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 WDTC1 23038 genome.wustl.edu 37 1 27632827 27632827 + Missense_Mutation SNP G G A novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_015023.3 +1 validated p.D662N 1.000 41 0% 67 46.3% 13 30.7% possibly_damaging(0.482) tolerated(0.05) deleterious(0.505) NULL FHL3 2275 genome.wustl.edu 37 1 38463541 38463541 + Missense_Mutation SNP G G A novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_004468.3 -1 validated p.T168M 1.000 68 0% 123 31.7% 58 34.4% probably_damaging(0.978) tolerated(0.06) deleterious(0.743) HMMPfam_LIM,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,superfamily_SSF57716 SLC6A9 6536 genome.wustl.edu 37 1 44476519 44476519 + Missense_Mutation SNP G G T novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_201649.2 -1 validated p.D95E 1.000 375 0% 104 67.3% 9 77.7% probably_damaging(0.998) tolerated(0.08) deleterious(0.774) NULL COL11A1 1301 genome.wustl.edu 37 1 103461439 103461439 + Missense_Mutation SNP T T A novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_080629.2 -1 reviewed p.K786M 1.000 278 0% 169 34.3% 0 - possibly_damaging(0.829) deleterious(0.03) deleterious(0.679) HMMPfam_Collagen REG4 83998 genome.wustl.edu 37 1 120341123 120341124 + Frame_Shift_Ins INS - - A novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_032044.3 -1 validated p.N135fs 0.000:0.000 - - - - - - - - - HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like,PatternScan_C_TYPE_LECTIN_1 ITGA10 8515 genome.wustl.edu 37 1 145527965 145527965 + Missense_Mutation SNP G G A novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_003637.3 +1 reviewed p.D68N 0.913 76 0% 33 24.2% 0 - benign(0) tolerated(1) - HMMSmart_SM00191,superfamily_Integrin alpha N-terminal domain INTS3 65123 genome.wustl.edu 37 1 153736664 153736664 + Missense_Mutation SNP G G A novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_023015.3 +1 validated p.R631Q 0.999 342 0% 487 50.5% 20 50% possibly_damaging(0.887) tolerated(0.61) neutral(0.351) NULL FCGR3B 2215 genome.wustl.edu 37 1 161599622 161599622 + Missense_Mutation SNP A A G novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_000570.3 -1 validated p.C89R 0.753 235 0% 169 38.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin TNN 63923 genome.wustl.edu 37 1 175046634 175046634 + Missense_Mutation SNP C C T novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_022093.1 +1 validated p.T27I 0.000 23 0% 92 30.4% 0 - possibly_damaging(0.513) tolerated(0.15) neutral(0.413) NULL IGFN1 91156 genome.wustl.edu 37 1 201190614 201190614 + Missense_Mutation SNP C C T novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 ENST00000451870 +1 known p.S857L 0.022 20 0% 37 21.6% 0 - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PLXNA2 5362 genome.wustl.edu 37 1 208390899 208390899 + Missense_Mutation SNP C C A novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_025179.3 -1 reviewed p.E123D 1.000 201 0% 194 29.4% 1 0% benign(0) tolerated(0.59) neutral(0.004) HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain KMO 8564 genome.wustl.edu 37 1 241731894 241731894 + Missense_Mutation SNP C C G novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_003679.3 +1 validated p.L302V 1.000 1306 0.2% 198 26.3% 0 - benign(0.008) tolerated(0.23) neutral(0.042) superfamily_FAD/NAD(P)-binding domain PLD5 200150 genome.wustl.edu 37 1 242451736 242451736 + Missense_Mutation SNP G G T novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_152666.1 -1 provisional p.N49K 1.000 715 0% 147 31.3% 0 - possibly_damaging(0.918) tolerated(0.65) neutral(0.371) superfamily_SSF56024 PXDN 7837 genome.wustl.edu 37 2 1657519 1657519 + Missense_Mutation SNP C C G novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_012293.1 -1 validated p.R662P 1.000 275 0% 47 44.7% 44 61.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL SLC5A6 8884 genome.wustl.edu 37 2 27426657 27426657 + Missense_Mutation SNP C C T novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_021095.2 -1 validated p.G362S 1.000 217 0% 97 42.3% 10 40% probably_damaging(0.987) deleterious(0.01) deleterious(0.842) HMMPfam_SSF AAK1 22848 genome.wustl.edu 37 2 69870164 69870166 + In_Frame_Del DEL CTT CTT - novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_014911.3 -1 reviewed p.K3in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL CNTNAP5 129684 genome.wustl.edu 37 2 125261953 125261953 + Missense_Mutation SNP G G A novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_130773.2 +1 reviewed p.G382S 0.995 274 0% 153 56.2% 0 - benign(0.201) deleterious(0.04) neutral(0.368) superfamily_ConA_like_lec_gl NEB 4703 genome.wustl.edu 37 2 152432728 152432728 + Nonsense_Mutation SNP G G T novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_004543.4 -1 reviewed p.Y3914* 1.000 83 0% 143 28% 0 - - - - HMMSmart_SM00227 DLEC1 9940 genome.wustl.edu 37 3 38138085 38138085 + Missense_Mutation SNP T T C novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_007337.2 +1 reviewed p.S733P 0.000 256 0% 119 30.3% 0 - benign(0) tolerated(0.28) neutral(0.032) NULL HYAL2 8692 genome.wustl.edu 37 3 50355749 50355749 + Silent SNP C C T novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_003773.4 -1 reviewed p.G411 0.005 9 0.000 36 0.222 418 20.5% - - - NULL ARHGAP31 57514 genome.wustl.edu 37 3 119120755 119120755 + Missense_Mutation SNP G G A novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_020754.2 +1 reviewed p.G386S 1.000 29 0% 66 30.3% 0 - probably_damaging(0.969) deleterious(0) deleterious(0.856) NULL DHX36 170506 genome.wustl.edu 37 3 153993987 153993987 + Silent SNP T T G novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_020865.2 -1 validated p.P1000 0.055 593 0% 147 29.9% 16 50% - - - NULL ATP13A3 79572 genome.wustl.edu 37 3 194168624 194168624 + Missense_Mutation SNP C C T novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_024524.3 -1 validated p.G422D 0.968 613 0.3% 857 19.8% 0 - possibly_damaging(0.815) tolerated(0.31) neutral(0.335) HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transmembrane domain M C3orf43 255798 genome.wustl.edu 37 3 196234998 196234998 + Silent SNP G G A novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_001077657.1 -1 validated p.D135 0.245 386 0.3% 318 46.9% 0 - - - - NULL OTOP1 133060 genome.wustl.edu 37 4 4228274 4228282 + In_Frame_Del DEL CCACAGCAG CCACAGCAG - rs140419016 byCluster;by1000genomes TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 CCACAGCAG CCACAGCAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_177998.1 -1 provisional p.LLW104in_frame_del 1.000:1.000:1.000:0.995:0.999:0.998:0.998:1.000:1.000 - - - - - - - - - NULL FBXW7 55294 genome.wustl.edu 37 4 153247289 153247289 + Missense_Mutation SNP G G A rs149680468 TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_033632.2 -1 reviewed p.R505C 1.000 509 0% 136 49.3% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 FAT1 2195 genome.wustl.edu 37 4 187557773 187557773 + Missense_Mutation SNP C C T novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_005245.3 -1 reviewed p.R1313K 1.000 333 0% 525 42.7% 0 - benign(0) tolerated(1) - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like TRIML1 339976 genome.wustl.edu 37 4 189060959 189060959 + Missense_Mutation SNP T T A novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_178556.3 +1 provisional p.S83T 0.001 32 0% 44 59.1% 0 - benign(0.063) tolerated(0.72) neutral(0.005) superfamily_SSF57850 AHRR 57491 genome.wustl.edu 37 5 354005 354005 + Missense_Mutation SNP C C T novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_020731.3 +1 reviewed p.R79W 0.997 79 0% 69 31.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HLH,HMMSmart_SM00353 LIFR 3977 genome.wustl.edu 37 5 38485965 38485965 + Missense_Mutation SNP C C T novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_001127671.1 -1 reviewed p.G818E 0.972 654 0% 203 44.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III G3BP1 10146 genome.wustl.edu 37 5 151179471 151179471 + Missense_Mutation SNP G G A novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_005754.2 +1 reviewed p.E289K 1.000 228 0% 105 49.5% 15 33.3% unknown(0) tolerated(0.27) - NULL DDR1 780 genome.wustl.edu 37 6 30860301 30860301 + Missense_Mutation SNP G G A novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_013994.2 +1 reviewed p.E361K 1.000 119 0% 172 30.8% 9 11.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SLC22A16 85413 genome.wustl.edu 37 6 110752438 110752438 + Missense_Mutation SNP C C T novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_033125.2 -1 provisional p.R486H 0.885 98 0% 158 23.4% 9 11.1% probably_damaging(0.958) tolerated(0.1) deleterious(0.688) HMMPfam_MFS_1,superfamily_MFS general substrate transporter BMP1 649 genome.wustl.edu 37 8 22056730 22056730 + Nonsense_Mutation SNP C C A novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 ENST00000313857 +1 known p.S768* 0.805 17 0% 35 80% 0 - - - - NULL ZCCHC6 79670 genome.wustl.edu 37 9 88958005 88958005 + Silent SNP G G T novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_024617.3 -1 validated p.I357 0.987 340 0% 118 36.4% 1 0% - - - superfamily_Nucleotidyltransferase DBC1 1620 genome.wustl.edu 37 9 121971060 121971060 + Missense_Mutation SNP C C T novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_014618.2 -1 validated p.R361H 1.000 559 0% 56 53.6% 9 33.3% possibly_damaging(0.852) tolerated(0.53) neutral(0.335) NULL PRPF18 8559 genome.wustl.edu 37 10 13652180 13652180 + Missense_Mutation SNP T T G novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_003675.3 +1 reviewed p.L169V 1.000 269 0% 163 41.7% 9 55.5% possibly_damaging(0.706) deleterious(0.02) deleterious(0.637) superfamily_Functional domain of the splicing factor Prp18 LRRC18 474354 genome.wustl.edu 37 10 50121577 50121577 + Silent SNP C C T novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_001006939.3 -1 validated p.A208 0.000 426 0% 219 44.3% 0 - - - - NULL INPP5F 22876 genome.wustl.edu 37 10 121587116 121587116 + Nonsense_Mutation SNP C C T novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_014937.2 +1 reviewed p.R1075* 1.000 290 0% 266 27.8% 1 0% - - - NULL DMBT1 1755 genome.wustl.edu 37 10 124348477 124348477 + Missense_Mutation SNP G G A novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_007329.2 +1 reviewed p.A601T 0.000 694 0% 376 34.3% 0 - benign(0) tolerated(0.57) neutral(0.006) superfamily_SRCR-like DUSP8 1850 genome.wustl.edu 37 11 1579147 1579147 + Missense_Mutation SNP T T C novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_004420.2 -1 reviewed p.D233G 1.000 32 0% 13 100% 23 100% probably_damaging(0.988) deleterious(0.01) deleterious(0.843) HMMPfam_DSPc,HMMSmart_DSPc,superfamily_SSF52799 MS4A3 932 genome.wustl.edu 37 11 59837098 59837098 + Missense_Mutation SNP A A C novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_006138.4 +1 reviewed p.I189L 0.000 530 0% 279 54.8% 0 - benign(0.147) deleterious(0) neutral(0.458) HMMPfam_CD20 HEPHL1 341208 genome.wustl.edu 37 11 93844085 93844085 + Missense_Mutation SNP G G A novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_001098672.1 +1 validated p.R1021Q 1.000 980 0% 75 92% 1 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Cupredoxin,HMMPfam_Cu-oxidase_2 GRIA4 2893 genome.wustl.edu 37 11 105795168 105795168 + Missense_Mutation SNP G G T novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_000829.3 +1 reviewed p.R507L 1.000 470 0.2% 278 63.3% 0 - possibly_damaging(0.889) deleterious(0) deleterious(0.794) HMMSmart_PBPe,superfamily_SSF53850 CHD4 1108 genome.wustl.edu 37 12 6697097 6697097 + Missense_Mutation SNP G G A novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_001273.2 -1 reviewed p.R1162W 1.000 292 0.3% 319 32% 30 36.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases CELA1 1990 genome.wustl.edu 37 12 51735139 51735139 + Missense_Mutation SNP C C T novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_001971.5 -1 reviewed p.A118T 1.000 141 0% 170 17.6% 0 - benign(0.051) deleterious(0.05) neutral(0.348) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys ATP5B 506 genome.wustl.edu 37 12 57038586 57038586 + Missense_Mutation SNP C C G novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_001686.3 -1 reviewed p.R155T 1.000 186 0% 283 60.8% 193 24.8% possibly_damaging(0.917) deleterious(0) deleterious(0.812) superfamily_P-loop containing nucleoside triphosphate hydrolases SLITRK5 26050 genome.wustl.edu 37 13 88329538 88329538 + Missense_Mutation SNP C C T novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_015567.1 +1 validated p.A632V 0.002 88 0% 70 45.7% 0 - benign(0) tolerated(0.21) neutral(0.044) NULL WDHD1 11169 genome.wustl.edu 37 14 55474051 55474051 + Missense_Mutation SNP C C T novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_007086.2 -1 reviewed p.V183M 1.000 380 0.3% 66 87.9% 0 - probably_damaging(1) tolerated(0.06) deleterious(0.823) superfamily_WD40_like TDRD9 122402 genome.wustl.edu 37 14 104464994 104464994 + Missense_Mutation SNP G G C novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_153046.2 +1 validated p.C471S 1.000 1537 0.1% 588 21.9% 0 - possibly_damaging(0.862) tolerated(0.47) neutral(0.344) HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases UNC13C 440279 genome.wustl.edu 37 15 54306540 54306540 + Silent SNP C C G novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_001080534.1 +1 provisional p.S480 0.961 80 0% 186 38.2% 0 - - - - NULL SEMA7A 8482 genome.wustl.edu 37 15 74711251 74711251 + Missense_Mutation SNP G G T novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_003612.3 -1 reviewed p.P74Q 0.871 27 0% 25 52% 4 75% benign(0.138) tolerated(0.12) neutral(0.272) superfamily_Sema EIF4A1 1973 genome.wustl.edu 37 17 7480414 7480414 + Silent SNP C C T novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_001416.2 +1 validated p.D185 0.999 537 0% 216 29.2% 737 24.5% - - - PatternScan_DEAD_ATP_HELICASE,HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases TP53 7157 genome.wustl.edu 37 17 7577539 7577539 + Missense_Mutation SNP G G A rs121912651 byCluster TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_000546.4 -1 reviewed p.R248W 1.000 368 0% 77 92.2% 107 98.1% probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53 DNAH9 1770 genome.wustl.edu 37 17 11603060 11603060 + Missense_Mutation SNP C C G novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_001372.3 +1 reviewed p.L1629V 1.000 297 0% 126 61.1% 1 100% benign(0.207) deleterious(0) neutral(0.465) HMMPfam_DHC_N2 RAB11FIP4 84440 genome.wustl.edu 37 17 29848990 29848990 + Silent SNP T T G novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_032932.3 +1 validated p.V272 0.842 86 0% 17 82.4% 1 100% - - - NULL ITGA2B 3674 genome.wustl.edu 37 17 42453709 42453709 + Missense_Mutation SNP G G T novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_000419.3 -1 reviewed p.P772Q 0.961 98 0% 59 37.3% 0 - benign(0.088) tolerated(0.58) neutral(0.011) HMMPfam_Integrin_alpha2,superfamily_Integrin domains NXPH3 11248 genome.wustl.edu 37 17 47656213 47656213 + Missense_Mutation SNP G G A novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_007225.2 +1 validated p.D104N 1.000 30 0% 19 47.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Neurexophilin C3 718 genome.wustl.edu 37 19 6697668 6697668 + Missense_Mutation SNP G G A novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_000064.2 -1 reviewed p.L860F 0.314 88 0% 173 16.2% 171 19.2% probably_damaging(0.985) tolerated(0.08) deleterious(0.732) HMMPfam_A2M MUC16 94025 genome.wustl.edu 37 19 9065593 9065593 + Missense_Mutation SNP A A T novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_024690.2 -1 validated p.S7285T 0.000 510 0% 697 16.5% 3 0% unknown(0) - - NULL P2RY11 5032 genome.wustl.edu 37 19 10225031 10225031 + Missense_Mutation SNP G G A novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_002566.4 +1 reviewed p.A248T 0.003 14 0% 81 22.2% 16 12.5% benign(0.06) tolerated(0.68) neutral(0.006) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like QTRT1 81890 genome.wustl.edu 37 19 10823805 10823829 + Frame_Shift_Del DEL GAGCGCCGTCCGCACCAGCATCGTG GAGCGCCGTCCGCACCAGCATCGTG - novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 GAGCGCCGTCCGCACCAGCATCGTG GAGCGCCGTCCGCACCAGCATCGTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_031209.2 +1 validated p.S358fs 1.000:0.998:0.988:0.721:0.837:0.833:0.012:0.022:0.490:0.501:0.675:0.701:0.081:0.091:0.925:0.996:1.000:1.000:1.000:1.000:0.997:0.626:0.632:0.990:0.992 - - - - - - - - - HMMPfam_TGT,superfamily_tRNA_ribo_trans SLC1A6 6511 genome.wustl.edu 37 19 15079219 15079219 + Silent SNP G G A novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_005071.1 -1 provisional p.L148 0.966 205 0% 72 26.4% 2 50% - - - HMMPfam_SDF ZNF493 284443 genome.wustl.edu 37 19 21607651 21607651 + Missense_Mutation SNP A A T novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_001076678.2 +1 validated p.K730N 0.136 126 0% 141 30.5% 0 - benign(0.12) tolerated(0.36) neutral(0.029) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF780B 163131 genome.wustl.edu 37 19 40541297 40541297 + Missense_Mutation SNP C C T novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_001005851.2 -1 validated p.R490Q 0.000 380 1.6% 290 42.1% 0 - benign(0.318) tolerated(0.62) neutral(0.104) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SPTBN4 57731 genome.wustl.edu 37 19 40978640 40978640 + Missense_Mutation SNP G G A rs73931308 byCluster;byFrequency;by1000genomes TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_020971.2 +1 reviewed p.A38T 0.328 5 0.000 5 1.000 0 - benign(0.22) tolerated(0.38) neutral(0.039) NULL PSG9 5678 genome.wustl.edu 37 19 43762418 43762454 + Frame_Shift_Del DEL AGCATAGAGCCCGCTATGATTTCTAGTAATTTGGGGG AGCATAGAGCCCGCTATGATTTCTAGTAATTTGGGGG - novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 AGCATAGAGCCCGCTATGATTTCTAGTAATTTGGGGG AGCATAGAGCCCGCTATGATTTCTAGTAATTTGGGGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_002784.3 -1 validated p.P382fs 0.001:0.000:0.000:0.002:0.003:0.004:0.003:0.001:0.001:0.002:0.003:0.001:0.000:0.001:0.002:0.002:0.002:0.000:0.000:0.001:0.000:0.000:0.000:0.001:0.003:0.002:0.001:0.001:0.001:0.001:0.000:0.001:0.002:0.003:0.005:0.004:0.005 - - - - - - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin ENSG00000248985 0 genome.wustl.edu 37 19 46970589 46970590 + RNA INS - - ACACAC novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 ENST00000503237 +1 novel NULL 0.003:0.005 - - - - - - - - - - POLD1 5424 genome.wustl.edu 37 19 50912397 50912397 + Missense_Mutation SNP C C A novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_002691.2 +1 validated p.F637L 1.000 46 0% 22 45.5% 11 27.2% benign(0) tolerated(0.13) neutral(0.253) HMMPfam_DNA_pol_B,HMMSmart_POLBc,superfamily_SSF56672 ITGB2 3689 genome.wustl.edu 37 21 46320360 46320362 + In_Frame_Del DEL GCC GCC - novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 GCC GCC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_000211.3 -1 reviewed p.R257in_frame_del 1.000:0.983:0.993 - - - - - - - - - HMMSmart_VWA,HMMPfam_Integrin_beta,HMMSmart_INB,superfamily_SSF53300 HMGXB4 10042 genome.wustl.edu 37 22 35659143 35659143 + Missense_Mutation SNP G G A novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_001003681.2 +1 validated p.R35H 1.000 140 0.7% 61 50.8% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ENSG00000198888 0 genome.wustl.edu 37 MT 3538 3538 + Missense_Mutation SNP G G A novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 ENST00000361390 +1 known p.A78T NULL 13 0% 108 96.3% 5601 95.6% possibly_damaging(0.908) deleterious(0) deleterious(0.806) HMMPfam_NADHdh PHF16 9767 genome.wustl.edu 37 X 46917818 46917818 + Missense_Mutation SNP G G A novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_001077445.1 +1 reviewed p.R604H 0.823 188 0.5% 171 40.9% 2 0% probably_damaging(0.954) tolerated(0.07) deleterious(0.717) NULL TRO 7216 genome.wustl.edu 37 X 54949318 54949318 + Missense_Mutation SNP C C A novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_001039705.1 +1 reviewed p.A118D 0.220 188 0% 150 28% 5 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL SPIN2B 474343 genome.wustl.edu 37 X 57146314 57146314 + Missense_Mutation SNP T T C novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_001006681.1 -1 validated p.Y250C 1.000 896 0% 361 24.4% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Spin-Ssty CXorf65 158830 genome.wustl.edu 37 X 70323922 70323922 + Missense_Mutation SNP C C G novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_001025265.2 -1 validated p.R156P 0.004 885 0% 212 21.2% 0 - probably_damaging(0.986) deleterious(0.02) deleterious(0.818) NULL DACH2 117154 genome.wustl.edu 37 X 85994747 85994747 + Splice_Site SNP C C G novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 ENST00000506327 +1 known e3-1 0.012 667 0.1% 23 34.8% 0 - - - - - GLA 2717 genome.wustl.edu 37 X 100658883 100658883 + Nonsense_Mutation SNP C C T novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_000169.2 -1 reviewed p.W95* 1.000 445 0% 365 24.7% 8 0% - - - HMMPfam_Melibiase,PatternScan_ALPHA_GALACTOSIDASE,superfamily_(Trans)glycosidases ALG13 79868 genome.wustl.edu 37 X 110951323 110951323 + Missense_Mutation SNP C C T novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 ENST00000394780 +1 known p.A151V 0.001 326 0% 124 36.3% 0 - possibly_damaging(0.763) tolerated(0.16) neutral(0.342) NULL FLNA 2316 genome.wustl.edu 37 X 153577902 153577902 + Missense_Mutation SNP G G C novel TCGA-AP-A05H-01A-11W-A027-09 TCGA-AP-A05H-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 674ac901-4ee0-43d9-ba62-2ace69cf0c62 70a2d11e-a612-4100-8c4e-2dca17059d15 NM_001110556.1 -1 reviewed p.H2528Q 0.867 27 0% 27 33.3% 1622 29% benign(0.258) tolerated(1) neutral(0.027) NULL