 14613927 G T SNP ATF7IP ENST00000261168 human ensembl 69_37n +1 known missense c.2657 p.R886M 1.000 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ATF7IP HGNC ENSG00000171681 131 0 0.00 89 29 24.58 - - - ATG16L2 0 genome.wustl.edu 37 11 72539521 72539521 + Missense_Mutation SNP C C G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 72539521 72539521 C G SNP ATG16L2 ENST00000321297 human ensembl 69_37n +1 known missense c.1590 p.D530E 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Autophagy-rel_prot_16,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors ATG16L2 HGNC ENSG00000168010 118 0 0.00 77 20 20.62 - - - ATG3 0 genome.wustl.edu 37 3 112255139 112255139 + RNA DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 112255139 112255139 T - DEL ATG3 ENST00000495756 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors ATG3 HGNC ENSG00000144848 17 0 0.00 14 10 41.67 - - - ATG7 0 genome.wustl.edu 37 3 11350233 11350233 + RNA SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 11350233 11350233 G A SNP ATG7 ENST00000464282 human ensembl 69_37n +1 putative rna NULL NULL 0.000 - - - no_errors ATG7 HGNC ENSG00000197548 50 0 0.00 44 10 18.52 - - - ATL1 0 genome.wustl.edu 37 14 51062310 51062310 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 14 51062310 51062310 G A SNP ATL1 ENST00000357032 human ensembl 69_37n +1 known missense c.590 p.G197D 1.000 pfam_Guanylate-bd_N pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C - no_errors ATL1 HGNC ENSG00000198513 84 0 0.00 81 29 26.13 - - - ATL1 0 genome.wustl.edu 37 14 51080061 51080061 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 14 51080061 51080061 C T SNP ATL1 ENST00000357032 human ensembl 69_37n +1 known missense c.715 p.R239C 1.000 pfam_Guanylate-bd_N pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C - no_errors ATL1 HGNC ENSG00000198513 76 0 0.00 54 12 18.18 - - - ATP13A5 0 genome.wustl.edu 37 3 193002798 193002798 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 193002798 193002798 G A SNP ATP13A5 ENST00000342358 human ensembl 69_37n -1 known missense c.3131 p.T1044I 0.501 tigrfam_ATPase_P-typ_unknown-pump-sp pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP13A5 HGNC ENSG00000187527 81 0 0.00 82 26 24.07 - - - ATP6V0A1 0 genome.wustl.edu 37 17 40660601 40660601 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 40660601 40660601 C T SNP ATP6V0A1 ENST00000343619 human ensembl 69_37n +1 known silent c.2124 p.D708 0.630 pfam_ATPase_V0/A0_a pfam_ATPase_V0/A0_a - no_errors ATP6V0A1 HGNC ENSG00000033627 71 0 0.00 62 8 11.43 - - - ATP9B 0 genome.wustl.edu 37 18 77066988 77066988 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 18 77066988 77066988 G A SNP ATP9B ENST00000426216 human ensembl 69_37n +1 known missense c.1527 p.M509I 0.000 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP9B HGNC ENSG00000166377 67 0 0.00 67 9 11.84 - - - ATR 0 genome.wustl.edu 37 3 142180912 142180913 + Frame_Shift_Del DEL CT CT - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 142180912 142180913 CT - DEL ATR ENST00000350721 human ensembl 69_37n -1 known frame_shift_del c.7062_7061 p.E2354fs 1.000:1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ENSG00000175054 237 0 0.00 166 71 29.10 - - - ATXN2 0 genome.wustl.edu 37 12 111954048 111954048 + Missense_Mutation SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 111954048 111954048 G T SNP ATXN2 ENST00000377617 human ensembl 69_37n -1 known missense c.1765 p.P589T 1.000 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2 HGNC ENSG00000204842 26 0 0.00 20 5 20.00 - - - AURKA 0 genome.wustl.edu 37 20 54961339 54961339 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 20 54961339 54961339 C T SNP AURKA ENST00000312783 human ensembl 69_37n -1 known missense c.293 p.S98N 0.002 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors AURKA HGNC ENSG00000087586 246 0 0.00 179 49 21.49 - - - AXIN2 0 genome.wustl.edu 37 17 63554687 63554687 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 63554687 63554687 G A SNP AXIN2 ENST00000307078 human ensembl 69_37n -1 known missense c.52 p.R18C 1.000 NULL pfam_DIX,pfam_Regulat_G_prot_signal,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors AXIN2 HGNC ENSG00000168646 46 0 0.00 16 9 36.00 - - - AXL 0 genome.wustl.edu 37 19 41744480 41744480 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 41744480 41744480 A G SNP AXL ENST00000301178 human ensembl 69_37n +1 known missense c.1100 p.Y367C 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AXL HGNC ENSG00000167601 28 0 0.00 27 5 15.15 - - - AZIN1 0 genome.wustl.edu 37 8 103851050 103851050 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 8 103851050 103851050 G A SNP AZIN1 ENST00000337198 human ensembl 69_37n -1 known missense c.371 p.A124V 1.000 pfam_De-COase2_N,prints_Orn_de-COase pfam_De-COase2_N,pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase,prints_Orn/DAP/Arg_de-COase - no_errors AZIN1 HGNC ENSG00000155096 90 0 0.00 43 81 65.32 - - - BACH1 0 genome.wustl.edu 37 21 30699365 30699365 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 21 30699365 30699365 G A SNP BACH1 ENST00000286800 human ensembl 69_37n +1 known missense c.1220 p.S407N 0.996 NULL pfam_BTB_POZ,pfam_bZIP_1,pfam_bZIP_2,superfamily_BTB/POZ_fold,superfamily_Euk_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH1 HGNC ENSG00000156273 229 0 0.00 196 35 15.15 - - - BAX 0 genome.wustl.edu 37 19 49458971 49458971 + Frame_Shift_Del DEL G G - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 49458971 49458971 G - DEL BAX ENST00000293288 human ensembl 69_37n +1 known frame_shift_del c.114 p.E41fs 0.588 NULL pfam_Bcl2_BH,smart_Bcl2_BH,pfscan_Bcl2-like_apoptosis,prints_Bcl2_BH - no_errors BAX HGNC ENSG00000087088 44 0 0.00 32 6 15.38 - - - BAX 0 genome.wustl.edu 37 19 49459481 49459481 + Frame_Shift_Del DEL C C - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 49459481 49459481 C - DEL BAX ENST00000293288 human ensembl 69_37n +1 known frame_shift_del c.260 p.R89fs 1.000 pfam_Bcl2_BH,smart_Bcl2_BH,pfscan_Bcl2-like_apoptosis pfam_Bcl2_BH,smart_Bcl2_BH,pfscan_Bcl2-like_apoptosis,prints_Bcl2_BH - no_errors BAX HGNC ENSG00000087088 72 0 0.00 32 17 34.00 - - - BBX 0 genome.wustl.edu 37 3 107517499 107517499 + Nonsense_Mutation SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 107517499 107517499 G T SNP BBX ENST00000416476 human ensembl 69_37n +1 putative nonsense c.1474 p.G492* 1.000 NULL pfam_TF_HMG_box_BBX_DUF2028,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors BBX HGNC ENSG00000114439 116 0 0.00 104 18 14.75 - - - BCL3 0 genome.wustl.edu 37 19 45262737 45262737 + Frame_Shift_Del DEL C C - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 45262737 45262737 C - DEL BCL3 ENST00000164227 human ensembl 69_37n +1 known frame_shift_del c.1230 p.P412fs 0.183 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors BCL3 HGNC ENSG00000069399 111 0 0.00 67 16 19.05 - - - BCOR 0 genome.wustl.edu 37 X 39923729 39923729 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c X 39923729 39923729 G A SNP BCOR ENST00000378444 human ensembl 69_37n -1 known missense c.3362 p.A1121V 0.040 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 46 0 0.00 16 10 37.04 - - - BCORL1 0 genome.wustl.edu 37 X 129158975 129158975 + Silent SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c X 129158975 129158975 T C SNP BCORL1 ENST00000303743 human ensembl 69_37n +1 known silent c.3699 p.C1233 0.967 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC ENSG00000085185 247 0 0.00 113 53 31.93 - - - BDNF 0 genome.wustl.edu 37 11 27679478 27679478 + Missense_Mutation SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 27679478 27679478 G T SNP BDNF ENST00000438929 human ensembl 69_37n -1 known missense c.880 p.Q294K 1.000 pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pfscan_Nerve_growth_factor-rel,prints_Nerve_growth_factor-rel pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pfscan_Nerve_growth_factor-rel,prints_Brain-der_neurotrophic_factor,prints_Nerve_growth_factor-rel - no_errors BDNF HGNC ENSG00000176697 294 0 0.00 229 59 20.49 - - - BIRC6 0 genome.wustl.edu 37 2 32602710 32602710 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 32602710 32602710 T C SNP BIRC6 ENST00000421745 human ensembl 69_37n +1 known missense c.380 p.I127T 1.000 superfamily_WD40_repeat_dom pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 126 0 0.00 113 74 39.57 - - - BLM 0 genome.wustl.edu 37 15 91354518 91354518 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 15 91354518 91354518 C T SNP BLM ENST00000355112 human ensembl 69_37n +1 known missense c.3958 p.P1320S 0.000 NULL pfam_RQC_domain,pfam_BDHCT,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/RNaseD_C,superfamily_HRDC-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors BLM HGNC ENSG00000197299 84 0 0.00 60 8 11.76 - - - BMP3 0 genome.wustl.edu 37 4 81974652 81974652 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 81974652 81974652 T C SNP BMP3 ENST00000282701 human ensembl 69_37n +1 known missense c.1381 p.Y461H 0.999 pfam_TGF-b_C,smart_TGF-b_C,pirsf_BMP3/GDF10 pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,pirsf_BMP3/GDF10 - no_errors BMP3 HGNC ENSG00000152785 140 0 0.00 106 59 35.76 - - - BMS1 0 genome.wustl.edu 37 10 43292515 43292515 + Missense_Mutation SNP A A T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 43292515 43292515 A T SNP BMS1 ENST00000374518 human ensembl 69_37n +1 known missense c.1823 p.E608V 0.522 NULL pfam_BMS1_TSR1_C,pfam_AARP2CN,pfam_ProtSyn_GTP-bd,smart_AARP2CN - no_errors BMS1 HGNC ENSG00000165733 321 0 0.00 183 136 42.50 - - - BMS1P5 0 genome.wustl.edu 37 10 48944573 48944573 + RNA SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 48944573 48944573 G T SNP BMS1P5 ENST00000449800 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors RP11-508M1.3 Clone_based_vega_gene ENSG00000204164 22 0 0.00 14 7 33.33 - - - BOD1L1 0 genome.wustl.edu 37 4 13606000 13606000 + Missense_Mutation SNP A A T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 13606000 13606000 A T SNP BOD1L1 ENST00000040738 human ensembl 69_37n -1 known missense c.2524 p.S842T 1.000 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 56 0 0.00 39 27 40.30 - - - BOD1L1 0 genome.wustl.edu 37 4 13617087 13617087 + Silent SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 13617087 13617087 A G SNP BOD1L1 ENST00000040738 human ensembl 69_37n -1 known silent c.408 p.S136 1.000 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 200 0 0.00 163 28 14.66 - - - BPIFB1 0 genome.wustl.edu 37 20 31885362 31885362 + Missense_Mutation SNP G G C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 20 31885362 31885362 G C SNP BPIFB1 ENST00000253354 human ensembl 69_37n +1 known missense c.629 p.G210A 0.983 superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,pirsf_PLUNC_long_form pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,pirsf_PLUNC_long_form - no_errors BPIFB1 HGNC ENSG00000125999 199 0 0.00 164 33 16.75 - - - BPIFB4 0 genome.wustl.edu 37 20 31671214 31671214 + Frame_Shift_Del DEL C C - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 20 31671214 31671214 C - DEL BPIFB4 ENST00000375483 human ensembl 69_37n +1 known frame_shift_del c.211 p.P73fs 0.030 NULL pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB4 HGNC ENSG00000186191 139 1 0.71 146 21 12.50 - - - BRAP 0 genome.wustl.edu 37 12 112121100 112121100 + Missense_Mutation SNP A A C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 112121100 112121100 A C SNP BRAP ENST00000419234 human ensembl 69_37n -1 known missense c.94 p.S32A 1.000 NULL pfam_BRAP2,pfam_Znf_UBP,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_UBP,pfscan_Znf_RING,pfscan_Znf_UBP - no_errors BRAP HGNC ENSG00000089234 200 0 0.00 71 54 42.86 - - - BRD9 0 genome.wustl.edu 37 5 876276 876276 + Nonsense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 876276 876276 G A SNP BRD9 ENST00000523139 human ensembl 69_37n -1 known nonsense c.43 p.R15* 0.804 pfam_DUF3512 pfam_DUF3512 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region BRD9 HGNC ENSG00000028310 27 0 0.00 28 11 28.21 - - - BRIP1 0 genome.wustl.edu 37 17 59926562 59926562 + Silent SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 59926562 59926562 G T SNP BRIP1 ENST00000259008 human ensembl 69_37n -1 known silent c.435 p.S145 0.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3 pfam_DEAD_2,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_TIL_dom,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors BRIP1 HGNC ENSG00000136492 240 0 0.00 230 31 11.88 - - - BTN2A2 0 genome.wustl.edu 37 6 26385556 26385556 + Silent SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 26385556 26385556 C A SNP BTN2A2 ENST00000356709 human ensembl 69_37n +1 known silent c.408 p.S136 0.785 smart_Ig_sub pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like - no_errors BTN2A2 HGNC ENSG00000124508 125 0 0.00 88 22 20.00 - - - BTN2A2 0 genome.wustl.edu 37 6 26390265 26390265 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 26390265 26390265 G A SNP BTN2A2 ENST00000356709 human ensembl 69_37n +1 known missense c.757 p.V253M 0.453 NULL pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like - no_errors BTN2A2 HGNC ENSG00000124508 322 0 0.00 261 62 19.20 - - - BVES-AS1 0 genome.wustl.edu 37 6 105606911 105606911 + RNA DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 105606911 105606911 A - DEL BVES-AS1 ENST00000369120 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors BVES-AS1 HGNC ENSG00000203808 11 0 0.00 1 6 60.00 - - - C11orf30 0 genome.wustl.edu 37 11 76261113 76261113 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 76261113 76261113 A G SNP C11orf30 ENST00000334736 human ensembl 69_37n +1 known missense c.3892 p.M1298V 0.850 NULL pfam_ENT_N,pfscan_ENT_N - no_errors C11orf30 HGNC ENSG00000158636 124 0 0.00 86 18 17.31 - - - C12orf5 0 genome.wustl.edu 37 12 4459055 4459055 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 4459055 4459055 G A SNP C12orf5 ENST00000179259 human ensembl 69_37n +1 known missense c.263 p.R88Q 1.000 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1 - no_errors C12orf5 HGNC ENSG00000078237 168 0 0.00 164 39 19.12 - - - C14orf43 0 genome.wustl.edu 37 14 74205773 74205773 + Frame_Shift_Del DEL G G - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 14 74205773 74205773 G - DEL C14orf43 ENST00000286523 human ensembl 69_37n -1 known frame_shift_del c.939 p.N314fs 0.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors C14orf43 HGNC ENSG00000156030 24 0 0.00 11 6 35.29 - - - C16orf62 0 genome.wustl.edu 37 16 19710827 19710827 + Missense_Mutation SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 16 19710827 19710827 C A SNP C16orf62 ENST00000438132 human ensembl 69_37n +1 known missense c.2917 p.L973M 0.997 NULL NULL - no_errors C16orf62 HGNC ENSG00000103544 63 0 0.00 43 12 21.82 - - - C19orf12 0 genome.wustl.edu 37 19 30193800 30193800 + Frame_Shift_Del DEL G G - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 30193800 30193800 G - DEL C19orf12 ENST00000392278 human ensembl 69_37n -1 known frame_shift_del c.278 p.P93fs 0.800 NULL NULL - no_errors C19orf12 HGNC ENSG00000131943 63 0 0.00 47 21 30.43 - - - C1R 0 genome.wustl.edu 37 12 7241528 7241528 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 7241528 7241528 C T SNP C1R ENST00000290575 human ensembl 69_37n -1 known missense c.865 p.D289N 0.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_Peptidase_S1_S6,pfam_CUB,pfam_EGF-like_Ca-bd,pfam_Sushi_SCR_CCP,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6 - no_errors C1R HGNC ENSG00000159403 21 0 0.00 12 23 62.16 - - - C1R 0 genome.wustl.edu 37 12 7242010 7242010 + Frame_Shift_Del DEL G G - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 7242010 7242010 G - DEL C1R ENST00000290575 human ensembl 69_37n -1 known frame_shift_del c.689 p.P230fs 0.019 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_Peptidase_S1_S6,pfam_CUB,pfam_EGF-like_Ca-bd,pfam_Sushi_SCR_CCP,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6 - no_errors C1R HGNC ENSG00000159403 121 0 0.00 87 29 24.58 - - - C1orf111 0 genome.wustl.edu 37 1 162344286 162344286 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 162344286 162344286 G A SNP C1orf111 ENST00000367935 human ensembl 69_37n -1 known missense c.338 p.A113V 0.322 NULL NULL - no_errors C1orf111 HGNC ENSG00000171722 129 0 0.00 135 35 20.59 - - - C1orf168 0 genome.wustl.edu 37 1 57185280 57185280 + RNA SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 57185280 57185280 G A SNP C1orf168 ENST00000493000 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors C1orf168 HGNC ENSG00000187889 54 0 0.00 38 10 20.83 - - - C1orf56 0 genome.wustl.edu 37 1 151020687 151020688 + Frame_Shift_Del DEL AG AG - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 151020687 151020688 AG - DEL C1orf56 ENST00000368926 human ensembl 69_37n +1 known frame_shift_del c.364_365 p.E123fs 0.000:0.000 NULL superfamily_Thrombospondin_1_rpt - no_errors C1orf56 HGNC ENSG00000143443 99 0 0.00 72 11 13.25 - - - C4orf21 0 genome.wustl.edu 37 4 113539167 113539167 + Silent SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 113539167 113539167 T C SNP C4orf21 ENST00000505019 human ensembl 69_37n -1 known silent c.2031 p.L677 0.000 NULL pfam_DUF2439,pfam_Znf_GRF - no_errors C4orf21 HGNC ENSG00000138658 176 0 0.00 162 28 14.74 - - - C6orf165 0 genome.wustl.edu 37 6 88144700 88144700 + Frame_Shift_Del DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 88144700 88144700 A - DEL C6orf165 ENST00000369562 human ensembl 69_37n +1 known frame_shift_del c.1423 p.N477fs 1.000 pfam_DUF3508 pfam_DUF3508 - no_errors C6orf165 HGNC ENSG00000213204 106 0 0.00 82 37 29.60 - - - C8B 0 genome.wustl.edu 37 1 57415383 57415383 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 57415383 57415383 A G SNP C8B ENST00000371237 human ensembl 69_37n -1 known missense c.709 p.Y237H 0.992 NULL pfam_MACPF,pfam_LDrepeatLR_classA_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C8B HGNC ENSG00000021852 153 0 0.00 125 18 12.50 - - - C9orf174 0 genome.wustl.edu 37 9 100092948 100092948 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 100092948 100092948 G A SNP C9orf174 ENST00000375202 human ensembl 69_37n +1 known missense c.2305 p.E769K 0.000 NULL NULL - no_errors C9orf174 HGNC ENSG00000197816 124 0 0.00 115 14 10.85 - - - C9orf174 0 genome.wustl.edu 37 9 100119936 100119936 + Nonsense_Mutation SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 100119936 100119936 G T SNP C9orf174 ENST00000375202 human ensembl 69_37n +1 known nonsense c.3424 p.G1142* 0.005 NULL NULL - no_errors C9orf174 HGNC ENSG00000197816 351 0 0.00 266 72 21.30 - - - C9orf37 0 genome.wustl.edu 37 9 140510469 140510471 + In_Frame_Del DEL CTC CTC - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 140510469 140510471 CTC - DEL C9orf37 ENST00000371417 human ensembl 69_37n -1 known in_frame_del c.183_181 p.E61in_frame_del 0.086:0.057:0.003 NULL NULL - no_errors C9orf37 HGNC ENSG00000203993 19 0 0.00 4 2 33.33 - - - C9orf72 0 genome.wustl.edu 37 9 27566855 27566855 + Silent SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 27566855 27566855 A G SNP C9orf72 ENST00000380003 human ensembl 69_37n -1 known silent c.264 p.S88 1.000 NULL NULL - no_errors C9orf72 HGNC ENSG00000147894 97 0 0.00 41 11 21.15 - - - C9orf84 0 genome.wustl.edu 37 9 114490015 114490016 + Frame_Shift_Ins INS - - T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 114490015 114490016 - T INS C9orf84 ENST00000318737 human ensembl 69_37n -1 known frame_shift_ins c.1540_1539 p.Q513fs 0.000:0.002 NULL superfamily_RuvA_2-like - no_errors C9orf84 HGNC ENSG00000165181 143 0 0.00 141 32 18.50 - - - CABIN1 0 genome.wustl.edu 37 22 24515602 24515602 + Frame_Shift_Del DEL C C - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 22 24515602 24515602 C - DEL CABIN1 ENST00000263119 human ensembl 69_37n +1 known frame_shift_del c.4569 p.Q1525fs 1.000 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC ENSG00000099991 95 0 0.00 51 15 22.39 - - - CACNA2D4 0 genome.wustl.edu 37 12 1910750 1910750 + Frame_Shift_Del DEL C C - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 1910750 1910750 C - DEL CACNA2D4 ENST00000382722 human ensembl 69_37n -1 known frame_shift_del c.2782 p.V928fs 1.000 NULL pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D4 HGNC ENSG00000151062 9 0 0.00 3 3 50.00 - - - CACNB1 0 genome.wustl.edu 37 17 37331623 37331623 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 37331623 37331623 C T SNP CACNB1 ENST00000394303 human ensembl 69_37n -1 known silent c.1620 p.T540 0.718 NULL pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b1su - no_errors CACNB1 HGNC ENSG00000067191 106 0 0.00 81 19 19.00 - - - CACNB4 0 genome.wustl.edu 37 2 152830225 152830225 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 152830225 152830225 C T SNP CACNB4 ENST00000360283 human ensembl 69_37n -1 known missense c.3 p.M1I 1.000 prints_VDCC_L_b3su pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,prints_VDCC_L_bsu,prints_VDCC_L_b3su,pfscan_SH3_domain - no_errors CACNB4 HGNC ENSG00000182389 68 0 0.00 47 20 29.85 - - - CAD 0 genome.wustl.edu 37 2 27447984 27447984 + Missense_Mutation SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 27447984 27447984 G T SNP CAD ENST00000264705 human ensembl 69_37n +1 known missense c.1493 p.G498V 0.993 pfam_CarbamoylP_synth_lsu_N,superfamily_PreATP-grasp_fold,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE_1,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf_euk,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf_euk - no_errors CAD HGNC ENSG00000084774 47 0 0.00 39 18 31.58 - - - CAMTA1 0 genome.wustl.edu 37 1 7700471 7700471 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 7700471 7700471 C T SNP CAMTA1 ENST00000303635 human ensembl 69_37n +1 known silent c.522 p.I174 0.956 pfam_CG-1_dom pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 32 0 0.00 22 8 26.67 - - - CAMTA1 0 genome.wustl.edu 37 1 7724938 7724938 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 7724938 7724938 C T SNP CAMTA1 ENST00000303635 human ensembl 69_37n +1 known silent c.2331 p.I777 1.000 NULL pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 64 0 0.00 34 8 19.05 - - - CAND2 0 genome.wustl.edu 37 3 12858022 12858022 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 12858022 12858022 G A SNP CAND2 ENST00000456430 human ensembl 69_37n +1 known missense c.1591 p.A531T 0.996 superfamily_ARM-type_fold pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold - no_errors CAND2 HGNC ENSG00000144712 54 0 0.00 28 10 26.32 - - - CAP1 0 genome.wustl.edu 37 1 40536594 40536597 + Frame_Shift_Del DEL AGTC AGTC - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 AGTC AGTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 40536594 40536597 AGTC - DEL CAP1 ENST00000372792 human ensembl 69_37n +1 known frame_shift_del c.1287_1290 p.S431fs 1.000:1.000:1.000:1.000 pfam_Adenylate_cyclase-assoc_CAP_C,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif pfam_Adenylate_cyclase-assoc_CAP_N,pfam_Adenylate_cyclase-assoc_CAP_C,superfamily_Adenylate_cyclase-assoc_CAP_N,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif - no_errors CAP1 HGNC ENSG00000131236 420 0 0.00 329 55 14.32 - - - CARM1 0 genome.wustl.edu 37 19 11022909 11022909 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 11022909 11022909 C T SNP CARM1 ENST00000327064 human ensembl 69_37n +1 known missense c.608 p.A203V 1.000 pfam_Arg_MeTrfase,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom,pfam_tRNA_mo5U34_MeTrfase,pfam_Methyltransf_11 pfam_Histone-Arg_MeTrfase_N,pfam_Arg_MeTrfase,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom,pfam_tRNA_mo5U34_MeTrfase,pfam_Methyltransf_11 - no_errors CARM1 HGNC ENSG00000142453 65 0 0.00 22 11 33.33 - - - CASD1 0 genome.wustl.edu 37 7 94174999 94174999 + Frame_Shift_Del DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 7 94174999 94174999 A - DEL CASD1 ENST00000297273 human ensembl 69_37n +1 known frame_shift_del c.1619 p.A543fs 1.000 pfam_Cas1_AcylTrans_dom pfam_Cas1_AcylTrans_dom,superfamily_Cyclin-like - no_errors CASD1 HGNC ENSG00000127995 74 0 0.00 62 12 16.00 - - - CASP8 0 genome.wustl.edu 37 2 202137400 202137400 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 202137400 202137400 A G SNP CASP8 ENST00000358485 human ensembl 69_37n +1 known missense c.628 p.I210V 0.001 pfam_DED,superfamily_DEATH-like,smart_DED,pfscan_DED pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP8 HGNC ENSG00000064012 398 0 0.00 277 163 36.96 - - - CASP8AP2 0 genome.wustl.edu 37 6 90578727 90578727 + RNA SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 90578727 90578727 A G SNP CASP8AP2 ENST00000237177 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors CASP8AP2 HGNC ENSG00000118412 34 0 0.00 23 12 34.29 - - - CASQ2 0 genome.wustl.edu 37 1 116243962 116243962 + Missense_Mutation SNP G G C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 116243962 116243962 G C SNP CASQ2 ENST00000261448 human ensembl 69_37n -1 known missense c.1100 p.S367C 1.000 pfam_Calsequestrin,prints_Calsequestrin pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin - no_errors CASQ2 HGNC ENSG00000118729 97 0 0.00 66 16 19.28 - - - CAT 0 genome.wustl.edu 37 11 34482536 34482536 + RNA DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 34482536 34482536 A - DEL CAT ENST00000530343 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors CAT HGNC ENSG00000121691 30 0 0.00 22 19 43.18 - - - CATSPER1 0 genome.wustl.edu 37 11 65793668 65793668 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 65793668 65793668 C T SNP CATSPER1 ENST00000312106 human ensembl 69_37n -1 known silent c.183 p.P61 0.001 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel - no_errors CATSPER1 HGNC ENSG00000175294 99 0 0.00 88 19 17.76 - - - CATSPER2P1 0 genome.wustl.edu 37 15 44019408 44019408 + RNA SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 15 44019408 44019408 G A SNP CATSPER2P1 ENST00000446479 human ensembl 69_37n -1 putative rna NULL NULL 1.000 - - - no_errors CATSPER2P1 HGNC ENSG00000205771 237 0 0.00 129 48 27.12 - - - CBWD1 0 genome.wustl.edu 37 9 163985 163985 + Silent SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 163985 163985 A G SNP CBWD1 ENST00000356521 human ensembl 69_37n -1 known silent c.483 p.Y161 0.999 pfam_Cbl_biosynth_CobW-like pfam_Cbl_biosynth_CobW-like,pfam_Cbl_biosynth_CobW-like_C,superfamily_Cbl_biosynth_CobW-like_C - no_errors CBWD1 HGNC ENSG00000172785 192 1 0.52 167 21 11.17 - - - CBX2 0 genome.wustl.edu 37 17 77758811 77758811 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 77758811 77758811 C T SNP CBX2 ENST00000310942 human ensembl 69_37n +1 known silent c.1569 p.S523 0.677 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CBX2 HGNC ENSG00000173894 34 0 0.00 7 6 46.15 - - - CC2D1B 0 genome.wustl.edu 37 1 52826578 52826578 + RNA SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 52826578 52826578 G A SNP CC2D1B ENST00000491136 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors CC2D1B HGNC ENSG00000154222 58 0 0.00 32 8 20.00 - - - CC2D2A 0 genome.wustl.edu 37 4 15569050 15569050 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 15569050 15569050 C T SNP CC2D2A ENST00000413206 human ensembl 69_37n +1 known missense c.3233 p.A1078V 0.058 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep - no_errors CC2D2A HGNC ENSG00000048342 91 0 0.00 65 36 35.64 - - - CCDC102B 0 genome.wustl.edu 37 18 66504553 66504553 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 18 66504553 66504553 A G SNP CCDC102B ENST00000319445 human ensembl 69_37n +1 known missense c.553 p.R185G 0.001 NULL NULL - no_errors CCDC102B HGNC ENSG00000150636 205 0 0.00 165 27 13.99 - - - CCDC108 0 genome.wustl.edu 37 2 219883883 219883883 + Frame_Shift_Del DEL G G - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 219883883 219883883 G - DEL CCDC108 ENST00000341552 human ensembl 69_37n -1 known frame_shift_del c.3492 p.V1165fs 0.000 NULL superfamily_PapD-like,pfscan_Major_sperm - no_errors CCDC108 HGNC ENSG00000181378 62 0 0.00 34 12 23.53 - - - CCDC150 0 genome.wustl.edu 37 2 197597463 197597463 + RNA DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 197597463 197597463 T - DEL CCDC150 ENST00000483877 human ensembl 69_37n +1 putative rna NULL NULL 0.008 - - - no_errors CCDC150 HGNC ENSG00000144395 72 0 0.00 73 11 13.10 - - - CCDC155 0 genome.wustl.edu 37 19 49899049 49899049 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 49899049 49899049 C T SNP CCDC155 ENST00000447857 human ensembl 69_37n +1 known missense c.359 p.T120I 0.774 NULL NULL - no_errors CCDC155 HGNC ENSG00000161609 17 0 0.00 8 9 52.94 - - - CCDC67 0 genome.wustl.edu 37 11 93104239 93104240 + Frame_Shift_Ins INS - - A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 93104239 93104240 - A INS CCDC67 ENST00000298050 human ensembl 69_37n +1 known frame_shift_ins c.582_583 p.Q196fs 0.989:0.995 NULL superfamily_MHC_II-assoc_invariant_trimer - no_errors CCDC67 HGNC ENSG00000165325 83 0 0.00 82 37 31.09 - - - CCDC8 0 genome.wustl.edu 37 19 46915364 46915364 + Missense_Mutation SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 46915364 46915364 C A SNP CCDC8 ENST00000307522 human ensembl 69_37n -1 known missense c.704 p.G235V 0.000 NULL NULL - no_errors CCDC8 HGNC ENSG00000169515 31 0 0.00 20 10 33.33 - - - CCDC82 0 genome.wustl.edu 37 11 96117385 96117387 + In_Frame_Del DEL TCT TCT - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 96117385 96117387 TCT - DEL CCDC82 ENST00000278520 human ensembl 69_37n -1 known in_frame_del c.527_525 p.E175in_frame_del 0.005:0.012:0.029 NULL NULL - no_errors CCDC82 HGNC ENSG00000149231 236 0 0.00 291 39 11.68 - - - CCDC97 0 genome.wustl.edu 37 19 41825581 41825581 + Frame_Shift_Del DEL C C - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 41825581 41825581 C - DEL CCDC97 ENST00000269967 human ensembl 69_37n +1 known frame_shift_del c.605 p.P203fs 0.346 pfam_DUF2052_coiled-coil pfam_DUF2052_coiled-coil - no_errors CCDC97 HGNC ENSG00000142039 216 0 0.00 183 28 13.15 - - - CCND2 0 genome.wustl.edu 37 12 4388070 4388070 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 4388070 4388070 G A SNP CCND2 ENST00000261254 human ensembl 69_37n +1 known missense c.556 p.A186T 1.000 pfam_Cyclin_C,superfamily_Cyclin-like,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 CCND2 HGNC ENSG00000118971 39 0 0.00 34 7 17.07 - - - CCNF 0 genome.wustl.edu 37 16 2499889 2499889 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 16 2499889 2499889 C T SNP CCNF ENST00000397066 human ensembl 69_37n +1 known missense c.1460 p.P487L 1.000 pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like pfam_Cyclin_N,pfam_Cyclin_C,pfam_F-box_dom_cyclin-like,superfamily_Cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors CCNF HGNC ENSG00000162063 46 0 0.00 33 6 15.38 - - - CCNK 0 genome.wustl.edu 37 14 99969204 99969204 + Silent SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 14 99969204 99969204 A G SNP CCNK ENST00000389879 human ensembl 69_37n +1 known silent c.894 p.E298 0.014 NULL pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNK HGNC ENSG00000090061 74 0 0.00 44 11 20.00 - - - CCR7 0 genome.wustl.edu 37 17 38721655 38721655 + Missense_Mutation SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 38721655 38721655 G T SNP CCR7 ENST00000246657 human ensembl 69_37n -1 known missense c.7 p.L3M 0.992 prints_Chemokine_CCR7 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 129 0 0.00 77 42 35.29 - - - CCT6A 0 genome.wustl.edu 37 7 56128011 56128011 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 7 56128011 56128011 T C SNP CCT6A ENST00000275603 human ensembl 69_37n +1 known missense c.1115 p.V372A 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_zeta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta - no_errors CCT6A HGNC ENSG00000146731 113 0 0.00 86 33 27.73 - - - CD22 0 genome.wustl.edu 37 19 35832857 35832857 + Frame_Shift_Del DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 35832857 35832857 T - DEL CD22 ENST00000085219 human ensembl 69_37n +1 known frame_shift_del c.2024 p.L675fs 1.000 smart_Ig_sub,pfscan_Ig-like pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CD22 HGNC ENSG00000012124 236 0 0.00 185 53 21.20 - - - CD28 0 genome.wustl.edu 37 2 204599627 204599627 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 204599627 204599627 C T SNP CD28 ENST00000324106 human ensembl 69_37n +1 known missense c.655 p.R219C 1.000 prints_CD28 pfam_Ig_V-set,smart_Ig_V-set_subgr,prints_CD28 - no_errors CD28 HGNC ENSG00000178562 114 0 0.00 118 24 16.90 - - - CD36 0 genome.wustl.edu 37 7 80302117 80302117 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 7 80302117 80302117 G A SNP CD36 ENST00000309881 human ensembl 69_37n +1 known missense c.1157 p.R386Q 1.000 pfam_CD36,prints_CD36 pfam_CD36,prints_CD36_antigen,prints_CD36 - no_errors CD36 HGNC ENSG00000135218 47 0 0.00 24 34 58.62 - - - CD4 0 genome.wustl.edu 37 12 6925451 6925451 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 6925451 6925451 G A SNP CD4 ENST00000011653 human ensembl 69_37n +1 known silent c.837 p.P279 0.000 pfam_CD4-extracel,smart_Ig_sub,prints_Ag_CD4 pfam_CD4-extracel,pfam_Ig_C2-set,pfam_Tcell_CD4_Cterm,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,pfam_NK_rcpt_2B4_Ig_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_Ag_CD4 - no_errors CD4 HGNC ENSG00000010610 414 0 0.00 322 93 22.41 - - - CD44 0 genome.wustl.edu 37 11 35218403 35218405 + In_Frame_Del DEL ACA ACA - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 ACA ACA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 35218403 35218405 ACA - DEL CD44 ENST00000428726 human ensembl 69_37n +1 known in_frame_del c.778_780 p.T262in_frame_del 0.995:0.993:0.986 NULL pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_CD44_antigen,prints_Link - no_errors CD44 HGNC ENSG00000026508 70 0 0.00 65 13 16.67 - - - CD84 0 genome.wustl.edu 37 1 160535225 160535225 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 160535225 160535225 G A SNP CD84 ENST00000311224 human ensembl 69_37n -1 known silent c.357 p.T119 0.776 smart_Ig_sub smart_Ig_sub,pfscan_Ig-like - no_errors CD84 HGNC ENSG00000066294 286 0 0.00 280 40 12.50 - - - CD96 0 genome.wustl.edu 37 3 111325589 111325589 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 111325589 111325589 A G SNP CD96 ENST00000283285 human ensembl 69_37n +1 known missense c.1178 p.E393G 0.009 NULL smart_Ig_sub,pfscan_Ig-like - no_errors CD96 HGNC ENSG00000153283 116 0 0.00 115 26 18.44 - - - CDC5L 0 genome.wustl.edu 37 6 44360566 44360569 + Splice_Site DEL GTAA GTAA - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 GTAA GTAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 44360566 44360569 GTAA - DEL CDC5L ENST00000371477 human ensembl 69_37n +1 known splice_site_del c.311+1_311+1 e3+1 1.000:1.000:1.000:1.000 - - - no_errors CDC5L HGNC ENSG00000096401 122 0 0.00 110 44 28.39 - - - CDC73 0 genome.wustl.edu 37 1 193205421 193205421 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 193205421 193205421 C T SNP CDC73 ENST00000367435 human ensembl 69_37n +1 known missense c.1352 p.A451V 0.999 pfam_RNA_pol_access_fac_Cdc73 pfam_RNA_pol_access_fac_Cdc73 - no_errors CDC73 HGNC ENSG00000134371 194 0 0.00 205 72 25.99 - - - CDH1 0 genome.wustl.edu 37 16 68867410 68867411 + RNA DEL GA GA - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 16 68867410 68867411 GA - DEL CDH1 ENST00000562836 human ensembl 69_37n +1 known rna NULL NULL 0.000:0.000 - - - no_errors CDH1 HGNC ENSG00000039068 70 0 0.00 41 7 14.58 - - - CDH16 0 genome.wustl.edu 37 16 66945906 66945906 + Frame_Shift_Del DEL G G - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 16 66945906 66945906 G - DEL CDH16 ENST00000299752 human ensembl 69_37n -1 known frame_shift_del c.1686 p.K563fs 0.250 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH16 HGNC ENSG00000166589 45 0 0.00 5 4 44.44 - - - CDH23 0 genome.wustl.edu 37 10 73567447 73567447 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 73567447 73567447 C T SNP CDH23 ENST00000224721 human ensembl 69_37n +1 known missense c.8492 p.T2831I 0.990 smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH23 HGNC ENSG00000107736 38 0 0.00 32 5 13.51 - - - CDH26 0 genome.wustl.edu 37 20 58559803 58559803 + Silent SNP T T G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 20 58559803 58559803 T G SNP CDH26 ENST00000244047 human ensembl 69_37n +1 known silent c.651 p.G217 0.019 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH26 HGNC ENSG00000124215 190 1 0.52 192 34 14.98 - - - CDK12 0 genome.wustl.edu 37 17 37618446 37618446 + Missense_Mutation SNP A A C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 37618446 37618446 A C SNP CDK12 ENST00000447079 human ensembl 69_37n +1 known missense c.122 p.K41T 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK12 HGNC ENSG00000167258 50 0 0.00 49 13 20.97 - - - CDK5R1 0 genome.wustl.edu 37 17 30814819 30814821 + In_Frame_Del DEL AAG AAG - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 30814819 30814821 AAG - DEL CDK5R1 ENST00000313401 human ensembl 69_37n +1 known in_frame_del c.181_183 p.K63in_frame_del 1.000:1.000:1.000 pfam_CDK5_activator,pirsf_CDK5_activator pfam_CDK5_activator,superfamily_Cyclin-like,pirsf_CDK5_activator - no_errors CDK5R1 HGNC ENSG00000176749 43 0 0.00 8 4 33.33 - - - CELSR1 0 genome.wustl.edu 37 22 46929990 46929990 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 22 46929990 46929990 A G SNP CELSR1 ENST00000454637 human ensembl 69_37n -1 putative missense c.1202 p.L401P 0.014 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_EGF-like_dom,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,pfscan_EG-like_dom,pfscan_Cadherin,prints_Cadherin - pseudogene:no_stop_codon:bad_bp_length_for_coding_region CELSR1 HGNC ENSG00000075275 21 0 0.00 6 5 45.45 - - - CENPF 0 genome.wustl.edu 37 1 214818761 214818763 + In_Frame_Del DEL GAA GAA - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 214818761 214818763 GAA - DEL CENPF ENST00000366955 human ensembl 69_37n +1 known in_frame_del c.5848_5850 p.E1952in_frame_del 0.995:1.000:1.000 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_Centromere_CenpF_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 174 0 0.00 182 42 18.75 - - - CERS2 0 genome.wustl.edu 37 1 150939652 150939652 + Silent SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 150939652 150939652 A G SNP CERS2 ENST00000271688 human ensembl 69_37n -1 known silent c.639 p.H213 0.857 pirsf_Longevity_assurance_LAG1_LAC1,pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom 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 251 0 0.00 208 38 15.45 - - - CFB 0 genome.wustl.edu 37 6 31914322 31914322 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 31914322 31914322 G A SNP CFB ENST00000460718 human ensembl 69_37n +1 known missense c.124 p.G42R 0.001 NULL NULL - no_errors CFB HGNC ENSG00000243649 73 0 0.00 49 15 23.44 - - - CGB2 0 genome.wustl.edu 37 19 49536219 49536219 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 49536219 49536219 G A SNP CGB2 ENST00000359342 human ensembl 69_37n +1 known missense c.233 p.R78H 0.644 pfam_Cys_knot,smart_Gonadotropin_bsu pfam_Cys_knot,smart_Gonadotropin_bsu - no_errors CGB2 HGNC ENSG00000104818 17 0 0.00 11 10 47.62 - - - CHD1 0 genome.wustl.edu 37 5 98223850 98223851 + Frame_Shift_Ins INS - - T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 98223850 98223851 - T INS CHD1 ENST00000284049 human ensembl 69_37n -1 known frame_shift_ins c.2438_2437 p.M813fs 1.000:1.000 pfscan_Helicase_C pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD1 HGNC ENSG00000153922 42 0 0.00 23 21 47.73 - - - CHD9 0 genome.wustl.edu 37 16 53296923 53296923 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 16 53296923 53296923 C T SNP CHD9 ENST00000398510 human ensembl 69_37n +1 known missense c.4234 p.R1412W 1.000 NULL 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 117 1 0.84 102 39 27.66 - - - CHST1 0 genome.wustl.edu 37 11 45671375 45671375 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 45671375 45671375 C T SNP CHST1 ENST00000308064 human ensembl 69_37n -1 known missense c.1099 p.D367N 1.000 pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase - no_errors CHST1 HGNC ENSG00000175264 28 0 0.00 24 4 14.29 - - - CIT 0 genome.wustl.edu 37 12 120152115 120152115 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 120152115 120152115 C T SNP CIT ENST00000261833 human ensembl 69_37n -1 known missense c.4067 p.R1356H 1.000 pirsf_Citron_Rho-interacting_kinase pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CIT HGNC ENSG00000122966 91 0 0.00 110 26 19.12 - - - CKAP2L 0 genome.wustl.edu 37 2 113498498 113498500 + In_Frame_Del DEL GAC GAC - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 GAC GAC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 113498498 113498500 GAC - DEL CKAP2L ENST00000302450 human ensembl 69_37n -1 known in_frame_del c.1909_1907 p.CL636in_frame_delF 0.012:0.008:0.007 NULL NULL - no_errors CKAP2L HGNC ENSG00000169607 183 0 0.00 153 36 18.85 - - - CKAP2L 0 genome.wustl.edu 37 2 113514376 113514376 + Missense_Mutation SNP A A T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 113514376 113514376 A T SNP CKAP2L ENST00000302450 human ensembl 69_37n -1 known missense c.572 p.I191N 0.000 NULL NULL - no_errors CKAP2L HGNC ENSG00000169607 120 0 0.00 111 52 31.90 - - - CLASRP 0 genome.wustl.edu 37 19 45556129 45556129 + Frame_Shift_Del DEL C C - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 45556129 45556129 C - DEL CLASRP ENST00000221455 human ensembl 69_37n +1 known frame_shift_del c.278 p.P95fs 0.989 pfam_SWAP_N_domain pfam_SWAP_N_domain - no_errors CLASRP HGNC ENSG00000104859 147 0 0.00 124 15 10.79 - - - CLCA1 0 genome.wustl.edu 37 1 86948050 86948052 + In_Frame_Del DEL ACA ACA - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 ACA ACA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 86948050 86948052 ACA - DEL CLCA1 ENST00000234701 human ensembl 69_37n +1 known in_frame_del c.720_722 p.Q241in_frame_del 0.413:0.771:0.753 pfam_Cl_channel_Ca,tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA1 HGNC ENSG00000016490 123 0 0.00 74 30 28.85 - - - CLCN4 0 genome.wustl.edu 37 X 10180693 10180693 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c X 10180693 10180693 G A SNP CLCN4 ENST00000380833 human ensembl 69_37n +1 known missense c.1576 p.G526S 1.000 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-4 - no_errors CLCN4 HGNC ENSG00000073464 24 0 0.00 12 15 55.56 - - - CLDN16 0 genome.wustl.edu 37 3 190120187 190120187 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 190120187 190120187 G A SNP CLDN16 ENST00000264734 human ensembl 69_37n +1 known missense c.386 p.R129H 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin16,prints_Claudin - no_errors CLDN16 HGNC ENSG00000113946 83 0 0.00 82 12 12.77 - - - CLEC16A 0 genome.wustl.edu 37 16 11065021 11065021 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 16 11065021 11065021 T C SNP CLEC16A ENST00000409790 human ensembl 69_37n +1 known missense c.532 p.F178L 1.000 pfam_Uncharacterised_FPL pfam_Uncharacterised_FPL - no_errors CLEC16A HGNC ENSG00000038532 46 0 0.00 31 5 13.89 - - - CLEC16A 0 genome.wustl.edu 37 16 11272354 11272354 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 16 11272354 11272354 C T SNP CLEC16A ENST00000409790 human ensembl 69_37n +1 known missense c.2969 p.T990I 1.000 NULL pfam_Uncharacterised_FPL - no_errors CLEC16A HGNC ENSG00000038532 57 0 0.00 36 9 20.00 - - - CLEC7A 0 genome.wustl.edu 37 12 10280420 10280421 + Frame_Shift_Ins INS - - A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 10280420 10280421 - A INS CLEC7A ENST00000304084 human ensembl 69_37n -1 known frame_shift_ins c.128_127 p.W43fs 0.969:0.967 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors CLEC7A HGNC ENSG00000172243 18 0 0.00 15 8 34.78 - - - CLOCK 0 genome.wustl.edu 37 4 56336954 56336954 + Frame_Shift_Del DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 56336954 56336954 A - DEL CLOCK ENST00000309964 human ensembl 69_37n -1 known frame_shift_del c.368 p.L123fs 1.000 pfam_PAS_fold,smart_PAS,pfscan_PAS,prints_Nuc_translocat pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_DNA-bd,prints_Nuc_translocat - no_errors CLOCK HGNC ENSG00000134852 79 0 0.00 66 25 27.17 - - - CMKLR1 0 genome.wustl.edu 37 12 108686289 108686289 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 108686289 108686289 G A SNP CMKLR1 ENST00000312143 human ensembl 69_37n -1 known missense c.451 p.R151C 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Frt_met_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_DEZorph_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Frt_met_rcpt,prints_Anphylx_rcpt,prints_ATII_rcpt - no_errors CMKLR1 HGNC ENSG00000174600 191 0 0.00 118 26 18.06 - - - CNGA3 0 genome.wustl.edu 37 2 99006235 99006235 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 99006235 99006235 C T SNP CNGA3 ENST00000272602 human ensembl 69_37n +1 known silent c.564 p.C188 1.000 NULL pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA3 HGNC ENSG00000144191 76 0 0.00 58 20 25.64 - - - CNOT3 0 genome.wustl.edu 37 19 54649495 54649495 + Missense_Mutation SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 54649495 54649495 G T SNP CNOT3 ENST00000221232 human ensembl 69_37n +1 known missense c.645 p.Q215H 1.000 pfam_Not_N,pirsf_CCR4-NOT_su3/5 pfam_Not_N,pfam_NOT,pirsf_CCR4-NOT_su3/5 - no_errors CNOT3 HGNC ENSG00000088038 112 0 0.00 64 16 20.00 - - - CNOT4 0 genome.wustl.edu 37 7 135100012 135100012 + Splice_Site SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 7 135100012 135100012 C A SNP CNOT4 ENST00000541284 human ensembl 69_37n -1 known splice_site c.373-1 e3-1 1.000 - - - no_errors CNOT4 HGNC ENSG00000080802 241 0 0.00 200 25 11.11 - - - CNPPD1 0 genome.wustl.edu 37 2 220037413 220037413 + Frame_Shift_Del DEL G G - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 220037413 220037413 G - DEL CNPPD1 ENST00000360507 human ensembl 69_37n -1 known frame_shift_del c.1128 p.W377fs 0.041 NULL pfam_Cyclin_PHO80-like,superfamily_Cyclin-like - no_errors CNPPD1 HGNC ENSG00000115649 64 0 0.00 41 9 17.65 - - - CNTN6 0 genome.wustl.edu 37 3 1337403 1337403 + Frame_Shift_Del DEL G G - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 1337403 1337403 G - DEL CNTN6 ENST00000350110 human ensembl 69_37n +1 known frame_shift_del c.573 p.G192fs 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN6 HGNC ENSG00000134115 101 0 0.00 97 27 21.60 - - - CNTNAP2 0 genome.wustl.edu 37 7 147336368 147336368 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 7 147336368 147336368 T C SNP CNTNAP2 ENST00000361727 human ensembl 69_37n +1 known missense c.2068 p.C690R 1.000 NULL pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EGF-like_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,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 144 0 0.00 129 30 18.87 - - - CNTNAP5 0 genome.wustl.edu 37 2 124783203 124783203 + RNA SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 124783203 124783203 G A SNP CNTNAP5 ENST00000423939 human ensembl 69_37n +1 putative rna NULL NULL 0.316 - - - no_errors CNTNAP5 HGNC ENSG00000155052 66 0 0.00 39 7 15.22 - - - COBLL1 0 genome.wustl.edu 37 2 165548780 165548781 + Frame_Shift_Del DEL CT CT - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 165548780 165548781 CT - DEL COBLL1 ENST00000194871 human ensembl 69_37n -1 known frame_shift_del c.3566_3565 p.S1189fs 1.000:1.000 pfscan_WH2_dom pfam_Cordon-bleu_domain,pfscan_WH2_dom - no_errors COBLL1 HGNC ENSG00000082438 70 0 0.00 64 12 15.79 - - - COG6 0 genome.wustl.edu 37 13 40253985 40253986 + RNA INS - - A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 13 40253985 40253986 - A INS COG6 ENST00000465775 human ensembl 69_37n +1 known rna NULL NULL 0.000:0.000 - - - no_errors COG6 HGNC ENSG00000133103 27 0 0.00 27 7 20.59 - - - COIL 0 genome.wustl.edu 37 17 55027622 55027622 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 55027622 55027622 G A SNP COIL ENST00000240316 human ensembl 69_37n -1 known silent c.981 p.C327 0.000 NULL NULL - no_errors COIL HGNC ENSG00000121058 139 0 0.00 151 40 20.94 - - - COL19A1 0 genome.wustl.edu 37 6 70897842 70897842 + Missense_Mutation SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 70897842 70897842 G T SNP COL19A1 ENST00000322773 human ensembl 69_37n +1 known missense c.2920 p.G974C 1.000 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl,smart_Laminin_G - no_errors COL19A1 HGNC ENSG00000082293 159 0 0.00 116 34 22.67 - - - COL19A1 0 genome.wustl.edu 37 6 70916894 70916894 + Frame_Shift_Del DEL C C - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 70916894 70916894 C - DEL COL19A1 ENST00000322773 human ensembl 69_37n +1 known frame_shift_del c.3345 p.P1117fs 0.958 NULL pfam_Collagen,superfamily_ConA-like_lec_gl,smart_Laminin_G - no_errors COL19A1 HGNC ENSG00000082293 210 0 0.00 200 31 13.25 - - - COL22A1 0 genome.wustl.edu 37 8 139629192 139629192 + Nonsense_Mutation SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 8 139629192 139629192 C A SNP COL22A1 ENST00000303045 human ensembl 69_37n -1 known nonsense c.3835 p.G1279* 1.000 pfam_Collagen pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 56 0 0.00 51 6 10.53 - - - COL27A1 0 genome.wustl.edu 37 9 116940622 116940622 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 116940622 116940622 C T SNP COL27A1 ENST00000356083 human ensembl 69_37n +1 known missense c.1960 p.R654W 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL27A1 HGNC ENSG00000196739 74 0 0.00 30 22 42.31 - - - COL4A3 0 genome.wustl.edu 37 2 228119378 228119378 + Missense_Mutation SNP C C G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 228119378 228119378 C G SNP COL4A3 ENST00000396578 human ensembl 69_37n +1 known missense c.835 p.P279A 0.984 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A3 HGNC ENSG00000169031 141 0 0.00 173 33 15.94 - - - COL4A3 0 genome.wustl.edu 37 2 228128655 228128655 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 228128655 228128655 C T SNP COL4A3 ENST00000396578 human ensembl 69_37n +1 known missense c.1310 p.P437L 0.994 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A3 HGNC ENSG00000169031 58 0 0.00 31 25 44.64 - - - COL5A1 0 genome.wustl.edu 37 9 137619148 137619148 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 137619148 137619148 C T SNP COL5A1 ENST00000371817 human ensembl 69_37n +1 known missense c.691 p.R231W 1.000 superfamily_ConA-like_lec_gl pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 68 0 0.00 44 8 15.38 - - - COL5A3 0 genome.wustl.edu 37 19 10071553 10071553 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 10071553 10071553 T C SNP COL5A3 ENST00000264828 human ensembl 69_37n -1 known missense c.4865 p.D1622G 0.982 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A3 HGNC ENSG00000080573 116 0 0.00 73 19 20.65 - - - COL5A3 0 genome.wustl.edu 37 19 10102688 10102688 + Missense_Mutation SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 10102688 10102688 C A SNP COL5A3 ENST00000264828 human ensembl 69_37n -1 known missense c.1885 p.G629C 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A3 HGNC ENSG00000080573 190 0 0.00 133 23 14.74 - - - COL5A3 0 genome.wustl.edu 37 19 10103507 10103507 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 10103507 10103507 C T SNP COL5A3 ENST00000264828 human ensembl 69_37n -1 known missense c.1844 p.R615H 0.986 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A3 HGNC ENSG00000080573 85 0 0.00 62 15 19.48 - - - COL6A3 0 genome.wustl.edu 37 2 238274657 238274657 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 238274657 238274657 A G SNP COL6A3 ENST00000295550 human ensembl 69_37n -1 known missense c.5522 p.L1841P 1.000 smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 104 0 0.00 117 18 13.33 - - - COL8A1 0 genome.wustl.edu 37 3 99514534 99514534 + Frame_Shift_Del DEL C C - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 99514534 99514534 C - DEL COL8A1 ENST00000261037 human ensembl 69_37n +1 known frame_shift_del c.1789 p.H599fs 0.314 NULL pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL8A1 HGNC ENSG00000144810 40 0 0.00 40 12 23.08 - - - COPA 0 genome.wustl.edu 37 1 160276146 160276146 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 160276146 160276146 C T SNP COPA ENST00000368069 human ensembl 69_37n -1 known silent c.1440 p.K480 1.000 pfam_Coatomer_WD-assoc_reg,pirsf_Coatomer_asu pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors COPA HGNC ENSG00000122218 161 0 0.00 182 41 18.39 - - - COPG1 0 genome.wustl.edu 37 3 128990673 128990673 + Missense_Mutation SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 128990673 128990673 C A SNP COPG1 ENST00000314797 human ensembl 69_37n +1 known missense c.1907 p.P636H 1.000 pfam_Coatomer_gsu_app,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_Coatomer_gsu pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_gsu_app,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_Coatomer/calthrin_app_sub_C,pirsf_Coatomer_gsu - no_errors COPG1 HGNC ENSG00000181789 39 0 0.00 25 4 13.79 - - - CORIN 0 genome.wustl.edu 37 4 47663872 47663872 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 47663872 47663872 C T SNP CORIN ENST00000273857 human ensembl 69_37n -1 known missense c.1591 p.A531T 0.870 pirsf_Peptidase_S1A_corin,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pirsf_Peptidase_S1A_corin,pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_Frizzled_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Frizzled_dom,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors CORIN HGNC ENSG00000145244 109 0 0.00 93 20 17.70 - - - CPSF3 0 genome.wustl.edu 37 2 9597112 9597112 + Frame_Shift_Del DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 9597112 9597112 A - DEL CPSF3 ENST00000238112 human ensembl 69_37n +1 known frame_shift_del c.1654 p.N553fs 1.000 pfam_CPSF73-100_C pfam_CPSF73-100_C,pfam_Beta_Casp,pfam_Beta-lactamas-like,pfam_RMMBL,smart_Beta-lactamas-like - no_errors CPSF3 HGNC ENSG00000119203 67 0 0.00 57 17 22.37 - - - CR1 0 genome.wustl.edu 37 1 207697123 207697123 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 207697123 207697123 G A SNP CR1 ENST00000367049 human ensembl 69_37n +1 known missense c.655 p.D219N 0.046 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 CR1 HGNC ENSG00000203710 141 0 0.00 97 91 48.40 - - - CRNKL1 0 genome.wustl.edu 37 20 20018110 20018111 + Frame_Shift_Del DEL CA CA - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 20 20018110 20018111 CA - DEL CRNKL1 ENST00000377340 human ensembl 69_37n -1 known frame_shift_del c.2236_2235 p.C745fs 1.000:1.000 NULL pfam_HAT,pfam_Suf,smart_HAT,pfscan_TPR-contain_dom - no_errors CRNKL1 HGNC ENSG00000101343 487 0 0.00 365 45 10.90 - - - CSAD 0 genome.wustl.edu 37 12 53555122 53555122 + Frame_Shift_Del DEL C C - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 53555122 53555122 C - DEL CSAD ENST00000267085 human ensembl 69_37n -1 known frame_shift_del c.835 p.A279fs 1.000 pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors CSAD HGNC ENSG00000139631 60 0 0.00 40 9 18.00 - - - CSDA 0 genome.wustl.edu 37 12 10854894 10854894 + RNA SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 10854894 10854894 C T SNP CSDA ENST00000366286 human ensembl 69_37n -1 known rna NULL NULL 0.078 - - - no_errors CSDA HGNC ENSG00000060138 14 0 0.00 6 9 60.00 - - - CSF1 0 genome.wustl.edu 37 1 110466430 110466431 + Frame_Shift_Ins INS - - C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 110466430 110466431 - C INS CSF1 ENST00000329608 human ensembl 69_37n +1 known frame_shift_ins c.1187_1188 p.E399fs 0.004:0.001 pfam_MCSF-1,pirsf_MCSF-1 pfam_MCSF-1,superfamily_4_helix_cytokine-like_core,pirsf_MCSF-1 - no_errors CSF1 HGNC ENSG00000184371 171 0 0.00 79 31 28.18 - - - CSF2RB 0 genome.wustl.edu 37 22 37334116 37334116 + Missense_Mutation SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 22 37334116 37334116 C A SNP CSF2RB ENST00000262825 human ensembl 69_37n +1 known missense c.2284 p.P762T 0.000 pirsf_IL3_rcpt_beta pirsf_IL3_rcpt_beta,pfam_Fibronectin_type3,pfam_IL6_recept-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF2RB HGNC ENSG00000100368 65 0 0.00 42 11 20.75 - - - CSPP1 0 genome.wustl.edu 37 8 68007969 68007969 + Splice_Site SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 8 68007969 68007969 T C SNP CSPP1 ENST00000262210 human ensembl 69_37n +1 known splice_site c.950+2 e6+2 1.000 - - - no_errors CSPP1 HGNC ENSG00000104218 94 0 0.00 99 22 18.18 - - - CSPP1 0 genome.wustl.edu 37 8 68070684 68070684 + Silent SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 8 68070684 68070684 T C SNP CSPP1 ENST00000262210 human ensembl 69_37n +1 known silent c.2229 p.I743 1.000 NULL NULL - no_errors CSPP1 HGNC ENSG00000104218 103 0 0.00 71 26 26.80 - - - CTNNA2 0 genome.wustl.edu 37 2 80846327 80846327 + Frame_Shift_Del DEL G G - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 80846327 80846327 G - DEL CTNNA2 ENST00000402739 human ensembl 69_37n +1 putative frame_shift_del c.2548 p.S851fs 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 33 0 0.00 19 7 25.93 - - - CXCL10 0 genome.wustl.edu 37 4 76943950 76943950 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 76943950 76943950 C T SNP CXCL10 ENST00000306602 human ensembl 69_37n -1 known missense c.82 p.V28I 0.004 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXC - no_errors CXCL10 HGNC ENSG00000169245 186 0 0.00 200 40 16.60 - - - CXorf22 0 genome.wustl.edu 37 X 35989719 35989719 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c X 35989719 35989719 T C SNP CXorf22 ENST00000297866 human ensembl 69_37n +1 known missense c.1987 p.Y663H 0.000 NULL superfamily_PapD-like - no_errors CXorf22 HGNC ENSG00000165164 63 0 0.00 46 9 16.36 - - - CYP24A1 0 genome.wustl.edu 37 20 52779169 52779169 + RNA SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 20 52779169 52779169 G A SNP CYP24A1 ENST00000487593 human ensembl 69_37n -1 putative rna NULL NULL 0.000 - - - no_errors CYP24A1 HGNC ENSG00000019186 46 0 0.00 35 24 40.68 - - - CYP2A13 0 genome.wustl.edu 37 19 41595975 41595975 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 41595975 41595975 C T SNP CYP2A13 ENST00000330436 human ensembl 69_37n +1 known missense c.367 p.R123C 0.616 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP2A13 HGNC ENSG00000197838 26 0 0.00 18 12 40.00 - - - CYP2C19 0 genome.wustl.edu 37 10 96612637 96612637 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 96612637 96612637 C T SNP CYP2C19 ENST00000371321 human ensembl 69_37n +1 known missense c.1439 p.P480L 0.723 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2C19 HGNC ENSG00000165841 368 0 0.00 238 82 25.47 - - - CYP2F1 0 genome.wustl.edu 37 19 41627938 41627938 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 41627938 41627938 T C SNP CYP2F1 ENST00000331105 human ensembl 69_37n +1 known missense c.722 p.L241P 0.982 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_CYP2_fam,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2F1 HGNC ENSG00000197446 70 0 0.00 64 13 16.88 - - - CYP4B1 0 genome.wustl.edu 37 1 47280919 47280919 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 47280919 47280919 C T SNP CYP4B1 ENST00000371923 human ensembl 69_37n +1 known silent c.1056 p.D352 0.191 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4B1 HGNC ENSG00000142973 58 0 0.00 26 7 21.21 - - - DAAM1 0 genome.wustl.edu 37 14 59835466 59835468 + In_Frame_Del DEL AGG AGG - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 14 59835466 59835468 AGG - DEL DAAM1 ENST00000351081 human ensembl 69_37n +1 known in_frame_del c.3126_3128 p.G1043in_frame_del 0.708:1.000:1.000 smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_Actin-bd_FH2/DRF_autoreg - no_errors DAAM1 HGNC ENSG00000100592 148 0 0.00 53 38 41.30 - - - DBC1 0 genome.wustl.edu 37 9 121930446 121930446 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 121930446 121930446 C T SNP DBC1 ENST00000265922 human ensembl 69_37n -1 known missense c.1202 p.G401E 1.000 NULL pfam_MACPF,smart_MACPF - no_errors DBC1 HGNC ENSG00000078725 41 0 0.00 24 9 27.27 - - - DBF4 0 genome.wustl.edu 37 7 87525812 87525812 + Silent SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 7 87525812 87525812 A G SNP DBF4 ENST00000265728 human ensembl 69_37n +1 known silent c.621 p.A207 0.220 NULL pfam_Znf_DBF,superfamily_BRCT_dom,smart_Znf_DBF - no_errors DBF4 HGNC ENSG00000006634 32 0 0.00 15 16 51.61 - - - DCBLD1 0 genome.wustl.edu 37 6 117840981 117840981 + Missense_Mutation SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 117840981 117840981 C A SNP DCBLD1 ENST00000338728 human ensembl 69_37n +1 known missense c.328 p.P110T 0.997 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_Coagulation_fac_5/8-C_type_dom,pfam_LCCL,pfam_CUB,superfamily_Galactose-bd-like,superfamily_LCCL,superfamily_CUB,smart_CUB,smart_LCCL,smart_Coagulation_fac_5/8-C_type_dom,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_LCCL - no_errors DCBLD1 HGNC ENSG00000164465 63 0 0.00 35 26 42.62 - - - DCC 0 genome.wustl.edu 37 18 50432613 50432613 + Frame_Shift_Del DEL G G - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 18 50432613 50432613 G - DEL DCC ENST00000442544 human ensembl 69_37n +1 known frame_shift_del c.612 p.D206fs 0.913 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DCC HGNC ENSG00000187323 100 0 0.00 89 11 10.78 - - - DCST1 0 genome.wustl.edu 37 1 155014270 155014270 + Missense_Mutation SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 155014270 155014270 C A SNP DCST1 ENST00000295542 human ensembl 69_37n +1 known missense c.829 p.P277T 0.999 NULL pfam_DC_STAMP-like,pfscan_Znf_RING - no_errors DCST1 HGNC ENSG00000163357 80 0 0.00 69 8 10.39 - - - DCT 0 genome.wustl.edu 37 13 95117943 95117943 + Missense_Mutation SNP A A T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 13 95117943 95117943 A T SNP DCT ENST00000446125 human ensembl 69_37n -1 known missense c.807 p.D269E 1.000 pfam_Tyrosinase,superfamily_Unchr_di-copper_centre pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors DCT HGNC ENSG00000080166 76 0 0.00 86 12 12.24 - - - DDX27 0 genome.wustl.edu 37 20 47858504 47858504 + Frame_Shift_Del DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 20 47858504 47858504 A - DEL DDX27 ENST00000371764 human ensembl 69_37n +1 known frame_shift_del c.2065 p.K691fs 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX27 HGNC ENSG00000124228 150 0 0.00 116 18 13.43 - - - DDX42 0 genome.wustl.edu 37 17 61890689 61890689 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 61890689 61890689 G A SNP DDX42 ENST00000389924 human ensembl 69_37n +1 known missense c.1777 p.G593S 1.000 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX42 HGNC ENSG00000198231 174 0 0.00 89 58 39.46 - - - DDX54 0 genome.wustl.edu 37 12 113618756 113618758 + In_Frame_Del DEL CTT CTT - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 113618756 113618758 CTT - DEL DDX54 ENST00000314045 human ensembl 69_37n -1 known in_frame_del c.282_280 p.K94in_frame_del 0.990:1.000:1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DBP10CT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX54 HGNC ENSG00000123064 95 0 0.00 53 6 10.17 - - - DEF6 0 genome.wustl.edu 37 6 35287432 35287432 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 35287432 35287432 G A SNP DEF6 ENST00000316637 human ensembl 69_37n +1 known silent c.1347 p.R449 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DEF6 HGNC ENSG00000023892 49 0 0.00 28 12 30.00 - - - DEGS1 0 genome.wustl.edu 37 1 224377462 224377462 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 224377462 224377462 A G SNP DEGS1 ENST00000323699 human ensembl 69_37n +1 known missense c.266 p.H89R 1.000 pfam_Fatty_acid_desaturase-1,pirsf_Sphingolipid_d4-desaturase pfam_Fatty_acid_desaturase-1,pfam_Sphingolipid_d4-desaturase_N,pirsf_Sphingolipid_d4-desaturase - no_errors DEGS1 HGNC ENSG00000143753 205 0 0.00 122 133 52.16 - - - DENND2A 0 genome.wustl.edu 37 7 140268612 140268612 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 7 140268612 140268612 C T SNP DENND2A ENST00000275884 human ensembl 69_37n -1 known silent c.1542 p.V514 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2A HGNC ENSG00000146966 88 0 0.00 84 18 17.65 - - - DENND5A 0 genome.wustl.edu 37 11 9165779 9165779 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 9165779 9165779 G A SNP DENND5A ENST00000328194 human ensembl 69_37n -1 known silent c.3169 p.L1057 1.000 superfamily_Lipase_LipOase,pfscan_LipOase_LH2 pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run - no_errors DENND5A HGNC ENSG00000184014 78 0 0.00 70 13 15.66 - - - DET1 0 genome.wustl.edu 37 15 89073859 89073859 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 15 89073859 89073859 A G SNP DET1 ENST00000444300 human ensembl 69_37n -1 known missense c.1111 p.S371P 0.993 pfam_De-etiolated_protein_1_Det1 pfam_De-etiolated_protein_1_Det1 - no_errors DET1 HGNC ENSG00000140543 66 0 0.00 51 26 33.77 - - - DHFRL1 0 genome.wustl.edu 37 3 93780312 93780312 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 93780312 93780312 A G SNP DHFRL1 ENST00000314636 human ensembl 69_37n -1 known missense c.44 p.M15T 1.000 pfam_DHFR_dom,superfamily_DHFR-like_dom pfam_DHFR_dom,superfamily_DHFR-like_dom,prints_DHFR - no_errors DHFRL1 HGNC ENSG00000178700 109 0 0.00 75 14 15.73 - - - DHX16 0 genome.wustl.edu 37 6 30621048 30621048 + Frame_Shift_Del DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 30621048 30621048 T - DEL DHX16 ENST00000376442 human ensembl 69_37n -1 known frame_shift_del c.3097 p.I1033fs 0.987 NULL pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX16 HGNC ENSG00000204560 108 0 0.00 68 16 19.05 - - - DHX33 0 genome.wustl.edu 37 17 5354241 5354241 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 5354241 5354241 C T SNP DHX33 ENST00000572490 human ensembl 69_37n -1 novel missense c.1138 p.G380S 0.235 smart_Helicase-assoc_dom pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DHX33 HGNC ENSG00000005100 185 0 0.00 169 54 24.22 - - - DHX8 0 genome.wustl.edu 37 17 41601127 41601129 + In_Frame_Del DEL AGA AGA - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 41601127 41601129 AGA - DEL DHX8 ENST00000262415 human ensembl 69_37n +1 known in_frame_del c.3575_3577 p.K1194in_frame_del 1.000:1.000:1.000 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX8 HGNC ENSG00000067596 134 0 0.00 76 30 28.04 - - - DIP2A 0 genome.wustl.edu 37 21 47974118 47974118 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 21 47974118 47974118 C T SNP DIP2A ENST00000318711 human ensembl 69_37n +1 known missense c.3070 p.H1024Y 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2A HGNC ENSG00000160305 48 0 0.00 31 5 13.89 - - - DIS3 0 genome.wustl.edu 37 13 73337683 73337684 + Frame_Shift_Ins INS - - T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 13 73337683 73337684 - T INS DIS3 ENST00000377767 human ensembl 69_37n -1 known frame_shift_ins c.2033_2032 p.I678fs 1.000:1.000 pfam_RNase_II/R,smart_RNase_II/R pfam_RNase_II/R,smart_PINc_nuc-bd,smart_RNase_II/R - no_errors DIS3 HGNC ENSG00000083520 164 0 0.00 124 27 17.88 - - - DKC1 0 genome.wustl.edu 37 X 154005088 154005089 + In_Frame_Ins INS - - AAG TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c X 154005088 154005089 - AAG INS DKC1 ENST00000369550 human ensembl 69_37n +1 known in_frame_ins c.1491_1492 p.501in_frame_insK 0.114:0.284 NULL pfam_Dyskerin-like,pfam_PsdUridine_synth,pfam_PUA,superfamily_PsdUridine_synth_cat_dom,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,tigrfam_Pseudouridine_synthase-related,tigrfam_Uncharacterised_CHP00451 - no_errors DKC1 HGNC ENSG00000130826 72 0 0.00 17 8 32.00 - - - DLAT 0 genome.wustl.edu 37 11 111930667 111930667 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 111930667 111930667 G A SNP DLAT ENST00000280346 human ensembl 69_37n +1 known missense c.1555 p.A519T 0.982 pfam_2-oxoacid_DH_actylTfrase,tigrfam_AcTrfase_Pyrv_DH_cplx_L pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl,tigrfam_AcTrfase_Pyrv_DH_cplx_L - no_errors DLAT HGNC ENSG00000150768 99 0 0.00 44 18 29.03 - - - DLC1 0 genome.wustl.edu 37 8 12957997 12957997 + Frame_Shift_Del DEL G G - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 8 12957997 12957997 G - DEL DLC1 ENST00000276297 human ensembl 69_37n -1 known frame_shift_del c.1849 p.R617fs 0.834 NULL pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 70 0 0.00 44 16 25.81 - - - DLEC1 0 genome.wustl.edu 37 3 38141824 38141824 + Frame_Shift_Del DEL G G - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 38141824 38141824 G - DEL DLEC1 ENST00000346219 human ensembl 69_37n +1 known frame_shift_del c.2772 p.E926fs 1.000 NULL superfamily_PapD-like - no_errors DLEC1 HGNC ENSG00000008226 145 0 0.00 66 11 14.10 - - - DMD 0 genome.wustl.edu 37 X 31525513 31525513 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c X 31525513 31525513 T C SNP DMD ENST00000357033 human ensembl 69_37n -1 known missense c.8275 p.S2759G 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 68 0 0.00 54 18 25.00 - - - DMD 0 genome.wustl.edu 37 X 31697691 31697691 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c X 31697691 31697691 T C SNP DMD ENST00000357033 human ensembl 69_37n -1 known missense c.7673 p.Q2558R 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 97 0 0.00 80 27 25.23 - - - DMD 0 genome.wustl.edu 37 X 32456489 32456489 + Nonsense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c X 32456489 32456489 G A SNP DMD ENST00000357033 human ensembl 69_37n -1 known nonsense c.3940 p.R1314* 0.998 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 96 0 0.00 79 21 21.00 - - - DMD 0 genome.wustl.edu 37 X 32482721 32482722 + Frame_Shift_Ins INS - - T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c X 32482721 32482722 - T INS DMD ENST00000357033 human ensembl 69_37n -1 known frame_shift_ins c.3258_3257 p.Q1087fs 0.990:1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 340 0 0.00 158 129 44.95 - - - DMD 0 genome.wustl.edu 37 X 33229446 33229446 + RNA SNP C C G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c X 33229446 33229446 C G SNP DMD ENST00000463609 human ensembl 69_37n -1 known rna NULL NULL 0.994 - - - no_errors DMD HGNC ENSG00000198947 45 0 0.00 30 5 14.29 - - - DMXL2 0 genome.wustl.edu 37 15 51787275 51787275 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 15 51787275 51787275 T C SNP DMXL2 ENST00000543779 human ensembl 69_37n -1 known missense c.4729 p.T1577A 1.000 pfam_Rav1p_C pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 126 1 0.79 100 28 21.88 - - - DNA2 0 genome.wustl.edu 37 10 70231698 70231698 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 70231698 70231698 A G SNP DNA2 ENST00000399180 human ensembl 69_37n -1 known missense c.182 p.F61S 0.008 NULL pfam_DNA_replication_fac_Dna2 - no_errors DNA2 HGNC ENSG00000138346 18 0 0.00 16 5 23.81 - - - DNAH10 0 genome.wustl.edu 37 12 124350591 124350591 + Frame_Shift_Del DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 124350591 124350591 A - DEL DNAH10 ENST00000409039 human ensembl 69_37n +1 known frame_shift_del c.6784 p.K2263fs 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 94 0 0.00 77 17 18.09 - - - DNAH17 0 genome.wustl.edu 37 17 76567673 76567673 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 76567673 76567673 T C SNP DNAH17 ENST00000389840 human ensembl 69_37n -1 known missense c.731 p.Q244R 1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 31 0 0.00 20 7 25.93 - - - DNAH3 0 genome.wustl.edu 37 16 21033368 21033368 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 16 21033368 21033368 G A SNP DNAH3 ENST00000261383 human ensembl 69_37n -1 known missense c.5701 p.H1901Y 0.013 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 37 0 0.00 56 12 17.39 - - - DNAH5 0 genome.wustl.edu 37 5 13766212 13766212 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 13766212 13766212 C T SNP DNAH5 ENST00000265104 human ensembl 69_37n -1 known missense c.9974 p.C3325Y 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 113 0 0.00 107 22 17.05 - - - DNAH7 0 genome.wustl.edu 37 2 196681536 196681536 + Missense_Mutation SNP C C G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 196681536 196681536 C G SNP DNAH7 ENST00000312428 human ensembl 69_37n -1 known missense c.9577 p.E3193Q 0.999 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2 - no_errors DNAH7 HGNC ENSG00000118997 185 0 0.00 186 29 13.49 - - - DNAH7 0 genome.wustl.edu 37 2 196801374 196801374 + Frame_Shift_Del DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 196801374 196801374 A - DEL DNAH7 ENST00000312428 human ensembl 69_37n -1 known frame_shift_del c.3221 p.L1074fs 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2 - no_errors DNAH7 HGNC ENSG00000118997 153 0 0.00 139 80 36.04 - - - DNAH8 0 genome.wustl.edu 37 6 38816439 38816440 + Frame_Shift_Ins INS - - A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 38816439 38816440 - A INS DNAH8 ENST00000359357 human ensembl 69_37n +1 known frame_shift_ins c.4410_4411 p.N1472fs 1.000:1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 68 0 0.00 56 9 13.85 - - - DNAH9 0 genome.wustl.edu 37 17 11790216 11790216 + Silent SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 11790216 11790216 C A SNP DNAH9 ENST00000262442 human ensembl 69_37n +1 known silent c.11046 p.A3682 0.999 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 121 0 0.00 115 31 21.23 - - - DNAJA1 0 genome.wustl.edu 37 9 33034319 33034319 + Missense_Mutation SNP T T G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 33034319 33034319 T G SNP DNAJA1 ENST00000330899 human ensembl 69_37n +1 known missense c.749 p.V250G 1.000 pfam_DnaJ_C,superfamily_HSP40/DnaJ_pept-bd pfam_DnaJ_C,pfam_DnaJ_N,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_N,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_N,pfscan_DnaJ_N,pfscan_HSP_DnaJ_Cys-rich_dom,prints_Hsp_DnaJ - no_errors DNAJA1 HGNC ENSG00000086061 60 0 0.00 38 7 15.56 - - - DNAJC1 0 genome.wustl.edu 37 10 22193536 22193536 + Silent SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 22193536 22193536 A G SNP DNAJC1 ENST00000376980 human ensembl 69_37n -1 known silent c.735 p.A245 1.000 NULL pfam_DnaJ_N,pfam_SANT/Myb,superfamily_DnaJ_N,superfamily_Homeodomain-like,smart_DnaJ_N,smart_SANT/Myb,pfscan_Myb-like_dom,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC1 HGNC ENSG00000136770 65 0 0.00 52 11 17.46 - - - DNAJC11 0 genome.wustl.edu 37 1 6697264 6697264 + Silent SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 6697264 6697264 G T SNP DNAJC11 ENST00000377577 human ensembl 69_37n -1 known silent c.1518 p.A506 0.998 pfam_DnaJ-like_C11_C pfam_DnaJ-like_C11_C,pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC11 HGNC ENSG00000007923 58 0 0.00 31 7 18.42 - - - DNHD1 0 genome.wustl.edu 37 11 6540945 6540945 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 6540945 6540945 T C SNP DNHD1 ENST00000254579 human ensembl 69_37n +1 known missense c.1508 p.L503P 0.982 NULL pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy,superfamily_t-SNARE - no_errors DNHD1 HGNC ENSG00000179532 131 0 0.00 115 33 22.00 - - - DNM1P46 0 genome.wustl.edu 37 15 100341242 100341242 + RNA SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 15 100341242 100341242 C T SNP DNM1P46 ENST00000341853 human ensembl 69_37n -1 known rna NULL NULL 0.773 - - - no_errors DNM1P46 HGNC ENSG00000182397 65 0 0.00 36 4 10.00 - - - DNTT 0 genome.wustl.edu 37 10 98064268 98064268 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 98064268 98064268 G A SNP DNTT ENST00000371174 human ensembl 69_37n +1 known missense c.14 p.R5Q 0.000 pirsf_DNA_nucleotidylexotransferase pfam_DNA_pol_lambd_fingers_domain,pfam_BRCT_dom,pfam_Nucleotidyltransferase,superfamily_DNA-dir_DNA_pol_X_beta-like_N,superfamily_DNA_pol_lambd_fingers_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DNA-dir_DNA_pol_X,pirsf_DNA_nucleotidylexotransferase,pfscan_BRCT_dom,prints_DNA_nucleotidylexotransferase,prints_DNA_pol_X,prints_DNA_pol_X_beta-like - no_errors DNTT HGNC ENSG00000107447 65 0 0.00 44 17 27.42 - - - DNTTIP2 0 genome.wustl.edu 37 1 94335493 94335493 + Silent SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 94335493 94335493 G T SNP DNTTIP2 ENST00000436063 human ensembl 69_37n -1 known silent c.2185 p.R729 1.000 pfam_Fcf2 pfam_Fcf2 - no_errors DNTTIP2 HGNC ENSG00000067334 77 0 0.00 47 16 25.40 - - - DOCK11 0 genome.wustl.edu 37 X 117700116 117700116 + Frame_Shift_Del DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c X 117700116 117700116 A - DEL DOCK11 ENST00000276202 human ensembl 69_37n +1 known frame_shift_del c.842 p.K283fs 1.000 NULL pfam_DOCK,pfam_DUF3398,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK11 HGNC ENSG00000147251 305 0 0.00 157 31 16.15 - - - DOM3Z 0 genome.wustl.edu 37 6 31938177 31938177 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 31938177 31938177 G A SNP DOM3Z ENST00000337523 human ensembl 69_37n -1 known silent c.891 p.D297 0.866 pfam_RAI1 pfam_RAI1 - no_errors DOM3Z HGNC ENSG00000204348 82 0 0.00 49 6 10.91 - - - DPH2 0 genome.wustl.edu 37 1 44436768 44436768 + Silent SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 44436768 44436768 T C SNP DPH2 ENST00000255108 human ensembl 69_37n +1 known silent c.391 p.L131 0.990 pfam_DPH1/DPH2,tigrfam_DPH1/DPH2,tigrfam_DHP2_eu pfam_DPH1/DPH2,tigrfam_DPH1/DPH2,tigrfam_DHP2_eu - no_errors DPH2 HGNC ENSG00000132768 17 0 0.00 3 7 70.00 - - - DPP10 0 genome.wustl.edu 37 2 116599892 116599892 + Missense_Mutation SNP C C G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 116599892 116599892 C G SNP DPP10 ENST00000393147 human ensembl 69_37n +1 known missense c.2374 p.L792V 0.594 NULL pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP10 HGNC ENSG00000175497 103 0 0.00 104 19 15.45 - - - DPY19L2P4 0 genome.wustl.edu 37 7 89749079 89749079 + RNA SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 7 89749079 89749079 C T SNP DPY19L2P4 ENST00000497063 human ensembl 69_37n +1 known rna NULL NULL 0.299 - - - no_errors DPY19L2P4 HGNC ENSG00000235436 37 0 0.00 31 6 16.22 - - - DPY19L2P4 0 genome.wustl.edu 37 7 89753415 89753415 + RNA SNP T T A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 7 89753415 89753415 T A SNP DPY19L2P4 ENST00000497063 human ensembl 69_37n +1 known rna NULL NULL 0.996 - - - no_errors DPY19L2P4 HGNC ENSG00000235436 119 0 0.00 59 34 36.56 - - - DTX3L 0 genome.wustl.edu 37 3 122284779 122284779 + Silent SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 122284779 122284779 A G SNP DTX3L ENST00000296161 human ensembl 69_37n +1 known silent c.261 p.V87 0.365 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors DTX3L HGNC ENSG00000163840 76 0 0.00 43 10 18.87 - - - DUOX1 0 genome.wustl.edu 37 15 45457005 45457005 + Missense_Mutation SNP G G C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 15 45457005 45457005 G C SNP DUOX1 ENST00000321429 human ensembl 69_37n +1 known missense c.4562 p.G1521A 1.000 pfam_Fe_red_NAD-bd_6 pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF-hand,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_HAND_2,pfscan_Haem_peroxidase_animal - no_errors DUOX1 HGNC ENSG00000137857 324 0 0.00 95 32 25.20 - - - DUOX1 0 genome.wustl.edu 37 15 45457064 45457064 + Silent SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 15 45457064 45457064 C A SNP DUOX1 ENST00000321429 human ensembl 69_37n +1 known silent c.4621 p.R1541 1.000 NULL pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF-hand,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_HAND_2,pfscan_Haem_peroxidase_animal - no_errors DUOX1 HGNC ENSG00000137857 249 0 0.00 75 23 23.47 - - - DYNC1H1 0 genome.wustl.edu 37 14 102505055 102505055 + Missense_Mutation SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 14 102505055 102505055 C A SNP DYNC1H1 ENST00000553423 human ensembl 69_37n +1 novel missense c.355 p.L119M 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DYNC1H1 HGNC ENSG00000197102 154 0 0.00 92 16 14.81 - - - DYRK2 0 genome.wustl.edu 37 12 68052207 68052207 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 68052207 68052207 T C SNP DYRK2 ENST00000344096 human ensembl 69_37n +1 known missense c.1520 p.L507P 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors DYRK2 HGNC ENSG00000127334 199 0 0.00 159 20 11.17 - - - DZANK1 0 genome.wustl.edu 37 20 18429670 18429670 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 20 18429670 18429670 C T SNP DZANK1 ENST00000262547 human ensembl 69_37n -1 known missense c.587 p.S196N 1.000 NULL superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors DZANK1 HGNC ENSG00000089091 226 0 0.00 222 46 17.16 - - - EDEM2 0 genome.wustl.edu 37 20 33725697 33725697 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 20 33725697 33725697 C T SNP EDEM2 ENST00000374492 human ensembl 69_37n -1 known missense c.476 p.R159Q 1.000 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM2 HGNC ENSG00000088298 99 0 0.00 98 20 16.95 - - - EDN1 0 genome.wustl.edu 37 6 12294561 12294561 + Frame_Shift_Del DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 12294561 12294561 A - DEL EDN1 ENST00000379375 human ensembl 69_37n +1 known frame_shift_del c.457 p.K154fs 0.009 NULL pfam_Endothln-like_toxin,smart_Endothln-like_toxin,prints_Bibrotoxin/Sarafotoxin-D - no_errors EDN1 HGNC ENSG00000078401 281 0 0.00 261 57 17.65 - - - EFCAB11 0 genome.wustl.edu 37 14 90397926 90397926 + Silent SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 14 90397926 90397926 C A SNP EFCAB11 ENST00000316738 human ensembl 69_37n -1 known silent c.369 p.V123 1.000 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors EFCAB11 HGNC ENSG00000140025 178 0 0.00 102 18 15.00 - - - EFCAB12 0 genome.wustl.edu 37 3 129140295 129140295 + Missense_Mutation SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 129140295 129140295 G T SNP EFCAB12 ENST00000326085 human ensembl 69_37n -1 known missense c.401 p.P134H 0.001 NULL pfscan_EF_HAND_2 - no_errors EFCAB12 HGNC ENSG00000172771 128 0 0.00 69 54 43.55 - - - EFNA3 0 genome.wustl.edu 37 1 155059036 155059036 + RNA DEL G G - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 155059036 155059036 G - DEL EFNA3 ENST00000470294 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors EFNA3 HGNC ENSG00000143590 35 0 0.00 16 4 20.00 - - - EGFR 0 genome.wustl.edu 37 7 55220348 55220348 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 7 55220348 55220348 C T SNP EGFR ENST00000275493 human ensembl 69_37n +1 known silent c.738 p.S246 0.745 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors EGFR HGNC ENSG00000146648 58 0 0.00 38 15 28.30 - - - EHD1 0 genome.wustl.edu 37 11 64621973 64621973 + Silent SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 64621973 64621973 G T SNP EHD1 ENST00000320631 human ensembl 69_37n -1 known silent c.1437 p.T479 0.241 smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology - no_errors EHD1 HGNC ENSG00000110047 43 0 0.00 16 7 30.43 - - - EHD4 0 genome.wustl.edu 37 15 42211464 42211464 + Frame_Shift_Del DEL G G - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 15 42211464 42211464 G - DEL EHD4 ENST00000220325 human ensembl 69_37n -1 known frame_shift_del c.868 p.Q290fs 0.998 NULL pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology - no_errors EHD4 HGNC ENSG00000103966 65 0 0.00 31 19 38.00 - - - EIF2AK1 0 genome.wustl.edu 37 7 6078194 6078194 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 7 6078194 6078194 C T SNP EIF2AK1 ENST00000199389 human ensembl 69_37n -1 known missense c.1228 p.A410T 0.512 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors EIF2AK1 HGNC ENSG00000086232 94 0 0.00 72 15 17.05 - - - EIF2C3 0 genome.wustl.edu 37 1 36479150 36479150 + RNA DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 36479150 36479150 A - DEL EIF2C3 ENST00000479395 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors EIF2C3 HGNC ENSG00000126070 95 0 0.00 55 11 16.42 - - - EIF3L 0 genome.wustl.edu 37 22 38273869 38273869 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 22 38273869 38273869 G A SNP EIF3L ENST00000425539 human ensembl 69_37n +1 known silent c.1395 p.S465 0.025 pfam_TIF3_suL pfam_TIF3_suL - no_errors EIF3L HGNC ENSG00000100129 182 0 0.00 123 44 26.35 - - - EIF4ENIF1 0 genome.wustl.edu 37 22 31858959 31858959 + Missense_Mutation SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 22 31858959 31858959 C A SNP EIF4ENIF1 ENST00000330125 human ensembl 69_37n -1 known missense c.746 p.G249V 1.000 pfam_eIF4E_transporter pfam_eIF4E_transporter - no_errors EIF4ENIF1 HGNC ENSG00000184708 67 0 0.00 50 11 17.74 - - - EIF4G1 0 genome.wustl.edu 37 3 184039806 184039808 + In_Frame_Del DEL AGG AGG - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 184039806 184039808 AGG - DEL EIF4G1 ENST00000352767 human ensembl 69_37n +1 known in_frame_del c.1455_1457 p.G487in_frame_del 0.997:1.000:1.000 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G1 HGNC ENSG00000114867 139 0 0.00 66 34 33.66 - - - ELAC1 0 genome.wustl.edu 37 18 48510608 48510608 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 18 48510608 48510608 G A SNP ELAC1 ENST00000269466 human ensembl 69_37n +1 known silent c.300 p.R100 0.997 tigrfam_RNase_Z pfam_Beta-lactamas-like,tigrfam_RNase_Z - no_errors ELAC1 HGNC ENSG00000141642 95 0 0.00 81 13 13.83 - - - ELOVL4 0 genome.wustl.edu 37 6 80636019 80636019 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 80636019 80636019 C T SNP ELOVL4 ENST00000369816 human ensembl 69_37n -1 known silent c.180 p.V60 0.997 pfam_GNS1_SUR4 pfam_GNS1_SUR4 - no_errors ELOVL4 HGNC ENSG00000118402 81 0 0.00 73 21 22.34 - - - EMC10 0 genome.wustl.edu 37 19 50985132 50985132 + Frame_Shift_Del DEL G G - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 50985132 50985132 G - DEL EMC10 ENST00000376918 human ensembl 69_37n +1 known frame_shift_del c.693 p.A234fs 1.000 NULL NULL - no_errors EMC10 HGNC ENSG00000161671 13 0 0.00 6 5 45.45 - - - EMP3 0 genome.wustl.edu 37 19 48832705 48832707 + In_Frame_Del DEL GAG GAG - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 48832705 48832707 GAG - DEL EMP3 ENST00000270221 human ensembl 69_37n +1 known in_frame_del c.278_280 p.G95in_frame_del 0.773:0.787:1.000 pfam_PMP22/EMP/MP20/Claudin,prints_PMP22_EMP_MP20 pfam_PMP22/EMP/MP20/Claudin,prints_EMP_3,prints_PMP22_EMP_MP20 - no_errors EMP3 HGNC ENSG00000142227 88 0 0.00 72 18 20.00 - - - ENAM 0 genome.wustl.edu 37 4 71495227 71495228 + Frame_Shift_Ins INS - - T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 71495227 71495228 - T INS ENAM ENST00000396073 human ensembl 69_37n +1 known frame_shift_ins c.10_11 p.R5fs 1.000:0.998 NULL NULL - no_errors ENAM HGNC ENSG00000132464 190 0 0.00 172 36 17.31 - - - ENOSF1 0 genome.wustl.edu 37 18 677834 677834 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 18 677834 677834 C T SNP ENOSF1 ENST00000340116 human ensembl 69_37n -1 known silent c.978 p.A326 0.000 NULL pfam_Mandelate_racemase_C,pfam_Mandelate_racemase_N,smart_Mandelate_racemase_C - no_errors ENOSF1 HGNC ENSG00000132199 296 0 0.00 225 77 25.50 - - - ENSG00000256349 0 genome.wustl.edu 37 11 66290971 66290971 + Missense_Mutation SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 66290971 66290971 C A SNP ENSG00000256349 ENST00000419755 human ensembl 69_37n +1 known missense c.986 p.P329H 1.000 superfamily_Quinonprotein_ADH-like superfamily_Quinonprotein_ADH-like - no_errors CTD-3074O7.11 Clone_based_vega_gene ENSG00000256349 74 0 0.00 63 15 19.23 - - - EP400 0 genome.wustl.edu 37 12 132554138 132554138 + Silent SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 132554138 132554138 C A SNP EP400 ENST00000333577 human ensembl 69_37n +1 known silent c.9081 p.S3027 0.671 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 154 0 0.00 90 23 20.35 - - - EPB41L3 0 genome.wustl.edu 37 18 5478365 5478365 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 18 5478365 5478365 T C SNP EPB41L3 ENST00000341928 human ensembl 69_37n -1 known missense c.256 p.K86E 1.000 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors EPB41L3 HGNC ENSG00000082397 115 0 0.00 59 42 41.18 - - - EPC2 0 genome.wustl.edu 37 2 149447829 149447829 + Frame_Shift_Del DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 149447829 149447829 A - DEL EPC2 ENST00000258484 human ensembl 69_37n +1 known frame_shift_del c.200 p.E70fs 1.000 pfam_Enhancer_polycomb-like_N pfam_Enhancer_polycomb_C,pfam_Enhancer_polycomb-like_N - no_errors EPC2 HGNC ENSG00000135999 310 1 0.32 320 158 32.78 - - - EPC2 0 genome.wustl.edu 37 2 149520238 149520238 + Splice_Site SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 149520238 149520238 G T SNP EPC2 ENST00000258484 human ensembl 69_37n +1 known splice_site c.816-1 e6-1 1.000 - - - no_errors EPC2 HGNC ENSG00000135999 51 0 0.00 46 13 22.03 - - - EPG5 0 genome.wustl.edu 37 18 43469938 43469938 + RNA DEL C C - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 18 43469938 43469938 C - DEL EPG5 ENST00000587973 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors EPG5 HGNC ENSG00000152223 93 0 0.00 86 14 13.86 - - - EPHA7 0 genome.wustl.edu 37 6 93967995 93967995 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 93967995 93967995 G A SNP EPHA7 ENST00000369303 human ensembl 69_37n -1 known silent c.1932 p.F644 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHA7 HGNC ENSG00000135333 91 0 0.00 69 33 32.35 - - - EPHB4 0 genome.wustl.edu 37 7 100411556 100411556 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 7 100411556 100411556 G A SNP EPHB4 ENST00000358173 human ensembl 69_37n -1 known missense c.1676 p.A559V 0.995 pirsf_Tyr_kinase_ephrin_rcpt pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHB4 HGNC ENSG00000196411 67 0 0.00 38 13 25.49 - - - EPHB6 0 genome.wustl.edu 37 7 142566374 142566374 + Silent SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 7 142566374 142566374 A G SNP EPHB6 ENST00000392957 human ensembl 69_37n +1 known silent c.2163 p.A721 0.001 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHB6 HGNC ENSG00000106123 34 0 0.00 20 12 37.50 - - - EPSTI1 0 genome.wustl.edu 37 13 43500514 43500514 + Silent SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 13 43500514 43500514 A G SNP EPSTI1 ENST00000313640 human ensembl 69_37n -1 known silent c.615 p.S205 0.000 NULL NULL - no_errors EPSTI1 HGNC ENSG00000133106 914 0 0.00 636 319 33.30 - - - ERBB4 0 genome.wustl.edu 37 2 212615430 212615430 + Splice_Site SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 212615430 212615430 C A SNP ERBB4 ENST00000342788 human ensembl 69_37n -1 known splice_site c.557-1 e5-1 1.000 - - - no_errors ERBB4 HGNC ENSG00000178568 102 1 0.97 58 13 18.31 - - - ERCC6L2 0 genome.wustl.edu 37 9 98728878 98728878 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 98728878 98728878 C T SNP ERCC6L2 ENST00000437817 human ensembl 69_37n +1 known missense c.1448 p.A483V 1.000 pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L2 HGNC ENSG00000182150 136 0 0.00 87 16 15.53 - - - ERCC8 0 genome.wustl.edu 37 5 60187968 60187968 + RNA DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 60187968 60187968 T - DEL ERCC8 ENST00000462279 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors ERCC8 HGNC ENSG00000049167 70 0 0.00 39 17 30.36 - - - ERMP1 0 genome.wustl.edu 37 9 5805749 5805750 + Frame_Shift_Ins INS - - A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 5805749 5805750 - A INS ERMP1 ENST00000339450 human ensembl 69_37n -1 known frame_shift_ins c.1585_1584 p.D528fs 1.000:1.000 NULL pfam_Peptidase_M28,pfam_Peptidase_M20 - no_errors ERMP1 HGNC ENSG00000099219 201 1 0.50 164 28 14.58 - - - ERN1 0 genome.wustl.edu 37 17 62125279 62125279 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 62125279 62125279 G A SNP ERN1 ENST00000433197 human ensembl 69_37n -1 known missense c.2468 p.A823V 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_KEN_RNase_activator,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_cat_dom - no_errors ERN1 HGNC ENSG00000178607 81 0 0.00 63 19 22.89 - - - ESYT2 0 genome.wustl.edu 37 7 158557431 158557431 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 7 158557431 158557431 G A SNP ESYT2 ENST00000251527 human ensembl 69_37n -1 known silent c.1182 p.N394 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors ESYT2 HGNC ENSG00000117868 176 0 0.00 121 105 46.46 - - - EVI5 0 genome.wustl.edu 37 1 93073081 93073081 + RNA DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 93073081 93073081 A - DEL EVI5 ENST00000492513 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors EVI5 HGNC ENSG00000067208 30 0 0.00 20 8 27.59 - - - EWSR1 0 genome.wustl.edu 37 22 29684763 29684763 + Missense_Mutation SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 22 29684763 29684763 G T SNP EWSR1 ENST00000414183 human ensembl 69_37n +1 known missense c.980 p.R327L 1.000 NULL pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom - no_errors EWSR1 HGNC ENSG00000182944 50 0 0.00 41 9 18.00 - - - F2 0 genome.wustl.edu 37 11 46747680 46747680 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 46747680 46747680 C T SNP F2 ENST00000311907 human ensembl 69_37n +1 known silent c.831 p.A277 0.000 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pirsf_Peptidase_S1A_prothrombin,pfscan_Kringle pfam_Peptidase_S1_S6,pfam_Kringle,pfam_Thrombin_light_chain,pfam_GLA_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,superfamily_GLA_domain,smart_GLA_domain,smart_Kringle,smart_Peptidase_S1_S6,pirsf_Peptidase_S1A_prothrombin,pfscan_GLA_domain,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A_prothrombin,prints_Peptidase_S1A,prints_GLA_domain - no_errors F2 HGNC ENSG00000180210 25 0 0.00 21 5 19.23 - - - F2RL1 0 genome.wustl.edu 37 5 76129179 76129179 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 76129179 76129179 G A SNP F2RL1 ENST00000296677 human ensembl 69_37n +1 known silent c.747 p.G249 0.042 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_Pro_rcpt_2,prints_Protea_act_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_Pro_rcpt_2,prints_Protea_act_rcpt,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor,pfscan_GPCR_Rhodpsn_supfam - no_errors F2RL1 HGNC ENSG00000164251 177 0 0.00 119 33 21.71 - - - F8A1 0 genome.wustl.edu 37 X 154115715 154115715 + Missense_Mutation SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c X 154115715 154115715 C A SNP F8A1 ENST00000369446 human ensembl 69_37n +1 known missense c.1066 p.L356I 0.999 NULL NULL - no_errors F8A1 HGNC ENSG00000197932 270 0 0.00 56 9 13.85 - - - FAM116A 0 genome.wustl.edu 37 3 57647228 57647229 + Frame_Shift_Del DEL CA CA - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 57647228 57647229 CA - DEL FAM116A ENST00000311128 human ensembl 69_37n -1 known frame_shift_del c.564_563 p.V188fs 1.000:1.000 pfam_Afi1_N,pfam_Secretory_pathway_prot_Avl9,pfam_DENN_dom pfam_Afi1_N,pfam_Secretory_pathway_prot_Avl9,pfam_DENN_dom - no_errors FAM116A HGNC ENSG00000174839 48 0 0.00 12 16 55.17 - - - FAM124A 0 genome.wustl.edu 37 13 51855067 51855067 + Missense_Mutation SNP G G C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 13 51855067 51855067 G C SNP FAM124A ENST00000280057 human ensembl 69_37n +1 known missense c.1424 p.S475T 0.026 NULL NULL - no_errors FAM124A HGNC ENSG00000150510 88 0 0.00 78 11 12.36 - - - FAM135A 0 genome.wustl.edu 37 6 71235047 71235047 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 71235047 71235047 A G SNP FAM135A ENST00000418814 human ensembl 69_37n +1 known missense c.2260 p.K754E 1.000 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like,pfam_LACT/PDAT_acylTrfase - no_errors FAM135A HGNC ENSG00000082269 287 0 0.00 201 124 38.15 - - - FAM18B2 0 genome.wustl.edu 37 17 15441469 15441469 + Splice_Site SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 15441469 15441469 C T SNP FAM18B2 ENST00000523573 human ensembl 69_37n -1 known splice_site c.162-2 e5-2 0.998 - - - no_errors FAM18B2 HGNC ENSG00000175106 89 0 0.00 113 24 17.52 - - - FAM193A 0 genome.wustl.edu 37 4 2648436 2648436 + Silent SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 2648436 2648436 C A SNP FAM193A ENST00000324666 human ensembl 69_37n +1 known silent c.315 p.T105 0.997 NULL NULL - no_errors FAM193A HGNC ENSG00000125386 191 0 0.00 132 28 17.50 - - - FAM208B 0 genome.wustl.edu 37 10 5790774 5790774 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 5790774 5790774 G A SNP FAM208B ENST00000328090 human ensembl 69_37n +1 known missense c.5390 p.S1797N 0.000 NULL pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC ENSG00000108021 73 0 0.00 34 13 27.66 - - - FAM227B 0 genome.wustl.edu 37 15 49880220 49880220 + Frame_Shift_Del DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 15 49880220 49880220 T - DEL FAM227B ENST00000299338 human ensembl 69_37n -1 known frame_shift_del c.398 p.K133fs 0.999 NULL NULL - no_errors FAM227B HGNC ENSG00000166262 223 0 0.00 127 96 42.29 - - - FAM26E 0 genome.wustl.edu 37 6 116836954 116836954 + Frame_Shift_Del DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 116836954 116836954 T - DEL FAM26E ENST00000368599 human ensembl 69_37n +1 known frame_shift_del c.732 p.F246fs 1.000 NULL NULL - no_errors FAM26E HGNC ENSG00000178033 259 1 0.38 220 38 14.67 - - - FAM40A 0 genome.wustl.edu 37 1 110584393 110584393 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 110584393 110584393 G A SNP FAM40A ENST00000369795 human ensembl 69_37n +1 known missense c.795 p.M265I 1.000 pfam_N1221 pfam_DUF3402,pfam_N1221 - no_errors FAM40A HGNC ENSG00000143093 95 0 0.00 34 22 38.60 - - - FAM47B 0 genome.wustl.edu 37 X 34961255 34961255 + Missense_Mutation SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c X 34961255 34961255 C A SNP FAM47B ENST00000329357 human ensembl 69_37n +1 known missense c.307 p.L103I 0.273 NULL NULL - no_errors FAM47B HGNC ENSG00000189132 157 0 0.00 122 30 19.61 - - - FAM73A 0 genome.wustl.edu 37 1 78325075 78325075 + RNA DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 78325075 78325075 T - DEL FAM73A ENST00000476203 human ensembl 69_37n +1 known rna NULL NULL 0.150 - - - no_errors FAM73A HGNC ENSG00000180488 119 0 0.00 85 17 16.67 - - - FAM75A7 0 genome.wustl.edu 37 9 65506495 65506495 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 65506495 65506495 G A SNP FAM75A7 ENST00000355045 human ensembl 69_37n -1 known silent c.1065 p.T355 0.046 NULL NULL - no_errors FAM75A7 HGNC ENSG00000234734 498 0 0.00 359 80 18.22 - - - FAM82A1 0 genome.wustl.edu 37 2 38178783 38178783 + Frame_Shift_Del DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 38178783 38178783 T - DEL FAM82A1 ENST00000234195 human ensembl 69_37n +1 known frame_shift_del c.425 p.F144fs 0.000 NULL NULL - no_errors FAM82A1 HGNC ENSG00000115841 275 2 0.72 177 78 29.89 - - - FAM98B 0 genome.wustl.edu 37 15 38762573 38762573 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 15 38762573 38762573 C T SNP FAM98B ENST00000397609 human ensembl 69_37n +1 known silent c.498 p.D166 1.000 pfam_Uncharacterised_FAM98 pfam_Uncharacterised_FAM98 - no_errors FAM98B HGNC ENSG00000171262 41 0 0.00 38 13 25.49 - - - FANCM 0 genome.wustl.edu 37 14 45658248 45658250 + In_Frame_Del DEL GAG GAG - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 14 45658248 45658250 GAG - DEL FANCM ENST00000267430 human ensembl 69_37n +1 known in_frame_del c.5023_5025 p.E1677in_frame_del 1.000:1.000:0.997 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors FANCM HGNC ENSG00000187790 216 0 0.00 155 21 11.93 - - - FAR2 0 genome.wustl.edu 37 12 29450110 29450110 + Frame_Shift_Del DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 29450110 29450110 A - DEL FAR2 ENST00000182377 human ensembl 69_37n +1 known frame_shift_del c.522 p.I177fs 0.992 pfam_Male_sterile_NAD-bd,pfam_Epimerase_deHydtase pfam_Male_sterile_NAD-bd,pfam_Malesterile,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_Polysac_CapD-like - no_errors FAR2 HGNC ENSG00000064763 203 1 0.49 213 48 18.11 - - - FAT4 0 genome.wustl.edu 37 4 126238506 126238506 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 126238506 126238506 G A SNP FAT4 ENST00000394329 human ensembl 69_37n +1 known missense c.940 p.E314K 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 35 0 0.00 26 7 21.21 - - - FBXL14 0 genome.wustl.edu 37 12 1702885 1702885 + Silent SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 1702885 1702885 G T SNP FBXL14 ENST00000339235 human ensembl 69_37n -1 known silent c.348 p.I116 1.000 smart_Leu-rich_rpt_Cys-con_subtyp pfam_Leu-rich_rpt,pfam_F-box_dom_cyclin-like,pfam_Leu-rich_rpt_2,superfamily_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp - no_errors FBXL14 HGNC ENSG00000171823 38 0 0.00 15 10 40.00 - - - FBXO2 0 genome.wustl.edu 37 1 11709979 11709979 + RNA SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 11709979 11709979 C A SNP FBXO2 ENST00000466919 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors FBXO2 HGNC ENSG00000116661 44 0 0.00 8 7 46.67 - - - FBXO21 0 genome.wustl.edu 37 12 117610351 117610351 + Missense_Mutation SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 117610351 117610351 C A SNP FBXO21 ENST00000330622 human ensembl 69_37n -1 known missense c.938 p.R313L 1.000 superfamily_F-box_dom_cyclin-like pfam_Hemimethylated_DNA-bd_dom,superfamily_Hemimethylated_DNA-bd_dom,superfamily_F-box_dom_cyclin-like,tigrfam_Hemimethylated_DNA-bd_dom - no_errors FBXO21 HGNC ENSG00000135108 175 0 0.00 151 28 15.64 - - - FBXW4 0 genome.wustl.edu 37 10 103371089 103371089 + Missense_Mutation SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 103371089 103371089 G T SNP FBXW4 ENST00000331272 human ensembl 69_37n -1 known missense c.1198 p.L400M 0.772 superfamily_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 32 0 0.00 19 6 24.00 - - - FCGBP 0 genome.wustl.edu 37 19 40399678 40399678 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 40399678 40399678 C T SNP FCGBP ENST00000221347 human ensembl 69_37n -1 known missense c.6017 p.G2006D 0.941 superfamily_TIL_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 14 0 0.00 4 3 42.86 - - - FCGR1A 0 genome.wustl.edu 37 1 149755712 149755712 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 149755712 149755712 G A SNP FCGR1A ENST00000369168 human ensembl 69_37n +1 known missense c.206 p.S69N 0.003 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCGR1A HGNC ENSG00000150337 161 0 0.00 139 28 16.77 - - - FDX1 0 genome.wustl.edu 37 11 110333084 110333084 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 110333084 110333084 G A SNP FDX1 ENST00000260270 human ensembl 69_37n +1 known silent c.447 p.R149 0.801 pfam_2Fe-2S_ferredoxin-type,superfamily_2Fe-2S_ferredoxin-type,pfscan_2Fe-2S_ferredoxin-type,prints_Adrenodoxin pfam_2Fe-2S_ferredoxin-type,superfamily_2Fe-2S_ferredoxin-type,pfscan_2Fe-2S_ferredoxin-type,prints_Adrenodoxin - no_errors FDX1 HGNC ENSG00000137714 49 0 0.00 26 6 18.75 - - - FER 0 genome.wustl.edu 37 5 108203542 108203542 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 108203542 108203542 G A SNP FER ENST00000281092 human ensembl 69_37n +1 known missense c.556 p.V186I 1.000 pirsf_Tyr_kinase_non-rcpt_Fes_subgr pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_FCH,superfamily_Kinase-like_dom,smart_FCH,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FCH,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors FER HGNC ENSG00000151422 110 0 0.00 53 57 51.82 - - - FGF13 0 genome.wustl.edu 37 X 137939823 137939823 + Frame_Shift_Del DEL G G - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c X 137939823 137939823 G - DEL FGF13 ENST00000370603 human ensembl 69_37n -1 known frame_shift_del c.68 p.P23fs 1.000 NULL pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF,prints_GF_heparin-bd - no_errors FGF13 HGNC ENSG00000129682 210 0 0.00 94 40 29.20 - - - FGF23 0 genome.wustl.edu 37 12 4479729 4479729 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 4479729 4479729 C T SNP FGF23 ENST00000237837 human ensembl 69_37n -1 known missense c.536 p.R179Q 0.988 NULL pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF - no_errors FGF23 HGNC ENSG00000118972 50 0 0.00 37 14 27.45 - - - FGF5 0 genome.wustl.edu 37 4 81207950 81207950 + RNA SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 81207950 81207950 G A SNP FGF5 ENST00000503413 human ensembl 69_37n +1 known rna NULL NULL 0.238 - - - no_errors FGF5 HGNC ENSG00000138675 56 0 0.00 56 11 16.42 - - - FGG 0 genome.wustl.edu 37 4 155527997 155527997 + Frame_Shift_Del DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 155527997 155527997 A - DEL FGG ENST00000336098 human ensembl 69_37n -1 known frame_shift_del c.989 p.F330fs 1.000 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C pfam_Fibrinogen_a/b/g_C,pfam_Fibrinogen_a/b/g_coil_dom,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors FGG HGNC ENSG00000171557 271 0 0.00 259 43 14.19 - - - FH 0 genome.wustl.edu 37 1 241669359 241669359 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 241669359 241669359 A G SNP FH ENST00000366560 human ensembl 69_37n -1 known missense c.848 p.L283S 0.991 pfam_Lyase1_N,superfamily_L-Aspartase-like,tigrfam_Fum_hydII pfam_Lyase1_N,pfam_Fumarase_C_C,superfamily_L-Aspartase-like,prints_Fumarate_lyase,tigrfam_Fum_hydII - no_errors FH HGNC ENSG00000091483 139 0 0.00 89 40 31.01 - - - FH 0 genome.wustl.edu 37 1 241680545 241680545 + Nonsense_Mutation SNP A A C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 241680545 241680545 A C SNP FH ENST00000366560 human ensembl 69_37n -1 known nonsense c.204 p.Y68* 0.998 pfam_Lyase1_N,superfamily_L-Aspartase-like,tigrfam_Fum_hydII pfam_Lyase1_N,pfam_Fumarase_C_C,superfamily_L-Aspartase-like,prints_Fumarate_lyase,tigrfam_Fum_hydII - no_errors FH HGNC ENSG00000091483 84 0 0.00 90 22 19.47 - - - FHDC1 0 genome.wustl.edu 37 4 153864297 153864299 + In_Frame_Del DEL CCT CCT - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 CCT CCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 153864297 153864299 CCT - DEL FHDC1 ENST00000260008 human ensembl 69_37n +1 known in_frame_del c.88_90 p.P32in_frame_del 0.067:0.117:0.006 NULL pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg - no_errors FHDC1 HGNC ENSG00000137460 52 0 0.00 28 9 24.32 - - - FICD 0 genome.wustl.edu 37 12 108912608 108912608 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 108912608 108912608 C T SNP FICD ENST00000552695 human ensembl 69_37n +1 known missense c.733 p.H245Y 1.000 NULL pfam_Fido,superfamily_Fido,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors FICD HGNC ENSG00000198855 90 0 0.00 49 13 20.97 - - - FIP1L1 0 genome.wustl.edu 37 4 54319187 54319188 + Frame_Shift_Ins INS - - AG TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 54319187 54319188 - AG INS FIP1L1 ENST00000337488 human ensembl 69_37n +1 known frame_shift_ins c.1386_1387 p.D465fs 0.078:0.091 NULL pfam_Fip1 - no_errors FIP1L1 HGNC ENSG00000145216 149 0 0.00 117 13 10.00 - - - FIP1L1 0 genome.wustl.edu 37 4 54319218 54319218 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 54319218 54319218 C T SNP FIP1L1 ENST00000337488 human ensembl 69_37n +1 known missense c.1417 p.R473C 0.996 NULL pfam_Fip1 - no_errors FIP1L1 HGNC ENSG00000145216 140 0 0.00 102 26 20.31 - - - FKBP15 0 genome.wustl.edu 37 9 115959278 115959278 + Silent SNP T T A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 115959278 115959278 T A SNP FKBP15 ENST00000238256 human ensembl 69_37n -1 known silent c.798 p.S266 0.969 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,superfamily_Regulat_G_prot_signal_superfam,pfscan_PPIase_FKBP_dom - no_errors FKBP15 HGNC ENSG00000119321 230 0 0.00 162 58 26.36 - - - FKBP15 0 genome.wustl.edu 37 9 115969535 115969535 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 115969535 115969535 T C SNP FKBP15 ENST00000238256 human ensembl 69_37n -1 known missense c.211 p.T71A 0.987 NULL pfam_PPIase_FKBP_dom,superfamily_Regulat_G_prot_signal_superfam,pfscan_PPIase_FKBP_dom - no_errors FKBP15 HGNC ENSG00000119321 240 0 0.00 168 89 34.36 - - - FKBP5 0 genome.wustl.edu 37 6 35558935 35558935 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 35558935 35558935 T C SNP FKBP5 ENST00000337746 human ensembl 69_37n -1 known missense c.728 p.Y243C 1.000 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP5 HGNC ENSG00000096060 108 0 0.00 113 29 20.42 - - - FLG 0 genome.wustl.edu 37 1 152276486 152276486 + Missense_Mutation SNP G G C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 152276486 152276486 G C SNP FLG ENST00000368799 human ensembl 69_37n -1 known missense c.10876 p.H3626D 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 588 1 0.17 591 116 16.41 - - - FLJ43860 0 genome.wustl.edu 37 8 142506590 142506590 + Frame_Shift_Del DEL G G - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 8 142506590 142506590 G - DEL FLJ43860 ENST00000430863 human ensembl 69_37n -1 known frame_shift_del c.92 p.P31fs 0.000 NULL NULL - pseudogene AC100803.1 Clone_based_vega_gene ENSG00000226807 33 0 0.00 11 10 40.00 - - - FLNB 0 genome.wustl.edu 37 3 58081909 58081910 + Frame_Shift_Del DEL TG TG - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 58081909 58081910 TG - DEL FLNB ENST00000295956 human ensembl 69_37n +1 known frame_shift_del c.948_949 p.V317fs 0.998:1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC ENSG00000136068 70 0 0.00 32 7 17.95 - - - FLNC 0 genome.wustl.edu 37 7 128482402 128482402 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 7 128482402 128482402 G A SNP FLNC ENST00000325888 human ensembl 69_37n +1 known missense c.2239 p.V747I 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 22 0 0.00 4 5 55.56 - - - FMNL3 0 genome.wustl.edu 37 12 50042029 50042029 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 50042029 50042029 T C SNP FMNL3 ENST00000293590 human ensembl 69_37n -1 known missense c.2623 p.S875G 0.047 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors FMNL3 HGNC ENSG00000161791 77 0 0.00 45 11 19.64 - - - FNBP4 0 genome.wustl.edu 37 11 47738894 47738894 + RNA SNP A A T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 47738894 47738894 A T SNP FNBP4 ENST00000526109 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors FNBP4 HGNC ENSG00000109920 46 0 0.00 60 11 15.49 - - - FNDC1 0 genome.wustl.edu 37 6 159653843 159653843 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 159653843 159653843 G A SNP FNDC1 ENST00000297267 human ensembl 69_37n +1 known missense c.2299 p.V767I 0.048 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC1 HGNC ENSG00000164694 50 0 0.00 24 9 27.27 - - - FNDC3A 0 genome.wustl.edu 37 13 49772248 49772250 + In_Frame_Del DEL CTT CTT - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 13 49772248 49772250 CTT - DEL FNDC3A ENST00000492622 human ensembl 69_37n +1 known in_frame_del c.2621_2623 p.S875in_frame_del 1.000:1.000:1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC3A HGNC ENSG00000102531 201 0 0.00 180 32 15.09 - - - FOLR3 0 genome.wustl.edu 37 11 71847032 71847033 + Frame_Shift_Ins INS - - T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 71847032 71847033 - T INS FOLR3 ENST00000456237 human ensembl 69_37n +1 known frame_shift_ins c.34_35 p.L13fs 0.998:1.000 NULL pfam_Folate_rcpt-like - no_errors FOLR3 HGNC ENSG00000110203 128 0 0.00 112 25 18.25 - - - FPGT-TNNI3K 0 genome.wustl.edu 37 1 74665364 74665364 + Silent SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 74665364 74665364 T C SNP FPGT-TNNI3K ENST00000370891 human ensembl 69_37n +1 known silent c.99 p.R33 0.995 NULL pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FPGT-TNNI3K HGNC ENSG00000116783 99 0 0.00 87 21 19.27 - - - FREM2 0 genome.wustl.edu 37 13 39265314 39265314 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 13 39265314 39265314 T C SNP FREM2 ENST00000280481 human ensembl 69_37n +1 known missense c.3833 p.V1278A 0.859 superfamily_Cadherin-like pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 255 0 0.00 163 78 32.37 - - - FRG1B 0 genome.wustl.edu 37 20 29631551 29631551 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 20 29631551 29631551 C T SNP FRG1B ENST00000278882 human ensembl 69_37n +1 known missense c.347 p.A116V 1.000 pfam_FRG1 pfam_FRG1,superfamily_Actin_cross-linking - no_errors FRG1B HGNC ENSG00000149531 60 0 0.00 49 12 19.67 - - - FRG2B 0 genome.wustl.edu 37 10 135438865 135438865 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 135438865 135438865 T C SNP FRG2B ENST00000443774 human ensembl 69_37n -1 known missense c.578 p.Q193R 0.591 NULL NULL - no_errors FRG2B HGNC ENSG00000225899 104 0 0.00 53 9 14.52 - - - FRMD3 0 genome.wustl.edu 37 9 85862948 85862948 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 85862948 85862948 C T SNP FRMD3 ENST00000304195 human ensembl 69_37n -1 known missense c.1679 p.C560Y 1.000 NULL pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors FRMD3 HGNC ENSG00000172159 224 0 0.00 150 93 38.27 - - - FRMPD2 0 genome.wustl.edu 37 10 49383976 49383976 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 49383976 49383976 T C SNP FRMPD2 ENST00000374201 human ensembl 69_37n -1 known missense c.2902 p.I968V 0.060 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam - no_errors FRMPD2 HGNC ENSG00000170324 18 0 0.00 16 6 27.27 - - - FRMPD3 0 genome.wustl.edu 37 X 106845002 106845002 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c X 106845002 106845002 T C SNP FRMPD3 ENST00000276185 human ensembl 69_37n +1 known missense c.3832 p.Y1278H 1.000 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD3 HGNC ENSG00000147234 77 0 0.00 34 9 20.93 - - - FRMPD4 0 genome.wustl.edu 37 X 12627960 12627960 + Silent SNP A A C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c X 12627960 12627960 A C SNP FRMPD4 ENST00000380682 human ensembl 69_37n +1 known silent c.279 p.A93 0.884 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_Rsp5_WWP - no_errors FRMPD4 HGNC ENSG00000169933 85 0 0.00 75 13 14.61 - - - FRMPD4 0 genome.wustl.edu 37 X 12736312 12736312 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c X 12736312 12736312 G A SNP FRMPD4 ENST00000380682 human ensembl 69_37n +1 known missense c.3367 p.A1123T 0.069 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_Rsp5_WWP - no_errors FRMPD4 HGNC ENSG00000169933 260 0 0.00 241 28 10.41 - - - FTSJD2 0 genome.wustl.edu 37 6 37427435 37427435 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 37427435 37427435 G A SNP FTSJD2 ENST00000373451 human ensembl 69_37n +1 known missense c.1070 p.G357D 1.000 pfam_rRNA_MeTrfase_FtsJ_dom pfam_rRNA_MeTrfase_FtsJ_dom,pfam_G_patch_dom,smart_G_patch_dom,smart_WW_Rsp5_WWP,pfscan_G_patch_dom - no_errors FTSJD2 HGNC ENSG00000137200 599 0 0.00 544 129 19.14 - - - FUNDC2P2 0 genome.wustl.edu 37 2 84517893 84517893 + RNA SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 84517893 84517893 G A SNP FUNDC2P2 ENST00000331369 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors FUNDC2P2 HGNC ENSG00000182814 43 0 0.00 24 21 46.67 - - - FYCO1 0 genome.wustl.edu 37 3 45972655 45972655 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 45972655 45972655 T C SNP FYCO1 ENST00000535325 human ensembl 69_37n -1 known missense c.4219 p.T1407A 1.000 superfamily_GOLD,pfscan_GOLD pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel - no_errors FYCO1 HGNC ENSG00000163820 67 0 0.00 27 4 12.90 - - - GABRG3 0 genome.wustl.edu 37 15 27777921 27777921 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 15 27777921 27777921 G A SNP GABRG3 ENST00000333743 human ensembl 69_37n +1 known missense c.1298 p.R433H 0.956 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg3_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG3 HGNC ENSG00000182256 55 0 0.00 33 17 34.00 - - - GAL3ST1 0 genome.wustl.edu 37 22 30951959 30951959 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 22 30951959 30951959 T C SNP GAL3ST1 ENST00000338911 human ensembl 69_37n -1 known missense c.253 p.K85E 1.000 pfam_Gal-3-0_sulfotransfrase pfam_Gal-3-0_sulfotransfrase - no_errors GAL3ST1 HGNC ENSG00000128242 23 0 0.00 11 11 50.00 - - - GALNT7 0 genome.wustl.edu 37 4 174225221 174225221 + Nonsense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 174225221 174225221 G A SNP GALNT7 ENST00000265000 human ensembl 69_37n +1 known nonsense c.1341 p.W447* 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT7 HGNC ENSG00000109586 139 0 0.00 130 18 12.16 - - - GAS2L3 0 genome.wustl.edu 37 12 101012337 101012337 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 101012337 101012337 G A SNP GAS2L3 ENST00000266754 human ensembl 69_37n +1 known missense c.620 p.C207Y 1.000 superfamily_CH-domain pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L3 HGNC ENSG00000139354 92 0 0.00 90 18 16.67 - - - GATA3 0 genome.wustl.edu 37 10 8115874 8115875 + Frame_Shift_Ins INS - - G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 8115874 8115875 - G INS GATA3 ENST00000379328 human ensembl 69_37n +1 known frame_shift_ins c.1223_1224 p.P409fs 0.903:0.359 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 95 0 0.00 84 19 18.45 - - - GBP7 0 genome.wustl.edu 37 1 89613267 89613267 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 89613267 89613267 G A SNP GBP7 ENST00000294671 human ensembl 69_37n -1 known missense c.1348 p.P450S 0.108 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C - no_errors GBP7 HGNC ENSG00000213512 312 0 0.00 209 68 24.37 - - - GCFC1 0 genome.wustl.edu 37 21 34120848 34120848 + Frame_Shift_Del DEL G G - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 21 34120848 34120848 G - DEL GCFC1 ENST00000331923 human ensembl 69_37n -1 known frame_shift_del c.1885 p.L629fs 1.000 pfam_GCFC_dom pfam_GCFC_dom - no_errors GCFC1 HGNC ENSG00000159086 168 0 0.00 169 25 12.89 - - - GCN1L1 0 genome.wustl.edu 37 12 120575568 120575568 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 120575568 120575568 C T SNP GCN1L1 ENST00000300648 human ensembl 69_37n -1 known silent c.6444 p.G2148 1.000 superfamily_ARM-type_fold pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC ENSG00000089154 68 0 0.00 46 13 22.03 - - - GEMIN4 0 genome.wustl.edu 37 17 650385 650385 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 650385 650385 C T SNP GEMIN4 ENST00000319004 human ensembl 69_37n -1 known missense c.898 p.V300I 0.035 NULL NULL - no_errors GEMIN4 HGNC ENSG00000179409 53 0 0.00 38 6 13.64 - - - GFRA2 0 genome.wustl.edu 37 8 21608335 21608335 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 8 21608335 21608335 G A SNP GFRA2 ENST00000517328 human ensembl 69_37n -1 known missense c.559 p.R187C 0.941 pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt_a2 pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_a2 - no_errors GFRA2 HGNC ENSG00000168546 30 0 0.00 12 22 64.71 - - - GIMAP2 0 genome.wustl.edu 37 7 150390100 150390100 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 7 150390100 150390100 C T SNP GIMAP2 ENST00000223293 human ensembl 69_37n +1 known silent c.726 p.S242 0.000 NULL pfam_AIG1 - no_errors GIMAP2 HGNC ENSG00000106560 199 0 0.00 175 46 20.81 - - - GIMAP5 0 genome.wustl.edu 37 7 150439805 150439805 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 7 150439805 150439805 T C SNP GIMAP5 ENST00000358647 human ensembl 69_37n +1 known missense c.578 p.V193A 0.001 pfam_AIG1 pfam_AIG1 - no_errors GIMAP5 HGNC ENSG00000196329 207 0 0.00 167 26 13.33 - - - GJA4 0 genome.wustl.edu 37 1 35260297 35260297 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 35260297 35260297 C T SNP GJA4 ENST00000342280 human ensembl 69_37n +1 known silent c.483 p.C161 1.000 prints_Connexin,prints_Connexin37 pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin37 - no_errors GJA4 HGNC ENSG00000187513 53 0 0.00 26 8 23.53 - - - GJA5 0 genome.wustl.edu 37 1 147230617 147230617 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 147230617 147230617 G A SNP GJA5 ENST00000271348 human ensembl 69_37n -1 known missense c.730 p.H244Y 0.003 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin40 - no_errors GJA5 HGNC ENSG00000143140 115 0 0.00 111 16 12.60 - - - GKN2 0 genome.wustl.edu 37 2 69174335 69174335 + Missense_Mutation SNP C C G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 69174335 69174335 C G SNP GKN2 ENST00000328895 human ensembl 69_37n -1 known missense c.259 p.D87H 0.995 pfam_BRICHOS_dom,pfscan_BRICHOS_dom pfam_BRICHOS_dom,pfscan_BRICHOS_dom - no_errors GKN2 HGNC ENSG00000183607 126 0 0.00 144 34 19.10 - - - GLCE 0 genome.wustl.edu 37 15 69548655 69548655 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 15 69548655 69548655 C T SNP GLCE ENST00000261858 human ensembl 69_37n +1 known silent c.510 p.P170 0.737 NULL pfam_C5-epim - no_errors GLCE HGNC ENSG00000138604 484 0 0.00 386 126 24.61 - - - GLS 0 genome.wustl.edu 37 2 191795242 191795244 + In_Frame_Del DEL CTC CTC - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 191795242 191795244 CTC - DEL GLS ENST00000320717 human ensembl 69_37n +1 known in_frame_del c.1505_1507 p.P504in_frame_del 1.000:0.864:1.000 pfam_Glutaminase,superfamily_Beta-lactam/transpept-like,tigrfam_Glutaminase pfam_Glutaminase,pfam_Ankyrin_rpt,superfamily_Beta-lactam/transpept-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_Glutaminase - no_errors GLS HGNC ENSG00000115419 72 0 0.00 59 10 14.49 - - - GMCL1 0 genome.wustl.edu 37 2 70068153 70068153 + Silent SNP A A C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 70068153 70068153 A C SNP GMCL1 ENST00000282570 human ensembl 69_37n +1 known silent c.561 p.A187 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors GMCL1 HGNC ENSG00000087338 29 0 0.00 45 14 23.73 - - - GOLGA2P5 0 genome.wustl.edu 37 12 100562905 100562905 + RNA SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 100562905 100562905 C T SNP GOLGA2P5 ENST00000421840 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors GOLGA2P5 HGNC ENSG00000238105 21 0 0.00 19 5 20.83 - - - GPATCH2 0 genome.wustl.edu 37 1 217793585 217793585 + Nonsense_Mutation SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 217793585 217793585 C A SNP GPATCH2 ENST00000366935 human ensembl 69_37n -1 known nonsense c.313 p.E105* 1.000 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH2 HGNC ENSG00000092978 145 0 0.00 169 31 15.50 - - - GPATCH3 0 genome.wustl.edu 37 1 27217538 27217538 + Missense_Mutation SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 27217538 27217538 G T SNP GPATCH3 ENST00000361720 human ensembl 69_37n -1 known missense c.1541 p.S514Y 0.943 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH3 HGNC ENSG00000198746 45 0 0.00 17 12 41.38 - - - GPR125 0 genome.wustl.edu 37 4 22446677 22446677 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 22446677 22446677 C T SNP GPR125 ENST00000334304 human ensembl 69_37n -1 known missense c.625 p.V209I 0.997 smart_Cys-rich_flank_reg_C pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like - no_errors GPR125 HGNC ENSG00000152990 88 0 0.00 68 24 26.09 - - - GPR126 0 genome.wustl.edu 37 6 142691311 142691311 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 142691311 142691311 C T SNP GPR126 ENST00000367609 human ensembl 69_37n +1 known silent c.450 p.A150 0.574 superfamily_CUB,smart_Pentaxin pfam_GPCR_2_secretin-like,pfam_CUB,pfam_GPS_dom,pfam_Pentaxin,superfamily_CUB,superfamily_ConA-like_lec_gl,smart_CUB,smart_Pentaxin,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR126 HGNC ENSG00000112414 92 0 0.00 91 24 20.87 - - - GPR148 0 genome.wustl.edu 37 2 131486765 131486766 + Frame_Shift_Ins INS - - T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 131486765 131486766 - T INS GPR148 ENST00000309926 human ensembl 69_37n +1 known frame_shift_ins c.41_42 p.W15fs 0.007:0.010 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors GPR148 HGNC ENSG00000173302 99 0 0.00 50 26 34.21 - - - GPR155 0 genome.wustl.edu 37 2 175330598 175330599 + Frame_Shift_Ins INS - - T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 175330598 175330599 - T INS GPR155 ENST00000295500 human ensembl 69_37n -1 known frame_shift_ins c.1299_1298 p.N433fs 1.000:1.000 NULL pfam_Auxin_eff,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors GPR155 HGNC ENSG00000163328 77 0 0.00 37 20 35.09 - - - GPR19 0 genome.wustl.edu 37 12 12814830 12814830 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 12814830 12814830 C T SNP GPR19 ENST00000332427 human ensembl 69_37n -1 known missense c.553 p.A185T 0.017 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors GPR19 HGNC ENSG00000183150 179 0 0.00 160 35 17.95 - - - GPR22 0 genome.wustl.edu 37 7 107115001 107115002 + Frame_Shift_Ins INS - - T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 7 107115001 107115002 - T INS GPR22 ENST00000304402 human ensembl 69_37n +1 known frame_shift_ins c.496_497 p.S168fs 1.000:1.000 pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors GPR22 HGNC ENSG00000172209 107 0 0.00 104 18 14.75 - - - GPR22 0 genome.wustl.edu 37 7 107115738 107115739 + Frame_Shift_Ins INS - - A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 7 107115738 107115739 - A INS GPR22 ENST00000304402 human ensembl 69_37n +1 known frame_shift_ins c.1233_1234 p.I413fs 1.000:1.000 NULL pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors GPR22 HGNC ENSG00000172209 118 0 0.00 74 25 25.25 - - - GPR52 0 genome.wustl.edu 37 1 174418146 174418148 + In_Frame_Del DEL CTT CTT - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 174418146 174418148 CTT - DEL GPR52 ENST00000367685 human ensembl 69_37n +1 known in_frame_del c.897_899 p.F300in_frame_del 0.994:1.000:1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors GPR52 HGNC ENSG00000203737 229 0 0.00 284 39 12.04 - - - GPR65 0 genome.wustl.edu 37 14 88477555 88477555 + Frame_Shift_Del DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 14 88477555 88477555 T - DEL GPR65 ENST00000267549 human ensembl 69_37n +1 known frame_shift_del c.364 p.F124fs 0.992 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Psych_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Psych_rcpt,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors GPR65 HGNC ENSG00000140030 374 1 0.27 261 63 19.38 - - - GPR84 0 genome.wustl.edu 37 12 54756762 54756762 + Missense_Mutation SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 54756762 54756762 G T SNP GPR84 ENST00000267015 human ensembl 69_37n -1 known missense c.874 p.P292T 0.001 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors GPR84 HGNC ENSG00000139572 164 0 0.00 161 28 14.81 - - - GPR98 0 genome.wustl.edu 37 5 90084103 90084103 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 90084103 90084103 C T SNP GPR98 ENST00000405460 human ensembl 69_37n +1 known silent c.13869 p.S4623 0.999 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 158 0 0.00 109 25 18.66 - - - GPRC5D 0 genome.wustl.edu 37 12 13103174 13103174 + Nonsense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 13103174 13103174 G A SNP GPRC5D ENST00000228887 human ensembl 69_37n -1 known nonsense c.145 p.R49* 0.779 pfam_GPCR_3_C pfam_GPCR_3_C - no_errors GPRC5D HGNC ENSG00000111291 183 1 0.54 176 25 12.38 - - - GPX5 0 genome.wustl.edu 37 6 28497212 28497212 + RNA DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 28497212 28497212 A - DEL GPX5 ENST00000442674 human ensembl 69_37n +1 known rna NULL NULL 0.025 - - - no_errors GPX5 HGNC ENSG00000224586 269 0 0.00 216 111 33.43 - - - GRHL3 0 genome.wustl.edu 37 1 24664534 24664534 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 24664534 24664534 G A SNP GRHL3 ENST00000350501 human ensembl 69_37n +1 known missense c.893 p.R298H 0.998 pfam_CP2 pfam_CP2,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors GRHL3 HGNC ENSG00000158055 41 0 0.00 40 10 20.00 - - - GRID1 0 genome.wustl.edu 37 10 87484325 87484325 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 87484325 87484325 G A SNP GRID1 ENST00000327946 human ensembl 69_37n -1 known missense c.1642 p.P548S 1.000 pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID1 HGNC ENSG00000182771 68 0 0.00 41 20 32.79 - - - GRIK2 0 genome.wustl.edu 37 6 102503432 102503432 + Frame_Shift_Del DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 102503432 102503432 A - DEL GRIK2 ENST00000421544 human ensembl 69_37n +1 known frame_shift_del c.2539 p.N849fs 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK2 HGNC ENSG00000164418 193 0 0.00 162 41 19.62 - - - GRIN3A 0 genome.wustl.edu 37 9 104432497 104432497 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 104432497 104432497 C T SNP GRIN3A ENST00000361820 human ensembl 69_37n -1 known missense c.2197 p.A733T 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt - no_errors GRIN3A HGNC ENSG00000198785 191 0 0.00 94 79 45.66 - - - GTF2IRD1 0 genome.wustl.edu 37 7 73927243 73927243 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 7 73927243 73927243 G A SNP GTF2IRD1 ENST00000265755 human ensembl 69_37n +1 known silent c.207 p.K69 1.000 pirsf_TF_II-I pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I - no_errors GTF2IRD1 HGNC ENSG00000006704 58 0 0.00 24 5 17.24 - - - GTSF1 0 genome.wustl.edu 37 12 54858554 54858554 + RNA SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 54858554 54858554 G A SNP GTSF1 ENST00000548538 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors GTSF1 HGNC ENSG00000170627 16 0 0.00 4 4 50.00 - - - GUCY2C 0 genome.wustl.edu 37 12 14772223 14772223 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 14772223 14772223 C T SNP GUCY2C ENST00000261170 human ensembl 69_37n -1 known missense c.2797 p.V933M 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase - no_errors GUCY2C HGNC ENSG00000070019 153 0 0.00 109 18 14.17 - - - GXYLT2 0 genome.wustl.edu 37 3 73016711 73016711 + Silent SNP A A T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 73016711 73016711 A T SNP GXYLT2 ENST00000389617 human ensembl 69_37n +1 known silent c.990 p.V330 1.000 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GXYLT2 HGNC ENSG00000172986 78 0 0.00 38 20 34.48 - - - H2AFZ 0 genome.wustl.edu 37 4 100869623 100869624 + Frame_Shift_Del DEL AC AC - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 AC AC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 100869623 100869624 AC - DEL H2AFZ ENST00000296417 human ensembl 69_37n -1 known frame_shift_del c.383_382 p.V128fs 0.998:1.000 NULL pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors H2AFZ HGNC ENSG00000164032 61 0 0.00 27 4 12.90 - - - HADHA 0 genome.wustl.edu 37 2 26414300 26414300 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 26414300 26414300 C T SNP HADHA ENST00000492433 human ensembl 69_37n -1 putative missense c.656 p.C219Y 0.000 NULL pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like - no_start_codon:no_stop_codon:bad_bp_length_for_coding_region HADHA HGNC ENSG00000084754 54 0 0.00 25 7 21.88 - - - HAPLN3 0 genome.wustl.edu 37 15 89424727 89424727 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 15 89424727 89424727 G A SNP HAPLN3 ENST00000359595 human ensembl 69_37n -1 known silent c.354 p.R118 0.551 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,prints_Link,pfscan_Link,pfscan_Ig-like - no_errors HAPLN3 HGNC ENSG00000140511 82 0 0.00 17 34 66.67 - - - HDAC1 0 genome.wustl.edu 37 1 32797615 32797615 + RNA SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 32797615 32797615 G T SNP HDAC1 ENST00000471488 human ensembl 69_37n +1 putative rna NULL NULL 0.010 - - - no_errors HDAC1 HGNC ENSG00000116478 63 0 0.00 6 12 66.67 - - - HDAC4 0 genome.wustl.edu 37 2 240066299 240066299 + Frame_Shift_Del DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 240066299 240066299 T - DEL HDAC4 ENST00000345617 human ensembl 69_37n -1 known frame_shift_del c.845 p.K282fs 1.000 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC4 HGNC ENSG00000068024 74 0 0.00 24 6 18.75 - - - HDX 0 genome.wustl.edu 37 X 83591867 83591867 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c X 83591867 83591867 G A SNP HDX ENST00000297977 human ensembl 69_37n -1 known missense c.1682 p.P561L 0.999 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors HDX HGNC ENSG00000165259 39 0 0.00 23 8 25.81 - - - HEATR5B 0 genome.wustl.edu 37 2 37304104 37304104 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 37304104 37304104 C T SNP HEATR5B ENST00000233099 human ensembl 69_37n -1 known missense c.397 p.A133T 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5B HGNC ENSG00000008869 147 0 0.00 119 89 42.79 - - - HECTD2 0 genome.wustl.edu 37 10 93257913 93257915 + In_Frame_Del DEL GAA GAA - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 93257913 93257915 GAA - DEL HECTD2 ENST00000446394 human ensembl 69_37n +1 known in_frame_del c.1741_1743 p.E582in_frame_del 1.000:1.000:1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT - no_errors HECTD2 HGNC ENSG00000165338 134 0 0.00 135 33 19.64 - - - HELB 0 genome.wustl.edu 37 12 66717934 66717934 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 66717934 66717934 G A SNP HELB ENST00000247815 human ensembl 69_37n +1 known silent c.2469 p.K823 0.080 NULL NULL - no_errors HELB HGNC ENSG00000127311 162 0 0.00 158 35 18.13 - - - HELZ 0 genome.wustl.edu 37 17 65184497 65184497 + Frame_Shift_Del DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 65184497 65184497 A - DEL HELZ ENST00000358691 human ensembl 69_37n -1 known frame_shift_del c.1100 p.F367fs 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors HELZ HGNC ENSG00000198265 275 0 0.00 277 67 19.31 - - - HEPH 0 genome.wustl.edu 37 X 65480089 65480090 + Frame_Shift_Ins INS - - T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c X 65480089 65480090 - T INS HEPH ENST00000519389 human ensembl 69_37n +1 known frame_shift_ins c.3346_3347 p.S1118fs 1.000:1.000 superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPH HGNC ENSG00000089472 155 0 0.00 64 20 23.81 - - - HERC1 0 genome.wustl.edu 37 15 64015488 64015488 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 15 64015488 64015488 T C SNP HERC1 ENST00000443617 human ensembl 69_37n -1 known missense c.3635 p.Y1212C 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 26 0 0.00 8 12 60.00 - - - HERC2 0 genome.wustl.edu 37 15 28377860 28377860 + Missense_Mutation SNP C C G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 15 28377860 28377860 C G SNP HERC2 ENST00000261609 human ensembl 69_37n -1 known missense c.12347 p.G4116A 1.000 pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 29 0 0.00 26 20 43.48 - - - HGF 0 genome.wustl.edu 37 7 81335612 81335612 + Missense_Mutation SNP T T G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 7 81335612 81335612 T G SNP HGF ENST00000222390 human ensembl 69_37n -1 known missense c.1748 p.K583T 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors HGF HGNC ENSG00000019991 104 0 0.00 87 23 20.91 - - - HIC2 0 genome.wustl.edu 37 22 21800890 21800890 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 22 21800890 21800890 G A SNP HIC2 ENST00000407464 human ensembl 69_37n +1 known missense c.1706 p.R569H 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors HIC2 HGNC ENSG00000169635 27 0 0.00 11 4 26.67 - - - HIST1H2AE 0 genome.wustl.edu 37 6 26217309 26217309 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 26217309 26217309 G A SNP HIST1H2AE ENST00000303910 human ensembl 69_37n +1 known missense c.107 p.R36H 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AE HGNC ENSG00000168274 81 0 0.00 74 13 14.94 - - - HIST1H2AI 0 genome.wustl.edu 37 6 27776216 27776216 + Missense_Mutation SNP A A T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 27776216 27776216 A T SNP HIST1H2AI ENST00000358739 human ensembl 69_37n +1 known missense c.229 p.T77S 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AI HGNC ENSG00000196747 77 0 0.00 51 7 12.07 - - - HIST1H2AM 0 genome.wustl.edu 37 6 27860700 27860701 + Frame_Shift_Ins INS - - T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 27860700 27860701 - T INS HIST1H2AM ENST00000359611 human ensembl 69_37n -1 known frame_shift_ins c.228_227 p.T77fs 1.000:1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AM HGNC ENSG00000233224 93 0 0.00 110 17 13.39 - - - HIST1H2BB 0 genome.wustl.edu 37 6 26043669 26043669 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 26043669 26043669 G A SNP HIST1H2BB ENST00000357905 human ensembl 69_37n -1 known missense c.217 p.R73C 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BB HGNC ENSG00000196226 129 0 0.00 82 38 31.67 - - - HIST1H2BF 0 genome.wustl.edu 37 6 26200095 26200095 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 26200095 26200095 G A SNP HIST1H2BF ENST00000359985 human ensembl 69_37n +1 known silent c.309 p.L103 1.000 superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BF HGNC ENSG00000197846 109 0 0.00 78 30 27.78 - - - HMCN1 0 genome.wustl.edu 37 1 185880816 185880816 + Frame_Shift_Del DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 185880816 185880816 A - DEL HMCN1 ENST00000271588 human ensembl 69_37n +1 known frame_shift_del c.804 p.K270fs 0.813 NULL 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 154 0 0.00 177 29 13.88 - - - HMCN1 0 genome.wustl.edu 37 1 185950172 185950172 + Missense_Mutation SNP C C G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 185950172 185950172 C G SNP HMCN1 ENST00000271588 human ensembl 69_37n +1 known missense c.2629 p.Q877E 0.999 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,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 156 0 0.00 186 28 13.08 - - - HMCN1 0 genome.wustl.edu 37 1 186031692 186031692 + Silent SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 186031692 186031692 A G SNP HMCN1 ENST00000271588 human ensembl 69_37n +1 known silent c.7473 p.V2491 0.950 pfam_Ig_I-set,smart_Ig_sub,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 121 0 0.00 105 16 13.22 - - - HMGCR 0 genome.wustl.edu 37 5 74646165 74646165 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 74646165 74646165 C T SNP HMGCR ENST00000287936 human ensembl 69_37n +1 known missense c.746 p.P249L 1.000 pfam_Patched,tigrfam_HMG_CoA_Rdtase_metazoan pfam_HMG_CoA_Rdtase,pfam_Patched,superfamily_HMG_CoA_Rdtase_sub-bd,superfamily_HMG_CoA_Rdtase_NAD(P)-bd,pfscan_SSD,pfscan_HMG_CoA_Rdtase,prints_HMG_CoA_Rdtase,tigrfam_HMG_CoA_Rdtase_metazoan,tigrfam_HMG_CoA_Rdtase_eu_arc - no_errors HMGCR HGNC ENSG00000113161 126 0 0.00 76 54 41.54 - - - HNF1A 0 genome.wustl.edu 37 12 121431449 121431449 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 121431449 121431449 A G SNP HNF1A ENST00000257555 human ensembl 69_37n +1 known missense c.653 p.Y218C 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_HNF1b_C,pfam_HNF-1_N,pfam_HNF1a_C,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeodomain,pfscan_Homeodomain - no_errors HNF1A HGNC ENSG00000135100 54 0 0.00 32 21 39.62 - - - HNRNPK 0 genome.wustl.edu 37 9 86584223 86584223 + RNA DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 86584223 86584223 A - DEL HNRNPK ENST00000493362 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors HNRNPK HGNC ENSG00000165119 112 0 0.00 69 55 41.98 - - - HNRNPK 0 genome.wustl.edu 37 9 86590410 86590410 + Missense_Mutation SNP C C G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 86590410 86590410 C G SNP HNRNPK ENST00000376263 human ensembl 69_37n -1 known missense c.224 p.S75T 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_ROK_N,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HNRNPK HGNC ENSG00000165119 62 0 0.00 37 12 24.49 - - - HNRNPR 0 genome.wustl.edu 37 1 23648138 23648138 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 23648138 23648138 G A SNP HNRNPR ENST00000374616 human ensembl 69_37n -1 known missense c.694 p.R232C 1.000 smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors HNRNPR HGNC ENSG00000125944 238 0 0.00 169 44 20.56 - - - HPS4 0 genome.wustl.edu 37 22 26868817 26868817 + Missense_Mutation SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 22 26868817 26868817 G T SNP HPS4 ENST00000398141 human ensembl 69_37n -1 known missense c.350 p.P117H 0.995 NULL NULL - no_errors HPS4 HGNC ENSG00000100099 155 0 0.00 103 22 17.60 - - - HRC 0 genome.wustl.edu 37 19 49657760 49657760 + Missense_Mutation SNP T T A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 49657760 49657760 T A SNP HRC ENST00000252825 human ensembl 69_37n -1 known missense c.735 p.E245D 0.204 pfam_Hist_rich_Ca-bd pfam_Hist_rich_Ca-bd - no_errors HRC HGNC ENSG00000130528 91 0 0.00 46 8 14.81 - - - HS3ST3A1 0 genome.wustl.edu 37 17 13399528 13399529 + Frame_Shift_Ins INS - - A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 13399528 13399529 - A INS HS3ST3A1 ENST00000284110 human ensembl 69_37n -1 known frame_shift_ins c.1207_1206 p.G402fs 1.000:0.023 NULL pfam_Sulfotransferase_dom - no_errors HS3ST3A1 HGNC ENSG00000153976 221 0 0.00 125 69 35.57 - - - HSD17B2 0 genome.wustl.edu 37 16 82069191 82069191 + Frame_Shift_Del DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 16 82069191 82069191 T - DEL HSD17B2 ENST00000199936 human ensembl 69_37n +1 known frame_shift_del c.162 p.W56fs 0.001 NULL pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B2 HGNC ENSG00000086696 94 0 0.00 51 18 24.66 - - - HSPA14 0 genome.wustl.edu 37 10 14912635 14912635 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 14912635 14912635 C T SNP HSPA14 ENST00000378372 human ensembl 69_37n +1 known missense c.1420 p.R474C 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA14 HGNC ENSG00000187522 41 0 0.00 27 11 28.95 - - - HSPBAP1 0 genome.wustl.edu 37 3 122478177 122478177 + Nonsense_Mutation SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 122478177 122478177 C A SNP HSPBAP1 ENST00000306103 human ensembl 69_37n -1 known nonsense c.463 p.G155* 1.000 smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom,prints_HSPB1-associated_protein_1 - no_errors HSPBAP1 HGNC ENSG00000169087 124 0 0.00 96 31 24.41 - - - HTR1B 0 genome.wustl.edu 37 6 78172609 78172609 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 78172609 78172609 G A SNP HTR1B ENST00000369947 human ensembl 69_37n -1 known missense c.512 p.A171V 0.951 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_5HT1B_rcpt,prints_5HT_rcpt,prints_Adrnrgc_rcpt - no_errors HTR1B HGNC ENSG00000135312 44 0 0.00 18 8 30.77 - - - HUWE1 0 genome.wustl.edu 37 X 53675211 53675211 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c X 53675211 53675211 T C SNP HUWE1 ENST00000262854 human ensembl 69_37n -1 known missense c.88 p.N30D 1.000 NULL 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 59 0 0.00 35 10 22.22 - - - HYOU1 0 genome.wustl.edu 37 11 118922240 118922240 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 118922240 118922240 C T SNP HYOU1 ENST00000404233 human ensembl 69_37n -1 known missense c.1436 p.R479H 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HYOU1 HGNC ENSG00000149428 62 0 0.00 20 7 25.00 - - - IBTK 0 genome.wustl.edu 37 6 82933863 82933863 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 82933863 82933863 C T SNP IBTK ENST00000306270 human ensembl 69_37n -1 known missense c.865 p.V289I 1.000 pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens pfam_Reg_chr_condens,pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens - no_errors IBTK HGNC ENSG00000005700 172 0 0.00 132 63 32.31 - - - ICOS 0 genome.wustl.edu 37 2 204820526 204820526 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 204820526 204820526 T C SNP ICOS ENST00000316386 human ensembl 69_37n +1 known missense c.226 p.S76P 0.005 NULL NULL - no_errors ICOS HGNC ENSG00000163600 225 0 0.00 133 92 40.89 - - - IFIH1 0 genome.wustl.edu 37 2 163134716 163134716 + Frame_Shift_Del DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 163134716 163134716 T - DEL IFIH1 ENST00000263642 human ensembl 69_37n -1 known frame_shift_del c.1764 p.A589fs 1.000 superfamily_ARM-type_fold pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_CARD,superfamily_DEATH-like,superfamily_ARM-type_fold,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors IFIH1 HGNC ENSG00000115267 103 0 0.00 95 17 15.18 - - - IFT172 0 genome.wustl.edu 37 2 27672430 27672430 + Splice_Site SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 27672430 27672430 C A SNP IFT172 ENST00000260570 human ensembl 69_37n -1 known splice_site c.4161-1 e38-1 1.000 - - - no_errors IFT172 HGNC ENSG00000138002 388 0 0.00 248 61 19.61 - - - IFT81 0 genome.wustl.edu 37 12 110655886 110655886 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 110655886 110655886 A G SNP IFT81 ENST00000242591 human ensembl 69_37n +1 known missense c.1886 p.H629R 1.000 NULL NULL - no_errors IFT81 HGNC ENSG00000122970 64 0 0.00 75 16 17.58 - - - IGF1R 0 genome.wustl.edu 37 15 99452113 99452113 + Frame_Shift_Del DEL G G - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 15 99452113 99452113 G - DEL IGF1R ENST00000268035 human ensembl 69_37n +1 known frame_shift_del c.1447 p.E484fs 1.000 pirsf_Tyr_kinase_insulin-like_rcpt pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom - no_errors IGF1R HGNC ENSG00000140443 44 0 0.00 21 10 31.25 - - - IGFBP5 0 genome.wustl.edu 37 2 217542937 217542937 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 217542937 217542937 G A SNP IGFBP5 ENST00000233813 human ensembl 69_37n -1 known silent c.585 p.H195 1.000 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,pfscan_Thyroglobulin_1,prints_IGFBP_1-6_chordata pfam_Thyroglobulin_1,pfam_IGFBP-like,superfamily_Thyroglobulin_1,superfamily_Growth_fac_rcpt,smart_IGFBP-like,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1,prints_IGFBP_1-6_chordata,prints_IGFBP-5 - no_errors IGFBP5 HGNC ENSG00000115461 52 0 0.00 28 13 31.71 - - - IGKV1D-37 0 genome.wustl.edu 37 2 89923769 89923769 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 89923769 89923769 C T SNP IGKV1D-37 ENST00000509129 human ensembl 69_37n +1 known silent c.96 p.S32 0.001 pfam_Ig_V-set,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon:bad_bp_length_for_coding_region IGKV1D-37 HGNC ENSG00000250036 25 0 0.00 38 11 22.45 - - - IGKV2D-26 0 genome.wustl.edu 37 2 90025293 90025293 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 90025293 90025293 G A SNP IGKV2D-26 ENST00000390268 human ensembl 69_37n +1 known silent c.141 p.Q47 0.099 pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGKV2D-26 HGNC ENSG00000211623 144 0 0.00 105 25 19.23 - - - IGLV3-16 0 genome.wustl.edu 37 22 23090202 23090202 + Frame_Shift_Del DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 22 23090202 23090202 A - DEL IGLV3-16 ENST00000390311 human ensembl 69_37n +1 known frame_shift_del c.141 p.K49fs 0.000 pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon:bad_bp_length_for_coding_region IGLV3-16 HGNC ENSG00000211665 211 1 0.47 125 23 15.44 - - - IGSF10 0 genome.wustl.edu 37 3 151165209 151165209 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 151165209 151165209 C T SNP IGSF10 ENST00000282466 human ensembl 69_37n -1 known missense c.2560 p.E854K 0.117 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors IGSF10 HGNC ENSG00000152580 529 1 0.19 523 110 17.30 - - - IKBKAP 0 genome.wustl.edu 37 9 111668705 111668705 + Silent SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 111668705 111668705 A G SNP IKBKAP ENST00000374647 human ensembl 69_37n -1 known silent c.1521 p.T507 1.000 pfam_IKI3,pirsf_IKI3 pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3 - no_errors IKBKAP HGNC ENSG00000070061 291 0 0.00 216 85 28.24 - - - IL12B 0 genome.wustl.edu 37 5 158749505 158749505 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 158749505 158749505 T C SNP IL12B ENST00000231228 human ensembl 69_37n -1 known missense c.379 p.T127A 1.000 pirsf_IL_12_beta,pfam_Interleukin-12_bsu_cen-dom,superfamily_Fibronectin_type3 pirsf_IL_12_beta,pfam_Interleukin-12_bsu_cen-dom,superfamily_Fibronectin_type3,smart_Ig_sub2,prints_IL_12_beta,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IL12B HGNC ENSG00000113302 85 0 0.00 25 27 51.92 - - - IL12RB2 0 genome.wustl.edu 37 1 67793894 67793895 + Frame_Shift_Ins INS - - A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 67793894 67793895 - A INS IL12RB2 ENST00000262345 human ensembl 69_37n +1 known frame_shift_ins c.491_492 p.N166fs 0.974:0.061 pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_IgC2-like_lig-bd,pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL12RB2 HGNC ENSG00000081985 240 0 0.00 232 49 17.44 - - - IL1R2 0 genome.wustl.edu 37 2 102641101 102641101 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 102641101 102641101 G A SNP IL1R2 ENST00000332549 human ensembl 69_37n +1 known silent c.858 p.P286 0.000 pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like,prints_Interleukin-1_rcpt_II pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like,prints_Interleukin-1_rcpt_II,prints_IL1_rcpt_I/II - no_errors IL1R2 HGNC ENSG00000115590 46 0 0.00 31 19 37.25 - - - IL3 0 genome.wustl.edu 37 5 131398386 131398386 + Missense_Mutation SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 131398386 131398386 G T SNP IL3 ENST00000296870 human ensembl 69_37n +1 known missense c.361 p.G121C 0.000 pfam_Interleukin_3,superfamily_4_helix_cytokine-like_core,pirsf_Interleukin_3 pfam_Interleukin_3,superfamily_4_helix_cytokine-like_core,pirsf_Interleukin_3,prints_Interleukin_3 - no_errors IL3 HGNC ENSG00000164399 213 0 0.00 154 37 19.37 - - - IL31RA 0 genome.wustl.edu 37 5 55168270 55168270 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 55168270 55168270 G A SNP IL31RA ENST00000447346 human ensembl 69_37n +1 known missense c.445 p.E149K 0.000 pfam_IL6_recept-bd,superfamily_Fibronectin_type3 pfam_Fibronectin_type3,pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL31RA HGNC ENSG00000164509 157 0 0.00 126 16 11.27 - - - INO80D 0 genome.wustl.edu 37 2 206921318 206921318 + Nonsense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 206921318 206921318 G A SNP INO80D ENST00000403263 human ensembl 69_37n -1 known nonsense c.568 p.R190* 1.000 NULL NULL - no_errors INO80D HGNC ENSG00000114933 51 0 0.00 26 27 50.94 - - - INPP4A 0 genome.wustl.edu 37 2 99170797 99170797 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 99170797 99170797 G A SNP INPP4A ENST00000074304 human ensembl 69_37n +1 known missense c.1426 p.A476T 0.995 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors INPP4A HGNC ENSG00000040933 34 0 0.00 39 9 18.75 - - - INPP5F 0 genome.wustl.edu 37 10 121567481 121567481 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 121567481 121567481 T C SNP INPP5F ENST00000361976 human ensembl 69_37n +1 known missense c.1478 p.L493S 0.993 pfscan_Syja_N pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N - no_errors INPP5F HGNC ENSG00000198825 124 0 0.00 72 19 20.88 - - - INPP5J 0 genome.wustl.edu 37 22 31522468 31522468 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 22 31522468 31522468 G A SNP INPP5J ENST00000331075 human ensembl 69_37n +1 known missense c.1378 p.A460T 1.000 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 87 0 0.00 42 13 23.21 - - - INPPL1 0 genome.wustl.edu 37 11 71942195 71942195 + Frame_Shift_Del DEL G G - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 71942195 71942195 G - DEL INPPL1 ENST00000298229 human ensembl 69_37n +1 known frame_shift_del c.1459 p.G488fs 0.999 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2 - no_errors INPPL1 HGNC ENSG00000165458 120 0 0.00 39 11 21.15 - - - INPPL1 0 genome.wustl.edu 37 11 71948748 71948748 + Frame_Shift_Del DEL C C - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 71948748 71948748 C - DEL INPPL1 ENST00000298229 human ensembl 69_37n +1 known frame_shift_del c.3460 p.R1156fs 0.962 NULL pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2 - no_errors INPPL1 HGNC ENSG00000165458 13 0 0.00 5 4 44.44 - - - INSR 0 genome.wustl.edu 37 19 7141785 7141785 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 7141785 7141785 A G SNP INSR ENST00000302850 human ensembl 69_37n -1 known missense c.2585 p.F862S 0.364 pirsf_Tyr_kinase_insulin-like_rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom - no_errors INSR HGNC ENSG00000171105 57 0 0.00 45 12 21.05 - - - INTS12 0 genome.wustl.edu 37 4 106621097 106621097 + Silent SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 106621097 106621097 T C SNP INTS12 ENST00000340139 human ensembl 69_37n -1 known silent c.66 p.S22 0.897 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors INTS12 HGNC ENSG00000138785 492 0 0.00 478 125 20.66 - - - INTS3 0 genome.wustl.edu 37 1 153730074 153730074 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 153730074 153730074 C T SNP INTS3 ENST00000318967 human ensembl 69_37n +1 known silent c.984 p.Y328 0.996 pfam_Integrator_3 pfam_Integrator_3 - no_errors INTS3 HGNC ENSG00000143624 293 0 0.00 257 90 25.94 - - - INTS4 0 genome.wustl.edu 37 11 77692573 77692573 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 77692573 77692573 A G SNP INTS4 ENST00000534064 human ensembl 69_37n -1 known missense c.296 p.L99S 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors INTS4 HGNC ENSG00000149262 55 0 0.00 61 34 35.79 - - - IP6K3 0 genome.wustl.edu 37 6 33694514 33694514 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 33694514 33694514 G A SNP IP6K3 ENST00000293756 human ensembl 69_37n -1 known missense c.583 p.R195W 0.200 NULL pfam_IPK - no_errors IP6K3 HGNC ENSG00000161896 39 0 0.00 28 6 17.65 - - - IQGAP3 0 genome.wustl.edu 37 1 156520119 156520119 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 156520119 156520119 G A SNP IQGAP3 ENST00000361170 human ensembl 69_37n -1 known silent c.1759 p.L587 1.000 NULL pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP - no_errors IQGAP3 HGNC ENSG00000183856 136 1 0.73 133 20 13.07 - - - IRX4 0 genome.wustl.edu 37 5 1879743 1879743 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 1879743 1879743 T C SNP IRX4 ENST00000231357 human ensembl 69_37n -1 known missense c.611 p.N204S 1.000 smart_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain - no_errors IRX4 HGNC ENSG00000113430 20 0 0.00 10 3 23.08 - - - ISLR2 0 genome.wustl.edu 37 15 74425525 74425525 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 15 74425525 74425525 G A SNP ISLR2 ENST00000361742 human ensembl 69_37n +1 known missense c.430 p.G144S 0.020 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Ig-like - no_errors ISLR2 HGNC ENSG00000167178 104 0 0.00 32 28 46.67 - - - ITFG1 0 genome.wustl.edu 37 16 47347684 47347684 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 16 47347684 47347684 A G SNP ITFG1 ENST00000320640 human ensembl 69_37n -1 known missense c.853 p.C285R 0.988 NULL NULL - no_errors ITFG1 HGNC ENSG00000129636 64 0 0.00 35 21 37.50 - - - ITGB7 0 genome.wustl.edu 37 12 53586198 53586198 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 53586198 53586198 G A SNP ITGB7 ENST00000267082 human ensembl 69_37n -1 known missense c.2071 p.R691W 0.601 pirsf_Integrin_bsu,superfamily_Integrin_bsu_tail pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_EGF_extracell,superfamily_Plexin-like_fold,superfamily_Integrin_bsu_tail,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB7 HGNC ENSG00000139626 168 0 0.00 90 24 21.05 - - - ITIH2 0 genome.wustl.edu 37 10 7785211 7785211 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 7785211 7785211 A G SNP ITIH2 ENST00000358415 human ensembl 69_37n +1 known missense c.2198 p.D733G 1.000 NULL pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH2 HGNC ENSG00000151655 173 0 0.00 121 20 14.18 - - - ITPR1 0 genome.wustl.edu 37 3 4716875 4716875 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 4716875 4716875 A G SNP ITPR1 ENST00000302640 human ensembl 69_37n +1 known missense c.2677 p.S893G 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 104 0 0.00 107 23 17.69 - - - ITPRIPL1 0 genome.wustl.edu 37 2 96992655 96992655 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 96992655 96992655 T C SNP ITPRIPL1 ENST00000361124 human ensembl 69_37n +1 known missense c.310 p.F104L 0.928 NULL NULL - no_errors ITPRIPL1 HGNC ENSG00000198885 105 0 0.00 61 8 11.59 - - - ITSN1 0 genome.wustl.edu 37 21 35147278 35147278 + Frame_Shift_Del DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 21 35147278 35147278 A - DEL ITSN1 ENST00000381285 human ensembl 69_37n +1 known frame_shift_del c.1462 p.K489fs 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,prints_SH3_domain,prints_p67phox,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ITSN1 HGNC ENSG00000205726 184 0 0.00 213 39 15.23 - - - IVNS1ABP 0 genome.wustl.edu 37 1 185267688 185267688 + RNA SNP A A T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 185267688 185267688 A T SNP IVNS1ABP ENST00000494880 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors IVNS1ABP HGNC ENSG00000116679 12 0 0.00 9 7 43.75 - - - IVNS1ABP 0 genome.wustl.edu 37 1 185278213 185278213 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 185278213 185278213 T C SNP IVNS1ABP ENST00000367498 human ensembl 69_37n -1 known missense c.203 p.H68R 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_Kelch_2,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors IVNS1ABP HGNC ENSG00000116679 79 0 0.00 114 21 15.56 - - - JAK1 0 genome.wustl.edu 37 1 65310574 65310574 + Splice_Site SNP T T G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 65310574 65310574 T G SNP JAK1 ENST00000342505 human ensembl 69_37n -1 known splice_site c.2116-2 e15-2 0.995 - - - no_errors JAK1 HGNC ENSG00000162434 51 0 0.00 29 12 29.27 - - - JAK3 0 genome.wustl.edu 37 19 17945532 17945532 + Splice_Site SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 17945532 17945532 T C SNP JAK3 ENST00000458235 human ensembl 69_37n -1 known splice_site c.2200-2 e16-2 1.000 - - - no_errors JAK3 HGNC ENSG00000105639 98 0 0.00 45 13 22.41 - - - JOSD1 0 genome.wustl.edu 37 22 39085345 39085345 + Silent SNP T T G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 22 39085345 39085345 T G SNP JOSD1 ENST00000216039 human ensembl 69_37n -1 known silent c.270 p.A90 0.608 pfam_Josephin,pfscan_Josephin pfam_Josephin,pfscan_Josephin - no_errors JOSD1 HGNC ENSG00000100221 129 1 0.77 45 47 51.09 - - - JPH4 0 genome.wustl.edu 37 14 24040653 24040653 + Missense_Mutation SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 14 24040653 24040653 C A SNP JPH4 ENST00000356300 human ensembl 69_37n -1 known missense c.1287 p.Q429H 1.000 pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH4 HGNC ENSG00000092051 151 0 0.00 39 60 60.61 - - - KALRN 0 genome.wustl.edu 37 3 124201667 124201667 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 124201667 124201667 C T SNP KALRN ENST00000360013 human ensembl 69_37n +1 known missense c.4198 p.R1400W 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 133 0 0.00 98 48 32.88 - - - KANK2 0 genome.wustl.edu 37 19 11280554 11280554 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 11280554 11280554 G A SNP KANK2 ENST00000432929 human ensembl 69_37n -1 known missense c.2525 p.S842L 1.000 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK2 HGNC ENSG00000197256 38 0 0.00 22 6 21.43 - - - KANSL1 0 genome.wustl.edu 37 17 44109601 44109601 + Frame_Shift_Del DEL G G - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 44109601 44109601 G - DEL KANSL1 ENST00000262419 human ensembl 69_37n -1 known frame_shift_del c.2902 p.Q968fs 0.999 NULL NULL - no_errors KANSL1 HGNC ENSG00000120071 58 0 0.00 34 11 22.92 - - - KAT6B 0 genome.wustl.edu 37 10 76781833 76781833 + Silent SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 76781833 76781833 A G SNP KAT6B ENST00000287239 human ensembl 69_37n +1 known silent c.3216 p.E1072 0.979 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6B HGNC ENSG00000156650 111 1 0.89 66 8 10.53 - - - KBTBD2 0 genome.wustl.edu 37 7 32910447 32910447 + Frame_Shift_Del DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 7 32910447 32910447 T - DEL KBTBD2 ENST00000304056 human ensembl 69_37n -1 known frame_shift_del c.382 p.I128fs 1.000 superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD2 HGNC ENSG00000170852 68 0 0.00 27 35 54.69 - - - KCNA2 0 genome.wustl.edu 37 1 111146137 111146137 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 111146137 111146137 C T SNP KCNA2 ENST00000316361 human ensembl 69_37n -1 known missense c.1268 p.G423E 1.000 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.2,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3,prints_2pore_dom_K_chnl,prints_K_chnl_volt-dep_Kv1.1 - no_errors KCNA2 HGNC ENSG00000177301 217 0 0.00 87 27 23.68 - - - KCNC1 0 genome.wustl.edu 37 11 17793278 17793278 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 17793278 17793278 G A SNP KCNC1 ENST00000265969 human ensembl 69_37n +1 known missense c.637 p.E213K 1.000 prints_K_chnl_volt-dep_Kv3.1 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9 - no_errors KCNC1 HGNC ENSG00000129159 138 0 0.00 106 35 24.82 - - - KCNH4 0 genome.wustl.edu 37 17 40321597 40321597 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 40321597 40321597 C T SNP KCNH4 ENST00000264661 human ensembl 69_37n -1 known silent c.1488 p.K496 1.000 superfamily_cNMP-bd-like pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,tigrfam_PAS - no_errors KCNH4 HGNC ENSG00000089558 33 0 0.00 16 7 30.43 - - - KCNH8 0 genome.wustl.edu 37 3 19322816 19322818 + In_Frame_Del DEL AAG AAG - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 19322816 19322818 AAG - DEL KCNH8 ENST00000328405 human ensembl 69_37n +1 known in_frame_del c.437_439 p.E147in_frame_del 1.000:1.000:1.000 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS - no_errors KCNH8 HGNC ENSG00000183960 143 0 0.00 158 26 14.13 - - - KCNJ16 0 genome.wustl.edu 37 17 68129141 68129141 + Missense_Mutation SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 68129141 68129141 C A SNP KCNJ16 ENST00000283936 human ensembl 69_37n +1 known missense c.913 p.L305I 1.000 pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2 pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir5,prints_K_chnl_inward-rec_Kir_Cr2 - no_errors KCNJ16 HGNC ENSG00000153822 357 0 0.00 306 82 21.13 - - - KCNK16 0 genome.wustl.edu 37 6 39286910 39286910 + Splice_Site SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 39286910 39286910 C A SNP KCNK16 ENST00000425054 human ensembl 69_37n -1 known splice_site c.214-1 e2-1 1.000 - - - no_errors KCNK16 HGNC ENSG00000095981 63 0 0.00 37 8 17.78 - - - KCNK18 0 genome.wustl.edu 37 10 118969524 118969524 + Frame_Shift_Del DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 118969524 118969524 T - DEL KCNK18 ENST00000334549 human ensembl 69_37n +1 known frame_shift_del c.869 p.F291fs 0.564 pfam_Ion_trans_2 pfam_Ion_trans_2,prints_2pore_dom_K_chnl - no_errors KCNK18 HGNC ENSG00000186795 135 0 0.00 82 23 21.90 - - - KCNK18 0 genome.wustl.edu 37 10 118969695 118969695 + Missense_Mutation SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 118969695 118969695 G T SNP KCNK18 ENST00000334549 human ensembl 69_37n +1 known missense c.1040 p.G347V 1.000 pfam_Ion_trans_2 pfam_Ion_trans_2,prints_2pore_dom_K_chnl - no_errors KCNK18 HGNC ENSG00000186795 124 0 0.00 76 18 19.15 - - - KDELR1 0 genome.wustl.edu 37 19 48892897 48892897 + Frame_Shift_Del DEL C C - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 48892897 48892897 C - DEL KDELR1 ENST00000330720 human ensembl 69_37n -1 known frame_shift_del c.264 p.N89fs 0.926 pfam_ER_ret_rcpt pfam_ER_ret_rcpt,prints_ER_ret_rcpt - no_errors KDELR1 HGNC ENSG00000105438 89 0 0.00 85 79 48.17 - - - KDELR1 0 genome.wustl.edu 37 19 48892902 48892903 + Frame_Shift_Ins INS - - T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 48892902 48892903 - T INS KDELR1 ENST00000330720 human ensembl 69_37n -1 known frame_shift_ins c.259_258 p.D86fs 1.000:0.833 pfam_ER_ret_rcpt pfam_ER_ret_rcpt,prints_ER_ret_rcpt - no_errors KDELR1 HGNC ENSG00000105438 88 0 0.00 85 71 45.51 - - - KDM2A 0 genome.wustl.edu 37 11 67017996 67017996 + Frame_Shift_Del DEL C C - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 67017996 67017996 C - DEL KDM2A ENST00000529006 human ensembl 69_37n +1 known frame_shift_del c.2495 p.R834fs 1.000 NULL pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2A HGNC ENSG00000173120 95 0 0.00 65 8 10.96 - - - KDM3B 0 genome.wustl.edu 37 5 137727458 137727458 + Frame_Shift_Del DEL G G - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 137727458 137727458 G - DEL KDM3B ENST00000314358 human ensembl 69_37n +1 known frame_shift_del c.2137 p.G714fs 0.902 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3B HGNC ENSG00000120733 193 0 0.00 90 23 20.18 - - - KDM5C 0 genome.wustl.edu 37 X 53230805 53230805 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c X 53230805 53230805 G A SNP KDM5C ENST00000375401 human ensembl 69_37n -1 known missense c.1988 p.A663V 1.000 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5C HGNC ENSG00000126012 83 0 0.00 43 16 27.12 - - - KIAA0196 0 genome.wustl.edu 37 8 126062831 126062831 + Frame_Shift_Del DEL C C - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 8 126062831 126062831 C - DEL KIAA0196 ENST00000318410 human ensembl 69_37n -1 known frame_shift_del c.2174 p.G725fs 1.000 pfam_WASH_strumpellin pfam_WASH_strumpellin,superfamily_Ig_E-set - no_errors KIAA0196 HGNC ENSG00000164961 107 0 0.00 45 81 61.83 - - - KIAA0232 0 genome.wustl.edu 37 4 6865646 6865646 + Frame_Shift_Del DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 6865646 6865646 A - DEL KIAA0232 ENST00000307659 human ensembl 69_37n +1 known frame_shift_del c.3537 p.K1181fs 0.997 NULL NULL - no_errors KIAA0232 HGNC ENSG00000170871 201 1 0.50 123 21 14.48 - - - KIAA0240 0 genome.wustl.edu 37 6 42832553 42832553 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 42832553 42832553 C T SNP KIAA0240 ENST00000314073 human ensembl 69_37n +1 known missense c.2609 p.T870M 0.904 NULL NULL - no_errors KIAA0240 HGNC ENSG00000112624 106 0 0.00 99 19 16.10 - - - KIAA0913 0 genome.wustl.edu 37 10 75556970 75556970 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 75556970 75556970 G A SNP KIAA0913 ENST00000398706 human ensembl 69_37n +1 known missense c.3374 p.R1125H 1.000 NULL pfscan_Znf_SWIM - no_errors KIAA0913 HGNC ENSG00000214655 52 0 0.00 19 7 26.92 - - - KIAA0913 0 genome.wustl.edu 37 10 75557732 75557732 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 75557732 75557732 G A SNP KIAA0913 ENST00000398706 human ensembl 69_37n +1 known missense c.3856 p.A1286T 1.000 NULL pfscan_Znf_SWIM - no_errors KIAA0913 HGNC ENSG00000214655 75 0 0.00 32 25 43.86 - - - KIAA0947 0 genome.wustl.edu 37 5 5463483 5463483 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 5463483 5463483 C T SNP KIAA0947 ENST00000296564 human ensembl 69_37n +1 known missense c.4036 p.P1346S 0.000 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 69 0 0.00 78 23 22.77 - - - KIAA1033 0 genome.wustl.edu 37 12 105550482 105550483 + RNA INS - - T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 105550482 105550483 - T INS KIAA1033 ENST00000551290 human ensembl 69_37n +1 known rna NULL NULL 0.242:0.638 - - - no_errors KIAA1033 HGNC ENSG00000136051 80 0 0.00 86 17 16.50 - - - KIAA1432 0 genome.wustl.edu 37 9 5772697 5772697 + Nonsense_Mutation SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 5772697 5772697 G T SNP KIAA1432 ENST00000545641 human ensembl 69_37n +1 novel nonsense c.3424 p.G1142* 1.000 NULL pfam_Ribosome_control_1,superfamily_WD40_repeat_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region KIAA1432 HGNC ENSG00000107036 93 0 0.00 78 12 13.33 - - - KIAA1586 0 genome.wustl.edu 37 6 56918118 56918118 + Frame_Shift_Del DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 56918118 56918118 A - DEL KIAA1586 ENST00000370733 human ensembl 69_37n +1 known frame_shift_del c.821 p.N276fs 1.000 NULL superfamily_RNaseH-like_dom - no_errors KIAA1586 HGNC ENSG00000168116 124 0 0.00 112 21 15.56 - - - KIAA1598 0 genome.wustl.edu 37 10 118661318 118661318 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 118661318 118661318 G A SNP KIAA1598 ENST00000392903 human ensembl 69_37n -1 known missense c.1631 p.P544L 0.524 NULL superfamily_Adenylate_cyclase-assoc_CAP_N - no_errors KIAA1598 HGNC ENSG00000187164 41 0 0.00 33 7 17.50 - - - KIAA1683 0 genome.wustl.edu 37 19 18377937 18377937 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 18377937 18377937 C T SNP KIAA1683 ENST00000392413 human ensembl 69_37n -1 known missense c.413 p.R138Q 0.152 NULL pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors KIAA1683 HGNC ENSG00000130518 30 0 0.00 30 7 18.92 - - - KIAA1841 0 genome.wustl.edu 37 2 61315532 61315534 + In_Frame_Del DEL AAG AAG - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 61315532 61315534 AAG - DEL KIAA1841 ENST00000356719 human ensembl 69_37n +1 known in_frame_del c.1017_1019 p.R341in_frame_del 1.000:1.000:1.000 pfam_DUF3342 pfam_DUF3342,superfamily_BTB/POZ_fold,superfamily_Homeodomain-like - no_errors KIAA1841 HGNC ENSG00000162929 63 0 0.00 45 24 34.78 - - - KIAA2022 0 genome.wustl.edu 37 X 73962127 73962127 + Silent SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c X 73962127 73962127 T C SNP KIAA2022 ENST00000055682 human ensembl 69_37n -1 known silent c.2265 p.S755 0.000 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 533 0 0.00 240 112 31.73 - - - KIF16B 0 genome.wustl.edu 37 20 16359595 16359595 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 20 16359595 16359595 C T SNP KIF16B ENST00000408042 human ensembl 69_37n -1 known missense c.3052 p.A1018T 0.998 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF16B HGNC ENSG00000089177 414 0 0.00 446 103 18.73 - - - KIF17 0 genome.wustl.edu 37 1 21014090 21014090 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 21014090 21014090 G A SNP KIF17 ENST00000247986 human ensembl 69_37n -1 known silent c.1729 p.L577 0.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF17 HGNC ENSG00000117245 87 0 0.00 51 15 22.73 - - - KIF18A 0 genome.wustl.edu 37 11 28113051 28113051 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 28113051 28113051 C T SNP KIF18A ENST00000263181 human ensembl 69_37n -1 known missense c.493 p.E165K 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF18A HGNC ENSG00000121621 128 0 0.00 84 59 41.26 - - - KIF1C 0 genome.wustl.edu 37 17 4905419 4905419 + Missense_Mutation SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 4905419 4905419 G T SNP KIF1C ENST00000320785 human ensembl 69_37n +1 known missense c.429 p.E143D 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1C HGNC ENSG00000129250 87 0 0.00 40 10 20.00 - - - KIF1C 0 genome.wustl.edu 37 17 4908271 4908271 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 4908271 4908271 G A SNP KIF1C ENST00000320785 human ensembl 69_37n +1 known missense c.1141 p.G381R 1.000 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1C HGNC ENSG00000129250 64 0 0.00 25 6 19.35 - - - KIF20B 0 genome.wustl.edu 37 10 91478521 91478521 + Frame_Shift_Del DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 91478521 91478521 T - DEL KIF20B ENST00000416354 human ensembl 69_37n +1 known frame_shift_del c.1326 p.F444fs 0.995 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20B HGNC ENSG00000138182 81 0 0.00 54 11 16.92 - - - KIF21A 0 genome.wustl.edu 37 12 39725549 39725549 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 39725549 39725549 G A SNP KIF21A ENST00000547108 human ensembl 69_37n -1 known missense c.869 p.A290V 1.000 superfamily_Prefoldin superfamily_Prefoldin - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region KIF21A HGNC ENSG00000139116 261 0 0.00 212 42 16.54 - - - KIF23 0 genome.wustl.edu 37 15 69732289 69732289 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 15 69732289 69732289 G A SNP KIF23 ENST00000260363 human ensembl 69_37n +1 known missense c.1760 p.R587H 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF23 HGNC ENSG00000137807 90 0 0.00 78 31 28.44 - - - KIF3C 0 genome.wustl.edu 37 2 26204466 26204466 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 26204466 26204466 C T SNP KIF3C ENST00000264712 human ensembl 69_37n -1 known missense c.321 p.M107I 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3C HGNC ENSG00000084731 119 0 0.00 58 12 17.14 - - - KIF9 0 genome.wustl.edu 37 3 47284577 47284577 + Missense_Mutation SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 47284577 47284577 G T SNP KIF9 ENST00000265529 human ensembl 69_37n -1 known missense c.1673 p.P558H 0.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF9 HGNC ENSG00000088727 70 0 0.00 50 6 10.71 - - - KIFAP3 0 genome.wustl.edu 37 1 169961353 169961353 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 169961353 169961353 G A SNP KIFAP3 ENST00000361580 human ensembl 69_37n -1 known silent c.1227 p.H409 1.000 superfamily_ARM-type_fold,smart_Armadillo superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors KIFAP3 HGNC ENSG00000075945 75 0 0.00 64 16 20.00 - - - KL 0 genome.wustl.edu 37 13 33638251 33638252 + Frame_Shift_Ins INS - - T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 13 33638251 33638252 - T INS KL ENST00000380099 human ensembl 69_37n +1 known frame_shift_ins c.2967_2968 p.A991fs 0.002:0.000 NULL pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KL HGNC ENSG00000133116 144 0 0.00 146 35 19.34 - - - KLF12 0 genome.wustl.edu 37 13 74387010 74387010 + RNA DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 13 74387010 74387010 T - DEL KLF12 ENST00000472022 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors KLF12 HGNC ENSG00000118922 20 0 0.00 14 5 26.32 - - - KLHDC3 0 genome.wustl.edu 37 6 42984952 42984952 + Missense_Mutation SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 42984952 42984952 C A SNP KLHDC3 ENST00000326974 human ensembl 69_37n +1 known missense c.22 p.L8M 1.000 NULL pfam_Kelch_2,pfam_Kelch_1 - no_errors KLHDC3 HGNC ENSG00000124702 21 0 0.00 15 5 25.00 - - - KLHL14 0 genome.wustl.edu 37 18 30321985 30321985 + Silent SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 18 30321985 30321985 T C SNP KLHL14 ENST00000359358 human ensembl 69_37n -1 known silent c.975 p.L325 0.998 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL14 HGNC ENSG00000197705 101 0 0.00 98 19 16.24 - - - KLHL2 0 genome.wustl.edu 37 4 166160017 166160017 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 166160017 166160017 C T SNP KLHL2 ENST00000226725 human ensembl 69_37n +1 known missense c.347 p.T116I 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,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 KLHL2 HGNC ENSG00000109466 202 0 0.00 185 31 14.35 - - - KLHL31 0 genome.wustl.edu 37 6 53519885 53519885 + Silent SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 53519885 53519885 A G SNP KLHL31 ENST00000370905 human ensembl 69_37n -1 known silent c.186 p.G62 0.012 superfamily_BTB/POZ_fold,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_DUF1668_ORYSA,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL31 HGNC ENSG00000124743 71 0 0.00 40 22 35.48 - - - KLK5 0 genome.wustl.edu 37 19 51452297 51452298 + Frame_Shift_Ins INS - - C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 51452297 51452298 - C INS KLK5 ENST00000336334 human ensembl 69_37n -1 known frame_shift_ins c.410_409 p.V137fs 0.004:0.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors KLK5 HGNC ENSG00000167754 32 0 0.00 23 14 37.84 - - - KPNA3 0 genome.wustl.edu 37 13 50279782 50279782 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 13 50279782 50279782 T C SNP KPNA3 ENST00000261667 human ensembl 69_37n -1 known missense c.1347 p.I449M 1.000 superfamily_ARM-type_fold pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA3 HGNC ENSG00000102753 160 0 0.00 144 42 22.58 - - - KRIT1 0 genome.wustl.edu 37 7 91870426 91870426 + Frame_Shift_Del DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 7 91870426 91870426 T - DEL KRIT1 ENST00000340022 human ensembl 69_37n -1 known frame_shift_del c.143 p.K48fs 0.999 NULL pfam_FERM_central,superfamily_Ankyrin_rpt-contain_dom,superfamily_FERM_central,smart_Ankyrin_rpt,smart_Band_41_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_FERM_domain - no_errors KRIT1 HGNC ENSG00000001631 53 0 0.00 30 6 16.67 - - - KRT20 0 genome.wustl.edu 37 17 39041193 39041193 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 39041193 39041193 G A SNP KRT20 ENST00000167588 human ensembl 69_37n -1 known missense c.245 p.A82V 1.000 pfam_F pfam_F,prints_Keratin_I - no_errors KRT20 HGNC ENSG00000171431 92 0 0.00 99 14 12.39 - - - KRT27 0 genome.wustl.edu 37 17 38935967 38935967 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 38935967 38935967 G A SNP KRT27 ENST00000301656 human ensembl 69_37n -1 known silent c.831 p.A277 1.000 pfam_F,superfamily_Prefoldin pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT27 HGNC ENSG00000171446 58 0 0.00 34 5 12.82 - - - KRT8 0 genome.wustl.edu 37 12 53292614 53292614 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 53292614 53292614 C T SNP KRT8 ENST00000293308 human ensembl 69_37n -1 known missense c.1051 p.A351T 0.001 pfam_F,prints_Keratin_II,prints_Keratin_I pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT8 HGNC ENSG00000170421 87 0 0.00 42 28 40.00 - - - KRT83 0 genome.wustl.edu 37 12 52713036 52713036 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 52713036 52713036 G A SNP KRT83 ENST00000293670 human ensembl 69_37n -1 known missense c.497 p.T166I 0.998 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT83 HGNC ENSG00000170523 185 0 0.00 95 26 21.31 - - - KRTAP10-12 0 genome.wustl.edu 37 21 46117231 46117231 + Frame_Shift_Del DEL C C - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 21 46117231 46117231 C - DEL KRTAP10-12 ENST00000400365 human ensembl 69_37n +1 known frame_shift_del c.115 p.C41fs 1.000 NULL NULL - no_errors KRTAP10-12 HGNC ENSG00000189169 271 0 0.00 199 39 16.18 - - - KRTAP10-9 0 genome.wustl.edu 37 21 46047173 46047173 + Frame_Shift_Del DEL C C - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 21 46047173 46047173 C - DEL KRTAP10-9 ENST00000397911 human ensembl 69_37n +1 known frame_shift_del c.85 p.C31fs 0.998 NULL NULL - no_errors KRTAP10-9 HGNC ENSG00000221837 73 0 0.00 40 29 40.28 - - - KRTAP5-1 0 genome.wustl.edu 37 11 1606216 1606217 + Frame_Shift_Ins INS - - C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 1606216 1606217 - C INS KRTAP5-1 ENST00000382171 human ensembl 69_37n -1 known frame_shift_ins c.264_263 p.C89fs 0.992:0.975 NULL NULL - no_errors KRTAP5-1 HGNC ENSG00000205869 96 0 0.00 87 11 11.22 - - - L3MBTL3 0 genome.wustl.edu 37 6 130399761 130399761 + Missense_Mutation SNP A A C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 130399761 130399761 A C SNP L3MBTL3 ENST00000361794 human ensembl 69_37n +1 known missense c.1303 p.T435P 0.220 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors L3MBTL3 HGNC ENSG00000198945 206 0 0.00 178 27 13.17 - - - LACTB2 0 genome.wustl.edu 37 8 71553137 71553137 + Missense_Mutation SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 8 71553137 71553137 C A SNP LACTB2 ENST00000276590 human ensembl 69_37n -1 known missense c.741 p.K247N 1.000 NULL pfam_Beta-lactamas-like,smart_Beta-lactamas-like - no_errors LACTB2 HGNC ENSG00000147592 41 0 0.00 34 12 26.09 - - - LARP7 0 genome.wustl.edu 37 4 113570754 113570754 + Frame_Shift_Del DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 113570754 113570754 A - DEL LARP7 ENST00000324052 human ensembl 69_37n +1 known frame_shift_del c.1206 p.T405fs 1.000 NULL pfam_RRM_3,pfam_Lupus_La_RNA-bd,pfam_RRM_dom,smart_Lupus_La_RNA-bd,smart_RRM_dom,pfscan_Lupus_La_RNA-bd,pfscan_RRM_dom,prints_Lupus_La - no_errors LARP7 HGNC ENSG00000174720 45 0 0.00 51 11 17.19 - - - LCE5A 0 genome.wustl.edu 37 1 152484252 152484252 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 152484252 152484252 G A SNP LCE5A ENST00000334269 human ensembl 69_37n +1 known missense c.242 p.R81Q 0.000 NULL NULL - no_errors LCE5A HGNC ENSG00000186207 53 0 0.00 31 12 27.91 - - - LCOR 0 genome.wustl.edu 37 10 98709040 98709040 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 98709040 98709040 C T SNP LCOR ENST00000356016 human ensembl 69_37n +1 known missense c.226 p.P76S 1.000 NULL pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq - no_errors LCOR HGNC ENSG00000196233 241 0 0.00 133 50 27.32 - - - LENEP 0 genome.wustl.edu 37 1 154966135 154966135 + Missense_Mutation SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 154966135 154966135 G T SNP LENEP ENST00000368427 human ensembl 69_37n +1 known missense c.52 p.G18W 0.218 NULL NULL - no_errors LENEP HGNC ENSG00000163352 42 0 0.00 51 8 13.56 - - - LGALS3 0 genome.wustl.edu 37 14 55604413 55604413 + Splice_Site SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 14 55604413 55604413 G A SNP LGALS3 ENST00000556322 human ensembl 69_37n +1 known splice_site c.NULL NULL 0.000 - - - no_errors LGALS3 HGNC ENSG00000131981 21 0 0.00 7 3 30.00 - - - LGR5 0 genome.wustl.edu 37 12 71977911 71977911 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 71977911 71977911 C T SNP LGR5 ENST00000266674 human ensembl 69_37n +1 known silent c.2121 p.G707 0.021 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Gphrmn_rcpt 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 268 0 0.00 247 59 19.28 - - - LGSN 0 genome.wustl.edu 37 6 63990607 63990607 + Silent SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 63990607 63990607 A G SNP LGSN ENST00000370657 human ensembl 69_37n -1 known silent c.849 p.F283 0.994 pfam_Gln_synth_cat_dom pfam_Gln_synth_cat_dom,pfam_Gln_synt_beta,superfamily_Gln_synt_beta - no_errors LGSN HGNC ENSG00000146166 87 0 0.00 82 14 14.58 - - - LIG3 0 genome.wustl.edu 37 17 33319012 33319012 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 33319012 33319012 T C SNP LIG3 ENST00000378526 human ensembl 69_37n +1 known missense c.1244 p.L415S 1.000 pfam_DNA_ligase_ATP-dep_N,superfamily_DNA_ligase_ATP-dep_N,tigrfam_DNA_ligase_ATP-dep pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_Znf_PARP,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG3 HGNC ENSG00000005156 160 0 0.00 117 24 17.02 - - - LIMCH1 0 genome.wustl.edu 37 4 41621389 41621390 + Frame_Shift_Del DEL AG AG - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 41621389 41621390 AG - DEL LIMCH1 ENST00000503057 human ensembl 69_37n +1 known frame_shift_del c.390_391 p.E133fs 0.000:0.999 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMCH1 HGNC ENSG00000064042 162 0 0.00 105 62 36.47 - - - LIMCH1 0 genome.wustl.edu 37 4 41648508 41648509 + Frame_Shift_Del DEL GA GA - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 41648508 41648509 GA - DEL LIMCH1 ENST00000503057 human ensembl 69_37n +1 known frame_shift_del c.2418_2419 p.E810fs 0.997:1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMCH1 HGNC ENSG00000064042 310 2 0.64 214 38 14.84 - - - LIMK1 0 genome.wustl.edu 37 7 73535310 73535311 + Frame_Shift_Ins INS - - C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 7 73535310 73535311 - C INS LIMK1 ENST00000336180 human ensembl 69_37n +1 known frame_shift_ins c.1712_1713 p.N574fs 1.000:0.994 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Znf_LIM,pfam_PDZ,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LIMK1 HGNC ENSG00000106683 127 1 0.78 57 16 21.92 - - - LINGO4 0 genome.wustl.edu 37 1 151774033 151774033 + Frame_Shift_Del DEL G G - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 151774033 151774033 G - DEL LINGO4 ENST00000368820 human ensembl 69_37n -1 known frame_shift_del c.1148 p.P383fs 1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LINGO4 HGNC ENSG00000213171 91 0 0.00 69 15 17.65 - - - LIPN 0 genome.wustl.edu 37 10 90537856 90537856 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 90537856 90537856 G A SNP LIPN ENST00000404459 human ensembl 69_37n +1 known missense c.1054 p.V352M 0.999 pfam_AB_hydrolase_1 pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1 - no_errors LIPN HGNC ENSG00000204020 91 0 0.00 61 8 11.59 - - - LMAN1L 0 genome.wustl.edu 37 15 75111609 75111609 + Frame_Shift_Del DEL G G - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 15 75111609 75111609 G - DEL LMAN1L ENST00000309664 human ensembl 69_37n +1 known frame_shift_del c.714 p.A239fs 0.995 pfam_Lectin_leg,superfamily_ConA-like_lec_gl pfam_Lectin_leg,superfamily_ConA-like_lec_gl - no_errors LMAN1L HGNC ENSG00000140506 62 0 0.00 20 9 29.03 - - - LMO7 0 genome.wustl.edu 37 13 76415789 76415789 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 13 76415789 76415789 G A SNP LMO7 ENST00000357063 human ensembl 69_37n +1 known missense c.3857 p.S1286N 0.001 NULL pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin - no_errors LMO7 HGNC ENSG00000136153 221 0 0.00 141 88 38.43 - - - LMTK2 0 genome.wustl.edu 37 7 97822930 97822930 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 7 97822930 97822930 C T SNP LMTK2 ENST00000297293 human ensembl 69_37n +1 known silent c.3153 p.T1051 0.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK2 HGNC ENSG00000164715 58 0 0.00 50 25 33.33 - - - LNPEP 0 genome.wustl.edu 37 5 96315249 96315249 + Frame_Shift_Del DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 96315249 96315249 A - DEL LNPEP ENST00000231368 human ensembl 69_37n +1 known frame_shift_del c.427 p.N145fs 0.910 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors LNPEP HGNC ENSG00000113441 242 0 0.00 164 51 23.72 - - - LPA 0 genome.wustl.edu 37 6 161021955 161021956 + Frame_Shift_Ins INS - - A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 161021955 161021956 - A INS LPA ENST00000316300 human ensembl 69_37n -1 known frame_shift_ins c.3121_3120 p.E1040fs 0.007:0.002 NULL pfam_Kringle,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1_S6 - no_errors LPA HGNC ENSG00000198670 159 1 0.62 127 21 14.19 - - - LPA 0 genome.wustl.edu 37 6 161056206 161056206 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 161056206 161056206 C T SNP LPA ENST00000316300 human ensembl 69_37n -1 known missense c.1024 p.A342T 0.000 superfamily_Kringle-like pfam_Kringle,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1_S6 - no_errors LPA HGNC ENSG00000198670 220 0 0.00 182 29 13.74 - - - LPGAT1 0 genome.wustl.edu 37 1 211952290 211952290 + Missense_Mutation SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 211952290 211952290 C A SNP LPGAT1 ENST00000366996 human ensembl 69_37n -1 known missense c.824 p.R275M 1.000 NULL pfam_Acyltransferase,smart_Acyltransferase - no_errors LPGAT1 HGNC ENSG00000123684 113 0 0.00 169 35 17.16 - - - LRBA 0 genome.wustl.edu 37 4 151231401 151231401 + Nonsense_Mutation SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 151231401 151231401 C A SNP LRBA ENST00000509835 human ensembl 69_37n -1 novel nonsense c.3787 p.E1263* 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_BEACH_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region LRBA HGNC ENSG00000198589 62 0 0.00 66 8 10.81 - - - LRCH1 0 genome.wustl.edu 37 13 47297426 47297426 + Missense_Mutation SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 13 47297426 47297426 G T SNP LRCH1 ENST00000389798 human ensembl 69_37n +1 known missense c.1725 p.Q575H 1.000 superfamily_CH-domain pfam_Leu-rich_rpt,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH1 HGNC ENSG00000136141 107 0 0.00 84 20 19.23 - - - LRG1 0 genome.wustl.edu 37 19 4538288 4538288 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 4538288 4538288 C T SNP LRG1 ENST00000306390 human ensembl 69_37n -1 known silent c.708 p.P236 0.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRG1 HGNC ENSG00000171236 144 1 0.68 27 30 52.63 - - - LRP1 0 genome.wustl.edu 37 12 57556255 57556255 + Silent SNP G G C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 57556255 57556255 G C SNP LRP1 ENST00000243077 human ensembl 69_37n +1 known silent c.2358 p.R786 0.969 NULL pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1 HGNC ENSG00000123384 63 0 0.00 40 33 45.21 - - - LRP5 0 genome.wustl.edu 37 11 68133068 68133068 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 68133068 68133068 G A SNP LRP5 ENST00000294304 human ensembl 69_37n +1 known missense c.913 p.G305S 1.000 pirsf_Low_density_Lipo_rcpt-rel_p5/6,smart_EGF-like pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EGF-like,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC ENSG00000162337 59 0 0.00 28 11 28.21 - - - LRP6 0 genome.wustl.edu 37 12 12312058 12312058 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 12312058 12312058 C T SNP LRP6 ENST00000538239 human ensembl 69_37n -1 known missense c.2090 p.C697Y 1.000 smart_LDLR_classB_rpt pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EGF-like,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region LRP6 HGNC ENSG00000070018 89 0 0.00 54 35 39.33 - - - LRPPRC 0 genome.wustl.edu 37 2 44145165 44145165 + Frame_Shift_Del DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 44145165 44145165 T - DEL LRPPRC ENST00000260665 human ensembl 69_37n -1 known frame_shift_del c.3147 p.A1051fs 0.844 NULL pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat - no_errors LRPPRC HGNC ENSG00000138095 52 0 0.00 51 11 17.74 - - - LRR1 0 genome.wustl.edu 37 14 50074610 50074610 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 14 50074610 50074610 A G SNP LRR1 ENST00000298288 human ensembl 69_37n +1 known missense c.775 p.N259D 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRR1 HGNC ENSG00000165501 60 0 0.00 46 11 19.30 - - - LRRC14B 0 genome.wustl.edu 37 5 195153 195153 + Silent SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 195153 195153 C A SNP LRRC14B ENST00000328278 human ensembl 69_37n +1 novel silent c.1230 p.T410 0.000 NULL NULL - no_errors LRRC14B HGNC ENSG00000185028 30 0 0.00 12 16 57.14 - - - LRRC33 0 genome.wustl.edu 37 3 196388498 196388499 + Frame_Shift_Ins INS - - C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 196388498 196388499 - C INS LRRC33 ENST00000328557 human ensembl 69_37n +1 known frame_shift_ins c.1984_1985 p.L663fs 1.000:1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC33 HGNC ENSG00000174004 59 0 0.00 40 6 13.04 - - - LRRC41 0 genome.wustl.edu 37 1 46751495 46751495 + Frame_Shift_Del DEL G G - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 46751495 46751495 G - DEL LRRC41 ENST00000343304 human ensembl 69_37n -1 known frame_shift_del c.1034 p.P345fs 0.616 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC41 HGNC ENSG00000132128 148 0 0.00 118 40 25.32 - - - LRRIQ1 0 genome.wustl.edu 37 12 85547514 85547515 + Frame_Shift_Ins INS - - A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 85547514 85547515 - A INS LRRIQ1 ENST00000393217 human ensembl 69_37n +1 known frame_shift_ins c.4615_4616 p.I1542fs 1.000:1.000 NULL pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 21 0 0.00 11 3 21.43 - - - LRRK2 0 genome.wustl.edu 37 12 40657647 40657647 + Frame_Shift_Del DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 40657647 40657647 A - DEL LRRK2 ENST00000298910 human ensembl 69_37n +1 known frame_shift_del c.1600 p.K535fs 0.012 superfamily_ARM-type_fold pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 239 0 0.00 236 50 17.36 - - - LRRN1 0 genome.wustl.edu 37 3 3888334 3888334 + Frame_Shift_Del DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 3888334 3888334 A - DEL LRRN1 ENST00000319331 human ensembl 69_37n +1 known frame_shift_del c.2009 p.T672fs 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,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 LRRN1 HGNC ENSG00000175928 136 0 0.00 81 41 33.61 - - - LRRN4 0 genome.wustl.edu 37 20 6022293 6022296 + Frame_Shift_Del DEL CCTT CCTT - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 CCTT CCTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 20 6022293 6022296 CCTT - DEL LRRN4 ENST00000378858 human ensembl 69_37n -1 known frame_shift_del c.1598_1595 p.E532fs 0.000:0.035:0.028:0.079 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LRRN4 HGNC ENSG00000125872 93 0 0.00 37 15 28.85 - - - LSG1 0 genome.wustl.edu 37 3 194386349 194386351 + In_Frame_Del DEL ATC ATC - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 ATC ATC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 194386349 194386351 ATC - DEL LSG1 ENST00000265245 human ensembl 69_37n -1 known in_frame_del c.458_456 p.I153in_frame_del 0.981:0.979:0.982 NULL pfam_GTP_binding_domain,prints_GTP_binding_domain - no_errors LSG1 HGNC ENSG00000041802 157 0 0.00 175 25 12.44 - - - LSR 0 genome.wustl.edu 37 19 35739784 35739784 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 35739784 35739784 G A SNP LSR ENST00000361790 human ensembl 69_37n +1 known missense c.3 p.M1I 0.000 NULL pfam_LISCH7,smart_Ig_sub,pfscan_Ig-like - no_errors LSR HGNC ENSG00000105699 19 0 0.00 11 7 38.89 - - - LYST 0 genome.wustl.edu 37 1 235993390 235993390 + RNA DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 235993390 235993390 T - DEL LYST ENST00000468626 human ensembl 69_37n -1 known rna NULL NULL 0.005 - - - no_errors LYST HGNC ENSG00000143669 31 0 0.00 29 13 30.95 - - - LZTS1 0 genome.wustl.edu 37 8 20112381 20112381 + Frame_Shift_Del DEL G G - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 8 20112381 20112381 G - DEL LZTS1 ENST00000265801 human ensembl 69_37n -1 known frame_shift_del c.312 p.K105fs 0.989 NULL pfam_Fez1 - no_errors LZTS1 HGNC ENSG00000061337 31 0 0.00 12 7 35.00 - - - MAGI3 0 genome.wustl.edu 37 1 114225754 114225755 + Frame_Shift_Ins INS - - A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 114225754 114225755 - A INS MAGI3 ENST00000307546 human ensembl 69_37n +1 novel frame_shift_ins c.3564_3565 p.N1189fs 0.989:0.998 NULL pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin - no_errors MAGI3 HGNC ENSG00000081026 110 0 0.00 95 19 16.67 - - - MAGOH 0 genome.wustl.edu 37 1 53699579 53699579 + RNA SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 53699579 53699579 G A SNP MAGOH ENST00000495868 human ensembl 69_37n -1 known rna NULL NULL 0.009 - - - no_errors MAGOH HGNC ENSG00000162385 32 0 0.00 21 4 16.00 - - - MAGOHB 0 genome.wustl.edu 37 12 10766111 10766111 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 10766111 10766111 G A SNP MAGOHB ENST00000320756 human ensembl 69_37n -1 known silent c.21 p.F7 1.000 pfam_Mago_nashi,superfamily_Mago_nashi pfam_Mago_nashi,superfamily_Mago_nashi - no_errors MAGOHB HGNC ENSG00000111196 90 0 0.00 82 17 17.17 - - - MALAT1 0 genome.wustl.edu 37 11 65269498 65269498 + RNA DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 65269498 65269498 T - DEL MALAT1 ENST00000534336 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors MALAT1 HGNC ENSG00000251562 55 0 0.00 38 13 25.00 - - - MALAT1 0 genome.wustl.edu 37 11 65271945 65271945 + RNA SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 65271945 65271945 A G SNP MALAT1 ENST00000534336 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors MALAT1 HGNC ENSG00000251562 89 0 0.00 74 17 18.48 - - - MAML1 0 genome.wustl.edu 37 5 179201171 179201171 + Missense_Mutation SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 179201171 179201171 C A SNP MAML1 ENST00000292599 human ensembl 69_37n +1 known missense c.2344 p.P782T 0.906 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML1 HGNC ENSG00000161021 42 0 0.00 12 3 20.00 - - - MAML3 0 genome.wustl.edu 37 4 140810631 140810632 + In_Frame_Ins INS - - GGT TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 140810631 140810632 - GGT INS MAML3 ENST00000509479 human ensembl 69_37n -1 known in_frame_ins c.1959_1958 p.655in_frame_insP 0.201:0.631 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML3 HGNC ENSG00000196782 338 0 0.00 309 35 10.17 - - - MAML3 0 genome.wustl.edu 37 4 140810638 140810638 + Missense_Mutation SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 140810638 140810638 G T SNP MAML3 ENST00000509479 human ensembl 69_37n -1 known missense c.1952 p.P651Q 0.021 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML3 HGNC ENSG00000196782 326 0 0.00 266 54 16.88 - - - MAMLD1 0 genome.wustl.edu 37 X 149639040 149639040 + Missense_Mutation SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c X 149639040 149639040 C A SNP MAMLD1 ENST00000432680 human ensembl 69_37n +1 known missense c.1120 p.L374M 0.001 NULL NULL - no_errors MAMLD1 HGNC ENSG00000013619 177 0 0.00 95 36 27.27 - - - MAP1A 0 genome.wustl.edu 37 15 43820640 43820640 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 15 43820640 43820640 C T SNP MAP1A ENST00000399453 human ensembl 69_37n +1 known silent c.6969 p.S2323 0.000 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 67 0 0.00 21 10 32.26 - - - MAP3K4 0 genome.wustl.edu 37 6 161528958 161528958 + Missense_Mutation SNP C C G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 161528958 161528958 C G SNP MAP3K4 ENST00000392142 human ensembl 69_37n +1 known missense c.4076 p.T1359S 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K4 HGNC ENSG00000085511 46 0 0.00 57 7 10.77 - - - MAPK10 0 genome.wustl.edu 37 4 87022291 87022291 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 87022291 87022291 C T SNP MAPK10 ENST00000359221 human ensembl 69_37n -1 known missense c.644 p.G215D 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,prints_MAPK_JNK pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_JNK - no_errors MAPK10 HGNC ENSG00000109339 92 0 0.00 88 16 15.38 - - - MAPK7 0 genome.wustl.edu 37 17 19284237 19284237 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 19284237 19284237 T C SNP MAPK7 ENST00000308406 human ensembl 69_37n +1 known missense c.715 p.Y239H 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAPK7 HGNC ENSG00000166484 49 0 0.00 28 14 33.33 - - - MARCH7 0 genome.wustl.edu 37 2 160604680 160604680 + Frame_Shift_Del DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 160604680 160604680 T - DEL MARCH7 ENST00000259050 human ensembl 69_37n +1 known frame_shift_del c.879 p.S296fs 0.910 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH7 HGNC ENSG00000136536 104 0 0.00 82 24 22.64 - - - MAST1 0 genome.wustl.edu 37 19 12958741 12958741 + Nonsense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 12958741 12958741 G A SNP MAST1 ENST00000588379 human ensembl 69_37n +1 putative nonsense c.504 p.W168* 1.000 pfam_MA_Ser/Thr_Kinase_dom,superfamily_MAST_pre-PK_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,superfamily_MAST_pre-PK_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MAST1 HGNC ENSG00000105613 47 0 0.00 27 14 33.33 - - - MAST2 0 genome.wustl.edu 37 1 46485319 46485319 + Frame_Shift_Del DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 46485319 46485319 A - DEL MAST2 ENST00000361297 human ensembl 69_37n +1 known frame_shift_del c.1240 p.K415fs 1.000 pfam_MA_Ser/Thr_Kinase_dom,superfamily_MAST_pre-PK_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST2 HGNC ENSG00000086015 53 0 0.00 44 10 18.52 - - - MCCC2 0 genome.wustl.edu 37 5 70898399 70898400 + Frame_Shift_Ins INS - - A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 70898399 70898400 - A INS MCCC2 ENST00000340941 human ensembl 69_37n +1 known frame_shift_ins c.450_451 p.Q152fs 1.000:1.000 pfam_Carboxyl_trans,pfscan_COA_CT_N pfam_Carboxyl_trans,pfscan_COA_CT_N,pfscan_COA_CT_C - no_errors MCCC2 HGNC ENSG00000131844 290 0 0.00 160 99 38.22 - - - MCM7 0 genome.wustl.edu 37 7 99690708 99690708 + Silent SNP G G C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 7 99690708 99690708 G C SNP MCM7 ENST00000303887 human ensembl 69_37n -1 known silent c.2007 p.V669 0.957 NULL pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase,prints_MCM_7,prints_MCM_4 - no_errors MCM7 HGNC ENSG00000166508 105 0 0.00 50 17 25.37 - - - MCOLN2 0 genome.wustl.edu 37 1 85397106 85397106 + Missense_Mutation SNP A A T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 85397106 85397106 A T SNP MCOLN2 ENST00000370608 human ensembl 69_37n -1 known missense c.1481 p.F494Y 0.999 pfam_PKD1_2_channel pfam_PKD1_2_channel - no_errors MCOLN2 HGNC ENSG00000153898 175 0 0.00 97 29 23.02 - - - MCOLN3 0 genome.wustl.edu 37 1 85491636 85491636 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 85491636 85491636 C T SNP MCOLN3 ENST00000302814 human ensembl 69_37n -1 known missense c.1081 p.E361K 1.000 NULL pfam_PKD1_2_channel - no_errors MCOLN3 HGNC ENSG00000055732 108 0 0.00 47 43 47.78 - - - MCPH1 0 genome.wustl.edu 37 8 6302639 6302639 + Frame_Shift_Del DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 8 6302639 6302639 A - DEL MCPH1 ENST00000344683 human ensembl 69_37n +1 known frame_shift_del c.1396 p.T468fs 0.010 pfam_Microcephalin pfam_Microcephalin,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors MCPH1 HGNC ENSG00000147316 142 0 0.00 74 111 57.51 - - - MDC1 0 genome.wustl.edu 37 6 30672555 30672555 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 30672555 30672555 G A SNP MDC1 ENST00000376406 human ensembl 69_37n -1 known missense c.4405 p.P1469S 0.001 NULL pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC ENSG00000137337 223 0 0.00 197 33 14.29 - - - MDC1 0 genome.wustl.edu 37 6 30673051 30673051 + Frame_Shift_Del DEL G G - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 30673051 30673051 G - DEL MDC1 ENST00000376406 human ensembl 69_37n -1 known frame_shift_del c.3909 p.K1304fs 0.000 NULL pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC ENSG00000137337 393 0 0.00 312 44 11.73 - - - MDGA2 0 genome.wustl.edu 37 14 47530771 47530771 + Frame_Shift_Del DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 14 47530771 47530771 T - DEL MDGA2 ENST00000399232 human ensembl 69_37n -1 known frame_shift_del c.1206 p.G403fs 1.000 NULL pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like - no_errors MDGA2 HGNC ENSG00000139915 73 0 0.00 53 13 19.70 - - - MDM2 0 genome.wustl.edu 37 12 69233090 69233090 + Frame_Shift_Del DEL C C - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 69233090 69233090 C - DEL MDM2 ENST00000462284 human ensembl 69_37n +1 known frame_shift_del c.955 p.L321fs 1.000 pfam_Znf_RanBP2,pirsf_p53_neg-reg_MDM_2/4,pfscan_Znf_RanBP2 pfam_SWIB_MDM2_domain,pfam_Znf_RanBP2,superfamily_SWIB_MDM2_domain,pirsf_p53_neg-reg_MDM_2/4,pfscan_Znf_RanBP2,pfscan_Znf_RING - no_errors MDM2 HGNC ENSG00000135679 286 0 0.00 267 55 17.08 - - - MDN1 0 genome.wustl.edu 37 6 90374212 90374212 + Nonsense_Mutation SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 90374212 90374212 C A SNP MDN1 ENST00000369393 human ensembl 69_37n -1 known nonsense c.14230 p.E4744* 1.000 superfamily_ARM-type_fold,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 189 0 0.00 191 41 17.67 - - - MDN1 0 genome.wustl.edu 37 6 90432675 90432675 + Frame_Shift_Del DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 90432675 90432675 T - DEL MDN1 ENST00000369393 human ensembl 69_37n -1 known frame_shift_del c.5966 p.K1989fs 1.000 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 567 5 0.87 489 89 15.29 - - - MECOM 0 genome.wustl.edu 37 3 168833257 168833257 + Frame_Shift_Del DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 168833257 168833257 T - DEL MECOM ENST00000494292 human ensembl 69_37n -1 known frame_shift_del c.2403 p.G802fs 1.000 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors MECOM HGNC ENSG00000085276 90 0 0.00 97 13 11.50 - - - MECP2 0 genome.wustl.edu 37 X 153296881 153296881 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c X 153296881 153296881 C T SNP MECP2 ENST00000303391 human ensembl 69_37n -1 known missense c.398 p.R133H 1.000 pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MeCP2,pfscan_Methyl_CpG_DNA-bd pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,superfamily_Ig_E-set,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MeCP2,pfscan_Methyl_CpG_DNA-bd - no_errors MECP2 HGNC ENSG00000169057 142 0 0.00 58 20 25.64 - - - MED1 0 genome.wustl.edu 37 17 37566765 37566765 + Frame_Shift_Del DEL C C - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 37566765 37566765 C - DEL MED1 ENST00000300651 human ensembl 69_37n -1 known frame_shift_del c.1709 p.G570fs 1.000 NULL pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC ENSG00000125686 113 0 0.00 98 25 20.33 - - - MED12L 0 genome.wustl.edu 37 3 150877657 150877657 + Silent SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 150877657 150877657 T C SNP MED12L ENST00000474524 human ensembl 69_37n +1 known silent c.876 p.R292 0.938 pfam_Mediator_Med12_LCEWAV pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 201 0 0.00 182 32 14.95 - - - MED12L 0 genome.wustl.edu 37 3 151093884 151093884 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 151093884 151093884 C T SNP MED12L ENST00000474524 human ensembl 69_37n +1 known missense c.3830 p.P1277L 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 88 0 0.00 62 28 31.11 - - - MED14 0 genome.wustl.edu 37 X 40571485 40571485 + Missense_Mutation SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c X 40571485 40571485 C A SNP MED14 ENST00000324817 human ensembl 69_37n -1 known missense c.842 p.R281M 1.000 NULL pfam_Mediator_Med14 - no_errors MED14 HGNC ENSG00000180182 391 0 0.00 199 68 25.47 - - - MED4 0 genome.wustl.edu 37 13 48651422 48651422 + Nonsense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 13 48651422 48651422 C T SNP MED4 ENST00000258648 human ensembl 69_37n -1 known nonsense c.666 p.W222* 1.000 NULL pfam_Mediator_Med4 - no_errors MED4 HGNC ENSG00000136146 124 0 0.00 95 20 17.39 - - - MEGF10 0 genome.wustl.edu 37 5 126769093 126769093 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 126769093 126769093 G A SNP MEGF10 ENST00000274473 human ensembl 69_37n +1 known missense c.1732 p.G578S 1.000 smart_EGF_laminin,pfscan_EG-like_dom pfam_EGF_laminin,pfam_EGF_extracell,superfamily_Proteinase_amylase_inhib_dom,smart_EGF-like,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF10 HGNC ENSG00000145794 115 0 0.00 77 14 15.38 - - - MEMO1 0 genome.wustl.edu 37 2 32117107 32117107 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 32117107 32117107 C T SNP MEMO1 ENST00000422936 human ensembl 69_37n -1 known missense c.179 p.R60Q 1.000 pfam_UPF0103/Memo-related pfam_UPF0103/Memo-related - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MEMO1 HGNC ENSG00000162959 271 1 0.37 221 124 35.94 - - - MET 0 genome.wustl.edu 37 7 116380065 116380065 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 7 116380065 116380065 C T SNP MET ENST00000318493 human ensembl 69_37n +1 known missense c.1454 p.P485L 0.996 pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom - no_errors MET HGNC ENSG00000105976 391 1 0.25 254 147 36.66 - - - METTL16 0 genome.wustl.edu 37 17 2341478 2341478 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 2341478 2341478 C T SNP METTL16 ENST00000263092 human ensembl 69_37n -1 known silent c.813 p.T271 1.000 pfam_rRNA_lsu_MeTfrase_F-like,pirsf_S-AdoMet-dep_MeTrfase_Mett10D pfam_rRNA_lsu_MeTfrase_F-like,pirsf_S-AdoMet-dep_MeTrfase_Mett10D - no_errors METTL16 HGNC ENSG00000127804 155 0 0.00 110 65 37.14 - - - MGAT4A 0 genome.wustl.edu 37 2 99256589 99256590 + Frame_Shift_Ins INS - - T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 99256589 99256590 - T INS MGAT4A ENST00000264968 human ensembl 69_37n -1 known frame_shift_ins c.1123_1122 p.L374fs 1.000:1.000 pfam_Glyco_transf_54 pfam_Glyco_transf_54 - no_errors MGAT4A HGNC ENSG00000071073 113 0 0.00 113 20 15.04 - - - MGAT5 0 genome.wustl.edu 37 2 135011964 135011964 + RNA SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 135011964 135011964 G A SNP MGAT5 ENST00000488365 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors MGAT5 HGNC ENSG00000152127 117 0 0.00 93 16 14.68 - - - MIP 0 genome.wustl.edu 37 12 56848144 56848144 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 56848144 56848144 C T SNP MIP ENST00000257979 human ensembl 69_37n -1 known missense c.254 p.R85H 1.000 pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_Aquaporin pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_Aquaporin - no_errors MIP HGNC ENSG00000135517 45 0 0.00 48 6 11.11 - - - MKRN3 0 genome.wustl.edu 37 15 23812065 23812065 + Missense_Mutation SNP A A T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 15 23812065 23812065 A T SNP MKRN3 ENST00000314520 human ensembl 69_37n +1 known missense c.1136 p.E379V 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN3 HGNC ENSG00000179455 98 0 0.00 71 14 16.47 - - - MLH1 0 genome.wustl.edu 37 3 37067127 37067127 + Splice_Site SNP G G C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 37067127 37067127 G C SNP MLH1 ENST00000231790 human ensembl 69_37n +1 known splice_site c.1039-1 e12-1 1.000 - - - no_errors MLH1 HGNC ENSG00000076242 68 0 0 26 21 44.68 - - - MLH1 0 genome.wustl.edu 37 3 37067127 37067127 + Splice_Site SNP G G C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 37067127 37067127 G C SNP MLH1 ENST00000231790 human ensembl 69_37n +1 known splice_site c.1039-1 e12-1 1.000 - - - no_errors MLH1 HGNC ENSG00000076242 68 0 0.00 26 21 44.68 - - - MLL2 0 genome.wustl.edu 37 12 49427950 49427950 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 49427950 49427950 C T SNP MLL2 ENST00000301067 human ensembl 69_37n -1 known missense c.10640 p.R3547H 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 102 0 0.00 44 41 48.24 - - - MLL2 0 genome.wustl.edu 37 12 49445159 49445159 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 49445159 49445159 G A SNP MLL2 ENST00000301067 human ensembl 69_37n -1 known silent c.2307 p.H769 0.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 66 0 0.00 26 5 16.13 - - - MLL2 0 genome.wustl.edu 37 12 49447773 49447773 + Frame_Shift_Del DEL C C - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 49447773 49447773 C - DEL MLL2 ENST00000301067 human ensembl 69_37n -1 known frame_shift_del c.661 p.A221fs 1.000 superfamily_Znf_FYVE_PHD pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 185 0 0.00 99 17 14.66 - - - MLL4 0 genome.wustl.edu 37 19 36224729 36224729 + Missense_Mutation SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 36224729 36224729 G T SNP MLL4 ENST00000222270 human ensembl 69_37n +1 known missense c.7115 p.G2372V 0.976 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors MLL4 Clone_based_vega_gene ENSG00000105663 28 0 0.00 8 12 60.00 - - - MLL4 0 genome.wustl.edu 37 19 36229011 36229011 + Frame_Shift_Del DEL G G - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 36229011 36229011 G - DEL MLL4 ENST00000222270 human ensembl 69_37n +1 known frame_shift_del c.7791 p.E2599fs 0.004 pirsf_MeTrfase_trithorax,pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors MLL4 Clone_based_vega_gene ENSG00000105663 36 0 0.00 28 18 37.50 - - - MMAB 0 genome.wustl.edu 37 12 109996961 109996961 + Splice_Site SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 109996961 109996961 C T SNP MMAB ENST00000545712 human ensembl 69_37n -1 known splice_site c.585-1 e8-1 0.991 - - - no_errors MMAB HGNC ENSG00000139428 43 0 0.00 20 6 23.08 - - - MORN4 0 genome.wustl.edu 37 10 99379370 99379371 + Frame_Shift_Ins INS - - C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 99379370 99379371 - C INS MORN4 ENST00000307450 human ensembl 69_37n -1 known frame_shift_ins c.41_40 p.E14fs 1.000:1.000 smart_MORN pfam_MORN,smart_MORN - no_errors MORN4 HGNC ENSG00000171160 136 0 0.00 79 20 20.20 - - - MORN5 0 genome.wustl.edu 37 9 124962307 124962307 + RNA SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 124962307 124962307 C T SNP MORN5 ENST00000486801 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors MORN5 HGNC ENSG00000185681 88 0 0.00 32 19 37.25 - - - MOV10 0 genome.wustl.edu 37 1 113232169 113232169 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 113232169 113232169 C T SNP MOV10 ENST00000357443 human ensembl 69_37n +1 known silent c.474 p.G158 0.997 NULL NULL - no_errors MOV10 HGNC ENSG00000155363 131 0 0.00 32 31 49.21 - - - MOV10L1 0 genome.wustl.edu 37 22 50582666 50582666 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 22 50582666 50582666 C T SNP MOV10L1 ENST00000262794 human ensembl 69_37n +1 known silent c.2499 p.F833 0.000 NULL superfamily_NA-bd_OB-fold-like - no_errors MOV10L1 HGNC ENSG00000073146 49 0 0.00 34 13 27.66 - - - MRPL15 0 genome.wustl.edu 37 8 55049888 55049888 + Silent SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 8 55049888 55049888 T C SNP MRPL15 ENST00000260102 human ensembl 69_37n +1 known silent c.324 p.G108 0.996 pfam_Ribosomal_L18e/L15P,superfamily_Ribosomal_L18e/L15P pfam_Ribosomal_L18e/L15P,superfamily_Ribosomal_L18e/L15P - no_errors MRPL15 HGNC ENSG00000137547 103 0 0.00 106 20 15.87 - - - MRPS11 0 genome.wustl.edu 37 15 89015951 89015951 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 15 89015951 89015951 C T SNP MRPS11 ENST00000325844 human ensembl 69_37n +1 known silent c.276 p.H92 1.000 pfam_Ribosomal_S11 pfam_Ribosomal_S11 - no_errors MRPS11 HGNC ENSG00000181991 31 0 0.00 38 5 11.63 - - - MRPS21 0 genome.wustl.edu 37 1 150280526 150280526 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 150280526 150280526 G A SNP MRPS21 ENST00000309092 human ensembl 69_37n +1 known missense c.128 p.R43Q 0.998 pfam_Ribosomal_S21,tigrfam_Ribosomal_S21 pfam_Ribosomal_S21,tigrfam_Ribosomal_S21 - no_errors MRPS21 HGNC ENSG00000187145 61 0 0.00 59 9 13.24 - - - MSANTD3 0 genome.wustl.edu 37 9 103213186 103213186 + Nonsense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 103213186 103213186 C T SNP MSANTD3 ENST00000395067 human ensembl 69_37n +1 known nonsense c.766 p.Q256* 1.000 NULL NULL - no_errors MSANTD3 HGNC ENSG00000066697 144 0 0.00 118 18 13.14 - - - MSH5 0 genome.wustl.edu 37 6 31730261 31730261 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 31730261 31730261 G A SNP MSH5 ENST00000375742 human ensembl 69_37n +1 known missense c.2509 p.V837I 0.021 NULL pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH5 HGNC ENSG00000204410 39 0 0.00 37 10 21.28 - - - MTERFD3 0 genome.wustl.edu 37 12 107371422 107371422 + Frame_Shift_Del DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 107371422 107371422 T - DEL MTERFD3 ENST00000240050 human ensembl 69_37n -1 known frame_shift_del c.1071 p.E358fs 0.999 NULL pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel - no_errors MTERFD3 HGNC ENSG00000120832 278 0 0.00 245 67 21.34 - - - MTOR-AS1 0 genome.wustl.edu 37 1 11204829 11204829 + RNA SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 11204829 11204829 G A SNP MTOR-AS1 ENST00000420480 human ensembl 69_37n +1 known rna NULL NULL 0.994 - - - no_errors MTOR-AS1 HGNC ENSG00000225602 106 0 0.00 68 26 27.37 - - - MTTP 0 genome.wustl.edu 37 4 100527949 100527949 + Silent SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 100527949 100527949 A G SNP MTTP ENST00000265517 human ensembl 69_37n +1 known silent c.1389 p.K463 0.393 pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors MTTP HGNC ENSG00000138823 87 0 0.00 62 38 38.00 - - - MUC16 0 genome.wustl.edu 37 19 9071381 9071381 + Silent SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 9071381 9071381 T C SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known silent c.16065 p.P5355 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 561 1 0.18 387 109 21.93 - - - MUC20 0 genome.wustl.edu 37 3 195452738 195452738 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 195452738 195452738 A G SNP MUC20 ENST00000447234 human ensembl 69_37n +1 known missense c.1264 p.I422V 0.000 NULL NULL - no_errors MUC20 HGNC ENSG00000176945 51 0 0.00 33 5 13.16 - - - MYL12B 0 genome.wustl.edu 37 18 3273072 3273072 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 18 3273072 3273072 C T SNP MYL12B ENST00000237500 human ensembl 69_37n +1 known missense c.176 p.A59V 1.000 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors MYL12B HGNC ENSG00000118680 446 0 0.00 227 138 37.70 - - - MYLK 0 genome.wustl.edu 37 3 123452570 123452570 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 123452570 123452570 C T SNP MYLK ENST00000360304 human ensembl 69_37n -1 known missense c.1273 p.V425I 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors MYLK HGNC ENSG00000065534 252 0 0.00 188 46 19.66 - - - MYO18B 0 genome.wustl.edu 37 22 26194051 26194051 + Frame_Shift_Del DEL G G - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 22 26194051 26194051 G - DEL MYO18B ENST00000335473 human ensembl 69_37n +1 known frame_shift_del c.2508 p.A838fs 0.455 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd_dom,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 54 0 0.00 36 11 23.40 - - - MYO1D 0 genome.wustl.edu 37 17 31048090 31048090 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 31048090 31048090 G A SNP MYO1D ENST00000318217 human ensembl 69_37n -1 known missense c.1864 p.R622C 1.000 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 MYO1D HGNC ENSG00000176658 137 0 0.00 108 42 28.00 - - - MYO1E 0 genome.wustl.edu 37 15 59445902 59445902 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 15 59445902 59445902 G A SNP MYO1E ENST00000288235 human ensembl 69_37n -1 known silent c.2967 p.Y989 0.036 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain - no_errors MYO1E HGNC ENSG00000157483 58 0 0.00 44 16 26.67 - - - MYO5A 0 genome.wustl.edu 37 15 52646161 52646161 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 15 52646161 52646161 G A SNP MYO5A ENST00000358212 human ensembl 69_37n -1 known silent c.3474 p.L1158 0.974 NULL pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5A HGNC ENSG00000197535 149 0 0.00 68 29 29.90 - - - MYO9A 0 genome.wustl.edu 37 15 72190580 72190580 + Frame_Shift_Del DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 15 72190580 72190580 A - DEL MYO9A ENST00000424560 human ensembl 69_37n -1 known frame_shift_del c.4264 p.Y1422fs 1.000 NULL pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9A HGNC ENSG00000066933 203 1 0.49 103 65 38.01 - - - MYOCD 0 genome.wustl.edu 37 17 12656559 12656559 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 12656559 12656559 C T SNP MYOCD ENST00000425538 human ensembl 69_37n +1 known missense c.1954 p.P652S 1.000 NULL pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd - no_errors MYOCD HGNC ENSG00000141052 118 0 0.00 128 28 17.95 - - - MYOM3 0 genome.wustl.edu 37 1 24424424 24424424 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 24424424 24424424 A G SNP MYOM3 ENST00000330966 human ensembl 69_37n -1 known missense c.737 p.V246A 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYOM3 HGNC ENSG00000142661 85 0 0.00 63 16 20.25 - - - MYOZ1 0 genome.wustl.edu 37 10 75391841 75391841 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 75391841 75391841 G A SNP MYOZ1 ENST00000359322 human ensembl 69_37n -1 known silent c.747 p.P249 0.997 pfam_Calsarcin-bd pfam_Calsarcin-bd - no_errors MYOZ1 HGNC ENSG00000177791 123 0 0.00 78 33 29.46 - - - MYOZ1 0 genome.wustl.edu 37 10 75394384 75394385 + Frame_Shift_Ins INS - - C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 75394384 75394385 - C INS MYOZ1 ENST00000359322 human ensembl 69_37n -1 known frame_shift_ins c.360_359 p.S121fs 0.893:0.790 pfam_Calsarcin-bd pfam_Calsarcin-bd - no_errors MYOZ1 HGNC ENSG00000177791 105 0 0.00 71 15 17.44 - - - MYPN 0 genome.wustl.edu 37 10 69933947 69933947 + Frame_Shift_Del DEL C C - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 69933947 69933947 C - DEL MYPN ENST00000358913 human ensembl 69_37n +1 known frame_shift_del c.2098 p.P701fs 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MYPN HGNC ENSG00000138347 262 0 0.00 154 50 24.27 - - - NAA25 0 genome.wustl.edu 37 12 112481586 112481586 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 112481586 112481586 C T SNP NAA25 ENST00000261745 human ensembl 69_37n -1 known missense c.2093 p.S698N 1.000 NULL pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom - no_errors NAA25 HGNC ENSG00000111300 181 0 0.00 137 41 23.03 - - - NANOS3 0 genome.wustl.edu 37 19 13988235 13988235 + Missense_Mutation SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 13988235 13988235 C A SNP NANOS3 ENST00000339133 human ensembl 69_37n +1 known missense c.173 p.P58Q 0.362 NULL pfam_Znf_nanos-typ - no_errors NANOS3 HGNC ENSG00000187556 46 0 0.00 20 11 35.48 - - - NAPEPLD 0 genome.wustl.edu 37 7 102760123 102760123 + Frame_Shift_Del DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 7 102760123 102760123 A - DEL NAPEPLD ENST00000455523 human ensembl 69_37n -1 known frame_shift_del c.1061 p.F354fs 1.000 NULL NULL - no_errors NAPEPLD HGNC ENSG00000161048 194 0 0.00 100 59 36.65 - - - NAT1 0 genome.wustl.edu 37 8 18079850 18079851 + Frame_Shift_Ins INS - - A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 8 18079850 18079851 - A INS NAT1 ENST00000545197 human ensembl 69_37n +1 known frame_shift_ins c.480_481 p.Y162fs 0.000:0.000 pfam_Arylamine_N-AcTrfase pfam_Arylamine_N-AcTrfase,prints_Arylamine_N-AcTrfase - no_errors NAT1 HGNC ENSG00000171428 376 0 0.00 417 84 16.77 - - - NBPF10 0 genome.wustl.edu 37 1 145292913 145292913 + RNA SNP T T G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 145292913 145292913 T G SNP NBPF10 ENST00000464433 human ensembl 69_37n +1 known rna NULL NULL 0.002 - - - no_errors NBPF10 HGNC ENSG00000163386 31 0 0.00 48 8 14.04 - - - NCAN 0 genome.wustl.edu 37 19 19335238 19335238 + Frame_Shift_Del DEL G G - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 19335238 19335238 G - DEL NCAN ENST00000252575 human ensembl 69_37n +1 known frame_shift_del c.774 p.G260fs 0.993 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd,smart_EGF-like,smart_C-type_lectin,smart_Sushi_SCR_CCP,prints_Link,prints_AntifreezeII,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like - no_errors NCAN HGNC ENSG00000130287 79 0 0.00 23 5 17.24 - - - NCEH1 0 genome.wustl.edu 37 3 172351310 172351310 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 172351310 172351310 G A SNP NCEH1 ENST00000538775 human ensembl 69_37n -1 known silent c.1302 p.I434 0.149 pirsf_Arylacetamide_deacetylase pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase - no_errors NCEH1 HGNC ENSG00000144959 156 0 0.00 124 41 24.85 - - - NCKAP5 0 genome.wustl.edu 37 2 133540668 133540668 + Missense_Mutation SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 133540668 133540668 C A SNP NCKAP5 ENST00000317721 human ensembl 69_37n -1 known missense c.3716 p.G1239V 0.711 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 142 0 0.00 93 68 42.24 - - - NCOR1 0 genome.wustl.edu 37 17 15964871 15964871 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 15964871 15964871 G A SNP NCOR1 ENST00000268712 human ensembl 69_37n -1 known missense c.5725 p.P1909S 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 372 0 0.00 372 89 19.22 - - - NCOR1 0 genome.wustl.edu 37 17 15965543 15965543 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 15965543 15965543 G A SNP NCOR1 ENST00000268712 human ensembl 69_37n -1 known missense c.5263 p.R1755C 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 173 0 0.00 170 40 18.96 - - - NDE1 0 genome.wustl.edu 37 16 15817980 15817980 + RNA SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 16 15817980 15817980 G A SNP NDE1 ENST00000571896 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors NDE1 HGNC ENSG00000072864 77 0 0.00 36 17 32.08 - - - NDST2 0 genome.wustl.edu 37 10 75563023 75563024 + Frame_Shift_Ins INS - - T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 75563023 75563024 - T INS NDST2 ENST00000309979 human ensembl 69_37n -1 known frame_shift_ins c.2237_2236 p.L746fs 1.000:1.000 pfam_Sulfotransferase_dom pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom - no_errors NDST2 HGNC ENSG00000166507 75 0 0.00 41 5 10.87 - - - NECAP2 0 genome.wustl.edu 37 1 16774558 16774558 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 16774558 16774558 G A SNP NECAP2 ENST00000443980 human ensembl 69_37n +1 known missense c.302 p.R101Q 1.000 pfam_NECAP-1 pfam_NECAP-1 - no_errors NECAP2 HGNC ENSG00000157191 117 0 0.00 67 23 25.56 - - - NEXN 0 genome.wustl.edu 37 1 78398877 78398877 + RNA DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 78398877 78398877 A - DEL NEXN ENST00000480732 human ensembl 69_37n +1 known rna NULL NULL 0.016 - - - no_errors NEXN HGNC ENSG00000162614 21 0 0.00 13 10 40.00 - - - NFE2 0 genome.wustl.edu 37 12 54686949 54686949 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 54686949 54686949 T C SNP NFE2 ENST00000312156 human ensembl 69_37n -1 known missense c.331 p.S111G 1.000 NULL pfam_bZIP_1,pfam_bZIP_2,pfam_bZIP_Maf,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2 HGNC ENSG00000123405 175 0 0.00 113 55 32.74 - - - NFE2L1 0 genome.wustl.edu 37 17 46136805 46136805 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 46136805 46136805 G A SNP NFE2L1 ENST00000362042 human ensembl 69_37n +1 known silent c.2121 p.L707 1.000 pfam_bZIP_1,smart_bZIP,pfscan_bZIP pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L1 HGNC ENSG00000082641 89 0 0.00 40 25 38.46 - - - NFE2L2 0 genome.wustl.edu 37 2 178095531 178095531 + Silent SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 178095531 178095531 T C SNP NFE2L2 ENST00000397062 human ensembl 69_37n -1 known silent c.1800 p.P600 0.999 NULL pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,superfamily_Sepin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC ENSG00000116044 211 1 0.47 161 44 21.46 - - - NGF 0 genome.wustl.edu 37 1 115829303 115829303 + Silent SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 115829303 115829303 A G SNP NGF ENST00000369512 human ensembl 69_37n -1 known silent c.114 p.T38 0.951 pirsf_Nerve_growth_factor-like,prints_Nerve_growth_factor_bsu_mml pirsf_Nerve_growth_factor-like,pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,prints_Nerve_growth_factor-rel,prints_Nerve_growth_factor_bsu_mml,prints_Nerve_growth_factor_bsu,pfscan_Nerve_growth_factor-rel - no_errors NGF HGNC ENSG00000134259 68 0 0.00 51 19 27.14 - - - NHS 0 genome.wustl.edu 37 X 17746842 17746842 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c X 17746842 17746842 C T SNP NHS ENST00000380060 human ensembl 69_37n +1 known silent c.4233 p.F1411 0.033 NULL NULL - no_errors NHS HGNC ENSG00000188158 234 1 0.43 154 41 21.03 - - - NID2 0 genome.wustl.edu 37 14 52481992 52481992 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 14 52481992 52481992 C T SNP NID2 ENST00000556572 human ensembl 69_37n -1 novel missense c.835 p.A279T 1.000 superfamily_Thyroglobulin_1 pfam_LDLR_classB_rpt,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Thyroglobulin_1,superfamily_Green_fluorescent_prot-like,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region NID2 HGNC ENSG00000087303 61 0 0.00 25 16 39.02 - - - NIN 0 genome.wustl.edu 37 14 51224180 51224180 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 14 51224180 51224180 T C SNP NIN ENST00000245441 human ensembl 69_37n -1 known missense c.3568 p.R1190G 0.689 NULL superfamily_tRNA-bd_arm,pfscan_EF_HAND_2 - no_errors NIN HGNC ENSG00000100503 275 0 0.00 218 56 20.44 - - - NIPAL1 0 genome.wustl.edu 37 4 48035028 48035028 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 48035028 48035028 C T SNP NIPAL1 ENST00000295461 human ensembl 69_37n +1 known missense c.389 p.A130V 0.829 pfam_Mg_trans_NIPA,pfam_DMT pfam_Mg_trans_NIPA,pfam_DMT - no_errors NIPAL1 HGNC ENSG00000163293 44 0 0.00 24 7 22.58 - - - NIPBL 0 genome.wustl.edu 37 5 36971044 36971044 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 36971044 36971044 C T SNP NIPBL ENST00000282516 human ensembl 69_37n +1 known missense c.677 p.P226L 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 129 0 0.00 165 29 14.95 - - - NLGN3 0 genome.wustl.edu 37 X 70389735 70389735 + Frame_Shift_Del DEL C C - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c X 70389735 70389735 C - DEL NLGN3 ENST00000358741 human ensembl 69_37n +1 known frame_shift_del c.2335 p.H781fs 0.347 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN3 HGNC ENSG00000196338 34 0 0.00 13 4 23.53 - - - NLGN4X 0 genome.wustl.edu 37 X 5821584 5821584 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c X 5821584 5821584 A G SNP NLGN4X ENST00000381093 human ensembl 69_37n -1 known missense c.1195 p.F399L 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC ENSG00000146938 65 0 0.00 42 22 34.38 - - - NLRP11 0 genome.wustl.edu 37 19 56307593 56307593 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 56307593 56307593 G A SNP NLRP11 ENST00000443188 human ensembl 69_37n -1 known missense c.2195 p.A732V 0.000 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP11 HGNC ENSG00000179873 203 0 0.00 209 78 27.18 - - - NOC3L 0 genome.wustl.edu 37 10 96117921 96117921 + Missense_Mutation SNP T T A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 96117921 96117921 T A SNP NOC3L ENST00000371350 human ensembl 69_37n -1 known missense c.269 p.D90V 1.000 pirsf_Nucleolar_cplx-assoc_3 pfam_CCAAT-binding_factor,pfam_NOC3p,superfamily_ARM-type_fold,pirsf_Nucleolar_cplx-assoc_3 - no_errors NOC3L HGNC ENSG00000173145 339 0 0.00 246 38 13.38 - - - NOL6 0 genome.wustl.edu 37 9 33469229 33469229 + Nonsense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 33469229 33469229 G A SNP NOL6 ENST00000297990 human ensembl 69_37n -1 known nonsense c.838 p.R280* 0.887 pfam_Nrap pfam_Nrap - no_errors NOL6 HGNC ENSG00000165271 107 0 0.00 51 15 22.73 - - - NOTCH2 0 genome.wustl.edu 37 1 120483317 120483317 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 120483317 120483317 A G SNP NOTCH2 ENST00000256646 human ensembl 69_37n -1 known missense c.3044 p.V1015A 0.649 pirsf_Notch,pfam_EGF-like_dom,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pirsf_Notch,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 114 0 0.00 66 8 10.81 - - - NOTCH4 0 genome.wustl.edu 37 6 32166263 32166263 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 32166263 32166263 G A SNP NOTCH4 ENST00000375023 human ensembl 69_37n -1 known missense c.4691 p.A1564V 0.312 pirsf_Notch pfam_EGF-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_4,prints_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 68 0 0.00 31 9 22.50 - - - NOTCH4 0 genome.wustl.edu 37 6 32189025 32189025 + Frame_Shift_Del DEL G G - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 32189025 32189025 G - DEL NOTCH4 ENST00000375023 human ensembl 69_37n -1 known frame_shift_del c.529 p.Q177fs 1.000 smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_Notch,pfscan_EG-like_dom pfam_EGF-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_4,prints_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 162 0 0.00 125 21 14.19 - - - NOV 0 genome.wustl.edu 37 8 120430411 120430411 + Frame_Shift_Del DEL C C - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 8 120430411 120430411 C - DEL NOV ENST00000259526 human ensembl 69_37n +1 known frame_shift_del c.424 p.R143fs 1.000 pfam_VWF_C,smart_VWF_C,pirsf_IGFBP_CNN,pfscan_VWF_C pfam_IGFBP-like,pfam_Cys_knot,pfam_VWF_C,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors NOV HGNC ENSG00000136999 79 0 0.00 25 46 63.01 - - - NOX3 0 genome.wustl.edu 37 6 155764536 155764536 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 155764536 155764536 C T SNP NOX3 ENST00000159060 human ensembl 69_37n -1 known silent c.357 p.A119 0.015 pfam_Fe3_Rdtase_TM_dom,prints_Cyt_b245_heavy_chain pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX3 HGNC ENSG00000074771 71 0 0.00 49 25 33.78 - - - NPFFR2 0 genome.wustl.edu 37 4 73012922 73012922 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 73012922 73012922 A G SNP NPFFR2 ENST00000308744 human ensembl 69_37n +1 known missense c.962 p.Y321C 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_NPFF_rcpt_2,prints_NPFF_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPFFR2 HGNC ENSG00000056291 212 0 0.00 210 46 17.97 - - - NPFFR2 0 genome.wustl.edu 37 4 73013327 73013327 + Frame_Shift_Del DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 73013327 73013327 A - DEL NPFFR2 ENST00000308744 human ensembl 69_37n +1 known frame_shift_del c.1367 p.R458fs 0.492 prints_NPFF_rcpt_2 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_NPFF_rcpt_2,prints_NPFF_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPFFR2 HGNC ENSG00000056291 174 0 0.00 163 35 17.68 - - - NPIPP1 0 genome.wustl.edu 37 16 15204314 15204314 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 16 15204314 15204314 G A SNP NPIPP1 ENST00000547107 human ensembl 69_37n -1 putative missense c.394 p.R132C 0.000 pfam_NPIP pfam_NPIP - no_errors NPIPP1 HGNC ENSG00000188599 172 0 0.00 173 42 19.53 - - - NPR2 0 genome.wustl.edu 37 9 35809217 35809217 + Silent SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 35809217 35809217 A G SNP NPR2 ENST00000342694 human ensembl 69_37n +1 known silent c.3051 p.L1017 0.999 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase - no_errors NPR2 HGNC ENSG00000159899 202 0 0.00 86 46 34.59 - - - NR4A2 0 genome.wustl.edu 37 2 157185029 157185029 + Frame_Shift_Del DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 157185029 157185029 T - DEL NR4A2 ENST00000539077 human ensembl 69_37n -1 known frame_shift_del c.914 p.N305fs 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_NURR_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors NR4A2 HGNC ENSG00000153234 57 0 0.00 27 16 36.36 - - - NRAP 0 genome.wustl.edu 37 10 115348832 115348832 + Frame_Shift_Del DEL C C - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 115348832 115348832 C - DEL NRAP ENST00000369358 human ensembl 69_37n -1 known frame_shift_del c.5119 p.A1707fs 0.001 NULL pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin - no_errors NRAP HGNC ENSG00000197893 75 0 0.00 46 7 12.96 - - - NSD1 0 genome.wustl.edu 37 5 176720848 176720848 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 176720848 176720848 C T SNP NSD1 ENST00000439151 human ensembl 69_37n +1 known missense c.6479 p.P2160L 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 149 0 0.00 105 33 23.91 - - - NTF3 0 genome.wustl.edu 37 12 5603725 5603725 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 5603725 5603725 G A SNP NTF3 ENST00000331010 human ensembl 69_37n +1 known silent c.345 p.P115 0.119 pirsf_Nerve_growth_factor-like pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pirsf_Nerve_growth_factor-like,pfscan_Nerve_growth_factor-rel,prints_Nerve_growth_factor-rel,prints_Neurotrophin-3 - no_errors NTF3 HGNC ENSG00000185652 85 0 0.00 70 12 14.29 - - - NUFIP2 0 genome.wustl.edu 37 17 27613244 27613244 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 27613244 27613244 C T SNP NUFIP2 ENST00000225388 human ensembl 69_37n -1 known missense c.1768 p.A590T 1.000 NULL NULL - no_errors NUFIP2 HGNC ENSG00000108256 115 0 0.00 89 21 19.09 - - - NUMB 0 genome.wustl.edu 37 14 73746055 73746055 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 14 73746055 73746055 G A SNP NUMB ENST00000355058 human ensembl 69_37n -1 known missense c.1174 p.R392C 1.000 pirsf_Numb/numb-like pfam_Numb_domain,pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pirsf_Numb/numb-like,pfscan_PTyr_interaction_dom - no_errors NUMB HGNC ENSG00000133961 57 0 0.00 31 7 18.42 - - - NUP107 0 genome.wustl.edu 37 12 69126366 69126366 + RNA DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 69126366 69126366 A - DEL NUP107 ENST00000401003 human ensembl 69_37n +1 putative rna NULL NULL 0.000 - - - no_errors NUP107 HGNC ENSG00000111581 29 0 0.00 13 11 45.83 - - - NUP62 0 genome.wustl.edu 37 19 50411867 50411867 + Nonsense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 50411867 50411867 G A SNP NUP62 ENST00000352066 human ensembl 69_37n -1 known nonsense c.1198 p.Q400* 1.000 pfam_Nucleoporin_NSP1_C pfam_Nucleoporin_NSP1_C - no_errors NUP62 HGNC ENSG00000213024 71 0 0.00 47 10 17.54 - - - NUP98 0 genome.wustl.edu 37 11 3723898 3723898 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 3723898 3723898 G A SNP NUP98 ENST00000324932 human ensembl 69_37n -1 known missense c.3307 p.R1103C 1.000 NULL pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59 - no_errors NUP98 HGNC ENSG00000110713 125 0 0.00 101 18 15.13 - - - OAT 0 genome.wustl.edu 37 10 126091634 126091634 + RNA DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 126091634 126091634 A - DEL OAT ENST00000471127 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors OAT HGNC ENSG00000065154 153 0 0.00 106 24 18.46 - - - OBSCN 0 genome.wustl.edu 37 1 228432211 228432211 + Silent SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 228432211 228432211 T C SNP OBSCN ENST00000422127 human ensembl 69_37n +1 known silent c.3420 p.D1140 0.992 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 128 0 0.00 138 26 15.85 - - - OBSCN 0 genome.wustl.edu 37 1 228476543 228476544 + Frame_Shift_Ins INS - - TG TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 228476543 228476544 - TG INS OBSCN ENST00000422127 human ensembl 69_37n +1 known frame_shift_ins c.10293_10294 p.G3434fs 0.000:0.996 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 58 0 0.00 36 4 10.00 - - - OBSL1 0 genome.wustl.edu 37 2 220421323 220421323 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 220421323 220421323 C T SNP OBSL1 ENST00000404537 human ensembl 69_37n -1 known missense c.4189 p.A1397T 0.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors OBSL1 HGNC ENSG00000124006 108 0 0.00 43 8 15.69 - - - OGFOD1 0 genome.wustl.edu 37 16 56501107 56501107 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 16 56501107 56501107 C T SNP OGFOD1 ENST00000566157 human ensembl 69_37n +1 known missense c.688 p.R230C 1.000 smart_Pro_4_hyd_alph pfam_Oxoglutarate/Fe-dep_Oase_C,smart_Pro_4_hyd_alph - no_errors OGFOD1 HGNC ENSG00000087263 218 0 0.00 210 62 22.71 - - - OLFM4 0 genome.wustl.edu 37 13 53624266 53624266 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 13 53624266 53624266 G A SNP OLFM4 ENST00000219022 human ensembl 69_37n +1 known missense c.893 p.R298K 0.250 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,superfamily_Quinoprot_gluc/sorb_DH,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM4 HGNC ENSG00000102837 256 0 0.00 195 54 21.60 - - - OLFML2B 0 genome.wustl.edu 37 1 161953687 161953687 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 161953687 161953687 G A SNP OLFML2B ENST00000294794 human ensembl 69_37n -1 known silent c.2031 p.F677 0.990 pfam_Olfac-like,superfamily_NA-bd_OB-fold-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,superfamily_NA-bd_OB-fold-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2B HGNC ENSG00000162745 164 0 0.00 123 60 32.79 - - - OLFML3 0 genome.wustl.edu 37 1 114523959 114523959 + Frame_Shift_Del DEL C C - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 114523959 114523959 C - DEL OLFML3 ENST00000320334 human ensembl 69_37n +1 known frame_shift_del c.789 p.Y266fs 1.000 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML3 HGNC ENSG00000116774 165 0 0.00 103 55 33.95 - - - OR10G8 0 genome.wustl.edu 37 11 123901043 123901043 + Missense_Mutation SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 123901043 123901043 G T SNP OR10G8 ENST00000431524 human ensembl 69_37n +1 known missense c.714 p.Q238H 0.951 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 OR10G8 HGNC ENSG00000234560 290 0 0.00 162 67 29.26 - - - OR14C36 0 genome.wustl.edu 37 1 248512383 248512384 + Frame_Shift_Ins INS - - T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 248512383 248512384 - T INS OR14C36 ENST00000317861 human ensembl 69_37n +1 known frame_shift_ins c.307_308 p.V106fs 0.000:0.004 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR14C36 HGNC ENSG00000177174 161 1 0.62 153 27 15.00 - - - OR1J1 0 genome.wustl.edu 37 9 125240101 125240101 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 125240101 125240101 G A SNP OR1J1 ENST00000259357 human ensembl 69_37n -1 known silent c.105 p.Y35 1.000 prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR1J1 HGNC ENSG00000136834 226 0 0.00 167 48 22.33 - - - OR3A2 0 genome.wustl.edu 37 17 3181584 3181584 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 3181584 3181584 C T SNP OR3A2 ENST00000408891 human ensembl 69_37n -1 known missense c.646 p.A216T 0.250 pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR3A2 HGNC ENSG00000221882 259 0 0.00 155 107 40.68 - - - OR4K5 0 genome.wustl.edu 37 14 20389601 20389601 + Frame_Shift_Del DEL C C - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 14 20389601 20389601 C - DEL OR4K5 ENST00000315915 human ensembl 69_37n +1 known frame_shift_del c.836 p.V281fs 0.470 pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR4K5 HGNC ENSG00000176281 593 0 0.00 550 64 10.39 - - - OR4N4 0 genome.wustl.edu 37 15 22383102 22383103 + Frame_Shift_Ins INS - - T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 15 22383102 22383103 - T INS OR4N4 ENST00000328795 human ensembl 69_37n +1 known frame_shift_ins c.630_631 p.L211fs 0.017:0.196 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 OR4N4 HGNC ENSG00000183706 165 0 0.00 117 33 22.00 - - - OR51A2 0 genome.wustl.edu 37 11 4976651 4976651 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 4976651 4976651 G A SNP OR51A2 ENST00000380371 human ensembl 69_37n -1 known missense c.293 p.A98V 0.962 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR51A2 HGNC ENSG00000205496 590 1 0.17 604 151 19.97 - - - OR51E2 0 genome.wustl.edu 37 11 4703006 4703006 + Missense_Mutation SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 4703006 4703006 C A SNP OR51E2 ENST00000396950 human ensembl 69_37n -1 known missense c.936 p.K312N 0.908 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR51E2 HGNC ENSG00000167332 203 0 0.00 184 41 18.22 - - - OR51G2 0 genome.wustl.edu 37 11 4936640 4936640 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 4936640 4936640 G A SNP OR51G2 ENST00000322013 human ensembl 69_37n -1 known missense c.254 p.T85I 0.924 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR51G2 HGNC ENSG00000176893 108 0 0.00 91 22 19.47 - - - OR5AU1 0 genome.wustl.edu 37 14 21623944 21623944 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 14 21623944 21623944 C T SNP OR5AU1 ENST00000304418 human ensembl 69_37n -1 known missense c.241 p.V81M 0.038 prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5AU1 HGNC ENSG00000169327 138 0 0.00 117 23 16.43 - - - OR5C1 0 genome.wustl.edu 37 9 125551761 125551761 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 125551761 125551761 G A SNP OR5C1 ENST00000373680 human ensembl 69_37n +1 known missense c.550 p.D184N 0.623 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 OR5C1 HGNC ENSG00000148215 118 0 0.00 122 19 13.48 - - - OR5D16 0 genome.wustl.edu 37 11 55606403 55606403 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 55606403 55606403 C T SNP OR5D16 ENST00000378396 human ensembl 69_37n +1 known missense c.176 p.T59I 0.952 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR5D16 HGNC ENSG00000205029 534 0 0.00 475 99 17.22 - - - OR5J2 0 genome.wustl.edu 37 11 55944371 55944372 + Frame_Shift_Ins INS - - T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 55944371 55944372 - T INS OR5J2 ENST00000312298 human ensembl 69_37n +1 known frame_shift_ins c.278_279 p.S95fs 0.003:0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt - no_errors OR5J2 HGNC ENSG00000174957 210 0 0.00 204 45 18.07 - - - OR5M1 0 genome.wustl.edu 37 11 56380045 56380045 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 56380045 56380045 T C SNP OR5M1 ENST00000526538 human ensembl 69_37n -1 known missense c.934 p.K312E 0.005 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR5M1 HGNC ENSG00000255012 265 0 0.00 172 104 37.68 - - - OR6C1 0 genome.wustl.edu 37 12 55714605 55714605 + Silent SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 55714605 55714605 C A SNP OR6C1 ENST00000379668 human ensembl 69_37n +1 known silent c.222 p.V74 0.003 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 OR6C1 HGNC ENSG00000205330 123 0 0.00 111 27 19.57 - - - OR6F1 0 genome.wustl.edu 37 1 247875544 247875544 + Frame_Shift_Del DEL G G - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 247875544 247875544 G - DEL OR6F1 ENST00000302084 human ensembl 69_37n -1 known frame_shift_del c.514 p.R172fs 0.001 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 OR6F1 HGNC ENSG00000169214 124 0 0.00 124 19 13.10 - - - ORC2 0 genome.wustl.edu 37 2 201785791 201785791 + Nonsense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 201785791 201785791 G A SNP ORC2 ENST00000234296 human ensembl 69_37n -1 known nonsense c.1219 p.Q407* 1.000 pfam_ORC2 pfam_ORC2 - no_errors ORC2 HGNC ENSG00000115942 36 0 0.00 37 12 24.49 - - - OS9 0 genome.wustl.edu 37 12 58089792 58089792 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 58089792 58089792 G A SNP OS9 ENST00000315970 human ensembl 69_37n +1 known missense c.451 p.A151T 0.856 pfam_PRKCSH pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom - no_errors OS9 HGNC ENSG00000135506 197 0 0.00 169 92 34.85 - - - OTOGL 0 genome.wustl.edu 37 12 80655796 80655796 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 80655796 80655796 C T SNP OTOGL ENST00000458043 human ensembl 69_37n +1 known missense c.1910 p.A637V 1.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors OTOGL HGNC ENSG00000165899 229 1 0.43 210 68 24.46 - - - OXR1 0 genome.wustl.edu 37 8 107754450 107754451 + Frame_Shift_Ins INS - - T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 8 107754450 107754451 - T INS OXR1 ENST00000442977 human ensembl 69_37n +1 known frame_shift_ins c.2320_2321 p.G776fs 1.000:1.000 pfam_TLDc,smart_TLDc pfam_TLDc,pfam_Peptidoglycan-bd_lysin,pfam_GRAM,smart_Peptidoglycan-bd_Lysin_subgr,smart_TLDc - no_errors OXR1 HGNC ENSG00000164830 76 0 0.00 45 70 60.87 - - - P4HA1 0 genome.wustl.edu 37 10 74828607 74828607 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 74828607 74828607 G A SNP P4HA1 ENST00000263556 human ensembl 69_37n -1 known missense c.460 p.P154S 1.000 pfam_Pro_4_hyd_alph_N pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors P4HA1 HGNC ENSG00000122884 177 0 0.00 138 38 21.47 - - - P4HA2 0 genome.wustl.edu 37 5 131543412 131543412 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 131543412 131543412 C T SNP P4HA2 ENST00000166534 human ensembl 69_37n -1 known missense c.1069 p.A357T 1.000 smart_Pro_4_hyd_alph pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors P4HA2 HGNC ENSG00000072682 43 0 0.00 31 8 20.51 - - - P4HA2 0 genome.wustl.edu 37 5 131543475 131543475 + Missense_Mutation SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 131543475 131543475 G T SNP P4HA2 ENST00000166534 human ensembl 69_37n -1 known missense c.1006 p.P336T 1.000 smart_Pro_4_hyd_alph pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors P4HA2 HGNC ENSG00000072682 58 0 0.00 51 10 16.39 - - - PABPC3 0 genome.wustl.edu 37 13 25671803 25671804 + In_Frame_Ins INS - - GCT TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 13 25671803 25671804 - GCT INS PABPC3 ENST00000281589 human ensembl 69_37n +1 known in_frame_ins c.1467_1468 p.493in_frame_insA 0.985:0.993 superfamily_PABP_HYD,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC3 HGNC ENSG00000151846 110 0 0.00 120 14 10.45 - - - PAPPA2 0 genome.wustl.edu 37 1 176564696 176564696 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 176564696 176564696 G A SNP PAPPA2 ENST00000367662 human ensembl 69_37n +1 known silent c.1956 p.V652 0.027 NULL pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 94 0 0.00 142 26 15.48 - - - PARD3 0 genome.wustl.edu 37 10 34739262 34739262 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 34739262 34739262 G A SNP PARD3 ENST00000374789 human ensembl 69_37n -1 known silent c.697 p.L233 1.000 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3 HGNC ENSG00000148498 120 0 0.00 96 23 19.33 - - - PARP2 0 genome.wustl.edu 37 14 20820718 20820718 + RNA DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 14 20820718 20820718 T - DEL PARP2 ENST00000555140 human ensembl 69_37n +1 putative rna NULL NULL 0.013 - - - no_errors PARP2 HGNC ENSG00000129484 21 0 0.00 23 8 25.81 - - - PARVG 0 genome.wustl.edu 37 22 44592032 44592032 + RNA SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 22 44592032 44592032 C T SNP PARVG ENST00000472551 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors PARVG HGNC ENSG00000138964 48 0 0.00 24 14 36.84 - - - PAX3 0 genome.wustl.edu 37 2 223158894 223158894 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 223158894 223158894 C T SNP PAX3 ENST00000392069 human ensembl 69_37n -1 known missense c.578 p.S193N 1.000 NULL pfam_Paired_dom,pfam_Pax7,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX3 HGNC ENSG00000135903 143 0 0.00 89 23 20.54 - - - PAX3 0 genome.wustl.edu 37 2 223160256 223160256 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 223160256 223160256 C T SNP PAX3 ENST00000392069 human ensembl 69_37n -1 known missense c.442 p.V148M 1.000 pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom pfam_Paired_dom,pfam_Pax7,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX3 HGNC ENSG00000135903 37 0 0.00 18 6 25.00 - - - PAX9 0 genome.wustl.edu 37 14 37145652 37145652 + Missense_Mutation SNP C C G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 14 37145652 37145652 C G SNP PAX9 ENST00000361487 human ensembl 69_37n +1 known missense c.1021 p.L341V 1.000 NULL pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX9 HGNC ENSG00000198807 71 0 0.00 67 23 25.56 - - - PBX1 0 genome.wustl.edu 37 1 164816108 164816108 + RNA DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 164816108 164816108 T - DEL PBX1 ENST00000465089 human ensembl 69_37n +1 known rna NULL NULL 0.525 - - - no_errors PBX1 HGNC ENSG00000185630 86 0 0.00 80 11 11.96 - - - PCDH10 0 genome.wustl.edu 37 4 134072187 134072187 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 134072187 134072187 C T SNP PCDH10 ENST00000264360 human ensembl 69_37n +1 known missense c.892 p.R298W 0.951 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 PCDH10 HGNC ENSG00000138650 47 0 0.00 29 9 23.68 - - - PCDH10 0 genome.wustl.edu 37 4 134073238 134073238 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 134073238 134073238 G A SNP PCDH10 ENST00000264360 human ensembl 69_37n +1 known missense c.1943 p.R648H 1.000 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 PCDH10 HGNC ENSG00000138650 18 0 0.00 13 10 43.48 - - - PCDH17 0 genome.wustl.edu 37 13 58299309 58299309 + Missense_Mutation SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 13 58299309 58299309 C A SNP PCDH17 ENST00000377918 human ensembl 69_37n +1 known missense c.3361 p.L1121I 0.747 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 218 0 0.00 175 33 15.87 - - - PCDHA11 0 genome.wustl.edu 37 5 140250430 140250430 + Missense_Mutation SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 140250430 140250430 C A SNP PCDHA11 ENST00000398640 human ensembl 69_37n +1 known missense c.1742 p.P581Q 0.004 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 33 0 0.00 8 4 33.33 - - - PCDHA11 0 genome.wustl.edu 37 5 140250672 140250672 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 140250672 140250672 G A SNP PCDHA11 ENST00000398640 human ensembl 69_37n +1 known missense c.1984 p.A662T 0.998 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 23 0 0.00 7 6 46.15 - - - PCDHA3 0 genome.wustl.edu 37 5 140181371 140181371 + Frame_Shift_Del DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 140181371 140181371 A - DEL PCDHA3 ENST00000522353 human ensembl 69_37n +1 known frame_shift_del c.589 p.N199fs 0.987 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 PCDHA3 HGNC ENSG00000255408 80 0 0.00 44 22 32.84 - - - PCDHA7 0 genome.wustl.edu 37 5 140215411 140215411 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 140215411 140215411 C T SNP PCDHA7 ENST00000525929 human ensembl 69_37n +1 known silent c.1443 p.D481 0.163 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 PCDHA7 HGNC ENSG00000204963 29 0 0.00 7 9 56.25 - - - PCDHGA10 0 genome.wustl.edu 37 5 140793453 140793453 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 140793453 140793453 C T SNP PCDHGA10 ENST00000398610 human ensembl 69_37n +1 known silent c.711 p.F237 0.038 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA10 HGNC ENSG00000253846 30 0 0.00 8 4 33.33 - - - PCDHGB6 0 genome.wustl.edu 37 5 140788732 140788732 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 140788732 140788732 G A SNP PCDHGB6 ENST00000520790 human ensembl 69_37n +1 known silent c.963 p.A321 0.080 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 PCDHGB6 HGNC ENSG00000253305 87 0 0.00 55 16 22.54 - - - PCDHGB6 0 genome.wustl.edu 37 5 140789346 140789346 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 140789346 140789346 G A SNP PCDHGB6 ENST00000520790 human ensembl 69_37n +1 known missense c.1577 p.R526H 0.999 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 PCDHGB6 HGNC ENSG00000253305 20 0 0.00 18 4 18.18 - - - PCF11 0 genome.wustl.edu 37 11 82880099 82880099 + Nonsense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 82880099 82880099 C T SNP PCF11 ENST00000298281 human ensembl 69_37n +1 known nonsense c.2722 p.R908* 0.980 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD - no_errors PCF11 HGNC ENSG00000165494 76 0 0.00 69 40 36.70 - - - PCNX 0 genome.wustl.edu 37 14 71568810 71568810 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 14 71568810 71568810 C T SNP PCNX ENST00000304743 human ensembl 69_37n +1 known missense c.5693 p.A1898V 1.000 pfam_Pecanex pfam_Pecanex - no_errors PCNX HGNC ENSG00000100731 222 1 0.45 135 36 21.05 - - - PCNXL2 0 genome.wustl.edu 37 1 233394715 233394715 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 233394715 233394715 C T SNP PCNXL2 ENST00000258229 human ensembl 69_37n -1 known missense c.893 p.R298Q 0.001 NULL pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like - no_errors PCNXL2 HGNC ENSG00000135749 96 0 0.00 75 31 29.25 - - - PCTP 0 genome.wustl.edu 37 17 53851231 53851231 + Missense_Mutation SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 53851231 53851231 G T SNP PCTP ENST00000268896 human ensembl 69_37n +1 known missense c.486 p.E162D 0.978 pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd - no_errors PCTP HGNC ENSG00000141179 34 0 0.00 23 6 20.69 - - - PDE11A 0 genome.wustl.edu 37 2 178936814 178936814 + Silent SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 178936814 178936814 A G SNP PDE11A ENST00000286063 human ensembl 69_37n -1 known silent c.351 p.S117 0.990 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE11A HGNC ENSG00000128655 74 0 0.00 81 10 10.99 - - - PDGFRB 0 genome.wustl.edu 37 5 149501507 149501507 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 149501507 149501507 G A SNP PDGFRB ENST00000261799 human ensembl 69_37n -1 known silent c.2280 p.D760 0.480 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,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 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,prints_Tyr_kinase_VEGFR_rcpt_N,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors PDGFRB HGNC ENSG00000113721 50 0 0.00 35 14 28.57 - - - PDLIM1 0 genome.wustl.edu 37 10 97028544 97028544 + Silent SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 97028544 97028544 A G SNP PDLIM1 ENST00000329399 human ensembl 69_37n -1 known silent c.324 p.S108 0.890 NULL pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM1 HGNC ENSG00000107438 124 0 0.00 69 15 17.86 - - - PDSS2 0 genome.wustl.edu 37 6 107595417 107595417 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 107595417 107595417 G A SNP PDSS2 ENST00000369037 human ensembl 69_37n -1 known missense c.446 p.A149V 1.000 pfam_Polyprenyl_synt,superfamily_Terpenoid_synth pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors PDSS2 HGNC ENSG00000164494 74 0 0.00 69 45 39.47 - - - PEAR1 0 genome.wustl.edu 37 1 156877506 156877507 + Frame_Shift_Ins INS - - C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 156877506 156877507 - C INS PEAR1 ENST00000292357 human ensembl 69_37n +1 known frame_shift_ins c.749_750 p.G253fs 1.000:1.000 smart_EGF-like,pfscan_EG-like_dom pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors PEAR1 HGNC ENSG00000187800 143 1 0.69 70 42 37.50 - - - PEX3 0 genome.wustl.edu 37 6 143789300 143789300 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 143789300 143789300 T C SNP PEX3 ENST00000367591 human ensembl 69_37n +1 known missense c.329 p.I110T 1.000 pfam_Peroxin-3 pfam_Peroxin-3 - no_errors PEX3 HGNC ENSG00000034693 63 0 0.00 51 34 40.00 - - - PF4V1 0 genome.wustl.edu 37 4 74719801 74719801 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 74719801 74719801 C T SNP PF4V1 ENST00000226524 human ensembl 69_37n +1 known silent c.277 p.L93 0.000 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXCL8/IL8,prints_Chemokine_CXC pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXCL8/IL8,prints_Chemokine_CXC - no_errors PF4V1 HGNC ENSG00000109272 56 0 0.00 47 10 17.54 - - - PFKP 0 genome.wustl.edu 37 10 3175478 3175478 + Nonsense_Mutation SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 3175478 3175478 G T SNP PFKP ENST00000433193 human ensembl 69_37n +1 known nonsense c.52 p.G18* 1.000 pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PFKP HGNC ENSG00000067057 96 0 0.00 34 14 29.17 - - - PGAM1P5 0 genome.wustl.edu 37 12 96059495 96059498 + RNA DEL GTTT GTTT - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 GTTT GTTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 96059495 96059498 GTTT - DEL PGAM1P5 ENST00000552554 human ensembl 69_37n +1 known rna NULL NULL 0.013:0.010:0.034:0.000 - - - no_errors PGAM1P5 HGNC ENSG00000257150 55 0 0.00 55 9 14.06 - - - PGAP1 0 genome.wustl.edu 37 2 197738284 197738284 + Missense_Mutation SNP A A T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 197738284 197738284 A T SNP PGAP1 ENST00000354764 human ensembl 69_37n -1 known missense c.1520 p.I507N 1.000 NULL pfam_PGAP1-like - no_errors PGAP1 HGNC ENSG00000197121 54 0 0.00 60 13 17.81 - - - PHF20L1 0 genome.wustl.edu 37 8 133826909 133826909 + Frame_Shift_Del DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 8 133826909 133826909 A - DEL PHF20L1 ENST00000315808 human ensembl 69_37n +1 known frame_shift_del c.958 p.N322fs 1.000 NULL pfam_DUF3776,smart_Tudor,smart_Tudor-like_plant - no_errors PHF20L1 HGNC ENSG00000129292 177 0 0.00 109 51 31.48 - - - PHTF2 0 genome.wustl.edu 37 7 77567268 77567268 + RNA DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 7 77567268 77567268 A - DEL PHTF2 ENST00000454592 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors PHTF2 HGNC ENSG00000006576 21 0 0.00 13 11 44.00 - - - PHYH 0 genome.wustl.edu 37 10 13325835 13325835 + Frame_Shift_Del DEL C C - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 13325835 13325835 C - DEL PHYH ENST00000263038 human ensembl 69_37n -1 known frame_shift_del c.683 p.G228fs 0.987 pfam_Phytyl_CoA_dOase pfam_Phytyl_CoA_dOase - no_errors PHYH HGNC ENSG00000107537 416 0 0.00 271 64 18.88 - - - PIAS2 0 genome.wustl.edu 37 18 44407973 44407973 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 18 44407973 44407973 G A SNP PIAS2 ENST00000585916 human ensembl 69_37n -1 known missense c.1457 p.A486V 1.000 NULL pfam_Znf_MIZ,smart_SAP_DNA-bd,pfscan_Znf_MIZ,pfscan_SAP_DNA-bd - no_errors PIAS2 HGNC ENSG00000078043 177 0 0.00 111 51 31.48 - - - PIK3C2A 0 genome.wustl.edu 37 11 17111376 17111376 + Frame_Shift_Del DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 17111376 17111376 A - DEL PIK3C2A ENST00000265970 human ensembl 69_37n -1 known frame_shift_del c.4970 p.F1657fs 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_C2_Ca-dep,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2A HGNC ENSG00000011405 299 0 0.00 330 57 14.58 - - - PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 58 0 0.00 36 25 40.98 - - - PILRB 0 genome.wustl.edu 37 7 99957093 99957093 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 7 99957093 99957093 C T SNP PILRB ENST00000448382 human ensembl 69_37n +1 known missense c.745 p.R249C 0.000 NULL NULL - no_errors PILRB HGNC ENSG00000121716 81 0 0.00 39 6 13.33 - - - PINK1 0 genome.wustl.edu 37 1 20970985 20970985 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 20970985 20970985 A G SNP PINK1 ENST00000321556 human ensembl 69_37n +1 known missense c.779 p.K260R 0.612 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors PINK1 HGNC ENSG00000158828 127 0 0.00 49 21 30.00 - - - PKD1L1 0 genome.wustl.edu 37 7 47955186 47955186 + Frame_Shift_Del DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 7 47955186 47955186 A - DEL PKD1L1 ENST00000289672 human ensembl 69_37n -1 known frame_shift_del c.1071 p.H358fs 0.006 NULL pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_LipOase_LH2,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 136 0 0.00 108 20 15.50 - - - PKD2 0 genome.wustl.edu 37 4 88996056 88996056 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 88996056 88996056 G A SNP PKD2 ENST00000237596 human ensembl 69_37n +1 known missense c.2615 p.R872Q 1.000 NULL pfam_PKD1_2_channel,pfam_Ion_trans_dom,pfscan_EF_HAND_2,prints_PKD_2,prints_PKD_1 - no_errors PKD2 HGNC ENSG00000118762 57 0 0.00 52 15 22.39 - - - PKHD1 0 genome.wustl.edu 37 6 51777166 51777167 + Frame_Shift_Ins INS - - A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 51777166 51777167 - A INS PKHD1 ENST00000371117 human ensembl 69_37n -1 known frame_shift_ins c.6330_6329 p.L2110fs 1.000:1.000 NULL pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 198 0 0.00 177 29 14.08 - - - PLA1A 0 genome.wustl.edu 37 3 119325652 119325652 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 119325652 119325652 C T SNP PLA1A ENST00000273371 human ensembl 69_37n +1 known silent c.105 p.C35 0.998 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase - no_errors PLA1A HGNC ENSG00000144837 275 0 0.00 270 64 19.16 - - - PLAUR 0 genome.wustl.edu 37 19 44153221 44153221 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 44153221 44153221 C T SNP PLAUR ENST00000340093 human ensembl 69_37n -1 known missense c.829 p.A277T 0.440 pfam_LY6_UPAR,smart_LY6_UPA_recep-like pfam_LY6_UPAR,smart_LY6_UPA_recep-like - no_errors PLAUR HGNC ENSG00000011422 74 0 0.00 62 13 17.33 - - - PLCB4 0 genome.wustl.edu 37 20 9401999 9401999 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 20 9401999 9401999 A G SNP PLCB4 ENST00000334005 human ensembl 69_37n +1 known missense c.2174 p.D725G 1.000 pirsf_PLC-beta,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB4 HGNC ENSG00000101333 82 0 0.00 76 15 16.48 - - - PLCE1 0 genome.wustl.edu 37 10 95791727 95791727 + Silent SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 95791727 95791727 T C SNP PLCE1 ENST00000371380 human ensembl 69_37n +1 known silent c.924 p.D308 1.000 superfamily_Ras_GEF_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 304 0 0.00 227 38 14.34 - - - PLCG2 0 genome.wustl.edu 37 16 81990425 81990425 + Silent SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 16 81990425 81990425 T C SNP PLCG2 ENST00000359376 human ensembl 69_37n +1 known silent c.3696 p.V1232 0.000 pirsf_PLC-gamma pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_Ca-dep,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pirsf_PLC-gamma,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCG2 HGNC ENSG00000197943 112 0 0.00 48 26 35.14 - - - PLCZ1 0 genome.wustl.edu 37 12 18841025 18841025 + Frame_Shift_Del DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 18841025 18841025 T - DEL PLCZ1 ENST00000266505 human ensembl 69_37n -1 known frame_shift_del c.1589 p.N530fs 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCZ1 HGNC ENSG00000139151 153 0 0.00 116 20 14.39 - - - PLEKHG1 0 genome.wustl.edu 37 6 151161918 151161918 + Silent SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 151161918 151161918 T C SNP PLEKHG1 ENST00000358517 human ensembl 69_37n +1 known silent c.4044 p.N1348 0.001 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG1 HGNC ENSG00000120278 223 0 0.00 163 38 18.91 - - - PLG 0 genome.wustl.edu 37 6 161152104 161152104 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 161152104 161152104 C T SNP PLG ENST00000308192 human ensembl 69_37n +1 known silent c.1278 p.C426 1.000 pirsf_Pept_S1A_plasmin,pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pirsf_Pept_S1A_plasmin,pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6 - no_errors PLG HGNC ENSG00000122194 216 0 0.00 182 31 14.55 - - - PLIN4 0 genome.wustl.edu 37 19 4510761 4510761 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 4510761 4510761 T C SNP PLIN4 ENST00000301286 human ensembl 69_37n -1 novel missense c.3169 p.R1057G 0.000 NULL pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom - no_errors PLIN4 HGNC ENSG00000167676 24 0 0.00 8 3 27.27 - - - PLK1S1 0 genome.wustl.edu 37 20 21143057 21143057 + RNA SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 20 21143057 21143057 C T SNP PLK1S1 ENST00000246027 human ensembl 69_37n +1 known rna NULL NULL 0.106 - - - no_errors PLK1S1 HGNC ENSG00000088970 111 0 0.00 81 18 18.18 - - - PLRG1 0 genome.wustl.edu 37 4 155465643 155465643 + Missense_Mutation SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 155465643 155465643 G T SNP PLRG1 ENST00000393905 human ensembl 69_37n -1 known missense c.548 p.P183H 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PLRG1 HGNC ENSG00000171566 130 0 0.00 110 26 19.12 - - - PM20D1 0 genome.wustl.edu 37 1 205814471 205814471 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 205814471 205814471 G A SNP PM20D1 ENST00000367136 human ensembl 69_37n -1 known silent c.471 p.D157 1.000 pfam_Peptidase_M20 pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer - no_errors PM20D1 HGNC ENSG00000162877 163 0 0.00 143 28 16.37 - - - PNKD 0 genome.wustl.edu 37 2 219209287 219209287 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 219209287 219209287 G A SNP PNKD ENST00000273077 human ensembl 69_37n +1 known silent c.978 p.K326 1.000 tigrfam_Hydroxyacylglutathione_Hdrlase pfam_Beta-lactamas-like,smart_Beta-lactamas-like,tigrfam_Hydroxyacylglutathione_Hdrlase - no_errors PNKD HGNC ENSG00000127838 20 0 0.00 6 5 45.45 - - - PODXL 0 genome.wustl.edu 37 7 131195813 131195813 + Frame_Shift_Del DEL C C - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 7 131195813 131195813 C - DEL PODXL ENST00000541194 human ensembl 69_37n -1 known frame_shift_del c.486 p.S164fs 0.000 pirsf_Podocalyxin-like_p1 pfam_CD34/Podocalyxin,pirsf_Podocalyxin-like_p1 - no_errors PODXL HGNC ENSG00000128567 135 0 0.00 59 35 36.46 - - - POLR1A 0 genome.wustl.edu 37 2 86310223 86310223 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 86310223 86310223 C T SNP POLR1A ENST00000263857 human ensembl 69_37n -1 known missense c.799 p.A267T 0.054 pfam_RNA_pol_Rpb1_1 pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N - no_errors POLR1A HGNC ENSG00000068654 56 0 0.00 42 13 23.64 - - - POLR3F 0 genome.wustl.edu 37 20 18453564 18453565 + RNA INS - - T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 20 18453564 18453565 - T INS POLR3F ENST00000475192 human ensembl 69_37n +1 known rna NULL NULL 0.000:0.000 - - - no_errors POLR3F HGNC ENSG00000132664 81 0 0.00 64 13 16.88 - - - POLR3F 0 genome.wustl.edu 37 20 18453607 18453607 + RNA SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 20 18453607 18453607 G A SNP POLR3F ENST00000475192 human ensembl 69_37n +1 known rna NULL NULL 0.041 - - - no_errors POLR3F HGNC ENSG00000132664 40 0 0.00 32 23 41.82 - - - POM121 0 genome.wustl.edu 37 7 72412440 72412440 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 7 72412440 72412440 G A SNP POM121 ENST00000434423 human ensembl 69_37n +1 known silent c.1908 p.P636 0.000 NULL NULL - no_errors POM121 HGNC ENSG00000196313 23 0 0.00 14 11 44.00 - - - POMGNT1 0 genome.wustl.edu 37 1 46654518 46654518 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 46654518 46654518 G A SNP POMGNT1 ENST00000371986 human ensembl 69_37n -1 known missense c.2120 p.A707V 1.000 NULL pfam_Glyco_trans_13 - no_errors POMGNT1 HGNC ENSG00000085998 135 0 0.00 32 34 51.52 - - - POSTN 0 genome.wustl.edu 37 13 38138662 38138663 + Frame_Shift_Ins INS - - T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 13 38138662 38138663 - T INS POSTN ENST00000379747 human ensembl 69_37n -1 known frame_shift_ins c.2467_2466 p.V822fs 0.956:0.969 NULL pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors POSTN HGNC ENSG00000133110 76 0 0.00 103 13 11.21 - - - POU5F1 0 genome.wustl.edu 37 6 31138068 31138068 + Frame_Shift_Del DEL G G - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 31138068 31138068 G - DEL POU5F1 ENST00000259915 human ensembl 69_37n -1 known frame_shift_del c.330 p.S111fs 0.991 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU - no_errors POU5F1 HGNC ENSG00000204531 67 0 0.00 62 8 11.11 - - - PPIP5K2 0 genome.wustl.edu 37 5 102494154 102494156 + Splice_Site DEL AGG AGG - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 102494154 102494156 AGG - DEL PPIP5K2 ENST00000358359 human ensembl 69_37n +1 known splice_site_del c.1616-2_1616-1 e15-1 1.000:1.000:1.000 - - - no_errors PPIP5K2 HGNC ENSG00000145725 180 0 0.00 91 55 36.42 - - - PPP1R12A 0 genome.wustl.edu 37 12 80214932 80214932 + Frame_Shift_Del DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 80214932 80214932 T - DEL PPP1R12A ENST00000261207 human ensembl 69_37n -1 known frame_shift_del c.882 p.K294fs 0.998 pirsf_Pase-1_reg_su_12A/B/C_euk pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12A HGNC ENSG00000058272 186 0 0.00 143 32 18.29 - - - PPP1R12C 0 genome.wustl.edu 37 19 55607462 55607462 + Frame_Shift_Del DEL C C - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 55607462 55607462 C - DEL PPP1R12C ENST00000263433 human ensembl 69_37n -1 known frame_shift_del c.1110 p.I373fs 0.002 pirsf_Pase-1_reg_su_12A/B/C_euk pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12C HGNC ENSG00000125503 69 0 0.00 34 6 14.63 - - - PPP1R17 0 genome.wustl.edu 37 7 31735179 31735179 + Frame_Shift_Del DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 7 31735179 31735179 A - DEL PPP1R17 ENST00000342032 human ensembl 69_37n +1 known frame_shift_del c.179 p.K62fs 0.999 NULL NULL - no_errors PPP1R17 HGNC ENSG00000106341 434 2 0.46 346 70 16.75 - - - PPP1R21 0 genome.wustl.edu 37 2 48692641 48692641 + Nonsense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 48692641 48692641 C T SNP PPP1R21 ENST00000294952 human ensembl 69_37n +1 known nonsense c.757 p.R253* 1.000 NULL pfam_KLRAQ/TTKRSYEDQ_C,pfam_Unchr_KLRAQ/TTKRSYEDQ_N,superfamily_Ferritin/RR-like - no_errors PPP1R21 HGNC ENSG00000162869 163 0 0.00 138 29 17.37 - - - PPP1R3B 0 genome.wustl.edu 37 8 8998374 8998374 + Missense_Mutation SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 8 8998374 8998374 C A SNP PPP1R3B ENST00000310455 human ensembl 69_37n -1 known missense c.788 p.R263L 1.000 pirsf_Pase-1_Glycogen_target-su_met pfam_CBM_21,pirsf_Pase-1_Glycogen_target-su_met,pfscan_CBM_21 - no_errors PPP1R3B HGNC ENSG00000173281 83 0 0.00 70 24 25.26 - - - PRAMEF2 0 genome.wustl.edu 37 1 12918987 12918987 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 12918987 12918987 G A SNP PRAMEF2 ENST00000240189 human ensembl 69_37n +1 known silent c.123 p.R41 0.118 NULL NULL - no_errors PRAMEF2 HGNC ENSG00000120952 352 0 0.00 258 54 17.31 - - - PRDM11 0 genome.wustl.edu 37 11 45246195 45246195 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 45246195 45246195 C T SNP PRDM11 ENST00000263765 human ensembl 69_37n +1 known silent c.1272 p.A424 0.778 NULL pfscan_SET_dom - no_errors PRDM11 HGNC ENSG00000019485 352 0 0.00 195 130 40.00 - - - PRDM13 0 genome.wustl.edu 37 6 100060928 100060928 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 100060928 100060928 C T SNP PRDM13 ENST00000369214 human ensembl 69_37n +1 known silent c.447 p.C149 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM13 HGNC ENSG00000112238 17 0 0.00 6 5 45.45 - - - PRELP 0 genome.wustl.edu 37 1 203455873 203455873 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 203455873 203455873 C T SNP PRELP ENST00000343110 human ensembl 69_37n +1 known missense c.1013 p.A338V 0.142 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors PRELP HGNC ENSG00000188783 86 0 0.00 82 18 18.00 - - - PREX1 0 genome.wustl.edu 37 20 47305234 47305234 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 20 47305234 47305234 C T SNP PREX1 ENST00000371941 human ensembl 69_37n -1 known missense c.1295 p.R432Q 1.000 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX1 HGNC ENSG00000124126 83 0 0.00 50 12 19.35 - - - PRG4 0 genome.wustl.edu 37 1 186276040 186276040 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 186276040 186276040 G A SNP PRG4 ENST00000445192 human ensembl 69_37n +1 known missense c.1189 p.A397T 0.000 NULL pfam_Somatomedin_B_dom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom - no_errors PRG4 HGNC ENSG00000116690 33 0 0.00 46 9 16.36 - - - PRHOXNB 0 genome.wustl.edu 37 13 28562744 28562744 + Missense_Mutation SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 13 28562744 28562744 G T SNP PRHOXNB ENST00000332715 human ensembl 69_37n -1 known missense c.31 p.L11I 0.965 pfam_OHCU_decarboxylase,tigrfam_OHCU_decarboxylase-1 pfam_OHCU_decarboxylase,tigrfam_OHCU_decarboxylase-1 - no_errors PRHOXNB HGNC ENSG00000183463 49 0 0.00 21 14 40.00 - - - PRKAR2B 0 genome.wustl.edu 37 7 106786880 106786880 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 7 106786880 106786880 A G SNP PRKAR2B ENST00000265717 human ensembl 69_37n +1 known missense c.715 p.T239A 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin - no_errors PRKAR2B HGNC ENSG00000005249 47 0 0.00 62 12 16.22 - - - PRKCE 0 genome.wustl.edu 37 2 46237550 46237551 + Frame_Shift_Ins INS - - A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 46237550 46237551 - A INS PRKCE ENST00000306156 human ensembl 69_37n +1 known frame_shift_ins c.1331_1332 p.L445fs 1.000:1.000 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,pirsf_Prot_kin_PKC_delta,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors PRKCE HGNC ENSG00000171132 223 0 0.00 249 37 12.94 - - - PRKCE 0 genome.wustl.edu 37 2 46313350 46313350 + Missense_Mutation SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 46313350 46313350 C A SNP PRKCE ENST00000306156 human ensembl 69_37n +1 known missense c.1441 p.R481S 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,pirsf_Prot_kin_PKC_delta,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors PRKCE HGNC ENSG00000171132 480 0 0.00 410 87 17.51 - - - PROM1 0 genome.wustl.edu 37 4 15995680 15995680 + Frame_Shift_Del DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 15995680 15995680 T - DEL PROM1 ENST00000447510 human ensembl 69_37n -1 known frame_shift_del c.1697 p.N566fs 0.415 pfam_Prominin pfam_Prominin - no_errors PROM1 HGNC ENSG00000007062 123 0 0.00 65 61 48.41 - - - PRR3 0 genome.wustl.edu 37 6 30530350 30530350 + RNA SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 30530350 30530350 G A SNP PRR3 ENST00000481741 human ensembl 69_37n +1 known rna NULL NULL 0.977 - - - no_errors PRR3 HGNC ENSG00000204576 71 0 0.00 69 11 13.75 - - - PRRG1 0 genome.wustl.edu 37 X 37265483 37265483 + RNA SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c X 37265483 37265483 G A SNP PRRG1 ENST00000491253 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors PRRG1 HGNC ENSG00000130962 130 0 0.00 79 23 22.55 - - - PRRG1 0 genome.wustl.edu 37 X 37312611 37312611 + Frame_Shift_Del DEL C C - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c X 37312611 37312611 C - DEL PRRG1 ENST00000378628 human ensembl 69_37n +1 known frame_shift_del c.394 p.P134fs 0.109 NULL pfam_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain - no_errors PRRG1 HGNC ENSG00000130962 207 1 0.48 165 58 25.66 - - - PRRX1 0 genome.wustl.edu 37 1 170705330 170705330 + RNA DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 170705330 170705330 A - DEL PRRX1 ENST00000485529 human ensembl 69_37n +1 putative rna NULL NULL 0.995 - - - no_errors PRRX1 HGNC ENSG00000116132 202 0 0.00 212 41 16.08 - - - PRSS21 0 genome.wustl.edu 37 16 2871056 2871056 + Missense_Mutation SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 16 2871056 2871056 C A SNP PRSS21 ENST00000574265 human ensembl 69_37n +1 novel missense c.476 p.S159Y 0.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PRSS21 HGNC ENSG00000007038 225 0 0.00 115 21 15.44 - - - PRSS8 0 genome.wustl.edu 37 16 31144006 31144007 + Frame_Shift_Ins INS - - G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 16 31144006 31144007 - G INS PRSS8 ENST00000317508 human ensembl 69_37n -1 known frame_shift_ins c.535_534 p.S178fs 0.792:0.155 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6 - no_errors PRSS8 HGNC ENSG00000052344 108 0 0.00 68 12 15.00 - - - PSAPL1 0 genome.wustl.edu 37 4 7435852 7435852 + Frame_Shift_Del DEL C C - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 7435852 7435852 C - DEL PSAPL1 ENST00000319098 human ensembl 69_37n -1 known frame_shift_del c.755 p.G252fs 0.526 pirsf_Saposin_chordata,superfamily_Saposin-like,smart_SaposinB,pfscan_SaposinB pirsf_Saposin_chordata,pfam_SapA,pfam_SapB_1,pfam_SapB_2,superfamily_Saposin-like,smart_SapA,smart_SaposinB,pfscan_SapA,pfscan_SaposinB,prints_Saposin - no_errors PSAPL1 HGNC ENSG00000178597 45 0 0.00 30 9 23.08 - - - PSG8 0 genome.wustl.edu 37 19 43258550 43258550 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 43258550 43258550 G A SNP PSG8 ENST00000306511 human ensembl 69_37n -1 known missense c.1178 p.A393V 0.000 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG8 HGNC ENSG00000124467 537 0 0.00 406 172 29.76 - - - PSMD5 0 genome.wustl.edu 37 9 123589008 123589008 + RNA SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 123589008 123589008 G A SNP PSMD5 ENST00000496688 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors PSMD5 HGNC ENSG00000095261 120 0 0.00 117 17 12.59 - - - PTCD3 0 genome.wustl.edu 37 2 86358229 86358232 + Frame_Shift_Del DEL AGTA AGTA - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 AGTA AGTA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 86358229 86358232 AGTA - DEL PTCD3 ENST00000254630 human ensembl 69_37n +1 known frame_shift_del c.1266 p.C423fs 0.968 NULL NULL - no_errors PTCD3 HGNC ENSG00000132300 68 0 0.00 69 13 15.85 - - - PTCH1 0 genome.wustl.edu 37 9 98220458 98220458 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 98220458 98220458 G A SNP PTCH1 ENST00000331920 human ensembl 69_37n -1 known missense c.3005 p.T1002M 0.994 pfam_Patched,tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 48 0 0.00 27 17 38.64 - - - PTGS1 0 genome.wustl.edu 37 9 125143664 125143664 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 125143664 125143664 C T SNP PTGS1 ENST00000362012 human ensembl 69_37n +1 known missense c.511 p.P171S 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors PTGS1 HGNC ENSG00000095303 49 0 0.00 21 6 22.22 - - - PTH2R 0 genome.wustl.edu 37 2 209308166 209308166 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 209308166 209308166 C T SNP PTH2R ENST00000272847 human ensembl 69_37n +1 known silent c.603 p.V201 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors PTH2R HGNC ENSG00000144407 170 0 0.00 152 39 20.42 - - - PTOV1 0 genome.wustl.edu 37 19 50360301 50360303 + In_Frame_Del DEL AAG AAG - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 50360301 50360303 AAG - DEL PTOV1 ENST00000391842 human ensembl 69_37n +1 known in_frame_del c.628_630 p.K212in_frame_del 1.000:1.000:1.000 pfam_Mediator_Med25 pfam_Mediator_Med25 - no_errors PTOV1 HGNC ENSG00000104960 108 0 0.00 46 10 17.86 - - - PTPN11 0 genome.wustl.edu 37 12 112915489 112915489 + Silent SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 112915489 112915489 T C SNP PTPN11 ENST00000351677 human ensembl 69_37n +1 known silent c.888 p.D296 0.996 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_SH2,smart_SH2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_SH2 - no_errors PTPN11 HGNC ENSG00000179295 140 0 0.00 152 27 15.08 - - - PTPN23 0 genome.wustl.edu 37 3 47450544 47450544 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 47450544 47450544 C T SNP PTPN23 ENST00000265562 human ensembl 69_37n +1 known missense c.1609 p.R537W 0.998 NULL pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_BRO1_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN23 HGNC ENSG00000076201 72 0 0.00 12 7 36.84 - - - PTPN9 0 genome.wustl.edu 37 15 75798271 75798271 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 15 75798271 75798271 T C SNP PTPN9 ENST00000306726 human ensembl 69_37n -1 known missense c.713 p.Y238C 0.941 superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_CRAL-TRIO_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_CRAL-bd_toc_tran - no_errors PTPN9 HGNC ENSG00000169410 117 0 0.00 50 9 15.25 - - - PTPRF 0 genome.wustl.edu 37 1 44069291 44069291 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 44069291 44069291 G A SNP PTPRF ENST00000359947 human ensembl 69_37n +1 known missense c.2468 p.R823Q 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRF HGNC ENSG00000142949 53 0 0.00 20 10 33.33 - - - PTPRG 0 genome.wustl.edu 37 3 61989117 61989118 + Frame_Shift_Ins INS - - A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 61989117 61989118 - A INS PTPRG ENST00000474889 human ensembl 69_37n +1 known frame_shift_ins c.465_466 p.N155fs 1.000:1.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRG HGNC ENSG00000144724 146 0 0.00 40 40 50.00 - - - PTPRZ1 0 genome.wustl.edu 37 7 121608162 121608162 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 7 121608162 121608162 C T SNP PTPRZ1 ENST00000393386 human ensembl 69_37n +1 known silent c.282 p.F94 1.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a - no_errors PTPRZ1 HGNC ENSG00000106278 148 0 0.00 145 59 28.92 - - - PVRL1 0 genome.wustl.edu 37 11 119535816 119535816 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 119535816 119535816 C T SNP PVRL1 ENST00000264025 human ensembl 69_37n -1 known missense c.1195 p.G399S 1.000 NULL pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors PVRL1 HGNC ENSG00000110400 62 0 0.00 9 26 74.29 - - - PXDN 0 genome.wustl.edu 37 2 1647230 1647230 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 1647230 1647230 C T SNP PXDN ENST00000252804 human ensembl 69_37n -1 known missense c.3862 p.V1288M 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like - no_errors PXDN HGNC ENSG00000130508 72 0 0.00 36 15 29.41 - - - PXDN 0 genome.wustl.edu 37 2 1652984 1652984 + Frame_Shift_Del DEL G G - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 1652984 1652984 G - DEL PXDN ENST00000252804 human ensembl 69_37n -1 known frame_shift_del c.2568 p.C857fs 0.996 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like - no_errors PXDN HGNC ENSG00000130508 25 0 0.00 7 6 46.15 - - - PYCR2 0 genome.wustl.edu 37 1 226109562 226109562 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 226109562 226109562 G A SNP PYCR2 ENST00000343818 human ensembl 69_37n -1 known missense c.536 p.A179V 1.000 superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase pfam_NADP_OxRdtase_F420,superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase - no_errors PYCR2 HGNC ENSG00000143811 24 0 0.00 12 10 45.45 - - - PZP 0 genome.wustl.edu 37 12 9321278 9321278 + RNA DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 9321278 9321278 A - DEL PZP ENST00000546116 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors PZP HGNC ENSG00000126838 30 0 0.00 27 9 25.00 - - - QKI 0 genome.wustl.edu 37 6 163899920 163899920 + Frame_Shift_Del DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 163899920 163899920 A - DEL QKI ENST00000361752 human ensembl 69_37n +1 known frame_shift_del c.394 p.K134fs 1.000 smart_KH_dom pfam_KH_dom_type_1,smart_KH_dom - no_errors QKI HGNC ENSG00000112531 240 2 0.82 148 80 34.48 - - - QKI 0 genome.wustl.edu 37 6 163984583 163984583 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 163984583 163984583 A G SNP QKI ENST00000361752 human ensembl 69_37n +1 known missense c.766 p.R256G 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom - no_errors QKI HGNC ENSG00000112531 141 0 0.00 108 53 32.92 - - - R3HDM1 0 genome.wustl.edu 37 2 136389293 136389293 + Nonsense_Mutation SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 136389293 136389293 G T SNP R3HDM1 ENST00000456040 human ensembl 69_37n +1 novel nonsense c.451 p.E151* 1.000 smart_R3H_ss-bd,pfscan_R3H_ss-bd pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - pseudogene:no_stop_codon:bad_bp_length_for_coding_region R3HDM1 HGNC ENSG00000048991 101 0 0.00 75 34 31.19 - - - RAB11FIP1 0 genome.wustl.edu 37 8 37729658 37729660 + In_Frame_Del DEL GGA GGA - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 GGA GGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 8 37729658 37729660 GGA - DEL RAB11FIP1 ENST00000330843 human ensembl 69_37n -1 known in_frame_del c.2662_2660 p.L887in_frame_del 0.000:0.000:0.000 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors RAB11FIP1 HGNC ENSG00000156675 81 0 0.00 57 32 34.04 - - - RAB24 0 genome.wustl.edu 37 5 176729805 176729805 + Missense_Mutation SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 176729805 176729805 C A SNP RAB24 ENST00000303251 human ensembl 69_37n -1 known missense c.213 p.E71D 0.999 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB24 HGNC ENSG00000169228 104 0 0.00 44 5 10.20 - - - RAB3IP 0 genome.wustl.edu 37 12 70206762 70206762 + Frame_Shift_Del DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 70206762 70206762 T - DEL RAB3IP ENST00000550536 human ensembl 69_37n +1 known frame_shift_del c.1297 p.F434fs 1.000 NULL pfam_Sec2p - no_errors RAB3IP HGNC ENSG00000127328 204 0 0.00 125 28 18.30 - - - RAD51AP2 0 genome.wustl.edu 37 2 17698043 17698043 + Missense_Mutation SNP A A T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 17698043 17698043 A T SNP RAD51AP2 ENST00000399080 human ensembl 69_37n -1 known missense c.1640 p.I547N 0.910 NULL NULL - no_errors RAD51AP2 HGNC ENSG00000214842 72 0 0.00 46 22 32.35 - - - RAD51B 0 genome.wustl.edu 37 14 68353916 68353916 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 14 68353916 68353916 A G SNP RAD51B ENST00000487270 human ensembl 69_37n +1 known missense c.751 p.I251V 1.000 pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_helicase_DnaB-like_C,pfam_DNA_recomb/repair_RecA,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd pfam_DNA_recomb/repair_Rad51_C,pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,pfam_DNA_recomb/repair_RecA,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd - no_errors RAD51B HGNC ENSG00000182185 121 0 0.00 74 24 24.49 - - - RALA 0 genome.wustl.edu 37 7 39730108 39730108 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 7 39730108 39730108 A G SNP RALA ENST00000005257 human ensembl 69_37n +1 known missense c.242 p.N81S 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RALA HGNC ENSG00000006451 93 0 0.00 55 54 49.54 - - - RALGAPB 0 genome.wustl.edu 37 20 37146233 37146233 + Frame_Shift_Del DEL C C - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 20 37146233 37146233 C - DEL RALGAPB ENST00000262879 human ensembl 69_37n +1 known frame_shift_del c.1136 p.P381fs 1.000 NULL superfamily_ARM-type_fold,pfscan_Rap_GAP - no_errors RALGAPB HGNC ENSG00000170471 313 0 0.00 192 73 27.14 - - - RALGAPB 0 genome.wustl.edu 37 20 37150217 37150217 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 20 37150217 37150217 A G SNP RALGAPB ENST00000262879 human ensembl 69_37n +1 known missense c.1495 p.M499V 1.000 NULL superfamily_ARM-type_fold,pfscan_Rap_GAP - no_errors RALGAPB HGNC ENSG00000170471 315 0 0.00 262 62 19.08 - - - RANBP2 0 genome.wustl.edu 37 2 109384566 109384566 + Frame_Shift_Del DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 109384566 109384566 T - DEL RANBP2 ENST00000283195 human ensembl 69_37n +1 known frame_shift_del c.7571 p.F2525fs 1.000 NULL pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR-1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 743 0 0.00 656 144 17.84 - - - RAP1GAP 0 genome.wustl.edu 37 1 21926032 21926032 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 21926032 21926032 G A SNP RAP1GAP ENST00000290101 human ensembl 69_37n -1 known silent c.1923 p.S641 1.000 NULL pfam_Rap_GAP,pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_Rap_GAP - no_errors RAP1GAP HGNC ENSG00000076864 40 0 0.00 17 5 22.73 - - - RASAL1 0 genome.wustl.edu 37 12 113545943 113545943 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 113545943 113545943 G A SNP RASAL1 ENST00000546530 human ensembl 69_37n -1 known missense c.1462 p.R488W 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_RasGAP,pfam_C2_Ca-dep,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP - no_errors RASAL1 HGNC ENSG00000111344 31 0 0.00 11 5 31.25 - - - RASSF5 0 genome.wustl.edu 37 1 206758045 206758045 + RNA SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 206758045 206758045 C T SNP RASSF5 ENST00000481486 human ensembl 69_37n +1 putative rna NULL NULL 0.000 - - - no_errors RASSF5 HGNC ENSG00000136653 58 0 0.00 78 10 11.36 - - - RAX 0 genome.wustl.edu 37 18 56939731 56939731 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 18 56939731 56939731 C T SNP RAX ENST00000334889 human ensembl 69_37n -1 known silent c.405 p.K135 0.998 superfamily_Homeodomain-like,pfscan_Homeodomain pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain - no_errors RAX HGNC ENSG00000134438 55 0 0.00 12 4 25.00 - - - RBBP6 0 genome.wustl.edu 37 16 24578810 24578810 + Nonsense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 16 24578810 24578810 C T SNP RBBP6 ENST00000319715 human ensembl 69_37n +1 known nonsense c.1936 p.R646* 0.994 NULL pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC - no_errors RBBP6 HGNC ENSG00000122257 256 0 0.00 154 99 38.98 - - - RBFOX2 0 genome.wustl.edu 37 22 36157249 36157249 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 22 36157249 36157249 T C SNP RBFOX2 ENST00000438146 human ensembl 69_37n -1 known missense c.964 p.S322G 1.000 pirsf_RNA-bd_Fox-1 pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom - no_errors RBFOX2 HGNC ENSG00000100320 107 0 0.00 71 16 18.39 - - - RBM26 0 genome.wustl.edu 37 13 79940836 79940836 + Frame_Shift_Del DEL G G - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 13 79940836 79940836 G - DEL RBM26 ENST00000327303 human ensembl 69_37n -1 known frame_shift_del c.1067 p.P356fs 1.000 NULL pfam_PWI,superfamily_PWI,smart_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM26 HGNC ENSG00000139746 35 0 0.00 47 12 19.05 - - - RBM33 0 genome.wustl.edu 37 7 155531074 155531074 + Missense_Mutation SNP A A C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 7 155531074 155531074 A C SNP RBM33 ENST00000401878 human ensembl 69_37n +1 known missense c.1714 p.T572P 0.058 NULL smart_RRM_dom - no_errors RBM33 HGNC ENSG00000184863 150 0 0.00 123 32 20.38 - - - RBMS3 0 genome.wustl.edu 37 3 29910435 29910435 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 29910435 29910435 C T SNP RBMS3 ENST00000383767 human ensembl 69_37n +1 known missense c.724 p.P242S 1.000 NULL pfam_RRM_dom,smart_RRM_dom,prints_Hud_Sxl_RNA,pfscan_RRM_dom - no_errors RBMS3 HGNC ENSG00000144642 39 0 0.00 18 5 21.74 - - - REEP5 0 genome.wustl.edu 37 5 112214534 112214537 + Splice_Site DEL TGTT TGTT - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 TGTT TGTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 112214534 112214537 TGTT - DEL REEP5 ENST00000379638 human ensembl 69_37n -1 known splice_site_del c.521-5_521-2 e5-2 0.810:0.586:0.513:0.489 - - - no_errors REEP5 HGNC ENSG00000129625 196 0 0.00 82 55 40.15 - - - RELN 0 genome.wustl.edu 37 7 103216114 103216114 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 7 103216114 103216114 T C SNP RELN ENST00000424685 human ensembl 69_37n -1 known missense c.4184 p.Q1395R 1.000 superfamily_Growth_fac_rcpt pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EGF-like,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 173 0 0.00 126 26 17.11 - - - REXO2 0 genome.wustl.edu 37 11 114320750 114320750 + RNA DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 114320750 114320750 T - DEL REXO2 ENST00000544507 human ensembl 69_37n +1 putative rna NULL NULL 0.000 - - - no_errors REXO2 HGNC ENSG00000076043 170 1 0.58 46 58 53.21 - - - RFC1 0 genome.wustl.edu 37 4 39310304 39310304 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 39310304 39310304 G A SNP RFC1 ENST00000381897 human ensembl 69_37n -1 known missense c.1837 p.R613C 0.998 pirsf_DNA_replication_fac_C_lsu pfam_DNA_replication_fac_RFC1_C,pfam_BRCT_dom,pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,superfamily_BRCT_dom,smart_BRCT_dom,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom - no_errors RFC1 HGNC ENSG00000035928 383 0 0.00 312 81 20.61 - - - RFX5 0 genome.wustl.edu 37 1 151314915 151314915 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 151314915 151314915 C T SNP RFX5 ENST00000290524 human ensembl 69_37n -1 known missense c.1598 p.G533D 0.571 NULL pfam_DNA-bd_RFX - no_errors RFX5 HGNC ENSG00000143390 303 0 0.00 345 56 13.93 - - - RGR 0 genome.wustl.edu 37 10 86018398 86018398 + RNA SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 86018398 86018398 C A SNP RGR ENST00000479725 human ensembl 69_37n +1 known rna NULL NULL 0.094 - - - no_errors RGR HGNC ENSG00000148604 47 0 0.00 18 6 25.00 - - - RGS6 0 genome.wustl.edu 37 14 73002973 73002973 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 14 73002973 73002973 C T SNP RGS6 ENST00000553525 human ensembl 69_37n +1 known missense c.1358 p.A453V 1.000 NULL pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS6 HGNC ENSG00000182732 148 0 0.00 100 30 23.08 - - - RHOBTB1 0 genome.wustl.edu 37 10 62631222 62631222 + RNA DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 62631222 62631222 T - DEL RHOBTB1 ENST00000461910 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors RHOBTB1 HGNC ENSG00000072422 108 0 0.00 73 10 11.76 - - - RHOJ 0 genome.wustl.edu 37 14 63757752 63757752 + Missense_Mutation SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 14 63757752 63757752 G T SNP RHOJ ENST00000557447 human ensembl 69_37n +1 known missense c.312 p.W104C 0.007 smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOJ HGNC ENSG00000126785 73 0 0.00 39 26 40.00 - - - RHOXF2B 0 genome.wustl.edu 37 X 119211023 119211023 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c X 119211023 119211023 C T SNP RHOXF2B ENST00000371402 human ensembl 69_37n -1 known missense c.310 p.V104I 0.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors RHOXF2B HGNC ENSG00000203989 40 0 0.00 21 11 34.38 - - - RIMS2 0 genome.wustl.edu 37 8 104924347 104924347 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 8 104924347 104924347 C T SNP RIMS2 ENST00000406091 human ensembl 69_37n +1 known missense c.1759 p.R587C 1.000 superfamily_PDZ pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 97 0 0.00 60 76 55.88 - - - RIN3 0 genome.wustl.edu 37 14 93118043 93118043 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 14 93118043 93118043 G A SNP RIN3 ENST00000216487 human ensembl 69_37n +1 known missense c.649 p.A217T 0.000 NULL pfam_VPS9,smart_SH2,smart_VPS9_subgr,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN3 HGNC ENSG00000100599 28 0 0.00 14 4 22.22 - - - RND1 0 genome.wustl.edu 37 12 49259482 49259482 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 49259482 49259482 C T SNP RND1 ENST00000309739 human ensembl 69_37n -1 known silent c.69 p.Q23 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RND1 HGNC ENSG00000172602 49 0 0.00 25 17 40.48 - - - RNF113A 0 genome.wustl.edu 37 X 119005376 119005376 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c X 119005376 119005376 T C SNP RNF113A ENST00000371442 human ensembl 69_37n -1 known missense c.201 p.I67M 0.977 NULL pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF113A HGNC ENSG00000125352 172 0 0.00 89 39 30.47 - - - RNF43 0 genome.wustl.edu 37 17 56448375 56448375 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 56448375 56448375 C T SNP RNF43 ENST00000407977 human ensembl 69_37n -1 known missense c.272 p.C91Y 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 60 0 0.00 56 17 23.29 - - - ROCK1 0 genome.wustl.edu 37 18 18625334 18625334 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 18 18625334 18625334 A G SNP ROCK1 ENST00000399799 human ensembl 69_37n -1 known missense c.509 p.V170A 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,pirsf_Rho-assoc_coiled-coil_kinase,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors ROCK1 HGNC ENSG00000067900 61 0 0.00 37 5 11.90 - - - ROR1 0 genome.wustl.edu 37 1 64643693 64643693 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 64643693 64643693 C T SNP ROR1 ENST00000371079 human ensembl 69_37n +1 known missense c.1969 p.R657C 1.000 pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors ROR1 HGNC ENSG00000185483 148 0 0.00 135 17 11.18 - - - ROS1 0 genome.wustl.edu 37 6 117706915 117706915 + Silent SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 117706915 117706915 A G SNP ROS1 ENST00000368508 human ensembl 69_37n -1 known silent c.2235 p.I745 0.989 smart_LDLR_classB_rpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom - no_errors ROS1 HGNC ENSG00000047936 160 0 0.00 104 24 18.75 - - - ROS1 0 genome.wustl.edu 37 6 117710573 117710573 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 117710573 117710573 G A SNP ROS1 ENST00000368508 human ensembl 69_37n -1 known silent c.1699 p.L567 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom - no_errors ROS1 HGNC ENSG00000047936 112 0 0.00 106 23 17.83 - - - RP1 0 genome.wustl.edu 37 8 55537499 55537499 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 8 55537499 55537499 G A SNP RP1 ENST00000220676 human ensembl 69_37n +1 known missense c.1057 p.V353I 0.863 NULL pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 67 0 0.00 44 11 20.00 - - - RP2 0 genome.wustl.edu 37 X 46713150 46713150 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c X 46713150 46713150 C T SNP RP2 ENST00000218340 human ensembl 69_37n +1 known silent c.342 p.C114 1.000 pfam_Tubulin-bd_cofactor_C,smart_CARP_motif,pirsf_Protein_XRP2 pfam_Tubulin-bd_cofactor_C,superfamily_Nucleoside_diP_kinase,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif,pirsf_Protein_XRP2 - no_errors RP2 HGNC ENSG00000102218 253 0 0.00 156 18 10.34 - - - RPL12 0 genome.wustl.edu 37 9 130211976 130211976 + Frame_Shift_Del DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 130211976 130211976 T - DEL RPL12 ENST00000361436 human ensembl 69_37n -1 known frame_shift_del c.123 p.V42fs 0.954 pfam_Ribosomal_L11_N,superfamily_Ribosomal_L11_N,smart_Ribosomal_L11 pfam_Ribosomal_L11_N,pfam_Ribosomal_L11_C,superfamily_Ribosomal_L11_N,superfamily_Ribosomal_L11_C,smart_Ribosomal_L11 - no_errors RPL12 HGNC ENSG00000197958 55 0 0.00 24 16 40.00 - - - RPL13AP3 0 genome.wustl.edu 37 14 56233234 56233234 + RNA SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 14 56233234 56233234 C T SNP RPL13AP3 ENST00000494676 human ensembl 69_37n +1 known rna NULL NULL 0.997 - - - no_errors RPL13AP3 HGNC ENSG00000177350 20 0 0.00 7 14 66.67 - - - RPL22 0 genome.wustl.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 6257785 6257785 T - DEL RPL22 ENST00000234875 human ensembl 69_37n -1 known frame_shift_del c.44 p.K15fs 1.000 pfam_Ribosomal_L22e pfam_Ribosomal_L22e - no_errors RPL22 HGNC ENSG00000116251 120 1 0.83 45 24 34.78 - - - RPL3 0 genome.wustl.edu 37 22 39715077 39715078 + Frame_Shift_Del DEL CA CA - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 22 39715077 39715078 CA - DEL RPL3 ENST00000453303 human ensembl 69_37n -1 putative frame_shift_del c.40_39 p.A14fs 1.000:1.000 NULL pfam_Ribosomal_L3,superfamily_Transl_elong_init/rib_B-barrel - no_start_codon:no_stop_codon:bad_bp_length_for_coding_region RPL3 HGNC ENSG00000100316 34 0 0.00 24 5 17.24 - - - RPL37 0 genome.wustl.edu 37 5 40835273 40835273 + RNA SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 40835273 40835273 G A SNP RPL37 ENST00000504562 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors RPL37 HGNC ENSG00000145592 37 0 0.00 31 17 35.42 - - - RPP30 0 genome.wustl.edu 37 10 92655162 92655162 + RNA DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 92655162 92655162 T - DEL RPP30 ENST00000487998 human ensembl 69_37n +1 known rna NULL NULL 0.003 - - - no_errors RPP30 HGNC ENSG00000148688 69 0 0.00 39 14 25.93 - - - RPRD1B 0 genome.wustl.edu 37 20 36662353 36662355 + In_Frame_Del DEL TCC TCC - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 20 36662353 36662355 TCC - DEL RPRD1B ENST00000373433 human ensembl 69_37n +1 known in_frame_del c.4_6 p.S3in_frame_del 1.000:1.000:1.000 superfamily_ENTH_VHS pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD - no_errors RPRD1B HGNC ENSG00000101413 29 0 0.00 15 13 46.43 - - - RPRD2 0 genome.wustl.edu 37 1 150443266 150443266 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 150443266 150443266 C T SNP RPRD2 ENST00000369068 human ensembl 69_37n +1 known silent c.1842 p.S614 0.999 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,superfamily_Ricin_B_lectin,smart_RNA_polymerase_II_lsu_CTD - no_errors RPRD2 HGNC ENSG00000163125 198 0 0.00 272 43 13.65 - - - RPS10P7 0 genome.wustl.edu 37 1 201489727 201489727 + RNA SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 201489727 201489727 A G SNP RPS10P7 ENST00000441932 human ensembl 69_37n +1 known rna NULL NULL 0.017 - - - no_errors RPS10P7 HGNC ENSG00000223396 38 0 0.00 36 15 29.41 - - - RPS6KA1 0 genome.wustl.edu 37 1 26900923 26900923 + Frame_Shift_Del DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 26900923 26900923 T - DEL RPS6KA1 ENST00000438977 human ensembl 69_37n +1 putative frame_shift_del c.337 p.L115fs 0.672 NULL pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom - no_start_codon RPS6KA1 HGNC ENSG00000117676 26 0 0.00 15 6 28.57 - - - RPS6KA3 0 genome.wustl.edu 37 X 20211692 20211694 + In_Frame_Del DEL TCT TCT - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c X 20211692 20211694 TCT - DEL RPS6KA3 ENST00000379565 human ensembl 69_37n -1 known in_frame_del c.506_504 p.E168in_frame_del 1.000:1.000:1.000 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,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RPS6KA3 HGNC ENSG00000177189 80 0 0.00 51 12 18.75 - - - RPS6KC1 0 genome.wustl.edu 37 1 213446107 213446107 + RNA DEL G G - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 213446107 213446107 G - DEL RPS6KC1 ENST00000490299 human ensembl 69_37n +1 known rna NULL NULL 0.109 - - - no_errors RPS6KC1 HGNC ENSG00000136643 64 0 0.00 87 14 13.86 - - - RPTOR 0 genome.wustl.edu 37 17 78867510 78867510 + Missense_Mutation SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 78867510 78867510 G T SNP RPTOR ENST00000306801 human ensembl 69_37n +1 known missense c.2246 p.G749V 1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor - no_errors RPTOR HGNC ENSG00000141564 101 0 0.00 28 25 47.17 - - - RPUSD4 0 genome.wustl.edu 37 11 126075389 126075389 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 126075389 126075389 G A SNP RPUSD4 ENST00000298317 human ensembl 69_37n -1 known missense c.770 p.A257V 0.999 pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom - no_errors RPUSD4 HGNC ENSG00000165526 47 0 0.00 27 13 32.50 - - - RSPH4A 0 genome.wustl.edu 37 6 116953503 116953503 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 116953503 116953503 G A SNP RSPH4A ENST00000229554 human ensembl 69_37n +1 known missense c.2050 p.E684K 1.000 pfam_Radial_spoke pfam_Radial_spoke - no_errors RSPH4A HGNC ENSG00000111834 96 0 0.00 93 19 16.96 - - - RUNX1T1 0 genome.wustl.edu 37 8 92988197 92988197 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 8 92988197 92988197 C T SNP RUNX1T1 ENST00000436581 human ensembl 69_37n -1 known silent c.1317 p.A439 0.170 prints_MTG8 pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8 - no_errors RUNX1T1 HGNC ENSG00000079102 142 1 0.70 88 125 58.69 - - - RUSC1-AS1 0 genome.wustl.edu 37 1 155290747 155290747 + RNA SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 155290747 155290747 C T SNP RUSC1-AS1 ENST00000450199 human ensembl 69_37n -1 known rna NULL NULL 0.004 - - - no_errors RUSC1-AS1 HGNC ENSG00000225855 42 0 0.00 34 7 17.07 - - - RUVBL2 0 genome.wustl.edu 37 19 49513294 49513294 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 49513294 49513294 G A SNP RUVBL2 ENST00000221413 human ensembl 69_37n +1 known missense c.634 p.A212T 1.000 pfam_TIP49_C,superfamily_NA-bd_OB-fold-like,smart_AAA+_ATPase pfam_TIP49_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_DnaB-like_C,superfamily_NA-bd_OB-fold-like,smart_AAA+_ATPase,prints_DNA_repair_RadA - no_errors RUVBL2 HGNC ENSG00000183207 25 0 0.00 12 9 42.86 - - - RXFP1 0 genome.wustl.edu 37 4 159566200 159566200 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 159566200 159566200 A G SNP RXFP1 ENST00000307765 human ensembl 69_37n +1 known missense c.1255 p.T419A 1.000 NULL pfam_7TM_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_supfam,prints_Relaxin_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Gphrmn_rcpt - no_errors RXFP1 HGNC ENSG00000171509 84 0 0.00 70 10 12.50 - - - RYK 0 genome.wustl.edu 37 3 133921685 133921685 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 133921685 133921685 G A SNP RYK ENST00000427044 human ensembl 69_37n -1 known missense c.101 p.T34M 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RYK HGNC ENSG00000163785 123 0 0.00 88 61 40.94 - - - S1PR3 0 genome.wustl.edu 37 9 91616443 91616443 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 91616443 91616443 G A SNP S1PR3 ENST00000358157 human ensembl 69_37n +1 known missense c.328 p.V110I 0.831 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_EDG1_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_EDG3_rcpt,prints_S1P_rcpt,prints_7TM_GPCR_Rhodpsn,prints_EDG1_rcpt,prints_Cnbnoid_rcpt - no_errors S1PR3 HGNC ENSG00000213694 129 0 0.00 89 25 21.93 - - - S1PR3 0 genome.wustl.edu 37 9 91616712 91616712 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 91616712 91616712 C T SNP S1PR3 ENST00000358157 human ensembl 69_37n +1 known silent c.597 p.F199 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_S1P_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Cnbnoid_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_EDG3_rcpt,prints_S1P_rcpt,prints_7TM_GPCR_Rhodpsn,prints_EDG1_rcpt,prints_Cnbnoid_rcpt - no_errors S1PR3 HGNC ENSG00000213694 110 0 0.00 83 11 11.58 - - - SAFB 0 genome.wustl.edu 37 19 5657321 5657321 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 5657321 5657321 A G SNP SAFB ENST00000588852 human ensembl 69_37n +1 known missense c.1825 p.K609E 1.000 NULL pfam_RRM_dom,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_RRM_dom,pfscan_SAP_DNA-bd,pfscan_RRM_dom - no_errors SAFB HGNC ENSG00000160633 32 0 0.00 10 6 37.50 - - - SALL4 0 genome.wustl.edu 37 20 50400983 50400983 + Frame_Shift_Del DEL C C - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 20 50400983 50400983 C - DEL SALL4 ENST00000217086 human ensembl 69_37n -1 known frame_shift_del c.2983 p.V995fs 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL4 HGNC ENSG00000101115 92 0 0.00 57 16 21.05 - - - SALL4 0 genome.wustl.edu 37 20 50407595 50407595 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 20 50407595 50407595 G A SNP SALL4 ENST00000217086 human ensembl 69_37n -1 known missense c.1427 p.P476L 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL4 HGNC ENSG00000101115 99 0 0.00 77 19 19.79 - - - SAP130 0 genome.wustl.edu 37 2 128767866 128767866 + Silent SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 128767866 128767866 C A SNP SAP130 ENST00000357702 human ensembl 69_37n -1 known silent c.924 p.A308 0.987 NULL NULL - no_errors SAP130 HGNC ENSG00000136715 77 0 0.00 71 34 32.38 - - - SAV1 0 genome.wustl.edu 37 14 51101903 51101903 + Frame_Shift_Del DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 14 51101903 51101903 A - DEL SAV1 ENST00000324679 human ensembl 69_37n -1 known frame_shift_del c.1150 p.*384fs 1.000 NULL pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_SARAH,pfscan_WW_Rsp5_WWP - no_errors SAV1 HGNC ENSG00000151748 89 0 0.00 78 9 10.34 - - - SBNO1 0 genome.wustl.edu 37 12 123813396 123813396 + Frame_Shift_Del DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 123813396 123813396 T - DEL SBNO1 ENST00000420886 human ensembl 69_37n -1 known frame_shift_del c.1181 p.K394fs 1.000 pfam_Helicase/UvrB_dom pfam_Helicase/UvrB_dom,superfamily_Prismane-like - no_errors SBNO1 HGNC ENSG00000139697 104 0 0.00 112 27 19.15 - - - SCAI 0 genome.wustl.edu 37 9 127828280 127828280 + Missense_Mutation SNP A A C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 127828280 127828280 A C SNP SCAI ENST00000373549 human ensembl 69_37n -1 known missense c.156 p.H52Q 0.155 pirsf_UCP013022 pfam_DUF3550,pirsf_UCP013022 - no_errors SCAI HGNC ENSG00000173611 111 0 0.00 67 50 42.74 - - - SCAND3 0 genome.wustl.edu 37 6 28540692 28540692 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 28540692 28540692 G A SNP SCAND3 ENST00000452236 human ensembl 69_37n -1 known missense c.2974 p.P992S 0.945 superfamily_RNaseH-like_dom pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN - no_errors SCAND3 HGNC ENSG00000232040 147 0 0.00 103 66 39.05 - - - SCD5 0 genome.wustl.edu 37 4 83626534 83626534 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 83626534 83626534 C T SNP SCD5 ENST00000319540 human ensembl 69_37n -1 known missense c.265 p.V89M 0.994 pfam_Fatty_acid_desaturase-1,prints_Fatty_acid_desaturase-1_core pfam_Fatty_acid_desaturase-1,prints_Fatty_acid_desaturase-1_core - no_errors SCD5 HGNC ENSG00000145284 40 0 0.00 31 8 20.51 - - - SCEL 0 genome.wustl.edu 37 13 78191973 78191973 + Missense_Mutation SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 13 78191973 78191973 C A SNP SCEL ENST00000349847 human ensembl 69_37n +1 known missense c.1547 p.P516H 0.003 NULL smart_Znf_LIM,pfscan_Znf_LIM - no_errors SCEL HGNC ENSG00000136155 336 0 0.00 354 78 18.06 - - - SCGB2A1 0 genome.wustl.edu 37 11 61976233 61976233 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 61976233 61976233 G A SNP SCGB2A1 ENST00000244930 human ensembl 69_37n +1 known silent c.30 p.A10 0.004 pfam_Uteroglobin-like_superfam pfam_Uteroglobin-like_superfam,superfamily_Secretoglobin - no_errors SCGB2A1 HGNC ENSG00000124939 153 0 0.00 112 23 17.04 - - - SCLT1 0 genome.wustl.edu 37 4 129869675 129869675 + Frame_Shift_Del DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 129869675 129869675 T - DEL SCLT1 ENST00000281142 human ensembl 69_37n -1 known frame_shift_del c.1269 p.A424fs 1.000 NULL NULL - no_errors SCLT1 HGNC ENSG00000151466 94 0 0.00 85 31 26.05 - - - SCN10A 0 genome.wustl.edu 37 3 38748822 38748822 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 38748822 38748822 G A SNP SCN10A ENST00000449082 human ensembl 69_37n -1 known missense c.4334 p.A1445V 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 95 0 0.00 23 28 53.85 - - - SCN1B 0 genome.wustl.edu 37 19 35530162 35530162 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 35530162 35530162 C T SNP SCN1B ENST00000262631 human ensembl 69_37n +1 known missense c.590 p.A197V 1.000 NULL pfam_Immunoglobulin,pfam_Ig_V-set - no_errors SCN1B HGNC ENSG00000105711 72 0 0.00 41 9 18.00 - - - SCN3A 0 genome.wustl.edu 37 2 166011045 166011045 + Missense_Mutation SNP C C G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 166011045 166011045 C G SNP SCN3A ENST00000283254 human ensembl 69_37n -1 known missense c.1297 p.A433P 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN3A HGNC ENSG00000153253 156 0 0.00 156 44 22.00 - - - SCN7A 0 genome.wustl.edu 37 2 167273463 167273464 + Frame_Shift_Ins INS - - A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 167273463 167273464 - A INS SCN7A ENST00000409855 human ensembl 69_37n -1 known frame_shift_ins c.3168_3167 p.L1056fs 0.979:0.999 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC ENSG00000136546 36 0 0.00 41 8 16.33 - - - SCRN3 0 genome.wustl.edu 37 2 175287696 175287696 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 175287696 175287696 G A SNP SCRN3 ENST00000272732 human ensembl 69_37n +1 known missense c.838 p.A280T 1.000 NULL pfam_Peptidase_C69 - no_errors SCRN3 HGNC ENSG00000144306 107 0 0.00 108 27 20.00 - - - SCRN3 0 genome.wustl.edu 37 2 175292623 175292623 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 175292623 175292623 G A SNP SCRN3 ENST00000272732 human ensembl 69_37n +1 known silent c.1275 p.*425 0.002 NULL pfam_Peptidase_C69 - no_errors SCRN3 HGNC ENSG00000144306 76 0 0.00 47 24 33.80 - - - SEC14L2 0 genome.wustl.edu 37 22 30806647 30806649 + In_Frame_Del DEL AAG AAG - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 22 30806647 30806649 AAG - DEL SEC14L2 ENST00000312932 human ensembl 69_37n +1 known in_frame_del c.643_645 p.K216in_frame_del 0.949:0.986:1.000 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran - no_errors SEC14L2 HGNC ENSG00000100003 42 0 0.00 40 10 20.00 - - - SEC14L2 0 genome.wustl.edu 37 22 30818390 30818390 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 22 30818390 30818390 G A SNP SEC14L2 ENST00000312932 human ensembl 69_37n +1 known silent c.1206 p.P402 0.724 NULL pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran - no_errors SEC14L2 HGNC ENSG00000100003 120 0 0.00 66 19 22.09 - - - SEC31B 0 genome.wustl.edu 37 10 102265865 102265865 + Missense_Mutation SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 102265865 102265865 C A SNP SEC31B ENST00000370345 human ensembl 69_37n -1 known missense c.976 p.G326C 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31B HGNC ENSG00000075826 194 0 0.00 136 45 24.86 - - - SEC63 0 genome.wustl.edu 37 6 108204320 108204322 + In_Frame_Del DEL CTT CTT - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 108204320 108204322 CTT - DEL SEC63 ENST00000369002 human ensembl 69_37n -1 known in_frame_del c.1705_1703 p.E568in_frame_del 0.088:0.109:0.996 superfamily_ARM-type_fold,smart_Sec63-dom pfam_Sec63-dom,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_ARM-type_fold,smart_DnaJ_N,smart_Sec63-dom,prints_Hsp_DnaJ,pfscan_DnaJ_N - no_errors SEC63 HGNC ENSG00000025796 85 0 0.00 99 21 17.50 - - - SEL1L 0 genome.wustl.edu 37 14 81956740 81956740 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 14 81956740 81956740 C T SNP SEL1L ENST00000336735 human ensembl 69_37n -1 known missense c.1324 p.A442T 1.000 pfam_Sel1-like,smart_Sel1-like pfam_Sel1-like,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_Sel1-like,pfscan_FN_type2_col-bd - no_errors SEL1L HGNC ENSG00000071537 142 0 0.00 105 27 20.45 - - - SEL1L3 0 genome.wustl.edu 37 4 25836873 25836873 + Missense_Mutation SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 25836873 25836873 C A SNP SEL1L3 ENST00000399878 human ensembl 69_37n -1 known missense c.806 p.R269M 0.943 superfamily_ConA-like_lec_gl pfam_Sel1-like,superfamily_ConA-like_lec_gl,smart_Sel1-like - no_errors SEL1L3 HGNC ENSG00000091490 175 0 0.00 188 46 19.57 - - - SEMA3C 0 genome.wustl.edu 37 7 80427531 80427531 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 7 80427531 80427531 G A SNP SEMA3C ENST00000544525 human ensembl 69_37n -1 known silent c.1062 p.A354 0.828 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Ig_I-set,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA3C HGNC ENSG00000075223 52 0 0.00 48 12 20.00 - - - SEMA4A 0 genome.wustl.edu 37 1 156145219 156145219 + RNA SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 156145219 156145219 G A SNP SEMA4A ENST00000484155 human ensembl 69_37n +1 putative rna NULL NULL 0.041 - - - no_errors SEMA4A HGNC ENSG00000196189 174 0 0.00 148 61 29.19 - - - SERINC1 0 genome.wustl.edu 37 6 122777722 122777722 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 122777722 122777722 C T SNP SERINC1 ENST00000339697 human ensembl 69_37n -1 known missense c.275 p.R92H 1.000 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC1 HGNC ENSG00000111897 163 0 0.00 170 33 16.26 - - - SERPINB12 0 genome.wustl.edu 37 18 61228376 61228376 + Frame_Shift_Del DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 18 61228376 61228376 A - DEL SERPINB12 ENST00000269491 human ensembl 69_37n +1 known frame_shift_del c.443 p.N150fs 0.009 pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom - no_errors SERPINB12 HGNC ENSG00000166634 130 0 0.00 72 33 30.56 - - - SETMAR 0 genome.wustl.edu 37 3 4354769 4354769 + Frame_Shift_Del DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 4354769 4354769 T - DEL SETMAR ENST00000358065 human ensembl 69_37n +1 known frame_shift_del c.344 p.F116fs 0.952 pfam_Pre-SET_dom,smart_Pre-SET_Zn-bd_sub,pfscan_Pre-SET_dom pfam_Transposase_1,pfam_SET_dom,pfam_Pre-SET_dom,pfam_Transposase_Tc1-like,pfam_Transposase_14,superfamily_Homeodomain-like,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom - no_errors SETMAR HGNC ENSG00000170364 103 0 0.00 57 9 13.24 - - - SETX 0 genome.wustl.edu 37 9 135221823 135221823 + Missense_Mutation SNP A A T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 135221823 135221823 A T SNP SETX ENST00000372169 human ensembl 69_37n -1 known missense c.213 p.N71K 0.793 NULL NULL - no_errors SETX HGNC ENSG00000107290 54 0 0.00 35 19 35.19 - - - SGMS2 0 genome.wustl.edu 37 4 108829842 108829842 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 108829842 108829842 C T SNP SGMS2 ENST00000359079 human ensembl 69_37n +1 known silent c.849 p.I283 1.000 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase - no_errors SGMS2 HGNC ENSG00000164023 237 0 0.00 147 36 19.67 - - - SGOL1 0 genome.wustl.edu 37 3 20225112 20225112 + Silent SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 20225112 20225112 T C SNP SGOL1 ENST00000263753 human ensembl 69_37n -1 known silent c.327 p.V109 0.802 NULL pfam_Shugoshin_N,pfam_Shugoshin_C - no_errors SGOL1 HGNC ENSG00000129810 244 0 0.00 212 48 18.46 - - - SH2B3 0 genome.wustl.edu 37 12 111885211 111885211 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 111885211 111885211 G A SNP SH2B3 ENST00000538307 human ensembl 69_37n +1 known missense c.493 p.G165S 1.000 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SH2B3 HGNC ENSG00000111252 92 0 0.00 56 25 30.86 - - - SHMT1 0 genome.wustl.edu 37 17 18238961 18238961 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 18238961 18238961 G A SNP SHMT1 ENST00000316694 human ensembl 69_37n -1 known silent c.843 p.G281 1.000 pfam_Ser_HO-MeTrfase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Ser_HO-MeTrfase pfam_Ser_HO-MeTrfase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Ser_HO-MeTrfase - no_errors SHMT1 HGNC ENSG00000176974 133 0 0.00 81 13 13.83 - - - SIGLEC8 0 genome.wustl.edu 37 19 51960770 51960770 + Silent SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 51960770 51960770 C A SNP SIGLEC8 ENST00000321424 human ensembl 69_37n -1 known silent c.678 p.V226 0.171 pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC8 HGNC ENSG00000105366 85 0 0.00 67 8 10.67 - - - SIN3A 0 genome.wustl.edu 37 15 75673981 75673983 + In_Frame_Del DEL CTC CTC - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 15 75673981 75673983 CTC - DEL SIN3A ENST00000360439 human ensembl 69_37n -1 known in_frame_del c.3261_3259 p.E1087in_frame_del 0.997:1.000:1.000 NULL pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3A HGNC ENSG00000169375 121 0 0.00 76 12 13.48 - - - SIPA1L3 0 genome.wustl.edu 37 19 38632037 38632037 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 38632037 38632037 A G SNP SIPA1L3 ENST00000222345 human ensembl 69_37n +1 known missense c.3357 p.I1119M 0.900 NULL pfam_DUF3401,pfam_Rap_GAP,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L3 HGNC ENSG00000105738 71 0 0.00 73 15 17.05 - - - SLC10A6 0 genome.wustl.edu 37 4 87746685 87746685 + Missense_Mutation SNP C C G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 87746685 87746685 C G SNP SLC10A6 ENST00000273905 human ensembl 69_37n -1 known missense c.807 p.M269I 1.000 tigrfam_Bil_ac_transpt pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt - no_errors SLC10A6 HGNC ENSG00000145283 100 0 0.00 100 22 18.03 - - - SLC12A2 0 genome.wustl.edu 37 5 127510242 127510242 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 127510242 127510242 T C SNP SLC12A2 ENST00000262461 human ensembl 69_37n +1 known missense c.2813 p.L938S 0.998 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt1,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A2 HGNC ENSG00000064651 80 0 0.00 37 40 51.95 - - - SLC12A7 0 genome.wustl.edu 37 5 1065482 1065482 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 1065482 1065482 C T SNP SLC12A7 ENST00000264930 human ensembl 69_37n -1 known missense c.2353 p.G785S 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A7 HGNC ENSG00000113504 23 0 0.00 6 9 60.00 - - - SLC16A1 0 genome.wustl.edu 37 1 113471890 113471890 + Frame_Shift_Del DEL G G - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 113471890 113471890 G - DEL SLC16A1 ENST00000369626 human ensembl 69_37n -1 known frame_shift_del c.41 p.P14fs 1.000 tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A1 HGNC ENSG00000155380 69 0 0.00 64 11 14.47 - - - SLC16A2 0 genome.wustl.edu 37 X 73744262 73744262 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c X 73744262 73744262 C T SNP SLC16A2 ENST00000276033 human ensembl 69_37n +1 known missense c.866 p.P289L 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A2 HGNC ENSG00000147100 79 0 0.00 25 21 45.65 - - - SLC18A1 0 genome.wustl.edu 37 8 20028926 20028926 + Silent SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 8 20028926 20028926 T C SNP SLC18A1 ENST00000276373 human ensembl 69_37n -1 known silent c.804 p.L268 0.080 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Multidrug-R pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Multidrug-R - no_errors SLC18A1 HGNC ENSG00000036565 195 1 0.51 80 78 49.37 - - - SLC25A14 0 genome.wustl.edu 37 X 129480618 129480618 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c X 129480618 129480618 G A SNP SLC25A14 ENST00000339231 human ensembl 69_37n +1 known silent c.261 p.A87 0.158 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A14 HGNC ENSG00000102078 318 0 0.00 142 66 31.73 - - - SLC25A6 0 genome.wustl.edu 37 X 1508427 1508427 + Frame_Shift_Del DEL C C - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c X 1508427 1508427 C - DEL SLC25A6 ENST00000381401 human ensembl 69_37n -1 known frame_shift_del c.305 p.G102fs 0.982 superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor,prints_Mit_uncoupling - no_errors SLC25A6 HGNC ENSG00000169100 88 0 0.00 27 16 36.36 - - - SLC30A4 0 genome.wustl.edu 37 15 45814234 45814234 + Nonsense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 15 45814234 45814234 G A SNP SLC30A4 ENST00000261867 human ensembl 69_37n -1 known nonsense c.319 p.Q107* 1.000 NULL pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A4 HGNC ENSG00000104154 124 0 0.00 54 17 23.94 - - - SLC30A5 0 genome.wustl.edu 37 5 68425349 68425349 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 68425349 68425349 A G SNP SLC30A5 ENST00000396591 human ensembl 69_37n +1 known missense c.2203 p.M735V 1.000 NULL pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A5 HGNC ENSG00000145740 98 0 0.00 67 25 27.17 - - - SLC35C1 0 genome.wustl.edu 37 11 45832724 45832724 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 45832724 45832724 C T SNP SLC35C1 ENST00000314134 human ensembl 69_37n +1 known silent c.933 p.A311 0.707 pfam_DUF250,pfam_UAA pfam_DUF250,pfam_UAA,pfam_DMT - no_errors SLC35C1 HGNC ENSG00000181830 17 0 0.00 13 4 23.53 - - - SLC36A2 0 genome.wustl.edu 37 5 150704982 150704982 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 150704982 150704982 G A SNP SLC36A2 ENST00000335244 human ensembl 69_37n -1 known missense c.875 p.A292V 0.931 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC36A2 HGNC ENSG00000186335 106 0 0.00 70 9 11.39 - - - SLC38A7 0 genome.wustl.edu 37 16 58705111 58705111 + Frame_Shift_Del DEL C C - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 16 58705111 58705111 C - DEL SLC38A7 ENST00000219320 human ensembl 69_37n -1 known frame_shift_del c.1069 p.V357fs 0.001 pfam_AA_transpt_TM pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease - no_errors SLC38A7 HGNC ENSG00000103042 25 0 0.00 9 6 40.00 - - - SLC46A2 0 genome.wustl.edu 37 9 115652996 115652996 + RNA SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 115652996 115652996 G A SNP SLC46A2 ENST00000491462 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors SLC46A2 HGNC ENSG00000119457 17 0 0.00 14 4 22.22 - - - SLC4A1 0 genome.wustl.edu 37 17 42327840 42327840 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 42327840 42327840 C T SNP SLC4A1 ENST00000262418 human ensembl 69_37n -1 known missense c.2722 p.A908T 0.130 tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_1,tigrfam_HCO3_transpt_euk - no_errors SLC4A1 HGNC ENSG00000004939 51 0 0.00 13 13 50.00 - - - SLC4A2 0 genome.wustl.edu 37 7 150771315 150771315 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 7 150771315 150771315 G A SNP SLC4A2 ENST00000413384 human ensembl 69_37n +1 known missense c.2725 p.A909T 1.000 pfam_HCO3_transpt_C,prints_Anion_exchange,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk - no_errors SLC4A2 HGNC ENSG00000164889 26 0 0.00 8 4 33.33 - - - SLC5A10 0 genome.wustl.edu 37 17 18922757 18922757 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 18922757 18922757 C T SNP SLC5A10 ENST00000395647 human ensembl 69_37n +1 known silent c.1311 p.I437 0.995 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A10 HGNC ENSG00000154025 24 0 0.00 7 4 36.36 - - - SLC5A9 0 genome.wustl.edu 37 1 48699340 48699340 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 48699340 48699340 C T SNP SLC5A9 ENST00000425816 human ensembl 69_37n +1 known missense c.841 p.R281C 0.947 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A9 HGNC ENSG00000117834 69 0 0.00 43 9 17.31 - - - SLC6A15 0 genome.wustl.edu 37 12 85285703 85285703 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 85285703 85285703 C T SNP SLC6A15 ENST00000266682 human ensembl 69_37n -1 known missense c.197 p.S66N 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan,pfscan_Na/ntran_symport - no_errors SLC6A15 HGNC ENSG00000072041 208 0 0.00 220 48 17.78 - - - SLC6A3 0 genome.wustl.edu 37 5 1432721 1432721 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 1432721 1432721 A G SNP SLC6A3 ENST00000270349 human ensembl 69_37n -1 known missense c.511 p.F171L 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_dopamine - no_errors SLC6A3 HGNC ENSG00000142319 35 0 0.00 27 10 27.03 - - - SLC7A14 0 genome.wustl.edu 37 3 170244694 170244694 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 170244694 170244694 C T SNP SLC7A14 ENST00000231706 human ensembl 69_37n -1 known missense c.32 p.R11Q 1.000 NULL pfam_AA-permease_dom - no_errors SLC7A14 HGNC ENSG00000013293 57 0 0.00 56 12 17.14 - - - SLC7A7 0 genome.wustl.edu 37 14 23243598 23243598 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 14 23243598 23243598 G A SNP SLC7A7 ENST00000285850 human ensembl 69_37n -1 known missense c.1210 p.R404C 1.000 pirsf_AA/rel_permease1 pfam_AA-permease_dom,pirsf_AA/rel_permease1 - no_errors SLC7A7 HGNC ENSG00000155465 378 0 0.00 240 89 27.05 - - - SLC7A9 0 genome.wustl.edu 37 19 33353088 33353088 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 33353088 33353088 C T SNP SLC7A9 ENST00000023064 human ensembl 69_37n -1 known missense c.640 p.A214T 0.000 pfam_AA-permease_dom,pirsf_AA/rel_permease1 pfam_AA-permease_dom,pirsf_AA/rel_permease1 - no_errors SLC7A9 HGNC ENSG00000021488 103 0 0.00 107 17 13.71 - - - SLC9A2 0 genome.wustl.edu 37 2 103324829 103324829 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 103324829 103324829 G A SNP SLC9A2 ENST00000233969 human ensembl 69_37n +1 known missense c.2320 p.G774S 0.008 NULL pfam_Cation/H_exchanger,prints_Na/H_exchanger_2,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A2 HGNC ENSG00000115616 260 1 0.38 174 43 19.72 - - - SLC9A8 0 genome.wustl.edu 37 20 48500497 48500497 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 20 48500497 48500497 T C SNP SLC9A8 ENST00000417961 human ensembl 69_37n +1 known missense c.1433 p.L478P 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A8 HGNC ENSG00000197818 90 0 0.00 51 13 20.31 - - - SLC9C1 0 genome.wustl.edu 37 3 111940058 111940059 + Frame_Shift_Del DEL TC TC - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 TC TC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 111940058 111940059 TC - DEL SLC9C1 ENST00000305815 human ensembl 69_37n -1 known frame_shift_del c.1587_1586 p.R529fs 1.000:1.000 NULL pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C1 HGNC ENSG00000172139 108 0 0.00 91 34 27.20 - - - SLC9C1 0 genome.wustl.edu 37 3 111999618 111999618 + Missense_Mutation SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 111999618 111999618 C A SNP SLC9C1 ENST00000305815 human ensembl 69_37n -1 known missense c.101 p.R34L 0.006 pfam_Cation/H_exchanger pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C1 HGNC ENSG00000172139 69 0 0.00 65 14 17.72 - - - SLCO1A2 0 genome.wustl.edu 37 12 21457362 21457362 + Silent SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 21457362 21457362 A G SNP SLCO1A2 ENST00000307378 human ensembl 69_37n -1 known silent c.588 p.I196 1.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1A2 HGNC ENSG00000084453 136 1 0.73 138 33 19.19 - - - SLCO1A2 0 genome.wustl.edu 37 12 21457423 21457423 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 21457423 21457423 A G SNP SLCO1A2 ENST00000307378 human ensembl 69_37n -1 known missense c.527 p.L176P 0.979 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1A2 HGNC ENSG00000084453 169 0 0.00 148 34 18.68 - - - SLCO3A1 0 genome.wustl.edu 37 15 92706541 92706541 + RNA SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 15 92706541 92706541 G A SNP SLCO3A1 ENST00000555439 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors SLCO3A1 HGNC ENSG00000176463 52 0 0.00 26 5 16.13 - - - SLCO5A1 0 genome.wustl.edu 37 8 70585379 70585379 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 8 70585379 70585379 A G SNP SLCO5A1 ENST00000260126 human ensembl 69_37n -1 known missense c.2272 p.Y758H 1.000 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO5A1 HGNC ENSG00000137571 162 0 0.00 62 85 57.82 - - - SLFN11 0 genome.wustl.edu 37 17 33680924 33680924 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 33680924 33680924 C T SNP SLFN11 ENST00000308377 human ensembl 69_37n -1 known silent c.1353 p.L451 0.059 NULL pfam_ATPase_AAA-4,pfam_DUF2075 - no_errors SLFN11 HGNC ENSG00000172716 154 0 0.00 110 56 33.73 - - - SLIT2 0 genome.wustl.edu 37 4 20255442 20255442 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 20255442 20255442 C T SNP SLIT2 ENST00000504154 human ensembl 69_37n +1 known missense c.4 p.R2C 0.990 NULL pfam_EGF-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 10 0 0.00 4 7 63.64 - - - SLIT2 0 genome.wustl.edu 37 4 20618688 20618688 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 20618688 20618688 C T SNP SLIT2 ENST00000504154 human ensembl 69_37n +1 known missense c.4003 p.P1335S 1.000 smart_EGF-like pfam_EGF-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 49 0 0.00 31 16 34.04 - - - SMAD9 0 genome.wustl.edu 37 13 37453453 37453453 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 13 37453453 37453453 C T SNP SMAD9 ENST00000379826 human ensembl 69_37n -1 known missense c.374 p.C125Y 1.000 pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_MAD_homology_MH1 pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD9 HGNC ENSG00000120693 49 0 0.00 61 11 15.28 - - - SMAP2 0 genome.wustl.edu 37 1 40879826 40879826 + RNA SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 40879826 40879826 C A SNP SMAP2 ENST00000487871 human ensembl 69_37n +1 known rna NULL NULL 0.028 - - - no_errors SMAP2 HGNC ENSG00000084070 138 0 0.00 97 38 28.15 - - - SMC2 0 genome.wustl.edu 37 9 106896847 106896847 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 106896847 106896847 G A SNP SMC2 ENST00000286398 human ensembl 69_37n +1 known missense c.3260 p.G1087D 1.000 pfam_RecF/RecN/SMC pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC2 HGNC ENSG00000136824 111 0 0.00 96 14 12.73 - - - SMC5 0 genome.wustl.edu 37 9 72933477 72933477 + Missense_Mutation SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 72933477 72933477 G T SNP SMC5 ENST00000361138 human ensembl 69_37n +1 known missense c.1854 p.K618N 1.000 pfam_RecF/RecN/SMC pfam_RecF/RecN/SMC - no_errors SMC5 HGNC ENSG00000198887 115 0 0.00 140 17 10.83 - - - SMG8 0 genome.wustl.edu 37 17 57289068 57289068 + Silent SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 57289068 57289068 T C SNP SMG8 ENST00000300917 human ensembl 69_37n +1 known silent c.1656 p.H552 0.948 pfam_Smg8/Smg9 pfam_Smg8/Smg9 - no_errors SMG8 HGNC ENSG00000167447 70 0 0.00 82 17 17.17 - - - SMPDL3A 0 genome.wustl.edu 37 6 123124876 123124876 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 123124876 123124876 G A SNP SMPDL3A ENST00000368440 human ensembl 69_37n +1 known silent c.636 p.L212 0.994 pfam_Metallo_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd pfam_Metallo_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd - no_errors SMPDL3A HGNC ENSG00000172594 204 0 0.00 208 54 20.61 - - - SMYD4 0 genome.wustl.edu 37 17 1687721 1687721 + Frame_Shift_Del DEL C C - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 1687721 1687721 C - DEL SMYD4 ENST00000305513 human ensembl 69_37n -1 known frame_shift_del c.1919 p.C640fs 0.840 NULL pfam_SET_dom,pfam_Znf_MYND,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD4 HGNC ENSG00000186532 93 0 0.00 104 24 18.32 - - - SNCAIP 0 genome.wustl.edu 37 5 121776431 121776431 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 121776431 121776431 C T SNP SNCAIP ENST00000379533 human ensembl 69_37n +1 known silent c.1545 p.G515 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors SNCAIP HGNC ENSG00000064692 130 0 0.00 88 12 12.00 - - - SNED1 0 genome.wustl.edu 37 2 241989376 241989376 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 241989376 241989376 C T SNP SNED1 ENST00000431690 human ensembl 69_37n +1 novel missense c.734 p.P245L 0.000 NULL pfam_EGF-like_dom,pfam_EGF_extracell,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_start_codon:pseudogene:no_stop_codon SNED1 HGNC ENSG00000162804 18 0 0.00 8 9 52.94 - - - SNORD116-6 0 genome.wustl.edu 37 15 25310193 25310193 + RNA DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 15 25310193 25310193 A - DEL SNORD116-6 ENST00000384711 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors SNORD116-6 HGNC ENSG00000207442 214 0 0.00 105 31 21.83 - - - SNORD119 0 genome.wustl.edu 37 20 2443662 2443662 + RNA SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 20 2443662 2443662 G T SNP SNORD119 ENST00000515997 human ensembl 69_37n -1 known rna NULL NULL 0.332 - - - no_errors SNORD119 HGNC ENSG00000251806 177 1 0.56 186 39 17.33 - - - SNRNP40 0 genome.wustl.edu 37 1 31732678 31732678 + RNA DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 31732678 31732678 A - DEL SNRNP40 ENST00000486941 human ensembl 69_37n -1 known rna NULL NULL 0.040 - - - no_errors SNRNP40 HGNC ENSG00000060688 12 0 0.00 12 5 29.41 - - - SNTG1 0 genome.wustl.edu 37 8 51705323 51705323 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 8 51705323 51705323 C T SNP SNTG1 ENST00000518864 human ensembl 69_37n +1 known silent c.1488 p.G496 0.991 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTG1 HGNC ENSG00000147481 200 1 0.50 175 36 17.06 - - - SNX25 0 genome.wustl.edu 37 4 186283088 186283088 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 186283088 186283088 G A SNP SNX25 ENST00000264694 human ensembl 69_37n +1 known missense c.2170 p.D724N 1.000 pfam_Sorting_nexin_C pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Regulat_G_prot_signal,pfam_Phox,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal - no_errors SNX25 HGNC ENSG00000109762 87 0 0.00 77 16 17.20 - - - SNX3 0 genome.wustl.edu 37 6 108544180 108544180 + Nonsense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 108544180 108544180 G A SNP SNX3 ENST00000230085 human ensembl 69_37n -1 known nonsense c.232 p.R78* 0.531 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX3 HGNC ENSG00000112335 58 0 0.00 54 13 19.40 - - - SON 0 genome.wustl.edu 37 21 34922033 34922033 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 21 34922033 34922033 G A SNP SON ENST00000356577 human ensembl 69_37n +1 known missense c.496 p.A166T 0.969 NULL pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_Ds-RNA-bd - no_errors SON HGNC ENSG00000159140 92 0 0.00 44 15 25.42 - - - SON 0 genome.wustl.edu 37 21 34931975 34931975 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 21 34931975 34931975 G A SNP SON ENST00000356577 human ensembl 69_37n +1 known missense c.6551 p.R2184Q 1.000 NULL pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_Ds-RNA-bd - no_errors SON HGNC ENSG00000159140 134 0 0.00 83 19 18.63 - - - SORCS1 0 genome.wustl.edu 37 10 108536424 108536424 + Silent SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 108536424 108536424 A G SNP SORCS1 ENST00000344440 human ensembl 69_37n -1 known silent c.753 p.I251 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 118 0 0.00 108 35 24.48 - - - SOX6 0 genome.wustl.edu 37 11 16068212 16068213 + Frame_Shift_Ins INS - - A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 16068212 16068213 - A INS SOX6 ENST00000352083 human ensembl 69_37n -1 known frame_shift_ins c.1471_1470 p.G490fs 1.000:1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX6 HGNC ENSG00000110693 103 0 0.00 96 16 14.29 - - - SOX7 0 genome.wustl.edu 37 8 10583475 10583475 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 8 10583475 10583475 C T SNP SOX7 ENST00000553390 human ensembl 69_37n -1 known missense c.1096 p.A366T 0.579 pfam_Sox_C_TAD pfam_Sox_C_TAD,pfam_G_patch_dom,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_HMG_superfamily - no_errors SOX7 HGNC ENSG00000171056 40 0 0.00 20 9 31.03 - - - SPAG1 0 genome.wustl.edu 37 8 101237470 101237470 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 8 101237470 101237470 G A SNP SPAG1 ENST00000251809 human ensembl 69_37n +1 known silent c.1758 p.V586 1.000 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SPAG1 HGNC ENSG00000104450 53 0 0.00 29 48 62.34 - - - SPAG8 0 genome.wustl.edu 37 9 35810295 35810295 + Nonsense_Mutation SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 35810295 35810295 G T SNP SPAG8 ENST00000340291 human ensembl 69_37n -1 known nonsense c.1212 p.Y404* 0.959 NULL prints_Antifreeze_1 - no_errors SPAG8 HGNC ENSG00000137098 200 1 0.50 76 11 12.64 - - - SPARCL1 0 genome.wustl.edu 37 4 88411522 88411522 + Silent SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 88411522 88411522 G T SNP SPARCL1 ENST00000282470 human ensembl 69_37n -1 known silent c.1434 p.T478 1.000 pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,smart_Prot_inh_Kazal,pirsf_SPARC-like_p1 pfam_SPARC/Testican_Ca-bd-dom,pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Prot_inh_Kazal,pirsf_SPARC-like_p1,pfscan_EF_HAND_2 - no_errors SPARCL1 HGNC ENSG00000152583 458 0 0.00 382 77 16.78 - - - SPCS3 0 genome.wustl.edu 37 4 177248342 177248342 + Missense_Mutation SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 177248342 177248342 G T SNP SPCS3 ENST00000503362 human ensembl 69_37n +1 known missense c.324 p.K108N 1.000 pfam_SPC22,pirsf_SPC22 pfam_SPC22,pirsf_SPC22 - no_errors SPCS3 HGNC ENSG00000129128 11 0 0.00 14 6 30.00 - - - SPEN 0 genome.wustl.edu 37 1 16255142 16255143 + Frame_Shift_Del DEL GA GA - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 16255142 16255143 GA - DEL SPEN ENST00000375759 human ensembl 69_37n +1 known frame_shift_del c.2407_2408 p.R806fs 0.999:1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 332 1 0.30 233 57 19.52 - - - SPEN 0 genome.wustl.edu 37 1 16258664 16258664 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 16258664 16258664 C T SNP SPEN ENST00000375759 human ensembl 69_37n +1 known missense c.5929 p.P1977S 0.007 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 113 0 0.00 69 22 23.91 - - - SPEN 0 genome.wustl.edu 37 1 16260194 16260194 + Frame_Shift_Del DEL G G - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 16260194 16260194 G - DEL SPEN ENST00000375759 human ensembl 69_37n +1 known frame_shift_del c.7459 p.I2489fs 0.464 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 342 0 0.00 195 58 22.48 - - - SPEN 0 genome.wustl.edu 37 1 16260214 16260214 + Frame_Shift_Del DEL C C - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 16260214 16260214 C - DEL SPEN ENST00000375759 human ensembl 69_37n +1 known frame_shift_del c.7479 p.P2495fs 0.001 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 372 0 0.00 159 131 44.26 - - - SPG21 0 genome.wustl.edu 37 15 65268875 65268875 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 15 65268875 65268875 A G SNP SPG21 ENST00000204566 human ensembl 69_37n -1 known missense c.244 p.W82R 1.000 NULL pfam_AB_hydrolase_1 - no_errors SPG21 HGNC ENSG00000090487 74 0 0.00 30 31 50.82 - - - SPG7 0 genome.wustl.edu 37 16 89623346 89623346 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 16 89623346 89623346 G A SNP SPG7 ENST00000268704 human ensembl 69_37n +1 known missense c.2233 p.A745T 1.000 pfam_Peptidase_M41,tigrfam_FtsH pfam_Peptidase_M41,pfam_ATPase_AAA_core,pfam_Pept_M41_FtsH_extracell,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase,tigrfam_FtsH - no_errors SPG7 HGNC ENSG00000197912 24 0 0.00 10 4 28.57 - - - SPICE1 0 genome.wustl.edu 37 3 113187049 113187049 + Silent SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 113187049 113187049 A G SNP SPICE1 ENST00000295872 human ensembl 69_37n -1 known silent c.1092 p.G364 0.384 NULL NULL - no_errors SPICE1 HGNC ENSG00000163611 118 0 0.00 135 33 19.64 - - - SPIN2B 0 genome.wustl.edu 37 X 57146946 57146946 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c X 57146946 57146946 G A SNP SPIN2B ENST00000275988 human ensembl 69_37n -1 known silent c.117 p.G39 0.523 NULL pfam_Spin_Ssty - no_errors SPIN2B HGNC ENSG00000186787 127 0 0.00 71 20 21.98 - - - SPOCK2 0 genome.wustl.edu 37 10 73822556 73822556 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 73822556 73822556 C T SNP SPOCK2 ENST00000317376 human ensembl 69_37n -1 known missense c.1237 p.E413K 1.000 NULL pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Thyroglobulin_1,smart_Prot_inh_Kazal,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SPOCK2 HGNC ENSG00000107742 61 0 0.00 30 21 41.18 - - - SPRY1 0 genome.wustl.edu 37 4 124323339 124323339 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 124323339 124323339 T C SNP SPRY1 ENST00000339241 human ensembl 69_37n +1 known missense c.593 p.L198P 1.000 pfam_Sprouty pfam_Sprouty - no_errors SPRY1 HGNC ENSG00000164056 147 0 0.00 100 22 18.03 - - - SRGAP2 0 genome.wustl.edu 37 1 206516354 206516355 + Frame_Shift_Del DEL TT TT - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 TT TT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 206516354 206516355 TT - DEL SRGAP2 ENST00000295713 human ensembl 69_37n +1 known frame_shift_del c.155_156 p.*53fs 1.000:1.000 NULL pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_RhoGAP_dom,smart_SH3_domain,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SRGAP2 HGNC ENSG00000163486 179 0 0.00 118 47 28.48 - - - SRGAP3 0 genome.wustl.edu 37 3 9055516 9055516 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 9055516 9055516 G A SNP SRGAP3 ENST00000383836 human ensembl 69_37n -1 known silent c.1824 p.N608 0.985 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP3 HGNC ENSG00000196220 153 0 0.00 121 14 10.37 - - - SRPK2 0 genome.wustl.edu 37 7 104809657 104809657 + Silent SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 7 104809657 104809657 A G SNP SRPK2 ENST00000393651 human ensembl 69_37n -1 known silent c.285 p.I95 0.985 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors SRPK2 HGNC ENSG00000135250 98 0 0.00 86 20 18.87 - - - SRPRB 0 genome.wustl.edu 37 3 133526669 133526669 + Splice_Site SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 133526669 133526669 T C SNP SRPRB ENST00000466490 human ensembl 69_37n +1 known splice_site c.327+2 e3+2 1.000 - - - no_errors SRPRB HGNC ENSG00000144867 78 0 0.00 79 16 16.84 - - - SRPX 0 genome.wustl.edu 37 X 38024061 38024061 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c X 38024061 38024061 G A SNP SRPX ENST00000378533 human ensembl 69_37n -1 known missense c.614 p.T205I 0.999 pfam_Hyalin,pfscan_Hyalin pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP - no_errors SRPX HGNC ENSG00000101955 72 0 0.00 52 42 44.68 - - - SRRM2 0 genome.wustl.edu 37 16 2816577 2816577 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 16 2816577 2816577 C T SNP SRRM2 ENST00000301740 human ensembl 69_37n +1 known silent c.6048 p.R2016 0.997 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 226 0 0.00 157 38 19.49 - - - SS18 0 genome.wustl.edu 37 18 23637702 23637702 + Missense_Mutation SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 18 23637702 23637702 G T SNP SS18 ENST00000415083 human ensembl 69_37n -1 known missense c.236 p.P79H 1.000 NULL pfam_SSXT - no_errors SS18 HGNC ENSG00000141380 55 0 0.00 69 16 18.82 - - - SSH1 0 genome.wustl.edu 37 12 109201438 109201438 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 109201438 109201438 C T SNP SSH1 ENST00000546433 human ensembl 69_37n -1 known missense c.29 p.G10D 1.000 NULL pfam_DEK_C - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SSH1 HGNC ENSG00000084112 73 0 0.00 40 7 14.89 - - - SSR3 0 genome.wustl.edu 37 3 156260929 156260929 + RNA SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 156260929 156260929 C T SNP SSR3 ENST00000478842 human ensembl 69_37n -1 known rna NULL NULL 0.056 - - - no_errors SSR3 HGNC ENSG00000114850 59 0 0.00 52 13 20.00 - - - ST3GAL6 0 genome.wustl.edu 37 3 98512545 98512545 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 98512545 98512545 G A SNP ST3GAL6 ENST00000394162 human ensembl 69_37n +1 known silent c.936 p.E312 0.956 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL6 HGNC ENSG00000064225 163 0 0.00 92 66 41.77 - - - ST6GAL1 0 genome.wustl.edu 37 3 186760990 186760990 + Missense_Mutation SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 186760990 186760990 G T SNP ST6GAL1 ENST00000169298 human ensembl 69_37n +1 known missense c.499 p.G167C 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST6GAL1 HGNC ENSG00000073849 129 0 0.00 107 23 17.69 - - - ST6GAL1 0 genome.wustl.edu 37 3 186790685 186790685 + Nonsense_Mutation SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 186790685 186790685 G T SNP ST6GAL1 ENST00000169298 human ensembl 69_37n +1 known nonsense c.754 p.G252* 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST6GAL1 HGNC ENSG00000073849 226 0 0.00 134 40 22.99 - - - ST6GALNAC1 0 genome.wustl.edu 37 17 74622472 74622472 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 74622472 74622472 G A SNP ST6GALNAC1 ENST00000585633 human ensembl 69_37n -1 known missense c.2 p.T1M 0.120 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ST6GALNAC1 HGNC ENSG00000070526 168 0 0.00 96 17 15.04 - - - ST6GALNAC5 0 genome.wustl.edu 37 1 77510159 77510159 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 77510159 77510159 C T SNP ST6GALNAC5 ENST00000477717 human ensembl 69_37n +1 known missense c.532 p.R178W 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST6GALNAC5 HGNC ENSG00000117069 127 0 0.00 68 16 19.05 - - - ST8SIA3 0 genome.wustl.edu 37 18 55024628 55024628 + Frame_Shift_Del DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 18 55024628 55024628 T - DEL ST8SIA3 ENST00000324000 human ensembl 69_37n +1 known frame_shift_del c.787 p.F264fs 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA3 HGNC ENSG00000177511 127 0 0.00 66 11 14.29 - - - STAB2 0 genome.wustl.edu 37 12 104155174 104155174 + Frame_Shift_Del DEL C C - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 104155174 104155174 C - DEL STAB2 ENST00000388887 human ensembl 69_37n +1 known frame_shift_del c.7345 p.P2450fs 1.000 superfamily_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF_laminin,smart_Prot_inh_squash,smart_EGF-like_Ca-bd,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 61 0 0.00 78 9 10.23 - - - STAT5A 0 genome.wustl.edu 37 17 40458298 40458298 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 40458298 40458298 C T SNP STAT5A ENST00000345506 human ensembl 69_37n +1 known missense c.1513 p.P505S 1.000 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd 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,smart_SH2,pfscan_SH2 - no_errors STAT5A HGNC ENSG00000126561 59 0 0.00 40 19 32.20 - - - STAT5B 0 genome.wustl.edu 37 17 40369266 40369266 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 40369266 40369266 C T SNP STAT5B ENST00000293328 human ensembl 69_37n -1 known missense c.1292 p.G431E 1.000 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd 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,smart_SH2,pfscan_SH2 - no_errors STAT5B HGNC ENSG00000173757 109 1 0.91 70 8 10.26 - - - STK19 0 genome.wustl.edu 37 6 31948532 31948532 + Missense_Mutation SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 31948532 31948532 C A SNP STK19 ENST00000375333 human ensembl 69_37n +1 known missense c.1015 p.L339I 0.993 pfam_Ser/Thr_kinase_19 pfam_Ser/Thr_kinase_19 - no_errors STK19 HGNC ENSG00000204344 56 0 0.00 49 15 23.44 - - - STK32B 0 genome.wustl.edu 37 4 5468441 5468441 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 5468441 5468441 G A SNP STK32B ENST00000282908 human ensembl 69_37n +1 known silent c.921 p.L307 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STK32B HGNC ENSG00000152953 66 0 0.00 38 11 22.45 - - - STK33 0 genome.wustl.edu 37 11 8462223 8462225 + Splice_Site DEL ACA ACA - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 ACA ACA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 8462223 8462225 ACA - DEL STK33 ENST00000315204 human ensembl 69_37n -1 known splice_site_del c.947+2_947+1 e9-1 1.000:1.000:1.000 - - - no_errors STK33 HGNC ENSG00000130413 13 0 0.00 12 6 33.33 - - - STXBP2 0 genome.wustl.edu 37 19 7709526 7709526 + Frame_Shift_Del DEL G G - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 7709526 7709526 G - DEL STXBP2 ENST00000441779 human ensembl 69_37n +1 known frame_shift_del c.1167 p.E391fs 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors STXBP2 HGNC ENSG00000076944 37 0 0.00 17 7 28.00 - - - SUPT5H 0 genome.wustl.edu 37 19 39959803 39959804 + Frame_Shift_Del DEL GA GA - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 39959803 39959804 GA - DEL SUPT5H ENST00000359191 human ensembl 69_37n +1 known frame_shift_del c.1228_1229 p.S411fs 1.000:1.000 pirsf_TF_Spt5 pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N,smart_KOW,pirsf_TF_Spt5 - no_errors SUPT5H HGNC ENSG00000196235 65 0 0.00 52 16 23.53 - - - SUPT5H 0 genome.wustl.edu 37 19 39960834 39960834 + Nonsense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 39960834 39960834 C T SNP SUPT5H ENST00000359191 human ensembl 69_37n +1 known nonsense c.1450 p.R484* 1.000 pfam_KOW,superfamily_Translation_prot_SH3-like,smart_KOW,pirsf_TF_Spt5 pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N,smart_KOW,pirsf_TF_Spt5 - no_errors SUPT5H HGNC ENSG00000196235 268 0 0.00 216 43 16.60 - - - SUSD5 0 genome.wustl.edu 37 3 33194344 33194345 + Frame_Shift_Ins INS - - C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 33194344 33194345 - C INS SUSD5 ENST00000309558 human ensembl 69_37n -1 known frame_shift_ins c.1780_1779 p.M593fs 0.128:0.087 NULL pfam_Link,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Link,pfscan_Link,pfscan_Sushi_SCR_CCP - no_errors SUSD5 HGNC ENSG00000173705 80 0 0.00 40 21 34.43 - - - SUZ12 0 genome.wustl.edu 37 17 30310055 30310055 + Missense_Mutation SNP A A C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 30310055 30310055 A C SNP SUZ12 ENST00000322652 human ensembl 69_37n +1 known missense c.955 p.M319L 1.000 NULL pfam_Polycomb_protein_VEFS-Box - no_errors SUZ12 HGNC ENSG00000178691 182 0 0.00 129 86 39.81 - - - SVIP 0 genome.wustl.edu 37 11 22848802 22848803 + Frame_Shift_Ins INS - - T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 22848802 22848803 - T INS SVIP ENST00000354193 human ensembl 69_37n -1 known frame_shift_ins c.170_169 p.I57fs 0.996:0.987 NULL NULL - no_errors SVIP HGNC ENSG00000198168 156 0 0.00 112 50 30.86 - - - SYAP1 0 genome.wustl.edu 37 X 16753435 16753437 + In_Frame_Del DEL AGA AGA - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c X 16753435 16753437 AGA - DEL SYAP1 ENST00000380155 human ensembl 69_37n +1 known in_frame_del c.261_263 p.E89in_frame_del 0.994:1.000:1.000 NULL pfam_BSD,smart_BSD,pfscan_BSD - no_errors SYAP1 HGNC ENSG00000169895 165 0 0.00 94 49 34.03 - - - SYBU 0 genome.wustl.edu 37 8 110631211 110631211 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 8 110631211 110631211 G A SNP SYBU ENST00000276646 human ensembl 69_37n -1 known missense c.287 p.A96V 0.992 NULL NULL - no_errors SYBU HGNC ENSG00000147642 135 0 0.00 180 37 17.05 - - - SYNCRIP 0 genome.wustl.edu 37 6 86324791 86324791 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 86324791 86324791 C T SNP SYNCRIP ENST00000369622 human ensembl 69_37n -1 known missense c.1555 p.G519S 1.000 tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors SYNCRIP HGNC ENSG00000135316 220 0 0.00 189 52 21.58 - - - SYNCRIP 0 genome.wustl.edu 37 6 86332354 86332354 + Frame_Shift_Del DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 86332354 86332354 T - DEL SYNCRIP ENST00000369622 human ensembl 69_37n -1 known frame_shift_del c.854 p.N285fs 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors SYNCRIP HGNC ENSG00000135316 275 1 0.36 239 125 34.06 - - - SYNE2 0 genome.wustl.edu 37 14 64443312 64443312 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 14 64443312 64443312 C T SNP SYNE2 ENST00000358025 human ensembl 69_37n +1 known missense c.1160 p.A387V 0.008 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 294 2 0.67 263 72 21.49 - - - SYNE3 0 genome.wustl.edu 37 14 95932278 95932278 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 14 95932278 95932278 G A SNP SYNE3 ENST00000334258 human ensembl 69_37n -1 known missense c.617 p.A206V 0.999 NULL pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH - no_errors SYNE3 HGNC ENSG00000176438 39 0 0.00 30 8 21.05 - - - SYT13 0 genome.wustl.edu 37 11 45274267 45274267 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 45274267 45274267 G A SNP SYT13 ENST00000020926 human ensembl 69_37n -1 known missense c.551 p.T184I 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors SYT13 HGNC ENSG00000019505 99 0 0.00 67 11 14.10 - - - SYT6 0 genome.wustl.edu 37 1 114682359 114682359 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 114682359 114682359 C T SNP SYT6 ENST00000369545 human ensembl 69_37n -1 known silent c.390 p.A130 0.895 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom - no_errors SYT6 HGNC ENSG00000134207 51 0 0.00 25 14 35.90 - - - SZT2 0 genome.wustl.edu 37 1 43888866 43888866 + Frame_Shift_Del DEL G G - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 43888866 43888866 G - DEL SZT2 ENST00000562955 human ensembl 69_37n +1 known frame_shift_del c.2134 p.G713fs 0.946 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 28 0 0.00 7 13 56.52 - - - SZT2 0 genome.wustl.edu 37 1 43895456 43895456 + Missense_Mutation SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 43895456 43895456 C A SNP SZT2 ENST00000562955 human ensembl 69_37n +1 known missense c.4078 p.L1360M 1.000 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 149 0 0.00 61 20 24.69 - - - SZT2 0 genome.wustl.edu 37 1 43906183 43906183 + Frame_Shift_Del DEL C C - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 43906183 43906183 C - DEL SZT2 ENST00000562955 human ensembl 69_37n +1 known frame_shift_del c.7099 p.P2368fs 0.999 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 183 0 0.00 72 12 14.12 - - - TAAR2 0 genome.wustl.edu 37 6 132938709 132938709 + Silent SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 132938709 132938709 G T SNP TAAR2 ENST00000367931 human ensembl 69_37n -1 known silent c.636 p.T212 0.875 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Trace_amine_rcpt - no_errors TAAR2 HGNC ENSG00000146378 254 0 0.00 192 38 16.52 - - - TAF1L 0 genome.wustl.edu 37 9 32633582 32633582 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 32633582 32633582 C T SNP TAF1L ENST00000242310 human ensembl 69_37n -1 known missense c.1996 p.A666T 1.000 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 290 0 0.00 192 64 24.90 - - - TAF1L 0 genome.wustl.edu 37 9 32633584 32633584 + Frame_Shift_Del DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 32633584 32633584 T - DEL TAF1L ENST00000242310 human ensembl 69_37n -1 known frame_shift_del c.1994 p.K665fs 1.000 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 283 0 0.00 191 63 24.61 - - - TANC2 0 genome.wustl.edu 37 17 61432175 61432175 + Frame_Shift_Del DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 61432175 61432175 T - DEL TANC2 ENST00000424789 human ensembl 69_37n +1 known frame_shift_del c.1784 p.L597fs 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC2 HGNC ENSG00000170921 402 1 0.25 331 169 33.40 - - - TAS2R19 0 genome.wustl.edu 37 12 11174586 11174586 + Frame_Shift_Del DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 11174586 11174586 A - DEL TAS2R19 ENST00000390673 human ensembl 69_37n -1 known frame_shift_del c.585 p.L196fs 0.003 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R19 HGNC ENSG00000212124 337 0 0.00 298 57 15.92 - - - TAS2R3 0 genome.wustl.edu 37 7 141464825 141464825 + Silent SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 7 141464825 141464825 T C SNP TAS2R3 ENST00000247879 human ensembl 69_37n +1 known silent c.867 p.S289 0.001 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R3 HGNC ENSG00000127362 324 0 0.00 216 101 31.86 - - - TAS2R31 0 genome.wustl.edu 37 12 11183780 11183780 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 11183780 11183780 G A SNP TAS2R31 ENST00000390675 human ensembl 69_37n -1 known missense c.155 p.A52V 0.009 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R31 HGNC ENSG00000256436 326 0 0.00 326 72 18.09 - - - TAX1BP1 0 genome.wustl.edu 37 7 27827107 27827107 + Missense_Mutation SNP A A T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 7 27827107 27827107 A T SNP TAX1BP1 ENST00000396319 human ensembl 69_37n +1 known missense c.923 p.D308V 1.000 pfam_CoCoA pfam_CoCoA - no_errors TAX1BP1 HGNC ENSG00000106052 126 0 0.00 109 15 12.10 - - - TBC1D12 0 genome.wustl.edu 37 10 96253157 96253157 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 96253157 96253157 G A SNP TBC1D12 ENST00000225235 human ensembl 69_37n +1 known missense c.1247 p.R416H 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D12 HGNC ENSG00000108239 133 0 0.00 104 29 21.80 - - - TBC1D2 0 genome.wustl.edu 37 9 100962587 100962587 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 100962587 100962587 G A SNP TBC1D2 ENST00000375066 human ensembl 69_37n -1 known silent c.2494 p.L832 0.915 superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D2 HGNC ENSG00000095383 55 0 0.00 15 10 40.00 - - - TBC1D22B 0 genome.wustl.edu 37 6 37281638 37281638 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 37281638 37281638 C T SNP TBC1D22B ENST00000373491 human ensembl 69_37n +1 known missense c.1136 p.A379V 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D22B HGNC ENSG00000065491 170 0 0.00 166 22 11.70 - - - TBC1D25 0 genome.wustl.edu 37 X 48419226 48419226 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c X 48419226 48419226 G A SNP TBC1D25 ENST00000376771 human ensembl 69_37n +1 known missense c.1930 p.A644T 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D25 HGNC ENSG00000068354 77 0 0.00 31 25 44.64 - - - TBC1D4 0 genome.wustl.edu 37 13 75933922 75933922 + Missense_Mutation SNP T T A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 13 75933922 75933922 T A SNP TBC1D4 ENST00000377636 human ensembl 69_37n -1 known missense c.1153 p.I385F 1.000 pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D4 HGNC ENSG00000136111 103 0 0.00 111 27 19.42 - - - TBC1D5 0 genome.wustl.edu 37 3 17469985 17469987 + In_Frame_Del DEL TTC TTC - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 17469985 17469987 TTC - DEL TBC1D5 ENST00000253692 human ensembl 69_37n -1 known in_frame_del c.124_122 p.R41in_frame_del 0.987:1.000:1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D5 HGNC ENSG00000131374 49 0 0.00 31 9 22.50 - - - TBC1D5 0 genome.wustl.edu 37 3 17469996 17469996 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 17469996 17469996 T C SNP TBC1D5 ENST00000253692 human ensembl 69_37n -1 known missense c.113 p.N38S 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D5 HGNC ENSG00000131374 55 0 0.00 25 15 37.50 - - - TBC1D9B 0 genome.wustl.edu 37 5 179297324 179297324 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 179297324 179297324 G A SNP TBC1D9B ENST00000356834 human ensembl 69_37n -1 known missense c.2656 p.R886C 0.993 pfscan_EF_HAND_2 pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9B HGNC ENSG00000197226 29 0 0.00 7 8 53.33 - - - TBC1D9B 0 genome.wustl.edu 37 5 179318453 179318453 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 179318453 179318453 A G SNP TBC1D9B ENST00000356834 human ensembl 69_37n -1 known missense c.970 p.F324L 1.000 pfam_GRAM,smart_GRAM pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9B HGNC ENSG00000197226 55 0 0.00 24 19 44.19 - - - TBR1 0 genome.wustl.edu 37 2 162273179 162273180 + Frame_Shift_Ins INS - - T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 162273179 162273180 - T INS TBR1 ENST00000389554 human ensembl 69_37n +1 known frame_shift_ins c.258_259 p.L86fs 1.000:1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBR1 HGNC ENSG00000136535 161 0 0.00 81 25 23.58 - - - TCEA2 0 genome.wustl.edu 37 20 62703329 62703329 + RNA SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 20 62703329 62703329 C T SNP TCEA2 ENST00000461072 human ensembl 69_37n +1 known rna NULL NULL 0.005 - - - no_errors TCEA2 HGNC ENSG00000171703 33 0 0.00 12 8 40.00 - - - TCF20 0 genome.wustl.edu 37 22 42610948 42610948 + Frame_Shift_Del DEL G G - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 22 42610948 42610948 G - DEL TCF20 ENST00000359486 human ensembl 69_37n -1 known frame_shift_del c.364 p.Q122fs 1.000 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 255 0 0.00 156 33 16.92 - - - TCF4 0 genome.wustl.edu 37 18 52895520 52895520 + Frame_Shift_Del DEL G G - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 18 52895520 52895520 G - DEL TCF4 ENST00000398339 human ensembl 69_37n -1 known frame_shift_del c.2258 p.P753fs 1.000 superfamily_HLH_DNA-bd pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors TCF4 HGNC ENSG00000196628 80 0 0.00 52 40 43.48 - - - TDG 0 genome.wustl.edu 37 12 104380669 104380669 + RNA DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 104380669 104380669 A - DEL TDG ENST00000536395 human ensembl 69_37n +1 putative rna NULL NULL 0.009 - - - no_errors TDG HGNC ENSG00000139372 112 0 0.00 108 16 12.80 - - - TDRD6 0 genome.wustl.edu 37 6 46658264 46658265 + Frame_Shift_Del DEL CT CT - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 46658264 46658265 CT - DEL TDRD6 ENST00000316081 human ensembl 69_37n +1 known frame_shift_del c.2399_2400 p.L801fs 0.000:0.000 pfam_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 112 0 0.00 72 15 17.05 - - - TDRD7 0 genome.wustl.edu 37 9 100242710 100242711 + RNA DEL TT TT - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 TT TT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 100242710 100242711 TT - DEL TDRD7 ENST00000492428 human ensembl 69_37n +1 known rna NULL NULL 0.001:0.001 - - - no_errors TDRD7 HGNC ENSG00000196116 9 0 0.00 4 2 33.33 - - - TEAD2 0 genome.wustl.edu 37 19 49850473 49850473 + Frame_Shift_Del DEL G G - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 49850473 49850473 G - DEL TEAD2 ENST00000377214 human ensembl 69_37n -1 known frame_shift_del c.892 p.H298fs 0.961 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD2 HGNC ENSG00000074219 111 1 0.88 79 28 25.45 - - - TECTA 0 genome.wustl.edu 37 11 121023639 121023639 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 121023639 121023639 C T SNP TECTA ENST00000264037 human ensembl 69_37n +1 known silent c.4155 p.C1385 1.000 pfam_TIL_dom,superfamily_TIL_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_Zona_pellucida_Endoglin/CD105,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105 - no_errors TECTA HGNC ENSG00000109927 69 0 0.00 39 22 36.07 - - - TEK 0 genome.wustl.edu 37 9 27185545 27185545 + Frame_Shift_Del DEL C C - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 27185545 27185545 C - DEL TEK ENST00000380036 human ensembl 69_37n +1 known frame_shift_del c.1245 p.P417fs 0.001 pfscan_Ig-like pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TEK HGNC ENSG00000120156 192 0 0.00 122 27 17.53 - - - TFDP2 0 genome.wustl.edu 37 3 141678557 141678557 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 141678557 141678557 G A SNP TFDP2 ENST00000489671 human ensembl 69_37n -1 known missense c.1010 p.A337V 1.000 pfam_Transc_factor_DP_C,pirsf_Transcription_factor_DP_subgr pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcription_factor_DP_subgr - no_errors TFDP2 HGNC ENSG00000114126 219 0 0.00 218 45 17.11 - - - TG 0 genome.wustl.edu 37 8 133984896 133984898 + In_Frame_Del DEL GAG GAG - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 8 133984896 133984898 GAG - DEL TG ENST00000220616 human ensembl 69_37n +1 known in_frame_del c.6109_6111 p.E2038in_frame_del 0.996:0.998:0.988 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 154 0 0.00 113 41 26.62 - - - TGFBR3 0 genome.wustl.edu 37 1 92185763 92185763 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 92185763 92185763 A G SNP TGFBR3 ENST00000212355 human ensembl 69_37n -1 known missense c.1100 p.V367A 1.000 NULL pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr - no_errors TGFBR3 HGNC ENSG00000069702 71 0 0.00 54 13 19.40 - - - TGIF2 0 genome.wustl.edu 37 20 35219312 35219312 + Splice_Site SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 20 35219312 35219312 G T SNP TGIF2 ENST00000373872 human ensembl 69_37n +1 known splice_site c.193-1 e2-1 1.000 - - - no_errors TGIF2 HGNC ENSG00000118707 158 0 0.00 140 20 12.50 - - - TGM6 0 genome.wustl.edu 37 20 2378600 2378600 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 20 2378600 2378600 C T SNP TGM6 ENST00000202625 human ensembl 69_37n +1 known silent c.580 p.L194 1.000 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM6 HGNC ENSG00000166948 114 0 0.00 59 41 41.00 - - - THBD 0 genome.wustl.edu 37 20 23029049 23029049 + Missense_Mutation SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 20 23029049 23029049 G T SNP THBD ENST00000377103 human ensembl 69_37n -1 known missense c.1093 p.P365T 0.065 pirsf_CD93/CD141,smart_EGF-like_Ca-bd,prints_Thrombomodulin pirsf_CD93/CD141,pfam_Tme5_EGF-like,pfam_EGF-like_Ca-bd,superfamily_C-type_lectin_fold,smart_C-type_lectin,smart_EGF-like,smart_EGF-like_Ca-bd,prints_Thrombomodulin,pfscan_C-type_lectin - no_errors THBD HGNC ENSG00000178726 21 0 0.00 7 11 61.11 - - - THBS1 0 genome.wustl.edu 37 15 39885831 39885831 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 15 39885831 39885831 C T SNP THBS1 ENST00000260356 human ensembl 69_37n +1 known missense c.3229 p.R1077W 1.000 pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS1 HGNC ENSG00000137801 157 0 0.00 84 34 28.81 - - - THNSL2 0 genome.wustl.edu 37 2 88482314 88482315 + Frame_Shift_Del DEL TC TC - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 TC TC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 88482314 88482315 TC - DEL THNSL2 ENST00000324166 human ensembl 69_37n +1 known frame_shift_del c.899_900 p.S303fs 1.000:1.000 pfam_PyrdxlP-dep_enz_bsu,superfamily_PyrdxlP-dep_enz_bsu,tigrfam_Thr_synthase pfam_PyrdxlP-dep_enz_bsu,superfamily_PyrdxlP-dep_enz_bsu,tigrfam_Thr_synthase - no_errors THNSL2 HGNC ENSG00000144115 58 0 0.00 48 11 18.64 - - - THPO 0 genome.wustl.edu 37 3 184090882 184090882 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 184090882 184090882 G A SNP THPO ENST00000204615 human ensembl 69_37n -1 known missense c.481 p.R161C 1.000 pfam_EPO_TPO,superfamily_4_helix_cytokine-like_core pfam_EPO_TPO,superfamily_4_helix_cytokine-like_core,prints_Thrombopoeitin - no_errors THPO HGNC ENSG00000090534 85 0 0.00 29 22 43.14 - - - TIMP3 0 genome.wustl.edu 37 22 33245470 33245470 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 22 33245470 33245470 G A SNP TIMP3 ENST00000266085 human ensembl 69_37n +1 known silent c.153 p.L51 1.000 pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain - no_errors TIMP3 HGNC ENSG00000100234 21 0 0.00 15 4 21.05 - - - TIPARP 0 genome.wustl.edu 37 3 156395578 156395580 + In_Frame_Del DEL AGA AGA - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 156395578 156395580 AGA - DEL TIPARP ENST00000295924 human ensembl 69_37n +1 known in_frame_del c.92_94 p.K32in_frame_del 1.000:1.000:1.000 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors TIPARP HGNC ENSG00000163659 96 0 0.00 51 28 35.44 - - - TJAP1 0 genome.wustl.edu 37 6 43472634 43472634 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 43472634 43472634 C T SNP TJAP1 ENST00000372445 human ensembl 69_37n +1 known missense c.715 p.P239S 1.000 NULL NULL - no_errors TJAP1 HGNC ENSG00000137221 110 0 0.00 68 8 10.53 - - - TLR4 0 genome.wustl.edu 37 9 120476789 120476789 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 120476789 120476789 C T SNP TLR4 ENST00000355622 human ensembl 69_37n +1 known silent c.2383 p.L795 1.000 pirsf_Toll-like_receptor,pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR4 HGNC ENSG00000136869 110 0 0.00 83 22 20.95 - - - TLR8 0 genome.wustl.edu 37 X 12939570 12939570 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c X 12939570 12939570 C T SNP TLR8 ENST00000218032 human ensembl 69_37n +1 known missense c.2411 p.A804V 0.034 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR8 HGNC ENSG00000101916 276 0 0.00 168 67 28.51 - - - TMEM100 0 genome.wustl.edu 37 17 53798167 53798167 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 53798167 53798167 C T SNP TMEM100 ENST00000424486 human ensembl 69_37n -1 known missense c.265 p.G89S 1.000 NULL NULL - no_errors TMEM100 HGNC ENSG00000166292 301 0 0.00 257 59 18.61 - - - TMEM132B 0 genome.wustl.edu 37 12 125834236 125834236 + Frame_Shift_Del DEL C C - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 125834236 125834236 C - DEL TMEM132B ENST00000299308 human ensembl 69_37n +1 known frame_shift_del c.291 p.Q99fs 0.287 NULL NULL - no_errors TMEM132B HGNC ENSG00000139364 279 0 0.00 236 48 16.67 - - - TMEM132E 0 genome.wustl.edu 37 17 32957153 32957153 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 32957153 32957153 A G SNP TMEM132E ENST00000321639 human ensembl 69_37n +1 known missense c.1195 p.N399D 1.000 NULL NULL - no_errors TMEM132E HGNC ENSG00000181291 48 0 0.00 24 8 25.00 - - - TMEM145 0 genome.wustl.edu 37 19 42819357 42819357 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 42819357 42819357 G A SNP TMEM145 ENST00000301204 human ensembl 69_37n +1 known missense c.523 p.V175M 1.000 pfam_Rhodopsin-like_GPCR_TM_domain pfam_Rhodopsin-like_GPCR_TM_domain - no_errors TMEM145 HGNC ENSG00000167619 160 0 0.00 109 25 18.66 - - - TMEM147 0 genome.wustl.edu 37 19 36038064 36038064 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 36038064 36038064 G A SNP TMEM147 ENST00000222284 human ensembl 69_37n +1 known missense c.473 p.R158H 1.000 pfam_DUF2053_membrane pfam_DUF2053_membrane - no_errors TMEM147 HGNC ENSG00000105677 55 0 0.00 31 11 26.19 - - - TMEM171 0 genome.wustl.edu 37 5 72419566 72419566 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 72419566 72419566 C T SNP TMEM171 ENST00000454765 human ensembl 69_37n +1 known silent c.366 p.S122 0.837 NULL NULL - no_errors TMEM171 HGNC ENSG00000157111 75 0 0.00 44 7 13.73 - - - TMEM173 0 genome.wustl.edu 37 5 138857986 138857986 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 138857986 138857986 C T SNP TMEM173 ENST00000330794 human ensembl 69_37n -1 known missense c.628 p.D210N 1.000 NULL NULL - no_errors TMEM173 HGNC ENSG00000184584 183 0 0.00 80 92 53.18 - - - TMEM174 0 genome.wustl.edu 37 5 72469364 72469364 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 72469364 72469364 C T SNP TMEM174 ENST00000296776 human ensembl 69_37n +1 known silent c.294 p.C98 0.997 NULL NULL - no_errors TMEM174 HGNC ENSG00000164325 173 0 0.00 79 28 26.17 - - - TMEM39A 0 genome.wustl.edu 37 3 119176962 119176962 + Frame_Shift_Del DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 119176962 119176962 A - DEL TMEM39A ENST00000319172 human ensembl 69_37n -1 known frame_shift_del c.239 p.F80fs 1.000 pfam_Uncharacterised_TMEM39 pfam_Uncharacterised_TMEM39 - no_errors TMEM39A HGNC ENSG00000176142 98 0 0.00 101 14 11.97 - - - TMEM54 0 genome.wustl.edu 37 1 33363729 33363729 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 33363729 33363729 C T SNP TMEM54 ENST00000373463 human ensembl 69_37n -1 known missense c.208 p.V70M 1.000 pfam_Beta-casein-like pfam_Beta-casein-like - no_errors TMEM54 HGNC ENSG00000121900 67 0 0.00 13 10 43.48 - - - TMEM74 0 genome.wustl.edu 37 8 109796918 109796918 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 8 109796918 109796918 C T SNP TMEM74 ENST00000297459 human ensembl 69_37n -1 known missense c.410 p.G137E 0.014 NULL NULL - no_errors TMEM74 HGNC ENSG00000164841 99 0 0.00 91 18 16.51 - - - TMEM97 0 genome.wustl.edu 37 17 26653807 26653807 + Frame_Shift_Del DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 26653807 26653807 A - DEL TMEM97 ENST00000226230 human ensembl 69_37n +1 known frame_shift_del c.519 p.K176fs 1.000 pirsf_Transmembrane_6/97 pfam_Transmembrane_6/97,pirsf_Transmembrane_6/97 - no_errors TMEM97 HGNC ENSG00000109084 98 0 0.00 66 33 32.04 - - - TMPRSS7 0 genome.wustl.edu 37 3 111795940 111795940 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 111795940 111795940 C T SNP TMPRSS7 ENST00000419127 human ensembl 69_37n +1 known missense c.1795 p.R599C 0.056 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_SEA,pfam_LDrepeatLR_classA_rpt,pfam_CUB,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TMPRSS7 HGNC ENSG00000176040 189 0 0.00 160 40 20.00 - - - TMSB15A 0 genome.wustl.edu 37 X 101770012 101770012 + Frame_Shift_Del DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c X 101770012 101770012 T - DEL TMSB15A ENST00000289373 human ensembl 69_37n -1 known frame_shift_del c.80 p.N27fs 0.981 pfam_Thymosin_b4,smart_Thymosin_b4,pirsf_Thymosin_b4_chordata pfam_Thymosin_b4,smart_Thymosin_b4,pirsf_Thymosin_b4_chordata - no_errors TMSB15A HGNC ENSG00000158164 386 1 0.26 200 81 28.42 - - - TNC 0 genome.wustl.edu 37 9 117825465 117825465 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 117825465 117825465 T C SNP TNC ENST00000350763 human ensembl 69_37n -1 known missense c.3764 p.E1255G 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC ENSG00000041982 104 0 0.00 91 27 22.88 - - - TNFSF8 0 genome.wustl.edu 37 9 117666356 117666356 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 117666356 117666356 T C SNP TNFSF8 ENST00000223795 human ensembl 69_37n -1 known missense c.560 p.Y187C 0.998 pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pirsf_TNF_CD30_ligand_type,pfscan_TNF pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pirsf_TNF_CD30_ligand_type,pfscan_TNF - no_errors TNFSF8 HGNC ENSG00000106952 301 0 0.00 170 102 37.50 - - - TNKS 0 genome.wustl.edu 37 8 9623846 9623848 + In_Frame_Del DEL CTC CTC - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 8 9623846 9623848 CTC - DEL TNKS ENST00000310430 human ensembl 69_37n +1 known in_frame_del c.3651_3653 p.S1219in_frame_del 0.993:1.000:1.000 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors TNKS HGNC ENSG00000173273 41 0 0.00 56 8 12.50 - - - TNN 0 genome.wustl.edu 37 1 175092592 175092592 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 175092592 175092592 G A SNP TNN ENST00000239462 human ensembl 69_37n +1 known missense c.2707 p.V903I 0.001 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 493 0 0.00 509 76 12.97 - - - TNPO3 0 genome.wustl.edu 37 7 128641146 128641146 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 7 128641146 128641146 T C SNP TNPO3 ENST00000393245 human ensembl 69_37n -1 known missense c.839 p.Y280C 1.000 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold - no_errors TNPO3 HGNC ENSG00000064419 242 0 0.00 264 34 11.41 - - - TNRC6A 0 genome.wustl.edu 37 16 24831653 24831653 + Missense_Mutation SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 16 24831653 24831653 G T SNP TNRC6A ENST00000395799 human ensembl 69_37n +1 known missense c.5274 p.W1758C 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC ENSG00000090905 105 0 0.00 104 25 19.38 - - - TNS3 0 genome.wustl.edu 37 7 47408022 47408022 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 7 47408022 47408022 G A SNP TNS3 ENST00000311160 human ensembl 69_37n -1 known missense c.2221 p.R741W 0.004 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC ENSG00000136205 77 0 0.00 44 16 26.67 - - - TOM1L2 0 genome.wustl.edu 37 17 17772753 17772753 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 17772753 17772753 C T SNP TOM1L2 ENST00000379504 human ensembl 69_37n -1 known missense c.812 p.R271H 1.000 pfam_GAT,pirsf_TOM1,pfscan_GAT pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS - no_errors TOM1L2 HGNC ENSG00000175662 59 0 0.00 39 15 27.78 - - - TOP2A 0 genome.wustl.edu 37 17 38557207 38557207 + Silent SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 38557207 38557207 A G SNP TOP2A ENST00000423485 human ensembl 69_37n -1 known silent c.2559 p.A853 0.513 pfam_Topo_IIA_A/C,superfamily_Topo_IIA_cen,smart_Topo_IIA_A/C pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_ATPase-like_ATP-bd,superfamily_Topo_IIA_cen,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_CBFA/NFYB_topo - no_errors TOP2A HGNC ENSG00000131747 255 0 0.00 258 65 20.12 - - - TOPBP1 0 genome.wustl.edu 37 3 133358937 133358937 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 133358937 133358937 C T SNP TOPBP1 ENST00000260810 human ensembl 69_37n -1 known missense c.2099 p.R700H 0.987 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TOPBP1 HGNC ENSG00000163781 112 0 0.00 99 40 28.78 - - - TP53BP1 0 genome.wustl.edu 37 15 43739559 43739559 + RNA SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 15 43739559 43739559 C T SNP TP53BP1 ENST00000414758 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors TP53BP1 HGNC ENSG00000067369 81 0 0.00 65 24 26.97 - - - TPTE 0 genome.wustl.edu 37 21 10933936 10933936 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 21 10933936 10933936 T C SNP TPTE ENST00000361285 human ensembl 69_37n -1 known missense c.943 p.M315V 1.000 pfam_Dual-sp_phosphatase_cat-dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 667 0 0.00 621 79 11.29 - - - TRBV5-4 0 genome.wustl.edu 37 7 142168597 142168597 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 7 142168597 142168597 G A SNP TRBV5-4 ENST00000454561 human ensembl 69_37n -1 known silent c.126 p.C42 0.121 pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon:bad_bp_length_for_coding_region TRBV5-4 HGNC ENSG00000230099 262 0 0.00 212 44 17.19 - - - TRIM26 0 genome.wustl.edu 37 6 30153672 30153672 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 30153672 30153672 C T SNP TRIM26 ENST00000437089 human ensembl 69_37n -1 known missense c.1601 p.R534H 0.027 superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM26 HGNC ENSG00000234127 35 0 0.00 43 7 14.00 - - - TRIM39 0 genome.wustl.edu 37 6 30309645 30309645 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 30309645 30309645 C T SNP TRIM39 ENST00000376656 human ensembl 69_37n +1 known missense c.1166 p.T389I 1.000 superfamily_ConA-like_lec_gl,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,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 TRIM39 HGNC ENSG00000204599 93 0 0.00 44 10 18.52 - - - TRIM42 0 genome.wustl.edu 37 3 140401472 140401472 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 140401472 140401472 G A SNP TRIM42 ENST00000286349 human ensembl 69_37n +1 known silent c.510 p.L170 0.980 pfscan_Znf_RING pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM42 HGNC ENSG00000155890 92 0 0.00 82 20 19.61 - - - TRIM48 0 genome.wustl.edu 37 11 55035844 55035844 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 55035844 55035844 T C SNP TRIM48 ENST00000417545 human ensembl 69_37n +1 known missense c.574 p.Y192H 0.183 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM48 HGNC ENSG00000150244 77 0 0.00 99 19 16.10 - - - TRIM7 0 genome.wustl.edu 37 5 180630381 180630381 + RNA SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 180630381 180630381 C T SNP TRIM7 ENST00000509199 human ensembl 69_37n -1 putative rna NULL NULL 0.086 - - - no_errors TRIM7 HGNC ENSG00000146054 54 0 0.00 36 4 10.00 - - - TRMT12 0 genome.wustl.edu 37 8 125463370 125463370 + Nonsense_Mutation SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 8 125463370 125463370 G T SNP TRMT12 ENST00000328599 human ensembl 69_37n +1 known nonsense c.202 p.E68* 0.961 NULL pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors TRMT12 HGNC ENSG00000183665 66 0 0.00 32 58 64.44 - - - TROVE2 0 genome.wustl.edu 37 1 193053997 193053997 + RNA DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 193053997 193053997 A - DEL TROVE2 ENST00000432079 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors TROVE2 HGNC ENSG00000116747 34 0 0.00 20 21 43.75 - - - TRPC1 0 genome.wustl.edu 37 3 142503808 142503808 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 142503808 142503808 A G SNP TRPC1 ENST00000476941 human ensembl 69_37n +1 known missense c.1223 p.Y408C 1.000 tigrfam_TRP_channel pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC1 HGNC ENSG00000144935 93 0 0.00 94 14 12.96 - - - TRPC1 0 genome.wustl.edu 37 3 142521187 142521187 + Splice_Site SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 142521187 142521187 G A SNP TRPC1 ENST00000476941 human ensembl 69_37n +1 known splice_site c.1757+1 e10+1 1.000 - - - no_errors TRPC1 HGNC ENSG00000144935 99 0 0.00 85 41 32.54 - - - TRPC6 0 genome.wustl.edu 37 11 101341944 101341944 + Frame_Shift_Del DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 101341944 101341944 T - DEL TRPC6 ENST00000344327 human ensembl 69_37n -1 known frame_shift_del c.2379 p.G794fs 0.992 tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC6 HGNC ENSG00000137672 286 0 0.00 206 120 36.36 - - - TRPC7 0 genome.wustl.edu 37 5 135551913 135551913 + Nonsense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 135551913 135551913 G A SNP TRPC7 ENST00000502753 human ensembl 69_37n -1 novel nonsense c.2227 p.Q743* 1.000 superfamily_ARM-type_fold,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TRPC7 HGNC ENSG00000069018 16 0 0.00 6 4 40.00 - - - TRPV4 0 genome.wustl.edu 37 12 110236432 110236432 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 110236432 110236432 G A SNP TRPV4 ENST00000261740 human ensembl 69_37n -1 known missense c.1139 p.T380M 0.972 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,prints_TRPV4_channel,tigrfam_TRP_channel - no_errors TRPV4 HGNC ENSG00000111199 38 0 0.00 19 9 32.14 - - - TSEN34 0 genome.wustl.edu 37 19 54695601 54695601 + Missense_Mutation SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 54695601 54695601 G T SNP TSEN34 ENST00000429671 human ensembl 69_37n +1 known missense c.273 p.E91D 0.957 pirsf_tRNA_splic_SEN34 pfam_tRNA_intron_Endonuc_cat-like,superfamily_tRNA_intron_Endonuc_cat-like,pirsf_tRNA_splic_SEN34,tigrfam_tRNA_splic - no_errors TSEN34 HGNC ENSG00000170892 107 0 0.00 70 15 17.65 - - - TSGA10 0 genome.wustl.edu 37 2 99722093 99722093 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 99722093 99722093 G A SNP TSGA10 ENST00000355053 human ensembl 69_37n -1 known missense c.278 p.T93M 1.000 NULL NULL - no_errors TSGA10 HGNC ENSG00000135951 448 0 0.00 367 144 28.18 - - - TSHZ1 0 genome.wustl.edu 37 18 72999170 72999170 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 18 72999170 72999170 C T SNP TSHZ1 ENST00000580243 human ensembl 69_37n +1 known missense c.1808 p.P603L 0.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors TSHZ1 HGNC ENSG00000179981 37 0 0.00 33 6 15.38 - - - TSPAN11 0 genome.wustl.edu 37 12 31131548 31131548 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 31131548 31131548 T C SNP TSPAN11 ENST00000261177 human ensembl 69_37n +1 known missense c.329 p.L110P 1.000 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN11 HGNC ENSG00000110900 96 0 0.00 64 14 17.95 - - - TSSK1B 0 genome.wustl.edu 37 5 112769462 112769462 + Frame_Shift_Del DEL G G - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 112769462 112769462 G - DEL TSSK1B ENST00000390666 human ensembl 69_37n -1 known frame_shift_del c.1075 p.Q359fs 0.005 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TSSK1B HGNC ENSG00000212122 37 0 0.00 15 8 32.00 - - - TSSK6 0 genome.wustl.edu 37 19 19625640 19625640 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 19625640 19625640 G A SNP TSSK6 ENST00000360913 human ensembl 69_37n -1 known silent c.597 p.G199 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 TSSK6 HGNC ENSG00000178093 21 0 0.00 4 4 50.00 - - - TTC18 0 genome.wustl.edu 37 10 75114498 75114498 + Silent SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 75114498 75114498 A G SNP TTC18 ENST00000310715 human ensembl 69_37n -1 known silent c.57 p.Y19 1.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC18 HGNC ENSG00000156042 73 0 0.00 84 25 22.73 - - - TTLL4 0 genome.wustl.edu 37 2 219616427 219616427 + Missense_Mutation SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 219616427 219616427 C A SNP TTLL4 ENST00000258398 human ensembl 69_37n +1 known missense c.2874 p.S958R 0.312 NULL pfam_Tub_tyr_ligase - no_errors TTLL4 HGNC ENSG00000135912 125 0 0.00 96 13 11.93 - - - TTLL5 0 genome.wustl.edu 37 14 76173408 76173408 + Silent SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 14 76173408 76173408 T C SNP TTLL5 ENST00000298832 human ensembl 69_37n +1 known silent c.633 p.I211 1.000 pfam_Tub_tyr_ligase pfam_Tub_tyr_ligase - no_errors TTLL5 HGNC ENSG00000119685 192 0 0.00 155 40 20.51 - - - TTN 0 genome.wustl.edu 37 2 179415916 179415916 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 179415916 179415916 G A SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.83638 p.R27880C 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 53 0 0.00 43 11 20.37 - - - TTN 0 genome.wustl.edu 37 2 179468880 179468880 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 179468880 179468880 G A SNP TTN ENST00000342992 human ensembl 69_37n -1 known silent c.46830 p.R15610 0.980 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 210 0 0.00 183 35 16.06 - - - TTN 0 genome.wustl.edu 37 2 179597327 179597327 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 179597327 179597327 G A SNP TTN ENST00000342992 human ensembl 69_37n -1 known silent c.12729 p.N4243 0.996 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like 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 72 0 0.00 74 21 22.11 - - - TTN 0 genome.wustl.edu 37 2 179621104 179621104 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 179621104 179621104 A G SNP TTN ENST00000342175 human ensembl 69_37n -1 known missense c.10586 p.I3529T 0.005 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,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 115 0 0.00 118 36 23.38 - - - TULP4 0 genome.wustl.edu 37 6 158900957 158900957 + Frame_Shift_Del DEL C C - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 158900957 158900957 C - DEL TULP4 ENST00000367097 human ensembl 69_37n +1 known frame_shift_del c.1201 p.R403fs 1.000 pfam_SOCS_C,superfamily_Tumour_necrosis_fac-like,smart_SOCS_C,pfscan_SOCS_C pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC ENSG00000130338 81 0 0.00 94 16 13.68 - - - TULP4 0 genome.wustl.edu 37 6 158924637 158924637 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 158924637 158924637 C T SNP TULP4 ENST00000367097 human ensembl 69_37n +1 known silent c.3942 p.N1314 1.000 NULL pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC ENSG00000130338 69 0 0.00 30 8 21.05 - - - TXNDC2 0 genome.wustl.edu 37 18 9888090 9888090 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 18 9888090 9888090 C T SNP TXNDC2 ENST00000306084 human ensembl 69_37n +1 known silent c.1614 p.C538 0.868 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,pfam_Glutenin,superfamily_Thioredoxin-like_fold - no_errors TXNDC2 HGNC ENSG00000168454 88 0 0.00 62 15 19.48 - - - TXNDC5 0 genome.wustl.edu 37 6 7904872 7904872 + Silent SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 7904872 7904872 C A SNP TXNDC5 ENST00000379757 human ensembl 69_37n -1 known silent c.348 p.V116 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Disulphide_isomerase - no_errors TXNDC5 HGNC ENSG00000239264 96 0 0.00 43 5 10.42 - - - TYRP1 0 genome.wustl.edu 37 9 12709118 12709118 + Missense_Mutation SNP A A T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 12709118 12709118 A T SNP TYRP1 ENST00000388918 human ensembl 69_37n +1 known missense c.1550 p.D517V 1.000 NULL pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors TYRP1 HGNC ENSG00000107165 162 0 0.00 111 23 17.16 - - - UACA 0 genome.wustl.edu 37 15 70960850 70960850 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 15 70960850 70960850 C T SNP UACA ENST00000322954 human ensembl 69_37n -1 known missense c.2173 p.D725N 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt - no_errors UACA HGNC ENSG00000137831 280 1 0.35 208 69 24.91 - - - UBA1 0 genome.wustl.edu 37 X 47066043 47066043 + RNA DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c X 47066043 47066043 T - DEL UBA1 ENST00000490869 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors UBA1 HGNC ENSG00000130985 31 0 0.00 9 5 35.71 - - - UBAP2 0 genome.wustl.edu 37 9 33923949 33923949 + Silent SNP A A C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 33923949 33923949 A C SNP UBAP2 ENST00000360802 human ensembl 69_37n -1 known silent c.2640 p.A880 0.636 NULL pfam_DUF3697_Uba2,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk - no_errors UBAP2 HGNC ENSG00000137073 84 0 0.00 40 12 23.08 - - - UBAP2L 0 genome.wustl.edu 37 1 154215409 154215409 + RNA DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 154215409 154215409 T - DEL UBAP2L ENST00000466173 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors UBAP2L HGNC ENSG00000143569 24 0 0.00 20 14 36.84 - - - UBAP2L 0 genome.wustl.edu 37 1 154223668 154223668 + Silent SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 154223668 154223668 T C SNP UBAP2L ENST00000361546 human ensembl 69_37n +1 known silent c.1365 p.P455 0.997 NULL pfam_DUF3697_Uba2,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAP2L HGNC ENSG00000143569 203 1 0.49 211 51 19.39 - - - UBR5 0 genome.wustl.edu 37 8 103289349 103289349 + Frame_Shift_Del DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 8 103289349 103289349 T - DEL UBR5 ENST00000520539 human ensembl 69_37n -1 known frame_shift_del c.6360 p.E2121fs 0.987 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 158 1 0.62 271 43 13.56 - - - UGT2A1 0 genome.wustl.edu 37 4 70455098 70455098 + Frame_Shift_Del DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 70455098 70455098 T - DEL UGT2A1 ENST00000457664 human ensembl 69_37n -1 known frame_shift_del c.1603 p.R535fs 0.933 NULL pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2A1 HGNC ENSG00000173610 106 0 0.00 103 22 17.60 - - - UGT2B4 0 genome.wustl.edu 37 4 70360966 70360966 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 70360966 70360966 A G SNP UGT2B4 ENST00000305107 human ensembl 69_37n -1 known missense c.614 p.M205T 1.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B4 HGNC ENSG00000156096 170 0 0.00 193 34 14.98 - - - ULK4 0 genome.wustl.edu 37 3 41705172 41705172 + Silent SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 41705172 41705172 T C SNP ULK4 ENST00000301831 human ensembl 69_37n -1 known silent c.2997 p.L999 0.052 superfamily_ARM-type_fold pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ULK4 HGNC ENSG00000168038 189 0 0.00 76 11 12.64 - - - UMOD 0 genome.wustl.edu 37 16 20346823 20346823 + Silent SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 16 20346823 20346823 T C SNP UMOD ENST00000424589 human ensembl 69_37n -1 known silent c.1941 p.S647 0.217 NULL pfam_Zona_pellucida_Endoglin/CD105,pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Zona_pellucida_Endoglin/CD105,pfscan_EG-like_dom,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr - no_errors UMOD HGNC ENSG00000169344 83 0 0.00 61 18 22.78 - - - UNC5D 0 genome.wustl.edu 37 8 35584038 35584038 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 8 35584038 35584038 C T SNP UNC5D ENST00000404895 human ensembl 69_37n +1 known missense c.1672 p.P558S 1.000 pfam_ZU5,smart_ZU5,pfscan_ZU5 pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death,pfam_Immunoglobulin,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like - no_errors UNC5D HGNC ENSG00000156687 299 0 0.00 184 100 35.21 - - - UNC79 0 genome.wustl.edu 37 14 94088694 94088694 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 14 94088694 94088694 G A SNP UNC79 ENST00000553484 human ensembl 69_37n +1 known silent c.5181 p.Q1727 0.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 404 0 0.00 252 77 23.33 - - - UPB1 0 genome.wustl.edu 37 22 24911232 24911232 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 22 24911232 24911232 G A SNP UPB1 ENST00000326010 human ensembl 69_37n +1 known missense c.685 p.A229T 0.999 pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase - no_errors UPB1 HGNC ENSG00000100024 110 0 0.00 73 30 29.13 - - - UPF3A 0 genome.wustl.edu 37 13 115057211 115057211 + Frame_Shift_Del DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 13 115057211 115057211 A - DEL UPF3A ENST00000375299 human ensembl 69_37n +1 known frame_shift_del c.790 p.E267fs 0.943 NULL pfam_Nonsense_mediated_decay_UPF3 - no_errors UPF3A HGNC ENSG00000169062 87 0 0.00 43 46 51.11 - - - UPK1A 0 genome.wustl.edu 37 19 36166880 36166880 + Nonsense_Mutation SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 36166880 36166880 G T SNP UPK1A ENST00000379013 human ensembl 69_37n +1 known nonsense c.607 p.E203* 0.951 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors UPK1A HGNC ENSG00000105668 21 0 0.00 4 10 71.43 - - - USP25 0 genome.wustl.edu 37 21 17203783 17203783 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 21 17203783 17203783 G A SNP USP25 ENST00000400183 human ensembl 69_37n +1 known missense c.1828 p.A610T 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Ubiquitin-int_motif,superfamily_UBA-like,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19 - no_errors USP25 HGNC ENSG00000155313 194 0 0.00 137 39 22.03 - - - USP35 0 genome.wustl.edu 37 11 77920856 77920856 + Frame_Shift_Del DEL C C - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 77920856 77920856 C - DEL USP35 ENST00000529308 human ensembl 69_37n +1 known frame_shift_del c.1955 p.T655fs 0.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP35 HGNC ENSG00000118369 75 0 0.00 72 34 32.08 - - - USP37 0 genome.wustl.edu 37 2 219423359 219423359 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 219423359 219423359 T C SNP USP37 ENST00000258399 human ensembl 69_37n -1 known missense c.18 p.I6M 1.000 NULL pfam_Peptidase_C19,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19 - no_errors USP37 HGNC ENSG00000135913 214 0 0.00 207 99 32.35 - - - USP38 0 genome.wustl.edu 37 4 144106826 144106826 + Nonsense_Mutation SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 144106826 144106826 G T SNP USP38 ENST00000307017 human ensembl 69_37n +1 known nonsense c.223 p.E75* 0.999 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP38 HGNC ENSG00000170185 41 0 0.00 19 6 24.00 - - - USP49 0 genome.wustl.edu 37 6 41767668 41767668 + Nonsense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 41767668 41767668 G A SNP USP49 ENST00000373009 human ensembl 69_37n -1 known nonsense c.1570 p.R524* 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP49 HGNC ENSG00000164663 112 0 0.00 60 11 15.49 - - - UTP14A 0 genome.wustl.edu 37 X 129053403 129053403 + Silent SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c X 129053403 129053403 T C SNP UTP14A ENST00000394422 human ensembl 69_37n +1 known silent c.690 p.A230 1.000 pfam_SSU_processome_Utp14 pfam_SSU_processome_Utp14 - no_errors UTP14A HGNC ENSG00000156697 131 0 0.00 55 19 25.68 - - - UTRN 0 genome.wustl.edu 37 6 144780370 144780370 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 144780370 144780370 T C SNP UTRN ENST00000367545 human ensembl 69_37n +1 known missense c.2587 p.S863P 0.070 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 112 0 0.00 79 17 17.71 - - - UXS1 0 genome.wustl.edu 37 2 106717538 106717538 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 106717538 106717538 G A SNP UXS1 ENST00000283148 human ensembl 69_37n -1 known silent c.960 p.S320 1.000 pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct pfam_Epimerase_deHydtase,pfam_UXS1_N,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_3Beta_OHSteriod_DH/Estase - no_errors UXS1 HGNC ENSG00000115652 63 0 0.00 52 13 20.00 - - - VAMP3 0 genome.wustl.edu 37 1 7838211 7838212 + In_Frame_Ins INS - - TCA TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 7838211 7838212 - TCA INS VAMP3 ENST00000054666 human ensembl 69_37n +1 known in_frame_ins c.265_266 p.93in_frame_insI 0.993:1.000 pfam_Synaptobrevin,pirsf_Synaptobrevin_met/fun,prints_Synaptobrevin pfam_Synaptobrevin,pirsf_Synaptobrevin_met/fun,pfscan_Synaptobrevin,prints_Synaptobrevin - no_errors VAMP3 HGNC ENSG00000049245 106 0 0.00 60 12 16.67 - - - VANGL2 0 genome.wustl.edu 37 1 160395031 160395031 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 160395031 160395031 G A SNP VANGL2 ENST00000368061 human ensembl 69_37n +1 known missense c.1429 p.V477I 0.986 pfam_Strabismus,pirsf_Strabismus pfam_Strabismus,pirsf_Strabismus - no_errors VANGL2 HGNC ENSG00000162738 131 0 0.00 127 23 15.33 - - - VARS2 0 genome.wustl.edu 37 6 30892268 30892268 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 6 30892268 30892268 G A SNP VARS2 ENST00000541562 human ensembl 69_37n +1 known silent c.2694 p.L898 1.000 pfam_V/L/I-tRNA-synth_anticodon-bd,superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Valyl-tRNA_synthetase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Valyl-tRNA_synthetase,tigrfam_Valyl-tRNA_synthetase - no_errors VARS2 HGNC ENSG00000137411 17 0 0.00 12 4 25.00 - - - VAV2 0 genome.wustl.edu 37 9 136635569 136635569 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 136635569 136635569 C T SNP VAV2 ENST00000371850 human ensembl 69_37n -1 known missense c.2278 p.D760N 1.000 pfscan_SH2 pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain - no_errors VAV2 HGNC ENSG00000160293 44 0 0.00 30 4 11.76 - - - VPS11 0 genome.wustl.edu 37 11 118949892 118949892 + RNA SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 118949892 118949892 T C SNP VPS11 ENST00000300793 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors VPS11 HGNC ENSG00000160695 52 0 0.00 19 11 36.67 - - - VPS13B 0 genome.wustl.edu 37 8 100791209 100791209 + Nonsense_Mutation SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 8 100791209 100791209 G T SNP VPS13B ENST00000358544 human ensembl 69_37n +1 known nonsense c.7804 p.G2602* 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 121 0 0.00 137 28 16.97 - - - VPS35 0 genome.wustl.edu 37 16 46696915 46696915 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 16 46696915 46696915 C T SNP VPS35 ENST00000299138 human ensembl 69_37n -1 known missense c.1807 p.A603T 1.000 pfam_VPS35,superfamily_ARM-type_fold pfam_VPS35,superfamily_ARM-type_fold - no_errors VPS35 HGNC ENSG00000069329 83 0 0.00 41 37 47.44 - - - WASF3 0 genome.wustl.edu 37 13 27255387 27255387 + Frame_Shift_Del DEL C C - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 13 27255387 27255387 C - DEL WASF3 ENST00000335327 human ensembl 69_37n +1 known frame_shift_del c.913 p.P307fs 0.975 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF3 HGNC ENSG00000132970 48 0 0.00 43 15 24.19 - - - WDR52 0 genome.wustl.edu 37 3 113082076 113082077 + Frame_Shift_Del DEL CT CT - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 113082076 113082077 CT - DEL WDR52 ENST00000393845 human ensembl 69_37n -1 known frame_shift_del c.2850_2849 p.E950fs 0.017:0.961 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR52 HGNC ENSG00000206530 214 0 0.00 232 41 14.80 - - - WDR54 0 genome.wustl.edu 37 2 74652808 74652808 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 74652808 74652808 C T SNP WDR54 ENST00000348227 human ensembl 69_37n +1 known missense c.985 p.R329W 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR54 HGNC ENSG00000005448 176 0 0.00 97 13 11.71 - - - WDR60 0 genome.wustl.edu 37 7 158672483 158672483 + Nonsense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 7 158672483 158672483 C T SNP WDR60 ENST00000407559 human ensembl 69_37n +1 known nonsense c.682 p.R228* 0.012 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR60 HGNC ENSG00000126870 241 0 0.00 193 74 27.72 - - - WDR7 0 genome.wustl.edu 37 18 54354207 54354207 + Splice_Site SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 18 54354207 54354207 T C SNP WDR7 ENST00000254442 human ensembl 69_37n +1 known splice_site c.717+2 e6+2 1.000 - - - no_errors WDR7 HGNC ENSG00000091157 42 0 0 34 23 39.66 - - - WDR7 0 genome.wustl.edu 37 18 54354207 54354207 + Splice_Site SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 18 54354207 54354207 T C SNP WDR7 ENST00000254442 human ensembl 69_37n +1 known splice_site c.717+2 e6+2 1.000 - - - no_errors WDR7 HGNC ENSG00000091157 42 0 0.00 34 23 39.66 - - - WDTC1 0 genome.wustl.edu 37 1 27631480 27631480 + RNA DEL C C - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 27631480 27631480 C - DEL WDTC1 ENST00000491239 human ensembl 69_37n +1 known rna NULL NULL 0.309 - - - no_errors WDTC1 HGNC ENSG00000142784 62 0 0.00 55 8 12.50 - - - WEE2 0 genome.wustl.edu 37 7 141418904 141418904 + Silent SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 7 141418904 141418904 C A SNP WEE2 ENST00000397541 human ensembl 69_37n +1 known silent c.618 p.S206 1.000 superfamily_Kinase-like_dom,pirsf_Wee1-like_protein_kinase 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,pirsf_Wee1-like_protein_kinase,pfscan_Prot_kinase_cat_dom - no_errors WEE2 HGNC ENSG00000214102 156 0 0.00 126 56 30.77 - - - WFS1 0 genome.wustl.edu 37 4 6303118 6303118 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 6303118 6303118 G A SNP WFS1 ENST00000226760 human ensembl 69_37n +1 known silent c.1596 p.V532 0.991 NULL NULL - no_errors WFS1 HGNC ENSG00000109501 54 0 0.00 35 7 16.67 - - - WNK4 0 genome.wustl.edu 37 17 40947959 40947961 + In_Frame_Del DEL CTC CTC - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 40947959 40947961 CTC - DEL WNK4 ENST00000246914 human ensembl 69_37n +1 known in_frame_del c.3339_3341 p.S1114in_frame_del 1.000:0.999:0.998 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK4 HGNC ENSG00000126562 46 0 0.00 38 5 11.63 - - - XDH 0 genome.wustl.edu 37 2 31588950 31588951 + Frame_Shift_Ins INS - - C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 31588950 31588951 - C INS XDH ENST00000379416 human ensembl 69_37n -1 known frame_shift_ins c.2348_2347 p.V783fs 0.997:0.996 pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu - no_errors XDH HGNC ENSG00000158125 169 0 0.00 138 24 14.81 - - - XIRP2 0 genome.wustl.edu 37 2 167760086 167760086 + Missense_Mutation SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 167760086 167760086 C A SNP XIRP2 ENST00000295237 human ensembl 69_37n +1 known missense c.94 p.H32N 0.016 NULL pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd - no_errors XIRP2 HGNC ENSG00000163092 95 0 0.00 95 17 15.18 - - - XIRP2 0 genome.wustl.edu 37 2 168103264 168103264 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 168103264 168103264 A G SNP XIRP2 ENST00000295237 human ensembl 69_37n +1 known missense c.5362 p.T1788A 1.000 NULL pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd - no_errors XIRP2 HGNC ENSG00000163092 460 0 0.00 525 94 15.16 - - - XIRP2 0 genome.wustl.edu 37 2 168107830 168107830 + Missense_Mutation SNP C C G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 168107830 168107830 C G SNP XIRP2 ENST00000295237 human ensembl 69_37n +1 known missense c.9928 p.Q3310E 0.006 NULL pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd - no_errors XIRP2 HGNC ENSG00000163092 313 0 0.00 216 107 33.02 - - - XIRP2 0 genome.wustl.edu 37 2 168110571 168110571 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 168110571 168110571 T C SNP XIRP2 ENST00000295237 human ensembl 69_37n +1 known missense c.10585 p.Y3529H 1.000 NULL pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd - no_errors XIRP2 HGNC ENSG00000163092 137 0 0.00 115 21 15.44 - - - XIST 0 genome.wustl.edu 37 X 73042431 73042432 + RNA INS - - T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c X 73042431 73042432 - T INS XIST ENST00000429829 human ensembl 69_37n -1 known rna NULL NULL 0.005:0.009 - - - no_errors XIST HGNC ENSG00000229807 46 0 0.00 33 6 15.38 - - - XIST 0 genome.wustl.edu 37 X 73042657 73042657 + RNA SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c X 73042657 73042657 G A SNP XIST ENST00000429829 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors XIST HGNC ENSG00000229807 213 0 0.00 87 41 32.03 - - - XPA 0 genome.wustl.edu 37 9 100437634 100437634 + RNA DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 100437634 100437634 T - DEL XPA ENST00000485042 human ensembl 69_37n -1 known rna NULL NULL 0.004 - - - no_errors XPA HGNC ENSG00000136936 32 0 0.00 19 16 44.44 - - - XPC 0 genome.wustl.edu 37 3 14200022 14200022 + Missense_Mutation SNP T T G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 14200022 14200022 T G SNP XPC ENST00000285021 human ensembl 69_37n -1 known missense c.1361 p.D454A 0.000 tigrfam_DNA_repair_Rad4_subgr pfam_Rad4/PNGase_transGLS-fold,pfam_Rad4_beta-hairpin_dom3,pfam_Rad4_beta-hairpin_dom2,pfam_Rad4_beta-hairpin_dom1,tigrfam_DNA_repair_Rad4_subgr - no_errors XPC HGNC ENSG00000154767 179 0 0.00 160 32 16.67 - - - XPOT 0 genome.wustl.edu 37 12 64812755 64812755 + Frame_Shift_Del DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 64812755 64812755 T - DEL XPOT ENST00000332707 human ensembl 69_37n +1 known frame_shift_del c.370 p.F126fs 1.000 pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors XPOT HGNC ENSG00000184575 60 0 0.00 50 27 35.06 - - - XYLT2 0 genome.wustl.edu 37 17 48433967 48433967 + Frame_Shift_Del DEL C C - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 48433967 48433967 C - DEL XYLT2 ENST00000017003 human ensembl 69_37n +1 known frame_shift_del c.1578 p.G529fs 1.000 pfam_XylT_met pfam_XylT_met,pfam_Glyco_trans_14 - no_errors XYLT2 HGNC ENSG00000015532 97 0 0.00 40 9 18.00 - - - YARS 0 genome.wustl.edu 37 1 33245441 33245441 + RNA SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 33245441 33245441 T C SNP YARS ENST00000490826 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors YARS HGNC ENSG00000134684 35 0 0.00 25 6 19.35 - - - YTHDC1 0 genome.wustl.edu 37 4 69203143 69203143 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 69203143 69203143 C T SNP YTHDC1 ENST00000344157 human ensembl 69_37n -1 known missense c.485 p.R162H 1.000 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDC1 HGNC ENSG00000083896 120 0 0.00 101 20 16.53 - - - ZAK 0 genome.wustl.edu 37 2 174085999 174085999 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 2 174085999 174085999 G A SNP ZAK ENST00000338983 human ensembl 69_37n +1 known missense c.1109 p.G370D 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors AC013461.1 Clone_based_vega_gene ENSG00000091436 101 0 0.00 105 16 13.11 - - - ZBED1 0 genome.wustl.edu 37 X 2408734 2408734 + Silent SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c X 2408734 2408734 G T SNP ZBED1 ENST00000381218 human ensembl 69_37n -1 known silent c.27 p.S9 0.004 NULL pfam_HATC,pfam_Znf_BED_prd,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED1 HGNC ENSG00000214717 103 0 0.00 71 9 11.25 - - - ZBTB1 0 genome.wustl.edu 37 14 64989362 64989362 + Frame_Shift_Del DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 14 64989362 64989362 A - DEL ZBTB1 ENST00000394712 human ensembl 69_37n +1 known frame_shift_del c.1140 p.S383fs 0.015 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB1 HGNC ENSG00000126804 81 0 0.00 71 23 24.21 - - - ZBTB20 0 genome.wustl.edu 37 3 114058003 114058003 + Frame_Shift_Del DEL G G - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 3 114058003 114058003 G - DEL ZBTB20 ENST00000474710 human ensembl 69_37n -1 known frame_shift_del c.2075 p.P692fs 0.678 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB20 HGNC ENSG00000181722 77 0 0.00 36 20 33.33 - - - ZBTB40 0 genome.wustl.edu 37 1 22839544 22839544 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 22839544 22839544 G A SNP ZBTB40 ENST00000375647 human ensembl 69_37n +1 known silent c.2589 p.P863 0.066 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB40 HGNC ENSG00000184677 96 0 0.00 50 13 20.63 - - - ZBTB43 0 genome.wustl.edu 37 9 129595423 129595423 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 129595423 129595423 G A SNP ZBTB43 ENST00000373457 human ensembl 69_37n +1 known missense c.635 p.S212N 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB43 HGNC ENSG00000169155 26 0 0.00 21 11 34.38 - - - ZBTB6 0 genome.wustl.edu 37 9 125673378 125673378 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 125673378 125673378 A G SNP ZBTB6 ENST00000373659 human ensembl 69_37n -1 known missense c.974 p.L325P 0.995 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB6 HGNC ENSG00000186130 126 0 0.00 80 31 27.93 - - - ZBTB8A 0 genome.wustl.edu 37 1 33065979 33065981 + In_Frame_Del DEL GAA GAA - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 33065979 33065981 GAA - DEL ZBTB8A ENST00000373510 human ensembl 69_37n +1 known in_frame_del c.1285_1287 p.E432in_frame_del 1.000:1.000:0.990 NULL pfam_BTB_POZ,pfam_Znf_C2H2,pfam_DUF3342,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB8A HGNC ENSG00000160062 86 0 0.00 66 8 10.39 - - - ZC2HC1C 0 genome.wustl.edu 37 14 75537733 75537733 + Missense_Mutation SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 14 75537733 75537733 G T SNP ZC2HC1C ENST00000524913 human ensembl 69_37n +1 known missense c.457 p.G153C 0.000 NULL NULL - no_errors ZC2HC1C HGNC ENSG00000119703 488 0 0.00 278 67 19.42 - - - ZC3H12A 0 genome.wustl.edu 37 1 37949123 37949123 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 37949123 37949123 G A SNP ZC3H12A ENST00000373082 human ensembl 69_37n +1 known missense c.1711 p.A571T 0.949 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12A HGNC ENSG00000163874 26 0 0.00 10 5 33.33 - - - ZC3H13 0 genome.wustl.edu 37 13 46549808 46549809 + Frame_Shift_Del DEL CT CT - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 13 46549808 46549809 CT - DEL ZC3H13 ENST00000242848 human ensembl 69_37n -1 known frame_shift_del c.2078_2077 p.R693fs 0.991:0.444 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 231 1 0.43 266 46 14.74 - - - ZC3H13 0 genome.wustl.edu 37 13 46549846 46549847 + Frame_Shift_Ins INS - - TC TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 13 46549846 46549847 - TC INS ZC3H13 ENST00000242848 human ensembl 69_37n -1 known frame_shift_ins c.2040_2039 p.D680fs 0.949:1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 177 0 0.00 203 35 14.71 - - - ZCRB1 0 genome.wustl.edu 37 12 42707750 42707750 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 42707750 42707750 C T SNP ZCRB1 ENST00000266529 human ensembl 69_37n -1 known missense c.372 p.M124I 1.000 NULL pfam_RRM_dom,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_RRM_dom_euk,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom - no_errors ZCRB1 HGNC ENSG00000139168 186 0 0.00 168 36 17.65 - - - ZDHHC20 0 genome.wustl.edu 37 13 21965870 21965870 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 13 21965870 21965870 T C SNP ZDHHC20 ENST00000400590 human ensembl 69_37n -1 known missense c.718 p.T240A 0.999 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC20 HGNC ENSG00000180776 142 1 0.70 116 86 42.57 - - - ZDHHC5 0 genome.wustl.edu 37 11 57466427 57466427 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 11 57466427 57466427 G A SNP ZDHHC5 ENST00000287169 human ensembl 69_37n +1 known missense c.1519 p.A507T 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC5 HGNC ENSG00000156599 87 0 0.00 58 14 19.44 - - - ZFC3H1 0 genome.wustl.edu 37 12 72007122 72007122 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 72007122 72007122 C T SNP ZFC3H1 ENST00000378743 human ensembl 69_37n -1 known missense c.5620 p.A1874T 1.000 NULL pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom - no_errors ZFC3H1 HGNC ENSG00000133858 56 0 0.00 53 13 19.70 - - - ZFHX4 0 genome.wustl.edu 37 8 77768193 77768193 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 8 77768193 77768193 C T SNP ZFHX4 ENST00000521891 human ensembl 69_37n +1 known silent c.9036 p.C3012 1.000 smart_Znf_U1,smart_Znf_C2H2-like pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 133 0 0.00 166 23 12.17 - - - ZFHX4 0 genome.wustl.edu 37 8 77776083 77776085 + In_Frame_Del DEL AAG AAG - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 8 77776083 77776085 AAG - DEL ZFHX4 ENST00000521891 human ensembl 69_37n +1 known in_frame_del c.10133_10135 p.E3380in_frame_del 1.000:1.000:1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 57 0 0.00 53 55 49.55 - - - ZFP62 0 genome.wustl.edu 37 5 180277409 180277409 + Missense_Mutation SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 180277409 180277409 C A SNP ZFP62 ENST00000512132 human ensembl 69_37n -1 known missense c.987 p.E329D 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP62 HGNC ENSG00000196670 25 0 0.00 11 14 56.00 - - - ZFP82 0 genome.wustl.edu 37 19 36884650 36884650 + Missense_Mutation SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 36884650 36884650 A G SNP ZFP82 ENST00000392161 human ensembl 69_37n -1 known missense c.592 p.Y198H 0.883 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 ZFP82 HGNC ENSG00000181007 221 0 0.00 203 108 34.73 - - - ZFPM2 0 genome.wustl.edu 37 8 106815706 106815706 + Silent SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 8 106815706 106815706 A G SNP ZFPM2 ENST00000407775 human ensembl 69_37n +1 known silent c.3396 p.S1132 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 38 0 0.00 28 40 58.82 - - - ZFYVE19 0 genome.wustl.edu 37 15 41101336 41101336 + Nonsense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 15 41101336 41101336 G A SNP ZFYVE19 ENST00000568062 human ensembl 69_37n +1 known nonsense c.279 p.W93* 1.000 NULL superfamily_Znf_FYVE_PHD - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ZFYVE19 HGNC ENSG00000166140 48 0 0.00 28 11 28.21 - - - ZFYVE26 0 genome.wustl.edu 37 14 68238793 68238793 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 14 68238793 68238793 T C SNP ZFYVE26 ENST00000347230 human ensembl 69_37n -1 known missense c.5455 p.M1819V 1.000 pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE26 HGNC ENSG00000072121 32 0 0.00 14 5 26.32 - - - ZHX2 0 genome.wustl.edu 37 8 123965770 123965770 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 8 123965770 123965770 C T SNP ZHX2 ENST00000314393 human ensembl 69_37n +1 known missense c.2020 p.R674C 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZHX2 HGNC ENSG00000178764 94 0 0.00 134 16 10.67 - - - ZHX2 0 genome.wustl.edu 37 8 123966150 123966150 + Missense_Mutation SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 8 123966150 123966150 G T SNP ZHX2 ENST00000314393 human ensembl 69_37n +1 known missense c.2400 p.E800D 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZHX2 HGNC ENSG00000178764 69 0 0.00 109 16 12.80 - - - ZMIZ1 0 genome.wustl.edu 37 10 81060562 81060562 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 81060562 81060562 G A SNP ZMIZ1 ENST00000334512 human ensembl 69_37n +1 known missense c.1882 p.V628M 1.000 NULL pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ1 HGNC ENSG00000108175 20 0 0.00 9 3 25.00 - - - ZMPSTE24 0 genome.wustl.edu 37 1 40726653 40726653 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 40726653 40726653 G A SNP ZMPSTE24 ENST00000372759 human ensembl 69_37n +1 known missense c.266 p.G89D 1.000 NULL pfam_Peptidase_M48 - no_errors ZMPSTE24 HGNC ENSG00000084073 166 0 0.00 115 34 22.67 - - - ZMYM2 0 genome.wustl.edu 37 13 20625720 20625720 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 13 20625720 20625720 C T SNP ZMYM2 ENST00000382869 human ensembl 69_37n +1 known missense c.2440 p.P814S 1.000 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH - no_errors ZMYM2 HGNC ENSG00000121741 81 0 0.00 55 29 34.52 - - - ZMYM2 0 genome.wustl.edu 37 13 20638677 20638677 + Frame_Shift_Del DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 13 20638677 20638677 A - DEL ZMYM2 ENST00000382869 human ensembl 69_37n +1 known frame_shift_del c.3124 p.K1044fs 1.000 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH - no_errors ZMYM2 HGNC ENSG00000121741 26 0 0.00 19 11 36.67 - - - ZMYM3 0 genome.wustl.edu 37 X 70467388 70467388 + RNA SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c X 70467388 70467388 C A SNP ZMYM3 ENST00000489332 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors ZMYM3 HGNC ENSG00000147130 76 0 0.00 20 4 16.67 - - - ZMYM3 0 genome.wustl.edu 37 X 70472854 70472854 + Frame_Shift_Del DEL C C - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c X 70472854 70472854 C - DEL ZMYM3 ENST00000373988 human ensembl 69_37n -1 known frame_shift_del c.252 p.L85fs 1.000 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH - no_errors ZMYM3 HGNC ENSG00000147130 35 0 0.00 11 5 31.25 - - - ZMYM6 0 genome.wustl.edu 37 1 35476534 35476534 + Frame_Shift_Del DEL C C - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 35476534 35476534 C - DEL ZMYM6 ENST00000357182 human ensembl 69_37n -1 known frame_shift_del c.1166 p.G389fs 0.009 NULL pfam_Znf_MYM,superfamily_RNaseH-like_dom,smart_TRASH - no_errors ZMYM6 HGNC ENSG00000163867 82 0 0.00 47 17 26.56 - - - ZNF185 0 genome.wustl.edu 37 X 152132427 152132427 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c X 152132427 152132427 C T SNP ZNF185 ENST00000535861 human ensembl 69_37n +1 known missense c.1745 p.A582V 0.001 NULL smart_Znf_LIM,pfscan_Znf_LIM - no_errors ZNF185 HGNC ENSG00000147394 145 0 0.00 55 20 26.67 - - - ZNF205 0 genome.wustl.edu 37 16 3168990 3168992 + In_Frame_Del DEL AGA AGA - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 16 3168990 3168992 AGA - DEL ZNF205 ENST00000219091 human ensembl 69_37n +1 known in_frame_del c.569_571 p.K191in_frame_del 0.633:0.615:0.001 pfscan_Krueppel-associated_box 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 ZNF205 HGNC ENSG00000122386 10 0 0.00 3 3 50.00 - - - ZNF221 0 genome.wustl.edu 37 19 44471307 44471307 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 44471307 44471307 G A SNP ZNF221 ENST00000251269 human ensembl 69_37n +1 known missense c.1653 p.M551I 0.001 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 ZNF221 HGNC ENSG00000159905 216 0 0.00 180 84 31.82 - - - ZNF225 0 genome.wustl.edu 37 19 44636115 44636115 + Missense_Mutation SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 44636115 44636115 C A SNP ZNF225 ENST00000262894 human ensembl 69_37n +1 known missense c.1348 p.H450N 0.988 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 ZNF225 HGNC ENSG00000256294 317 0 0.00 333 76 18.58 - - - ZNF238 0 genome.wustl.edu 37 1 244217994 244217997 + Frame_Shift_Del DEL GAAA GAAA - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 GAAA GAAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 244217994 244217997 GAAA - DEL ZNF238 ENST00000358704 human ensembl 69_37n +1 known frame_shift_del c.918_921 p.E308fs 1.000:1.000:1.000:1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZNF238 HGNC ENSG00000179456 100 0 0.00 82 12 12.77 - - - ZNF254 0 genome.wustl.edu 37 19 24309669 24309669 + Silent SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 24309669 24309669 T C SNP ZNF254 ENST00000357002 human ensembl 69_37n +1 known silent c.867 p.T289 0.965 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 ZNF254 HGNC ENSG00000213096 277 1 0.36 196 47 19.34 - - - ZNF267 0 genome.wustl.edu 37 16 31926605 31926605 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 16 31926605 31926605 C T SNP ZNF267 ENST00000300870 human ensembl 69_37n +1 known silent c.1035 p.T345 0.914 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 ZNF267 HGNC ENSG00000185947 249 0 0.00 235 63 21.07 - - - ZNF268 0 genome.wustl.edu 37 12 133780595 133780595 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 12 133780595 133780595 G A SNP ZNF268 ENST00000228289 human ensembl 69_37n +1 known missense c.2323 p.A775T 0.884 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 ZNF268 HGNC ENSG00000090612 57 0 0.00 31 7 18.42 - - - ZNF286A 0 genome.wustl.edu 37 17 15619694 15619694 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 15619694 15619694 C T SNP ZNF286A ENST00000413242 human ensembl 69_37n +1 known missense c.656 p.T219I 0.003 NULL 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 AC005324.8-001 Clone_based_vega_gene ENSG00000255104 90 0 0.00 84 24 22.22 - - - ZNF335 0 genome.wustl.edu 37 20 44589091 44589091 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 20 44589091 44589091 C T SNP ZNF335 ENST00000322927 human ensembl 69_37n -1 known missense c.1856 p.R619H 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF335 HGNC ENSG00000198026 44 0 0.00 25 11 30.56 - - - ZNF347 0 genome.wustl.edu 37 19 53644695 53644695 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 53644695 53644695 G A SNP ZNF347 ENST00000452676 human ensembl 69_37n -1 known silent c.1389 p.C463 0.996 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 ZNF347 HGNC ENSG00000197937 314 1 0.32 308 140 31.25 - - - ZNF442 0 genome.wustl.edu 37 19 12460577 12460577 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 12460577 12460577 C T SNP ZNF442 ENST00000242804 human ensembl 69_37n -1 known missense c.1822 p.A608T 0.018 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 ZNF442 HGNC ENSG00000198342 244 0 0.00 146 54 26.87 - - - ZNF446 0 genome.wustl.edu 37 19 58988739 58988739 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 58988739 58988739 T C SNP ZNF446 ENST00000335841 human ensembl 69_37n +1 known missense c.154 p.C52R 0.964 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF446 HGNC ENSG00000083838 53 0 0.00 29 14 32.56 - - - ZNF474 0 genome.wustl.edu 37 5 121487948 121487948 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 5 121487948 121487948 C T SNP ZNF474 ENST00000296600 human ensembl 69_37n +1 known missense c.263 p.P88L 0.728 NULL pfscan_Znf_C2H2 - no_errors ZNF474 HGNC ENSG00000164185 267 0 0.00 101 120 54.30 - - - ZNF527 0 genome.wustl.edu 37 19 37879980 37879980 + Silent SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 37879980 37879980 T C SNP ZNF527 ENST00000436120 human ensembl 69_37n +1 known silent c.1029 p.A343 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 ZNF527 HGNC ENSG00000189164 229 1 0.43 222 44 16.54 - - - ZNF528 0 genome.wustl.edu 37 19 52918609 52918609 + Missense_Mutation SNP T T A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 52918609 52918609 T A SNP ZNF528 ENST00000360465 human ensembl 69_37n +1 known missense c.504 p.D168E 0.000 NULL 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 ZNF528 HGNC ENSG00000167555 170 0 0.00 124 65 34.39 - - - ZNF551 0 genome.wustl.edu 37 19 58199604 58199604 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 58199604 58199604 G A SNP ZNF551 ENST00000356715 human ensembl 69_37n +1 known missense c.1961 p.R654H 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 ZNF551 HGNC ENSG00000204519 425 2 0.47 422 83 16.34 - - - ZNF557 0 genome.wustl.edu 37 19 7075749 7075749 + Silent SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 7075749 7075749 C T SNP ZNF557 ENST00000252840 human ensembl 69_37n +1 known silent c.115 p.L39 0.368 superfamily_Krueppel-associated_box 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 ZNF557 HGNC ENSG00000130544 103 0 0.00 93 29 23.77 - - - ZNF611 0 genome.wustl.edu 37 19 53208724 53208724 + Silent SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 53208724 53208724 A G SNP ZNF611 ENST00000319783 human ensembl 69_37n -1 known silent c.1584 p.H528 0.227 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 ZNF611 HGNC ENSG00000213020 724 0 0.00 599 114 15.99 - - - ZNF624 0 genome.wustl.edu 37 17 16526110 16526110 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 17 16526110 16526110 T C SNP ZNF624 ENST00000311331 human ensembl 69_37n -1 known missense c.2090 p.K697R 0.996 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 ZNF624 HGNC ENSG00000197566 260 1 0.38 186 53 22.18 - - - ZNF675 0 genome.wustl.edu 37 19 23836782 23836782 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 23836782 23836782 C T SNP ZNF675 ENST00000359788 human ensembl 69_37n -1 known missense c.953 p.G318D 1.000 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 ZNF675 HGNC ENSG00000197372 240 0 0.00 138 27 16.36 - - - ZNF687 0 genome.wustl.edu 37 1 151261079 151261079 + Frame_Shift_Del DEL C C - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 151261079 151261079 C - DEL ZNF687 ENST00000324048 human ensembl 69_37n +1 known frame_shift_del c.2191 p.H733fs 0.430 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF687 HGNC ENSG00000143373 79 0 0.00 45 14 23.33 - - - ZNF721 0 genome.wustl.edu 37 4 435676 435676 + Silent SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 4 435676 435676 A G SNP ZNF721 ENST00000511833 human ensembl 69_37n -1 known silent c.2580 p.T860 0.995 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF721 HGNC ENSG00000182903 130 1 0.76 125 33 20.62 - - - ZNF79 0 genome.wustl.edu 37 9 130206388 130206388 + Missense_Mutation SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 9 130206388 130206388 C A SNP ZNF79 ENST00000342483 human ensembl 69_37n +1 known missense c.409 p.P137T 0.003 NULL pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF79 HGNC ENSG00000196152 286 0 0.00 212 35 14.11 - - - ZNF791 0 genome.wustl.edu 37 19 12739852 12739852 + Missense_Mutation SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 12739852 12739852 G T SNP ZNF791 ENST00000343325 human ensembl 69_37n +1 known missense c.1509 p.K503N 0.284 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 ZNF791 HGNC ENSG00000173875 152 0 0.00 102 18 15.00 - - - ZNF800 0 genome.wustl.edu 37 7 127017265 127017265 + Nonsense_Mutation SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 7 127017265 127017265 G T SNP ZNF800 ENST00000265827 human ensembl 69_37n -1 known nonsense c.276 p.C92* 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF800 HGNC ENSG00000048405 192 0 0.00 142 24 14.46 - - - ZNF805 0 genome.wustl.edu 37 19 57765622 57765622 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 57765622 57765622 G A SNP ZNF805 ENST00000414468 human ensembl 69_37n +1 known missense c.1435 p.G479R 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 ZNF805 HGNC ENSG00000204524 152 0 0.00 138 56 28.87 - - - ZNF814 0 genome.wustl.edu 37 19 58384947 58384947 + Missense_Mutation SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 58384947 58384947 T C SNP ZNF814 ENST00000435989 human ensembl 69_37n -1 known missense c.1811 p.Y604C 0.032 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 ZNF814 HGNC ENSG00000204514 215 0 0.00 177 64 26.56 - - - ZNF816 0 genome.wustl.edu 37 19 53453583 53453583 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 53453583 53453583 G A SNP ZNF816 ENST00000357666 human ensembl 69_37n -1 known missense c.1445 p.T482I 0.024 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 ZNF816 HGNC ENSG00000180257 196 0 0.00 162 67 29.26 - - - ZNF833P 0 genome.wustl.edu 37 19 11796545 11796545 + RNA SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 11796545 11796545 T C SNP ZNF833P ENST00000344893 human ensembl 69_37n +1 known rna NULL NULL 0.178 - - - no_errors ZNF833P HGNC ENSG00000197332 128 0 0.00 89 18 16.82 - - - ZNF850 0 genome.wustl.edu 37 19 37239077 37239077 + Silent SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 37239077 37239077 A G SNP ZNF850 ENST00000591344 human ensembl 69_37n -1 known silent c.2865 p.C955 0.286 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 ZNF850 HGNC ENSG00000267041 48 0 0.00 42 11 20.00 - - - ZNF93 0 genome.wustl.edu 37 19 20044952 20044952 + Silent SNP C C A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 20044952 20044952 C A SNP ZNF93 ENST00000343769 human ensembl 69_37n +1 known silent c.1188 p.P396 0.878 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 ZNF93 HGNC ENSG00000184635 438 0 0.00 245 87 26.20 - - - ZNF98 0 genome.wustl.edu 37 19 22575695 22575695 + Frame_Shift_Del DEL T T - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 19 22575695 22575695 T - DEL ZNF98 ENST00000357774 human ensembl 69_37n -1 known frame_shift_del c.342 p.K114fs 0.024 NULL 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 ZNF98 HGNC ENSG00000197360 76 0 0.00 59 16 21.05 - - - ZP4 0 genome.wustl.edu 37 1 238048751 238048751 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 1 238048751 238048751 C T SNP ZP4 ENST00000366570 human ensembl 69_37n -1 known missense c.1100 p.C367Y 0.999 pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr pfam_Zona_pellucida_Endoglin/CD105,pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr - no_errors ZP4 HGNC ENSG00000116996 81 0 0.00 61 43 41.35 - - - ZRANB1 0 genome.wustl.edu 37 10 126671767 126671767 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30870af5-e46e-47c6-b7fb-af6f4c91861e 9243b0f3-5c29-4922-902c-8348cd53537c 10 126671767 126671767 G A SNP ZRANB1 ENST00000359653 human ensembl 69_37n +1 known silent c.1572 p.T524 0.940 pfam_OTU,pfscan_OTU pfam_OTU,pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_OTU,pfscan_Znf_RanBP2 - no_errors ZRANB1 HGNC ENSG00000019995 194 0 0.00 99 69 41.07 - - -