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 transcript_name strand transcript_status amino_acid_change ucsc_cons normal_depth normal_vaf tumor_depth tumor_vaf rna_depth rna_vaf polyphen sift condel domain UBE4B 10277 genome.wustl.edu 37 1 10190663 10190663 + Missense_Mutation SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_001105562.1 +1 reviewed p.A601T 1.000 266 0% 208 40.9% 4 0% probably_damaging(0.965) deleterious(0.03) deleterious(0.771) HMMPfam_Ufd2P_core C1orf127 148345 genome.wustl.edu 37 1 11008740 11008740 + Silent SNP C C A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 ENST00000377008 -1 known p.S317 0.011 10 0% 16 56.2% 0 - - - - NULL ANGPTL7 10218 genome.wustl.edu 37 1 11254588 11254588 + Missense_Mutation SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_021146.2 +1 provisional p.R248H 1.000 107 0% 89 46.1% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_Fibrinogen_C,HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like AKR7A3 22977 genome.wustl.edu 37 1 19611515 19611515 + Missense_Mutation SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_012067.2 -1 validated p.A201T 1.000 36 0% 46 10.9% 9 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Aldo_ket_red,superfamily_Aldo/ket_red HSPG2 3339 genome.wustl.edu 37 1 22157773 22157773 + Missense_Mutation SNP G G T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 ENST00000374695 -1 known p.H3833N 1.000 18 0% 13 46.2% 37 18.9% possibly_damaging(0.723) tolerated(0.34) neutral(0.286) superfamily_Concanavalin A-like lectins/glucanases THRAP3 9967 genome.wustl.edu 37 1 36754757 36754757 + Silent SNP T T G novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_005119.3 +1 validated p.S379 0.995 431 0% 358 40.2% 9 55.5% - - - NULL COL9A2 1298 genome.wustl.edu 37 1 40775806 40775806 + Missense_Mutation SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_001852.3 -1 reviewed p.A257T 0.991 92 0% 55 34.5% 4 0% unknown(0) tolerated(0.21) - NULL PIK3R3 8503 genome.wustl.edu 37 1 46509408 46509410 + In_Frame_Del DEL GTT GTT - novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 GTT GTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_001114172.1 -1 validated p.N441in_frame_del 1.000:1.000:1.000 - - - - - - - - - superfamily_SH2 domain CTH 1491 genome.wustl.edu 37 1 70896052 70896052 + Silent SNP T T C novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_001902.4 +1 reviewed p.H233 0.422 109 0% 85 23.5% 0 - - - - HMMPfam_Cys_Met_Meta_PP,superfamily_PLP-dependent transferases IFI44 10561 genome.wustl.edu 37 1 79128474 79128474 + Missense_Mutation SNP C C A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_006417.4 +1 validated p.P400H 0.000 328 0% 295 14.2% 7 0% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) superfamily_SSF52540 SYDE2 84144 genome.wustl.edu 37 1 85656331 85656331 + Missense_Mutation SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_032184.1 -1 validated p.V284I 1.000 387 0% 367 39.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL AMY2B 280 genome.wustl.edu 37 1 104116380 104116380 + Missense_Mutation SNP T T A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_020978.3 +1 reviewed p.D188E 0.996 663 0% 868 38.1% 11 81.8% benign(0.002) tolerated(0.35) neutral(0.021) HMMPfam_Alpha-amylase,HMMSmart_SM00642,superfamily_(Trans)glycosidases KCNA10 3744 genome.wustl.edu 37 1 111061203 111061203 + Silent SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_005549.2 -1 reviewed p.D69 0.911 173 0% 108 39.8% 0 - - - - NULL DDX20 11218 genome.wustl.edu 37 1 112305591 112305591 + Missense_Mutation SNP T T A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_007204.4 +1 reviewed p.I425N 1.000 59 0% 78 51.3% 4 0% possibly_damaging(0.858) deleterious(0) deleterious(0.776) superfamily_SSF52540 CD101 9398 genome.wustl.edu 37 1 117568229 117568229 + Missense_Mutation SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_004258.3 +1 validated p.A843T 0.001 137 0% 124 41.9% 5 100% possibly_damaging(0.477) tolerated(0.67) neutral(0.160) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 IGSF9 57549 genome.wustl.edu 37 1 159900074 159900074 + Missense_Mutation SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_001135050.1 -1 validated p.V657I 0.044 250 0% 282 19.5% 21 9.5% benign(0) tolerated(1) - HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like ATP1A4 480 genome.wustl.edu 37 1 160151574 160151574 + Missense_Mutation SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_144699.3 +1 reviewed p.R946H 1.000 251 0% 362 21.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cation_ATPase_C,superfamily_Calcium ATPase transmembrane domain M ADAMTS4 9507 genome.wustl.edu 37 1 161163074 161163074 + Missense_Mutation SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_005099.4 -1 reviewed p.A614T 1.000 23 0% 16 25% 0 - possibly_damaging(0.76) tolerated(0.16) neutral(0.341) NULL RGS5 8490 genome.wustl.edu 37 1 163117162 163117162 + Silent SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_003617.3 -1 validated p.R172 1.000 245 0% 434 19.6% 7 0% - - - HMMPfam_RGS,HMMSmart_SM00315,superfamily_Regulator of G-protein signaling RGS PIGC 5279 genome.wustl.edu 37 1 172411227 172411227 + Missense_Mutation SNP A A G novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_002642.3 -1 reviewed p.L179S 1.000 87 0% 148 15.5% 46 15.2% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_GPI2 TNR 7143 genome.wustl.edu 37 1 175293595 175293595 + Missense_Mutation SNP A A G novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_003285.2 -1 validated p.V1285A 1.000 507 0% 613 19.1% 0 - benign(0) tolerated(0.05) neutral(0.345) HMMPfam_Fibrinogen_C,HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like RNASEL 6041 genome.wustl.edu 37 1 182554499 182554499 + Silent SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_021133.2 -1 reviewed p.Y481 0.015 318 0% 440 25.7% 0 - - - - HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) LAMC1 3915 genome.wustl.edu 37 1 183109552 183109552 + Missense_Mutation SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_002293.3 +1 reviewed p.A1496V 1.000 106 0% 226 18.6% 58 17.2% benign(0.013) tolerated(1) neutral(0.001) NULL HMCN1 83872 genome.wustl.edu 37 1 186084537 186084537 + Missense_Mutation SNP A A G novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_031935.2 +1 reviewed p.N3851S 1.000 143 0% 225 16.9% 0 - probably_damaging(1) tolerated(0.29) deleterious(0.529) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin PTPRC 5788 genome.wustl.edu 37 1 198704353 198704353 + Missense_Mutation SNP A A G novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_002838.3 +1 reviewed p.Y790C 1.000 146 0% 210 15.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II KDM5B 10765 genome.wustl.edu 37 1 202710666 202710666 + Missense_Mutation SNP T T C novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_006618.3 -1 validated p.Q925R 0.992 45 0% 116 17.2% 6 0% benign(0.001) tolerated(0.64) neutral(0.003) HMMPfam_PLU-1 CR1 1378 genome.wustl.edu 37 1 207783009 207783009 + Missense_Mutation SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_000651.4 +1 reviewed p.P2091S 0.027 30 0% 28 67.9% 0 - probably_damaging(0.954) tolerated(0.06) deleterious(0.720) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain HSD11B1 3290 genome.wustl.edu 37 1 209879205 209879205 + Silent SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_005525.2 +1 reviewed p.I46 0.665 180 0% 290 17.9% 0 - - - - HMMPfam_adh_short,superfamily_NAD(P)-binding Rossmann-fold domains NEK2 4751 genome.wustl.edu 37 1 211847677 211847677 + Missense_Mutation SNP C C A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_002497.2 -1 validated p.G92V 1.000 114 0% 157 22.9% 4 75% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase NENF 29937 genome.wustl.edu 37 1 212619247 212619247 + Missense_Mutation SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_013349.4 +1 reviewed p.V140I 1.000 237 0.4% 328 24.1% 315 21.9% probably_damaging(0.986) tolerated(0.05) deleterious(0.780) HMMPfam_Cyt-b5,superfamily_Cyt_B5 JMJD4 65094 genome.wustl.edu 37 1 227920313 227920313 + Missense_Mutation SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_023007.2 -1 validated p.A391V 1.000 6 0.000 19 0.211 28 42.8% benign(0.16) tolerated(0.06) neutral(0.337) NULL TAF5L 27097 genome.wustl.edu 37 1 229750202 229750202 + Missense_Mutation SNP G G C novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_014409.3 -1 reviewed p.Q10E 1.000 114 0% 192 21.9% 0 - benign(0.119) tolerated(0.06) neutral(0.332) NULL ACTN2 88 genome.wustl.edu 37 1 236925836 236925836 + Missense_Mutation SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_001103.2 +1 reviewed p.A868T 0.009 16 0% 38 31.6% 0 - benign(0.001) deleterious(0.03) neutral(0.364) HMMPfam_efhand_Ca_insen,superfamily_EF-hand RYR2 6262 genome.wustl.edu 37 1 237813271 237813271 + Missense_Mutation SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_001035.2 +1 reviewed p.A2536V 1.000 178 0.6% 342 20.8% 0 - possibly_damaging(0.932) - - NULL FMN2 56776 genome.wustl.edu 37 1 240341299 240341299 + Nonsense_Mutation SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_020066.4 +1 validated p.R621* 0.763 158 0% 227 24.2% 0 - - - - NULL HNRNPU 3192 genome.wustl.edu 37 1 245027595 245027595 + Silent SNP A A G novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_031844.2 -1 reviewed p.P5 0.998 7 0.000 14 0.357 8 37.5% - - - superfamily_SAP domain KIF26B 55083 genome.wustl.edu 37 1 245583046 245583046 + Nonsense_Mutation SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_018012.3 +1 provisional p.R389* 0.998 129 0% 208 13% 0 - - - - NULL SLC4A1AP 22950 genome.wustl.edu 37 2 27900641 27900641 + Missense_Mutation SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_018158.2 +1 validated p.A538V 0.994 212 0% 193 34.2% 3 0% possibly_damaging(0.95) tolerated(0.06) deleterious(0.716) NULL QPCT 25797 genome.wustl.edu 37 2 37596908 37596908 + Silent SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_012413.3 +1 reviewed p.F268 0.630 430 0% 421 32.8% 3 0% - - - HMMPfam_Peptidase_M28,superfamily_Zn-dependent exopeptidases FAM161A 84140 genome.wustl.edu 37 2 62069326 62069326 + Missense_Mutation SNP T T C novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_032180.2 -1 validated p.Q118R 0.997 183 0% 147 39.5% 0 - probably_damaging(0.995) tolerated(0.41) deleterious(0.473) NULL ZNF638 27332 genome.wustl.edu 37 2 71650385 71650387 + In_Frame_Del DEL AGA AGA - novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_001014972.1 +1 reviewed p.E1248in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL RTKN 6242 genome.wustl.edu 37 2 74655844 74655844 + Missense_Mutation SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_001015055.1 -1 reviewed p.P291S 1.000 33 0% 26 34.6% 14 42.8% probably_damaging(1) tolerated(0.07) deleterious(0.819) NULL MOGS 7841 genome.wustl.edu 37 2 74691657 74691657 + Missense_Mutation SNP C C A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_006302.2 -1 reviewed p.G182V 1.000 36 0% 33 42.4% 8 12.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_hydro_63 KDM3A 55818 genome.wustl.edu 37 2 86709196 86709196 + Silent SNP C C A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_018433.5 +1 reviewed p.R886 1.000 260 0% 299 34.1% 7 85.7% - - - NULL ZNF2 7549 genome.wustl.edu 37 2 95847741 95847741 + Missense_Mutation SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 ENST00000453539 +1 known p.R403C 1.000 87 0% 86 27.9% 5 40% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CNGA3 1261 genome.wustl.edu 37 2 99013075 99013075 + Missense_Mutation SNP G G T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_001298.2 +1 reviewed p.R481L 0.999 35 0% 29 51.7% 0 - probably_damaging(0.992) deleterious(0.02) deleterious(0.831) superfamily_cNMP_binding LONRF2 164832 genome.wustl.edu 37 2 100915336 100915336 + Missense_Mutation SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_198461.3 -1 validated p.A480T 0.999 267 0% 211 18% 1 0% benign(0) tolerated(0.25) neutral(0.037) HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_TPR-like,superfamily_RING/U-box SOWAHC 65124 genome.wustl.edu 37 2 110373439 110373439 + Missense_Mutation SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_023016.3 +1 validated p.R458H 0.997 33 0% 39 38.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL NCKAP5 344148 genome.wustl.edu 37 2 133540153 133540153 + Missense_Mutation SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_207363.2 -1 validated p.R1411C 0.000 29 0% 39 38.5% 0 - benign(0.142) deleterious(0) neutral(0.457) NULL BAZ2B 29994 genome.wustl.edu 37 2 160176837 160176837 + Missense_Mutation SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_013450.2 -1 validated p.A2149V 1.000 190 0% 153 42.5% 8 0% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain FIGN 55137 genome.wustl.edu 37 2 164467065 164467065 + Missense_Mutation SNP A A G novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_018086.2 -1 validated p.V426A 0.896 268 0% 238 38.2% 0 - benign(0) tolerated(0.07) neutral(0.319) NULL SCN3A 6328 genome.wustl.edu 37 2 165947743 165947743 + Silent SNP C C G novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_006922.3 -1 reviewed p.G1640 0.992 394 0% 371 15.4% 0 - - - - HMMPfam_Ion_trans,superfamily_SSF81324 SCN1A 6323 genome.wustl.edu 37 2 166848233 166848233 + Missense_Mutation SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_006920.4 -1 reviewed p.A1840V 1.000 375 0% 447 33.6% 0 - possibly_damaging(0.884) tolerated(0.13) deleterious(0.597) NULL TTN 7273 genome.wustl.edu 37 2 179443407 179443407 + Nonsense_Mutation SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_133378.4 -1 reviewed p.W20185* 1.000 77 0% 53 34% 0 - benign(0.001) - - NULL TTN 7273 genome.wustl.edu 37 2 179632509 179632509 + Nonsense_Mutation SNP G G A rs146572907 by1000genomes TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_133379.3 -1 reviewed p.R3150* 1.000 339 0% 323 35.3% 0 - - - - HMMPfam_I-set,superfamily_SSF48726 ZC3H15 55854 genome.wustl.edu 37 2 187371444 187371444 + Missense_Mutation SNP A A C novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_018471.2 +1 validated p.D324A 1.000 117 0% 112 39.3% 5 0% benign(0.032) tolerated(0.1) neutral(0.288) NULL ATIC 471 genome.wustl.edu 37 2 216203588 216203588 + Silent SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 ENST00000426233 +1 known p.R64* 0.733 184 0% 200 32% 68 41.1% - - - HMMPfam_AICARFT_IMPCHas,HMMSmart_SM00798,superfamily_AICAR transformylase domain of bifunctional purine biosynthesis enzyme ATIC PID1 55022 genome.wustl.edu 37 2 229890532 229890532 + Missense_Mutation SNP T T C novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_017933.4 -1 validated p.D188G 1.000 114 0% 99 30.3% 0 - benign(0.328) tolerated(0.13) neutral(0.355) superfamily_SSF50729 LOC100289441 100289441 genome.wustl.edu 37 3 9986125 9986125 + Missense_Mutation SNP C C A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 XM_002342359.1 -1 model p.Q25H 1.000 48 0% 92 34.8% 16 12.5% - - - NULL LRRC3B 116135 genome.wustl.edu 37 3 26751671 26751671 + Missense_Mutation SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_052953.2 +1 provisional p.V170M 1.000 108 0% 74 36.5% 0 - benign(0.275) deleterious(0) deleterious(0.474) superfamily_SSF52058 LRRFIP2 9209 genome.wustl.edu 37 3 37146969 37146969 + Missense_Mutation SNP T T C novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_006309.2 -1 validated p.S254G 1.000 172 0% 167 40.7% 0 - benign(0.098) tolerated(0.37) neutral(0.026) HMMPfam_DUF2051 PLXNB1 5364 genome.wustl.edu 37 3 48456737 48456737 + Missense_Mutation SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_001130082.1 -1 validated p.V1272I 0.988 6 0.000 9 0.556 12 25% possibly_damaging(0.849) tolerated(0.09) deleterious(0.623) HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains CELSR3 1951 genome.wustl.edu 37 3 48694537 48694537 + Silent SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_001407.2 -1 reviewed p.S1331 0.227 8 0.000 10 0.500 0 - - - - NULL CDHR4 389118 genome.wustl.edu 37 3 49836314 49836314 + Missense_Mutation SNP G G T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_001007540.2 -1 provisional p.P147H 0.847 14 0% 22 45.5% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL DNAH1 25981 genome.wustl.edu 37 3 52400858 52400858 + Missense_Mutation SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_015512.4 +1 validated p.T1907M 0.998 45 0% 26 23.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases GBE1 2632 genome.wustl.edu 37 3 81630361 81630361 + Silent SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_000158.3 -1 reviewed p.G467D 0.997 126 0% 83 31.3% 2 50% - - - NULL COL8A1 1295 genome.wustl.edu 37 3 99513797 99513797 + Missense_Mutation SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_001850.3 +1 reviewed p.G351E 1.000 23 0% 15 46.7% 1 0% unknown(0) deleterious(0) - NULL TRAT1 50852 genome.wustl.edu 37 3 108572633 108572633 + Missense_Mutation SNP C C A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_016388.2 +1 validated p.S157Y 0.003 156 0% 163 40.5% 0 - possibly_damaging(0.745) deleterious(0.01) deleterious(0.679) NULL SIDT1 54847 genome.wustl.edu 37 3 113285274 113285274 + Missense_Mutation SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_017699.2 +1 validated p.A77V 0.951 203 0% 170 31.2% 0 - probably_damaging(0.99) tolerated(0.17) deleterious(0.500) NULL NPHP3 27031 genome.wustl.edu 37 3 132403536 132403536 + Silent SNP T T C novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_153240.3 -1 reviewed p.L1144 0.042 120 0% 92 30.4% 2 100% - - - HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like ESYT3 83850 genome.wustl.edu 37 3 138191606 138191606 + Silent SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_031913.3 +1 validated p.F714 0.998 66 0% 75 41.3% 1 0% - - - NULL PIK3CB 5291 genome.wustl.edu 37 3 138461602 138461602 + Missense_Mutation SNP A A G novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_006219.1 -1 provisional p.L140S 1.000 215 0.9% 189 30.2% 0 - possibly_damaging(0.623) deleterious(0) deleterious(0.661) superfamily_SSF54236 PHC3 80012 genome.wustl.edu 37 3 169820422 169820422 + Missense_Mutation SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_024947.3 -1 validated p.R893H 0.999 168 0.6% 196 35.2% 10 20% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) NULL PIK3CA 5290 genome.wustl.edu 37 3 178916944 178916944 + Missense_Mutation SNP A A G novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_006218.2 +1 reviewed p.K111E 1.000 220 0% 219 37% 3 100% probably_damaging(0.984) deleterious(0.04) deleterious(0.779) superfamily_SSF54236 EIF4A2 1974 genome.wustl.edu 37 3 186505598 186505598 + Missense_Mutation SNP G G T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_001967.3 +1 validated p.G336W 1.000 113 0% 141 36.9% 81 37% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases FAM193A 8603 genome.wustl.edu 37 4 2692615 2692615 + Silent SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_003704.3 +1 validated p.T616 0.086 85 0% 48 37.5% 3 33.3% - - - NULL KIAA0232 9778 genome.wustl.edu 37 4 6826188 6826188 + Missense_Mutation SNP C C A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_001100590.1 +1 validated p.P3H 0.998 164 0% 167 32.3% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL FBXL5 26234 genome.wustl.edu 37 4 15627095 15627095 + Missense_Mutation SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_012161.2 -1 reviewed p.A544T 0.252 54 0% 78 34.6% 11 45.4% benign(0) tolerated(0.44) neutral(0.013) superfamily_RNI-like GC 2638 genome.wustl.edu 37 4 72634136 72634136 + Missense_Mutation SNP T T A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_000583.2 -1 reviewed p.Y48F 0.993 89 0% 75 37.3% 0 - benign(0.367) tolerated(0.77) neutral(0.118) superfamily_Serum albumin-like,HMMPfam_Serum_albumin,HMMSmart_SM00103 ALB 213 genome.wustl.edu 37 4 74283930 74283930 + Silent SNP T T C novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 ENST00000511370 +1 known p.*363R 0.743 261 0% 244 39.8% 0 - - - - superfamily_Serum albumin-like,HMMPfam_Serum_albumin,HMMSmart_SM00103 MTHFD2L 441024 genome.wustl.edu 37 4 75065631 75065631 + Missense_Mutation SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_001144978.1 +1 provisional p.A191V 1.000 144 0% 168 33.3% 0 - possibly_damaging(0.892) deleterious(0) deleterious(0.796) HMMPfam_THF_DHG_CYH_C,superfamily_NAD(P)-binding Rossmann-fold domains NEIL3 55247 genome.wustl.edu 37 4 178243640 178243640 + Nonsense_Mutation SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_018248.2 +1 validated p.Q62* 0.000 453 0% 420 34.3% 6 33.3% - - - superfamily_N-terminal domain of MutM-like DNA repair proteins LRP2BP 55805 genome.wustl.edu 37 4 186291888 186291888 + Missense_Mutation SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_018409.3 -1 validated p.G295D 1.000 92 0% 84 34.5% 2 100% probably_damaging(0.99) deleterious(0) deleterious(0.886) superfamily_HCP-like ADAMTS16 170690 genome.wustl.edu 37 5 5209253 5209253 + Missense_Mutation SNP A A T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_139056.2 +1 reviewed p.E500V 0.992 321 0% 321 37.7% 0 - probably_damaging(0.987) tolerated(0.14) deleterious(0.686) NULL TRIM23 373 genome.wustl.edu 37 5 64887675 64887675 + Missense_Mutation SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_001656.3 -1 reviewed p.R549Q 1.000 195 0% 218 36.2% 0 - probably_damaging(0.997) tolerated(0.06) deleterious(0.788) HMMSmart_SM00175,HMMSmart_SM00178,HMMSmart_SM00177,PatternScan_ARF,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases CSNK1G3 1456 genome.wustl.edu 37 5 122927046 122927046 + Missense_Mutation SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_001044723.1 +1 validated p.A342T 1.000 206 0% 189 33.3% 3 66.6% benign(0.001) tolerated(0.32) neutral(0.024) NULL SLC12A2 6558 genome.wustl.edu 37 5 127497359 127497359 + Missense_Mutation SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_001046.2 +1 validated p.R828Q 1.000 54 0% 46 39.1% 18 0% probably_damaging(0.973) tolerated(0.37) neutral(0.434) NULL IK 3550 genome.wustl.edu 37 5 140032592 140032593 + Frame_Shift_Ins INS - - GA novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_006083.3 +1 reviewed p.R93fs 1.000:1.000 - - - - - - - - - HMMPfam_RED_N PCDHA13 56136 genome.wustl.edu 37 5 140263206 140263206 + Silent SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_018904.2 +1 reviewed p.N451 1.000 51 0% 69 42% 0 - - - - HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like PCDHGC5 56097 genome.wustl.edu 37 5 140871069 140871069 + Silent SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_018929.2 +1 reviewed p.D754 0.596 57 0% 67 44.8% 0 - - - - NULL GABRG2 2566 genome.wustl.edu 37 5 161524689 161524689 + Missense_Mutation SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_198903.2 +1 reviewed p.R125C 1.000 311 0% 389 39.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like ZNF184 7738 genome.wustl.edu 37 6 27420591 27420591 + Silent SNP G G T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_007149.2 -1 validated p.P249 0.991 621 0% 428 32.7% 0 - - - - superfamily_C2H2 and C2HC zinc fingers PRRC2A 7916 genome.wustl.edu 37 6 31600147 31600147 + Missense_Mutation SNP G G T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_080686.2 +1 reviewed p.G1233C 0.124 39 0% 33 24.2% 17 41.1% probably_damaging(1) tolerated(0.08) deleterious(0.800) NULL PRRC2A 7916 genome.wustl.edu 37 6 31600203 31600203 + Missense_Mutation SNP G G T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_080686.2 +1 reviewed p.Q1251H 1.000 50 0% 51 35.3% 18 16.6% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL TNXB 7148 genome.wustl.edu 37 6 32049263 32049263 + Silent SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_019105.6 -1 reviewed p.A1308 0.000 43 0% 35 34.3% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III TAPBP 6892 genome.wustl.edu 37 6 33273011 33273011 + Missense_Mutation SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_003190.4 -1 reviewed p.R208H 1.000 41 0% 35 37.1% 21 14.2% probably_damaging(1) tolerated(0.26) deleterious(0.534) NULL TFAP2D 83741 genome.wustl.edu 37 6 50681798 50681798 + Silent SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_172238.3 +1 validated p.H10 1.000 259 0% 236 36.9% 0 - - - - NULL KCNQ5 56479 genome.wustl.edu 37 6 73751664 73751664 + Silent SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_019842.3 +1 reviewed p.F165 0.998 536 0% 492 39.6% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CD109 135228 genome.wustl.edu 37 6 74521932 74521932 + Missense_Mutation SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_133493.3 +1 reviewed p.A1236V 0.786 185 0% 221 32.6% 1 0% benign(0.005) tolerated(0.34) neutral(0.023) NULL SYNCRIP 10492 genome.wustl.edu 37 6 86332381 86332381 + Missense_Mutation SNP T T C novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_006372.4 -1 validated p.Y276C 1.000 374 0% 347 42.9% 12 16.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD MAP3K7 6885 genome.wustl.edu 37 6 91266269 91266269 + Missense_Mutation SNP A A G novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_145331.1 -1 reviewed p.M186T 1.000 188 0% 194 33% 4 0% possibly_damaging(0.88) tolerated(0.19) neutral(0.393) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase RPA3 6119 genome.wustl.edu 37 7 7677605 7677605 + Splice_Site SNP T T C novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_002947.3 -1 validated e3-2 0.998 131 0% 124 37.9% 2 0% - - - - ABCA13 154664 genome.wustl.edu 37 7 48313304 48313304 + Silent SNP T T C novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_152701.3 +1 reviewed p.A1347 0.037 48 2.1% 58 27.6% 0 - - - - NULL ABCB1 5243 genome.wustl.edu 37 7 87225099 87225099 + Missense_Mutation SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_000927.3 -1 reviewed p.V34I 1.000 147 0% 187 41.2% 0 - unknown(0) deleterious(0) - superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ADAM22 53616 genome.wustl.edu 37 7 87759724 87759724 + Missense_Mutation SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_021723.2 +1 reviewed p.V259I 0.992 197 0% 160 37.5% 0 - benign(0.429) tolerated(0.28) neutral(0.171) "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" TRRAP 8295 genome.wustl.edu 37 7 98576479 98576479 + Silent SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 ENST00000456197 +1 known p.A2577V 0.996 42 0% 48 41.7% 0 - - - - HMMPfam_FAT,superfamily_ARM repeat,superfamily_Protein prenylyltransferase FSCN3 29999 genome.wustl.edu 37 7 127235937 127235937 + Missense_Mutation SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_020369.1 +1 provisional p.H241Y 0.010 114 0% 95 36.8% 0 - benign(0.335) tolerated(0.07) neutral(0.424) superfamily_Actin_crosslink IRF5 3663 genome.wustl.edu 37 7 128587352 128587381 + Splice_Site DEL ACTCTGCAGCCGCCCACTCTGCGGCCGCCT ACTCTGCAGCCGCCCACTCTGCGGCCGCCT - novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 ACTCTGCAGCCGCCCACTCTGCGGCCGCCT ACTCTGCAGCCGCCCACTCTGCGGCCGCCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_001098627.2 +1 reviewed e5+1 0.766:0.707:0.638:0.562:0.538:0.511:0.480:0.444:0.402:0.360:0.317:0.273:0.262:0.251:0.239:0.226:0.213:0.199:0.185:0.170:0.155:0.138:0.122:0.120:0.118:0.116:0.113:0.110:0.107:0.104 - - - - - - - - - - AHCYL2 23382 genome.wustl.edu 37 7 129028949 129028949 + Silent SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 ENST00000466924 +1 known p.S83N 1.000 217 0% 208 38.9% 1 0% - - - NULL C7orf45 136263 genome.wustl.edu 37 7 129847928 129847928 + Missense_Mutation SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_145268.3 +1 validated p.V60I 0.839 304 0% 283 36.4% 0 - benign(0.094) tolerated(0.34) neutral(0.030) NULL NUP205 23165 genome.wustl.edu 37 7 135304210 135304210 + Missense_Mutation SNP G G C novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_015135.2 +1 validated p.V1335L 0.999 105 0% 109 35.8% 7 28.5% possibly_damaging(0.88) tolerated(0.2) neutral(0.392) NULL KIAA1147 57189 genome.wustl.edu 37 7 141385359 141385359 + Missense_Mutation SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_001080392.1 -1 provisional p.A149V 0.996 172 0% 148 15.5% 2 0% possibly_damaging(0.568) tolerated(0.37) neutral(0.213) HMMPfam_DUF2347 CUL1 8454 genome.wustl.edu 37 7 148451124 148451124 + Missense_Mutation SNP G G T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_003592.2 +1 validated p.G66V 1.000 86 0% 101 31.7% 5 0% benign(0.028) tolerated(0.08) neutral(0.301) HMMPfam_Cullin,superfamily_Cullin repeat NOM1 64434 genome.wustl.edu 37 7 156759022 156759022 + Missense_Mutation SNP C C A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_138400.1 +1 provisional p.L698I 1.000 138 0% 179 38% 2 100% probably_damaging(0.991) tolerated(0.11) deleterious(0.716) HMMPfam_MA3,HMMSmart_MA3 SLC39A14 23516 genome.wustl.edu 37 8 22273681 22273681 + Silent SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_001128431.2 +1 validated p.G345 1.000 68 0% 61 31.1% 5 0% - - - HMMPfam_Zip ADAM7 8756 genome.wustl.edu 37 8 24350032 24350032 + Missense_Mutation SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 ENST00000380789 +1 known p.C526Y 0.998 150 0% 199 41.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ADAM_CR,HMMSmart_SM00608 IDO2 169355 genome.wustl.edu 37 8 39873100 39873100 + Silent SNP A A G novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_194294.2 +1 validated p.S414 0.000 228 0% 217 35.9% 0 - - - - HMMPfam_IDO AGPAT6 137964 genome.wustl.edu 37 8 41476434 41476434 + Silent SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_178819.3 +1 validated p.V400 0.989 33 0% 36 16.7% 43 16.2% - - - NULL SNTG1 54212 genome.wustl.edu 37 8 51569577 51569577 + Missense_Mutation SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_018967.2 +1 reviewed p.A320T 0.998 212 0% 172 14.5% 0 - benign(0) tolerated(1) - HMMSmart_SM00233,superfamily_PH domain-like MTFR1 9650 genome.wustl.edu 37 8 66605984 66605984 + Missense_Mutation SNP G G T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_014637.3 +1 reviewed p.A91S 0.996 55 0% 44 43.2% 3 33.3% benign(0.007) tolerated(0.5) neutral(0.010) HMMPfam_DUF729 PABPC1 26986 genome.wustl.edu 37 8 101721709 101721709 + Missense_Mutation SNP T T C novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_002568.3 -1 validated p.Y408C 1.000 217 0% 189 17.5% 627 9.4% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL FBXO32 114907 genome.wustl.edu 37 8 124526528 124526528 + Missense_Mutation SNP T T C novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_058229.2 -1 reviewed p.I140V 1.000 51 0% 59 40.7% 2 0% benign(0) tolerated(0.94) - NULL KCNQ3 3786 genome.wustl.edu 37 8 133196530 133196530 + Missense_Mutation SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_004519.2 -1 reviewed p.R188W 1.000 202 0% 175 27.4% 0 - probably_damaging(1) tolerated(0.3) deleterious(0.528) HMMPfam_Ion_trans,superfamily_SSF81324 TG 7038 genome.wustl.edu 37 8 133918935 133918935 + Missense_Mutation SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_003235.4 +1 reviewed p.P1213S 0.995 35 0% 26 30.8% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_SM00211 ST3GAL1 6482 genome.wustl.edu 37 8 134478220 134478220 + Silent SNP C C A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_003033.3 -1 reviewed p.R140 1.000 64 0% 36 33.3% 0 - - - - HMMPfam_Glyco_transf_29 AK3 50808 genome.wustl.edu 37 9 4719209 4719211 + In_Frame_Del DEL GTT GTT - novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 GTT GTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_016282.2 -1 validated p.Q123in_frame_del 0.999:0.774:0.958 - - - - - - - - - HMMPfam_ADK,superfamily_SSF52540 CER1 9350 genome.wustl.edu 37 9 14720245 14720245 + Missense_Mutation SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_005454.2 -1 reviewed p.T216M 0.531 145 0% 186 40.9% 0 - benign(0.008) tolerated(0.15) neutral(0.241) HMMPfam_DAN,HMMSmart_CT TJP2 9414 genome.wustl.edu 37 9 71851948 71851948 + Missense_Mutation SNP G G T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_004817.3 +1 reviewed p.R692M 1.000 190 0.5% 240 35% 5 40% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SH3-domain,HMMSmart_SM00072 TRPM6 140803 genome.wustl.edu 37 9 77353322 77353322 + Splice_Site SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_017662.4 -1 reviewed e36+1 1.000 152 0% 152 28.3% 0 - - - - - PRUNE2 158471 genome.wustl.edu 37 9 79328552 79328552 + Missense_Mutation SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_015225.2 -1 validated p.S281N 0.350 43 0% 22 31.8% 0 - benign(0.042) deleterious(0.01) neutral(0.408) NULL VPS13A 23230 genome.wustl.edu 37 9 79895123 79895123 + Missense_Mutation SNP T T C novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_033305.2 +1 reviewed p.M958T 0.949 175 0.6% 145 31.7% 0 - benign(0.001) tolerated(0.4) neutral(0.016) NULL FAM75C1 441452 genome.wustl.edu 37 9 90536629 90536629 + Missense_Mutation SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_001145124.1 +1 validated p.R603C 0.001 285 0% 288 41.7% 0 - - - - NULL NOL8 55035 genome.wustl.edu 37 9 95063896 95063896 + Missense_Mutation SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_017948.5 -1 validated p.A1038T 0.000 34 0% 42 38.1% 18 22.2% benign(0.03) tolerated(0.09) neutral(0.298) NULL NUP214 8021 genome.wustl.edu 37 9 134004848 134004848 + Silent SNP G G T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_005085.2 +1 reviewed p.T192 0.000 187 0.5% 243 42% 0 - - - - HMMSmart_SM00320,superfamily_WD40 repeat-like RAPGEF1 2889 genome.wustl.edu 37 9 134504617 134504617 + Silent SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_198679.1 -1 reviewed p.D256 0.963 61 0% 59 44.1% 1 0% - - - NULL FAM208B 54906 genome.wustl.edu 37 10 5790624 5790624 + Missense_Mutation SNP T T C novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_017782.4 +1 validated p.V1747A 0.000 77 1.3% 73 19.2% 2 0% benign(0.001) tolerated(1) - NULL FAM171A1 221061 genome.wustl.edu 37 10 15255183 15255184 + Frame_Shift_Ins INS - - A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_001010924.1 -1 validated p.G801fs 0.999:0.869 - - - - - - - - - HMMPfam_UPF0560 SVIL 6840 genome.wustl.edu 37 10 29821797 29821797 + Missense_Mutation SNP G G T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_021738.2 -1 reviewed p.P500H 0.001 157 0% 126 36.5% 0 - benign(0.029) tolerated(0.14) neutral(0.251) NULL NAMPTL 646309 genome.wustl.edu 37 10 36811915 36811915 + Silent SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 ENST00000440465 -1 known p.T416 1.000 138 0% 130 42.3% 0 - - - - HMMPfam_NAPRTase BICC1 80114 genome.wustl.edu 37 10 60548140 60548140 + Missense_Mutation SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_001080512.1 +1 reviewed p.A186V 1.000 82 0% 98 35.7% 0 - probably_damaging(0.99) tolerated(0.06) deleterious(0.764) HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) TTC18 118491 genome.wustl.edu 37 10 75101254 75101255 + Frame_Shift_Ins INS - - T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_145170.3 -1 validated p.I232fs 1.000:1.000 - - - - - - - - - NULL SYNPO2L 79933 genome.wustl.edu 37 10 75407268 75407268 + Silent SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_001114133.1 -1 validated p.P714 0.990 64 0% 47 44.7% 0 - - - - NULL PTEN 5728 genome.wustl.edu 37 10 89692904 89692904 + Missense_Mutation SNP C C G rs121909224 byCluster TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 ENST00000371953 +1 known p.R130G 1.000 412 0% 378 37% 32 21.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DSPc,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II PTEN 5728 genome.wustl.edu 37 10 89717778 89717778 + Splice_Site SNP T T C novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 ENST00000371953 +1 known e7+2 1.000 249 0% 283 37.5% 0 - - - - - ACTA2 59 genome.wustl.edu 37 10 90699335 90699335 + Missense_Mutation SNP T T C novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_001141945.1 -1 reviewed p.D246G 0.998 91 0% 100 23% 246 0% benign(0.013) - - HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain CNNM1 26507 genome.wustl.edu 37 10 101147663 101147663 + Silent SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_020348.2 +1 validated p.D809 0.026 37 2.7% 40 35% 0 - - - - NULL HPS6 79803 genome.wustl.edu 37 10 103825926 103825926 + Missense_Mutation SNP G G T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_024747.4 +1 reviewed p.R232L 0.000 38 0% 37 27% 5 0% benign(0.007) tolerated(0.72) neutral(0.002) NULL FGFR2 2263 genome.wustl.edu 37 10 123274774 123274774 + Missense_Mutation SNP A A G rs121913474 TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_022970.3 -1 reviewed p.C383R 1.000 141 0% 99 31.3% 3 33.3% possibly_damaging(0.477) deleterious(0.01) deleterious(0.563) NULL MKI67 4288 genome.wustl.edu 37 10 129905111 129905112 + Frame_Shift_Ins INS - - TG novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_002417.4 -1 reviewed p.E1664fs 0.000:0.000 - - - - - - - - - HMMPfam_K167R KNDC1 85442 genome.wustl.edu 37 10 135027554 135027554 + Silent SNP A A G novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_152643.6 +1 validated p.L1535 0.140 30 0% 26 19.2% 0 - - - - HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF TUBGCP2 10844 genome.wustl.edu 37 10 135106648 135106648 + Missense_Mutation SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_006659.2 -1 validated p.V307M 0.997 12 0.000 8 0.625 7 57.1% probably_damaging(0.964) deleterious(0) deleterious(0.851) HMMPfam_Spc97_Spc98 OR52E2 119678 genome.wustl.edu 37 11 5080614 5080614 + Missense_Mutation SNP T T C novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_001005164.2 -1 validated p.K82E 0.979 193 0% 149 31.5% 0 - possibly_damaging(0.753) deleterious(0) deleterious(0.721) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like TRIM5 85363 genome.wustl.edu 37 11 5686429 5686429 + Silent SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_033034.2 -1 reviewed p.D364 0.992 681 0.1% 487 11.7% 1 0% - - - HMMPfam_SPRY,HMMSmart_SM00449 SBF2 81846 genome.wustl.edu 37 11 9864283 9864283 + Missense_Mutation SNP T T C novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_030962.3 -1 reviewed p.R1049G 1.000 144 0% 144 34% 0 - benign(0.155) deleterious(0) neutral(0.458) NULL MICAL2 9645 genome.wustl.edu 37 11 12261110 12261110 + Missense_Mutation SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_014632.2 +1 provisional p.R731Q 0.996 91 0% 67 52.2% 2 50% possibly_damaging(0.451) tolerated(0.47) neutral(0.159) NULL RAG2 5897 genome.wustl.edu 37 11 36614412 36614412 + Missense_Mutation SNP G G C novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_000536.3 -1 reviewed p.T436S 1.000 116 0% 102 37.3% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_RAG2 RAG2 5897 genome.wustl.edu 37 11 36615270 36615270 + Missense_Mutation SNP T T C novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_000536.3 -1 reviewed p.K150R 1.000 253 0% 216 13.4% 0 - benign(0.001) tolerated(0.07) neutral(0.319) HMMPfam_RAG2 CD82 3732 genome.wustl.edu 37 11 44639909 44639909 + Silent SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_002231.3 +1 reviewed p.Y212 0.019 7 0.000 14 0.500 21 4.7% - - - superfamily_Tetraspanin,HMMPfam_Tetraspannin OR8J1 219477 genome.wustl.edu 37 11 56127752 56127752 + Silent SNP T T C novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_001005205.1 +1 provisional p.T10 0.110 332 0% 382 35.1% 0 - - - - superfamily_Family A G protein-coupled receptor-like OR5R1 219479 genome.wustl.edu 37 11 56185349 56185349 + Silent SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_001004744.1 -1 provisional p.Y120 0.998 166 0% 171 35.7% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 ZDHHC5 25921 genome.wustl.edu 37 11 57455981 57455981 + Silent SNP T T C novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_015457.2 +1 validated p.A76 1.000 106 0% 89 34.8% 3 0% - - - NULL AHNAK 79026 genome.wustl.edu 37 11 62300112 62300112 + Missense_Mutation SNP T T C novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_001620.1 -1 validated p.R593G 0.040 94 0% 83 10.8% 0 - benign(0.13) tolerated(0.37) neutral(0.030) NULL FERMT3 83706 genome.wustl.edu 37 11 63974956 63974956 + Silent SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_178443.2 +1 reviewed p.S40 0.524 33 0% 30 46.7% 0 - - - - NULL SPDYC 387778 genome.wustl.edu 37 11 64940484 64940484 + Silent SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_001008778.1 +1 provisional p.R282 0.034 69 1.4% 64 54.7% 0 - - - - NULL ODZ4 26011 genome.wustl.edu 37 11 78443601 78443601 + Silent SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_001098816.2 -1 validated p.G966 0.344 65 0% 31 22.6% 0 - - - - NULL STT3A 3703 genome.wustl.edu 37 11 125478178 125478178 + Silent SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_152713.3 +1 validated p.L319 1.000 231 0% 208 32.2% 12 0% - - - HMMPfam_STT3 NFRKB 4798 genome.wustl.edu 37 11 129754722 129754722 + Silent SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_006165.3 -1 validated p.P245 0.987 24 0% 30 56.7% 0 - - - - NULL PRDM10 56980 genome.wustl.edu 37 11 129805068 129805068 + Missense_Mutation SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_020228.2 -1 reviewed p.R362H 1.000 285 0% 249 33.3% 2 50% possibly_damaging(0.926) deleterious(0.01) deleterious(0.780) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF384 171017 genome.wustl.edu 37 12 6778258 6778258 + Missense_Mutation SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_001135734.1 -1 reviewed p.T424M 1.000 76 0% 75 25.3% 11 45.4% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CD4 920 genome.wustl.edu 37 12 6923437 6923439 + In_Frame_Del DEL AGG AGG - novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_000616.3 +1 validated p.E117in_frame_del 0.000:0.000:0.000 - - - - - - - - - HMMSmart_SM00409,superfamily_Immunoglobulin LRRK2 120892 genome.wustl.edu 37 12 40702483 40702483 + Missense_Mutation SNP G G T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_198578.3 +1 reviewed p.V1392L 1.000 105 0% 112 30.4% 2 0% probably_damaging(0.995) deleterious(0.03) deleterious(0.822) HMMPfam_Miro,superfamily_SSF52540 CSRNP2 81566 genome.wustl.edu 37 12 51458139 51458141 + In_Frame_Del DEL TCT TCT - novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_030809.1 -1 provisional p.E340in_frame_del 1.000:1.000:0.995 - - - - - - - - - NULL SLC26A10 65012 genome.wustl.edu 37 12 58014175 58014175 + Missense_Mutation SNP A A G novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_133489.2 +1 validated p.T58A 1.000 631 0% 502 12.7% 0 - probably_damaging(0.988) tolerated(0.23) deleterious(0.479) NULL CAND1 55832 genome.wustl.edu 37 12 67700273 67700273 + Missense_Mutation SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_018448.3 +1 validated p.C942Y 1.000 108 0% 102 40.2% 11 0% possibly_damaging(0.952) tolerated(0.06) deleterious(0.718) superfamily_ARM repeat BEST3 144453 genome.wustl.edu 37 12 70070977 70070977 + Missense_Mutation SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_032735.2 -1 validated p.P233S 1.000 133 0% 80 43.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Bestrophin UTP20 27340 genome.wustl.edu 37 12 101703551 101703551 + Missense_Mutation SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_014503.2 +1 validated p.R722H 1.000 200 0% 160 12.5% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_ARM repeat C12orf51 283450 genome.wustl.edu 37 12 112617164 112617164 + Silent SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_001109662.2 -1 validated p.T3253 0.752 10 0% 15 53.3% 0 - - - - NULL CLIP1 6249 genome.wustl.edu 37 12 122848583 122848583 + Silent SNP G G A rs150042847 by1000genomes TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_002956.2 -1 validated p.G243 0.169 67 0% 58 32.8% 1 0% - - - HMMPfam_CAP_GLY,PatternScan_CAP_GLY_1,superfamily_Cap-Gly domain GPR133 283383 genome.wustl.edu 37 12 131466566 131466566 + Missense_Mutation SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_198827.3 +1 validated p.R150W 0.990 95 0% 87 31% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Concanavalin A-like lectins/glucanases PABPC3 5042 genome.wustl.edu 37 13 25671873 25671873 + Missense_Mutation SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_030979.2 +1 validated p.R513C 1.000 94 0% 101 36.6% 0 - benign(0.082) deleterious(0) neutral(0.451) superfamily_PABC (PABP) domain RCBTB2 1102 genome.wustl.edu 37 13 49076986 49076986 + Missense_Mutation SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_001268.2 -1 reviewed p.V331M 1.000 61 0% 29 48.3% 3 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_RCC1/BLIP-II GPC5 2262 genome.wustl.edu 37 13 92346023 92346023 + Missense_Mutation SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_004466.4 +1 reviewed p.S303L 1.000 103 0% 133 41.4% 0 - benign(0.378) tolerated(0.21) neutral(0.164) HMMPfam_Glypican FARP1 10160 genome.wustl.edu 37 13 99020449 99020449 + Missense_Mutation SNP G G T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_005766.2 +1 reviewed p.R133M 1.000 224 0.4% 193 39.4% 14 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FERM_M,superfamily_Second domain of FERM,HMMSmart_SM00295 WDHD1 11169 genome.wustl.edu 37 14 55493501 55493501 + Missense_Mutation SNP G G T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_007086.2 -1 reviewed p.P2H 1.000 99 1% 62 38.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_WD40_like NEK9 91754 genome.wustl.edu 37 14 75553935 75553935 + Splice_Site SNP T T C novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_033116.4 -1 validated e21-2 0.997 75 0% 65 40% 0 - - - - - CEP128 145508 genome.wustl.edu 37 14 81382836 81382836 + Missense_Mutation SNP G G T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_152446.3 -1 validated p.P19Q 0.823 209 0% 189 34.4% 0 - benign(0.079) tolerated(0.18) neutral(0.061) NULL IGHV5-51 28388 genome.wustl.edu 37 14 107035150 107035150 + Missense_Mutation SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 ENST00000390626 -1 known p.A5T 0.001 35 0% 27 29.6% 2 0% benign(0.021) tolerated(0.2) neutral(0.050) NULL ENSG00000215407 0 genome.wustl.edu 37 15 20444691 20444691 + Missense_Mutation SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 ENST00000400226 -1 known p.M485I 1.000 166 0% 90 12.2% 0 - - - - HMMSmart_SM00228,superfamily_PDZ domain-like C15orf2 23742 genome.wustl.edu 37 15 24921560 24921560 + Silent SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_018958.2 +1 reviewed p.S182 0.000 52 0% 46 43.5% 0 - - - - NULL ADAMTSL3 57188 genome.wustl.edu 37 15 84639294 84639294 + Missense_Mutation SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_207517.2 +1 validated p.A850V 0.995 337 0% 399 31.8% 0 - benign(0.001) tolerated(0.39) neutral(0.016) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat SLX4 84464 genome.wustl.edu 37 16 3641251 3641251 + Missense_Mutation SNP C C A rs113965715 TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_032444.2 -1 provisional p.E796D 0.059 40 0% 50 42% 0 - benign(0.014) tolerated(0.05) neutral(0.346) NULL DCTN5 84516 genome.wustl.edu 37 16 23652886 23652888 + In_Frame_Del DEL ACA ACA - novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 ACA ACA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_032486.2 +1 provisional p.N9in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL ZNF423 23090 genome.wustl.edu 37 16 49559331 49559331 + Missense_Mutation SNP T T C novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_015069.2 -1 reviewed p.I1218V 1.000 45 0% 34 32.4% 3 33.3% benign(0.428) deleterious(0.03) deleterious(0.504) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2 DUS2L 54920 genome.wustl.edu 37 16 68112416 68112416 + Silent SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_017803.3 +1 provisional p.T413 0.774 35 0% 58 44.8% 9 22.2% - - - HMMPfam_dsrm,HMMSmart_SM00358,superfamily_dsRNA-binding domain-like SMPD3 55512 genome.wustl.edu 37 16 68395533 68395533 + Missense_Mutation SNP C C A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_018667.3 -1 validated p.E613D 1.000 23 0% 20 55% 4 0% probably_damaging(0.987) tolerated(0.3) neutral(0.465) HMMPfam_Exo_endo_phos,superfamily_Exo_endo_phos PLCG2 5336 genome.wustl.edu 37 16 81990347 81990347 + Silent SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_002661.2 +1 validated p.R1206 1.000 96 0% 74 23% 15 60% - - - NULL OR3A2 4995 genome.wustl.edu 37 17 3181760 3181760 + Missense_Mutation SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_002551.3 -1 validated p.S157F 0.981 372 0% 317 34.7% 0 - possibly_damaging(0.927) deleterious(0) deleterious(0.820) HMMPfam_7tm_1,superfamily_SSF81321 C17orf85 55421 genome.wustl.edu 37 17 3725323 3725323 + Missense_Mutation SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_001114118.1 -1 provisional p.A274T 1.000 290 0% 250 29.2% 7 71.4% probably_damaging(0.982) tolerated(0.08) deleterious(0.726) NULL USP6 9098 genome.wustl.edu 37 17 5072277 5072277 + Silent SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_004505.2 +1 validated p.S1148 0.002 121 0% 115 34.8% 0 - - - - HMMPfam_UCH,superfamily_Cysteine proteinases DVL2 1856 genome.wustl.edu 37 17 7132917 7132917 + Missense_Mutation SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_004422.2 -1 reviewed p.R246H 1.000 41 0% 27 25.9% 3 0% probably_damaging(0.997) tolerated(0.16) deleterious(0.526) superfamily_PDZ domain-like CHRNB1 1140 genome.wustl.edu 37 17 7358672 7358672 + Missense_Mutation SNP G G C novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_000747.2 +1 reviewed p.E372Q 0.983 110 0% 67 46.3% 0 - benign(0.062) tolerated(0.34) neutral(0.027) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM WDR16 146845 genome.wustl.edu 37 17 9511492 9511492 + Silent SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_145054.4 +1 validated p.A270 0.257 39 0% 66 40.9% 0 - - - - superfamily_WD40 repeat-like ARHGAP44 9912 genome.wustl.edu 37 17 12888090 12888090 + Missense_Mutation SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_014859.4 +1 validated p.P728S 1.000 45 0% 37 40.5% 1 0% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL CACNB1 782 genome.wustl.edu 37 17 37347759 37347759 + Missense_Mutation SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_000723.3 -1 reviewed p.R87C 1.000 89 0% 76 27.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SH3-domain ERBB2 2064 genome.wustl.edu 37 17 37864650 37864650 + Missense_Mutation SNP T T G novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_004448.2 +1 reviewed p.I101S 1.000 56 0% 59 25.4% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Recep_L_domain,superfamily_L domain-like KRT222 125113 genome.wustl.edu 37 17 38813964 38813964 + Missense_Mutation SNP T T C novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_152349.2 -1 validated p.K162R 0.991 112 0% 143 11.2% 0 - probably_damaging(0.989) deleterious(0.02) deleterious(0.823) NULL C17orf57 124989 genome.wustl.edu 37 17 45487056 45487056 + Silent SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_152347.3 +1 provisional p.N759 0.030 587 0.2% 590 36.9% 0 - - - - superfamily_EF-hand TBKBP1 9755 genome.wustl.edu 37 17 45777026 45777026 + Nonsense_Mutation SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_014726.2 +1 validated p.R279* 1.000 159 0% 127 40.2% 3 33.3% - - - NULL SNX11 29916 genome.wustl.edu 37 17 46189967 46189967 + Missense_Mutation SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_013323.2 +1 reviewed p.R25Q 0.999 506 0% 384 37.5% 1 0% probably_damaging(0.976) tolerated(0.2) neutral(0.467) HMMPfam_PX,HMMSmart_PX,superfamily_PX MIR10A 406902 genome.wustl.edu 37 17 46657308 46657310 + RNA DEL TCT TCT - novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 ENST00000385043 -1 known NULL 1.000:1.000 - - - - - - - - - - BRIP1 83990 genome.wustl.edu 37 17 59934534 59934536 + In_Frame_Del DEL ACA ACA - novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 ACA ACA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_032043.1 -1 reviewed p.C88in_frame_del 0.892:0.997:0.999 - - - - - - - - - HMMSmart_SM00488,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases RPTOR 57521 genome.wustl.edu 37 17 78704415 78704415 + Missense_Mutation SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_020761.2 +1 reviewed p.S188N 1.000 49 0% 69 37.7% 0 - benign(0.005) tolerated(0.13) neutral(0.253) NULL DSC3 1825 genome.wustl.edu 37 18 28609519 28609519 + Missense_Mutation SNP T T C novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_001941.3 -1 reviewed p.M144V 0.999 304 0% 262 12.6% 0 - benign(0.001) tolerated(0.65) neutral(0.003) HMMPfam_Cadherin,superfamily_Cadherin-like MCART2 147407 genome.wustl.edu 37 18 29340344 29340344 + Missense_Mutation SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_001034172.2 -1 validated p.T94M 0.999 170 0% 180 31.7% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Mitochondrial carrier,HMMPfam_Mito_carr SLC39A6 25800 genome.wustl.edu 37 18 33692496 33692496 + Missense_Mutation SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_012319.3 -1 validated p.A631V 1.000 268 0% 250 11.6% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Zip FHOD3 80206 genome.wustl.edu 37 18 34320732 34320732 + Silent SNP C C A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_025135.2 +1 validated p.S1055 0.997 87 0% 91 38.5% 2 0% - - - HMMSmart_FH2,HMMPfam_FH2,superfamily_FH2_actin_bd SMAD7 4092 genome.wustl.edu 37 18 46448258 46448258 + Silent SNP A A G novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_005904.2 -1 provisional p.P255 0.999 73 0% 53 45.3% 0 - - - - HMMPfam_MH2,superfamily_SMAD_FHA RTTN 25914 genome.wustl.edu 37 18 67812951 67812951 + Missense_Mutation SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_173630.3 -1 validated p.R793H 1.000 298 0% 397 31% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_ARM repeat FBN3 84467 genome.wustl.edu 37 19 8167628 8167628 + Missense_Mutation SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_032447.3 -1 reviewed p.A1690V 1.000 68 0% 55 36.4% 0 - possibly_damaging(0.659) tolerated(0.25) neutral(0.270) HMMPfam_TB,superfamily_TB module/8-cys domain ZNF177 7730 genome.wustl.edu 37 19 9492334 9492334 + Missense_Mutation SNP G G A rs140200535 by1000genomes TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_003451.2 +1 validated p.V283M 0.054 298 0.7% 316 42.7% 4 50% benign(0) tolerated(0.18) neutral(0.056) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ICAM5 7087 genome.wustl.edu 37 19 10403523 10403523 + Silent SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_003259.3 +1 reviewed p.S399 0.765 15 0% 14 42.9% 1 0% - - - HMMSmart_SM00409,superfamily_Immunoglobulin ZNF491 126069 genome.wustl.edu 37 19 11917795 11917795 + Nonsense_Mutation SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_152356.3 +1 validated p.R343* 0.004 138 0.7% 163 34.4% 1 100% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 LOC440518 440518 genome.wustl.edu 37 19 22785987 22785987 + RNA SNP A A G novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 XR_041921.2 +1 model NULL 0.002 17 0% 15 40% 0 - - - - - LSM14A 26065 genome.wustl.edu 37 19 34706512 34706513 + Frame_Shift_Del DEL AA AA - novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 AA AA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_001114093.1 +1 validated p.K243fs 1.000:1.000 - - - - - - - - - NULL SPTBN4 57731 genome.wustl.edu 37 19 41066292 41066292 + Silent SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_020971.2 +1 reviewed p.G1966 1.000 36 0% 38 31.6% 0 - - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat EXOSC5 56915 genome.wustl.edu 37 19 41897771 41897771 + Missense_Mutation SNP A A G novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_020158.3 -1 validated p.L120P 1.000 53 0% 35 42.9% 26 34.6% probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_RNase_PH,superfamily_Ribosomal_S5_D2-typ_fold ARHGAP35 2909 genome.wustl.edu 37 19 47503727 47503728 + Frame_Shift_Del DEL TT TT - novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 TT TT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_004491.4 +1 reviewed p.F1428fs 1.000:1.000 - - - - - - - - - HMMSmart_SM00324,superfamily_GTPase activation domain GAP SIGLEC16 400709 genome.wustl.edu 37 19 50473392 50473393 + Frame_Shift_Del DEL GA GA - novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 ENST00000417280 +1 known p.G136fs 0.023:0.025 - - - - - - - - - HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin MYH14 79784 genome.wustl.edu 37 19 50755952 50755952 + Silent SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_001077186.1 +1 reviewed p.N629 0.205 27 0.000 9 0.556 10 0% - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases ZNF320 162967 genome.wustl.edu 37 19 53384492 53384492 + Missense_Mutation SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_207333.2 -1 validated p.T296I 1.000 533 0% 377 37.1% 7 57.1% probably_damaging(1) tolerated(0.1) deleterious(0.786) superfamily_SSF57667 PTPRH 5794 genome.wustl.edu 37 19 55697006 55697006 + Missense_Mutation SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_002842.3 -1 validated p.V976M 0.035 25 0% 21 38.1% 0 - possibly_damaging(0.915) deleterious(0.03) deleterious(0.731) HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II NLRP5 126206 genome.wustl.edu 37 19 56539846 56539846 + Silent SNP C C T rs149649207 by1000genomes TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_153447.4 +1 reviewed p.S749 0.000 140 0% 123 33.3% 0 - - - - superfamily_SSF52047 ZNF71 58491 genome.wustl.edu 37 19 57132960 57132960 + Missense_Mutation SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_021216.4 +1 validated p.C102Y 0.000 47 0% 47 21.3% 0 - possibly_damaging(0.49) tolerated(1) neutral(0.163) NULL ZNF835 90485 genome.wustl.edu 37 19 57176341 57176341 + Missense_Mutation SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_001005850.1 -1 provisional p.D98N 0.000 23 0% 25 44% 0 - benign(0.006) deleterious(0.04) neutral(0.349) NULL IDH3B 3420 genome.wustl.edu 37 20 2640405 2640405 + Missense_Mutation SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_006899.2 -1 reviewed p.R317K 1.000 179 0% 152 40.8% 42 33.3% benign(0.001) tolerated(1) - HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like PANK2 80025 genome.wustl.edu 37 20 3888790 3888790 + Silent SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_153638.2 +1 reviewed p.L282 1.000 106 0% 97 33% 0 - - - - HMMPfam_Fumble,superfamily_Actin-like ATPase domain RBM12 10137 genome.wustl.edu 37 20 34240548 34240548 + Silent SNP T T C novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_006047.4 -1 reviewed p.E899 1.000 144 0% 124 38.7% 13 15.3% - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD PLTP 5360 genome.wustl.edu 37 20 44538177 44538177 + Missense_Mutation SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_006227.2 -1 reviewed p.A155T 0.731 60 0% 52 38.5% 11 0% possibly_damaging(0.942) tolerated(0.21) neutral(0.431) HMMPfam_LBP_BPI_CETP,HMMSmart_SM00328,superfamily_Bactericidal permeability-increasing protein BPI PCIF1 63935 genome.wustl.edu 37 20 44567661 44567661 + Missense_Mutation SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_022104.3 +1 validated p.S8N 1.000 16 0% 18 38.9% 8 37.5% benign(0.184) deleterious(0.02) neutral(0.400) NULL ZNFX1 57169 genome.wustl.edu 37 20 47863983 47863983 + Missense_Mutation SNP A A T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_021035.2 -1 validated p.C1860S 1.000 85 0% 88 52.3% 9 33.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL RAE1 8480 genome.wustl.edu 37 20 55948793 55948793 + Missense_Mutation SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_001015885.1 +1 reviewed p.A275V 1.000 330 0% 288 36.1% 12 8.3% possibly_damaging(0.582) deleterious(0.02) deleterious(0.583) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 ZBP1 81030 genome.wustl.edu 37 20 56191173 56191174 + Frame_Shift_Del DEL AG AG - rs68090526 byCluster;by1000genomes TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 ENST00000432548 -1 known p.L129fs 0.000:0.000 - - - - - - - - - NULL EDN3 1908 genome.wustl.edu 37 20 57899426 57899426 + Missense_Mutation SNP T T C novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_000114.2 +1 reviewed p.L210P 0.000 178 0% 166 38% 0 - probably_damaging(0.991) deleterious(0.02) deleterious(0.827) NULL TAF4 6874 genome.wustl.edu 37 20 60589727 60589729 + In_Frame_Del DEL AAC AAC - novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 AAC AAC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_003185.3 -1 reviewed p.L466in_frame_del 0.996:0.988:0.991 - - - - - - - - - NULL BTG3 10950 genome.wustl.edu 37 21 18966451 18966451 + Missense_Mutation SNP C C A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_001130914.1 -1 reviewed p.R284L 1.000 148 0% 149 38.3% 59 35.5% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL CLDN8 9073 genome.wustl.edu 37 21 31587911 31587911 + Silent SNP A A G novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_199328.2 -1 reviewed p.N111 0.005 105 0% 118 38.1% 0 - - - - HMMPfam_PMP22_Claudin ETS2 2114 genome.wustl.edu 37 21 40190562 40190562 + Missense_Mutation SNP A A G novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_005239.4 +1 validated p.N268S 0.000 197 0% 275 38.5% 43 13.9% benign(0) tolerated(0.37) neutral(0.019) NULL DSCAM 1826 genome.wustl.edu 37 21 41648130 41648130 + Silent SNP C C T rs139291190 by1000genomes TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_001389.3 -1 validated p.S750 0.239 49 0% 68 41.2% 0 - - - - HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin CCT8L2 150160 genome.wustl.edu 37 22 17072258 17072258 + Missense_Mutation SNP C C T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_014406.4 -1 validated p.G395S 0.854 43 0% 34 47.1% 0 - probably_damaging(0.99) tolerated(0.06) deleterious(0.764) HMMPfam_Cpn60_TCP1,superfamily_GroEL equatorial domain-like,superfamily_GroEL-intermediate domain like TSSK2 23617 genome.wustl.edu 37 22 19119522 19119522 + Missense_Mutation SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_053006.4 +1 validated p.V204M 1.000 66 0% 65 40% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SEPT5 5413 genome.wustl.edu 37 22 19708324 19708324 + Missense_Mutation SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_002688.4 +1 reviewed p.V217I 0.963 8 0.000 7 0.857 0 - benign(0.005) tolerated(1) - HMMPfam_Septin,superfamily_SSF52540 GNB1L 54584 genome.wustl.edu 37 22 19789664 19789664 + Nonsense_Mutation SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_053004.2 -1 validated p.Q198* 0.869 5 0.000 11 0.455 6 0% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like LOC100133224 100133224 genome.wustl.edu 37 22 31552503 31552503 + Silent SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 XM_001716151.1 -1 model p.C188 0.988 53 0% 54 40.7% 0 - - - - HMMPfam_LSM,HMMSmart_SM00651,superfamily_Sm-like ribonucleoproteins SGSM3 27352 genome.wustl.edu 37 22 40803251 40803251 + Silent SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_015705.4 +1 validated p.T429 0.992 19 0% 20 25% 22 40.9% - - - NULL TUBGCP6 85378 genome.wustl.edu 37 22 50662687 50662687 + Splice_Site SNP T T C novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_020461.3 -1 reviewed e13-2 0.997 26 0% 31 29% 0 - - - - - MXRA5 25878 genome.wustl.edu 37 X 3228929 3228929 + Missense_Mutation SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_015419.3 -1 reviewed p.P2439S 0.028 42 0% 27 40.7% 2 0% benign(0.001) tolerated(0.27) neutral(0.034) NULL GPM6B 2824 genome.wustl.edu 37 X 13798043 13798043 + Silent SNP G G T novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 ENST00000472735 -1 known p.R53S 0.000 444 0% 260 38.8% 0 - - - - HMMPfam_Myelin_PLP SCML2 10389 genome.wustl.edu 37 X 18342125 18342125 + Missense_Mutation SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_006089.2 -1 validated p.T84M 0.998 222 0% 203 38.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MBT,HMMSmart_SM00561,superfamily_Tudor/PWWP/MBT GRIPAP1 56850 genome.wustl.edu 37 X 48855906 48855906 + Missense_Mutation SNP A A G novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_020137.3 -1 reviewed p.L18P 1.000 156 0% 117 40.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ZXDB 158586 genome.wustl.edu 37 X 57620268 57620268 + Missense_Mutation SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_007157.3 +1 validated p.S596N 0.999 133 0% 134 41.8% 0 - possibly_damaging(0.484) deleterious(0.01) deleterious(0.566) NULL HEPH 9843 genome.wustl.edu 37 X 65423396 65423396 + Nonsense_Mutation SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_138737.3 +1 reviewed p.W759* 0.999 196 0% 156 32.1% 3 0% - - - superfamily_Cupredoxins TAF1 6872 genome.wustl.edu 37 X 70607122 70607122 + Missense_Mutation SNP C C G novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_004606.3 +1 reviewed p.N766K 1.000 275 0% 234 32.5% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL CDX4 1046 genome.wustl.edu 37 X 72674213 72674213 + Splice_Site SNP A A G novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_005193.1 +1 provisional e3-2 1.000 73 0% 73 32.9% 0 - - - - - PCDH11X 27328 genome.wustl.edu 37 X 91133855 91133855 + Missense_Mutation SNP G G C novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_032968.3 +1 reviewed p.K872N 1.000 182 0% 190 42.6% 0 - probably_damaging(0.998) tolerated(0.14) deleterious(0.724) HMMPfam_Protocadherin ZIC3 7547 genome.wustl.edu 37 X 136651209 136651209 + Silent SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_003413.3 +1 reviewed p.L403 1.000 80 0% 82 35.4% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 LOC392555 392555 genome.wustl.edu 37 X 141261383 141261383 + Missense_Mutation SNP C C A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 XM_002343852.1 -1 model p.Q208H 0.000 134 0% 128 39.1% 0 - - - - HMMPfam_MAGE CD99L2 83692 genome.wustl.edu 37 X 149963706 149963706 + Missense_Mutation SNP G G A novel TCGA-AX-A064-01A-11W-A027-09 TCGA-AX-A064-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 269ec110-918e-4f4b-bb4f-3466acffb4f4 14163707-5628-4c1b-9efd-87f7dd11d300 NM_031462.3 -1 reviewed p.R135C 0.007 183 0% 188 35.6% 2 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL