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 RPL22 6146 ucsc.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T - - novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_000983.3 -1 reviewed p.K15fs 1 - - - - - - - - - HMMPfam_Ribosomal_L22e ENO1 2023 genome.wustl.edu 37 1 8927218 8927218 + Silent SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001428.2 -1 reviewed p.I134 0.123 59 0% 77 66.2% 1071 78.7% - - - HMMPfam_Enolase_N,superfamily_Enolase N-terminal domain-like VPS13D 55187 genome.wustl.edu 37 1 12336999 12336999 + Silent SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_015378.2 +1 reviewed p.T1118 0.993 114 0% 137 70.1% 2 0% - - - NULL SPEN 23013 genome.wustl.edu 37 1 16255142 16255143 + Frame_Shift_Del DEL GA GA - novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_015001.2 +1 reviewed p.R806fs 0.999:1.000 - - - - - - - - - NULL C1orf50 79078 genome.wustl.edu 37 1 43240883 43240883 + Missense_Mutation SNP T T C novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_024097.2 +1 predicted p.W140R 1.000 62 0% 95 32.6% 25 36% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF2452 FAF1 11124 genome.wustl.edu 37 1 51121137 51121137 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_007051.2 -1 reviewed p.P241S 1.000 291 0% 421 38% 20 30% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Ubiquitin-like PRPF38A 84950 genome.wustl.edu 37 1 52879631 52879631 + Silent SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_032864.3 +1 validated p.R230 1.000 96 0% 107 41.1% 64 43.7% - - - NULL ANGPTL3 27329 genome.wustl.edu 37 1 63069702 63069702 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_014495.2 +1 reviewed p.R332* 1.000 280 0.7% 268 41.8% 0 - - - - HMMPfam_Fibrinogen_C,HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like DOCK7 85440 genome.wustl.edu 37 1 63084454 63084454 + Silent SNP A A G novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_033407.2 -1 validated p.P535 0.966 247 0% 344 31.4% 5 0% - - - NULL LRRC8C 84230 genome.wustl.edu 37 1 90179730 90179730 + Missense_Mutation SNP C C T rs150400983 TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_032270.4 +1 validated p.T534I 1.000 174 0% 192 41.7% 22 22.7% benign(0.051) tolerated(0.39) neutral(0.019) superfamily_L domain-like NTNG1 22854 genome.wustl.edu 37 1 107867388 107867388 + Missense_Mutation SNP A A G novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001113226.1 +1 validated p.Y244C 1.000 111 0% 166 28.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Laminin_N,HMMSmart_SM00136 CSDE1 7812 genome.wustl.edu 37 1 115262222 115262222 + Missense_Mutation SNP C C G novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001130523.1 -1 validated p.A747P 1.000 147 0% 179 38% 347 31.7% possibly_damaging(0.906) deleterious(0) deleterious(0.804) HMMPfam_CSD,HMMSmart_SM00357,superfamily_Nucleic acid-binding proteins RPRD2 23248 genome.wustl.edu 37 1 150445500 150445500 + Missense_Mutation SNP G G T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_015203.3 +1 validated p.G1359V 1.000 42 0% 28 53.6% 27 33.3% probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL ADAMTSL4 54507 genome.wustl.edu 37 1 150525534 150525534 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_019032.4 +1 reviewed p.P80L 0.000 26 0% 19 26.3% 0 - benign(0.004) tolerated(0.14) neutral(0.249) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat TCHH 7062 genome.wustl.edu 37 1 152084028 152084030 + In_Frame_Del DEL CTC CTC - novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_007113.2 -1 provisional p.E555in_frame_del 0.004:0.005:0.002 - - - - - - - - - NULL HRNR 388697 genome.wustl.edu 37 1 152191918 152191918 + Silent SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001009931.1 -1 validated p.H729 0.000 400 0% 519 33.9% 0 - - - - NULL IL6R 3570 genome.wustl.edu 37 1 154427026 154427026 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_000565.2 +1 reviewed p.G377* 0.227 263 0% 328 39.9% 0 - - - - NULL NES 10763 genome.wustl.edu 37 1 156639576 156639576 + Silent SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_006617.1 -1 reviewed p.P1468 0.313 77 0% 74 33.8% 43 16.2% - - - NULL PYHIN1 149628 genome.wustl.edu 37 1 158943452 158943452 + Missense_Mutation SNP C C A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_152501.3 +1 validated p.P459T 0.000 346 0% 447 37.1% 1 0% possibly_damaging(0.949) - - NULL TSEN15 116461 genome.wustl.edu 37 1 184023536 184023536 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_052965.2 +1 validated p.V62I 1.000 676 0% 857 34.8% 26 34.6% benign(0) tolerated(0.94) - HMMPfam_Sen15 SLC26A9 115019 genome.wustl.edu 37 1 205897122 205897122 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_134325.2 -1 reviewed p.A337T 1.000 57 0% 52 30.8% 0 - benign(0.38) deleterious(0.04) deleterious(0.470) HMMPfam_Sulfate_transp PPP2R5A 5525 genome.wustl.edu 37 1 212506857 212506857 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_006243.2 +1 reviewed p.R133C 1.000 309 0.3% 354 35.6% 25 52% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_B56,superfamily_ARM repeat COLEC11 78989 genome.wustl.edu 37 2 3652002 3652002 + Silent SNP T T C novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_024027.3 +1 validated p.H24 0.005 173 0% 190 34.2% 1 0% - - - NULL DNMT3A 1788 genome.wustl.edu 37 2 25497907 25497907 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_022552.3 -1 reviewed p.R181H 1.000 25 0% 15 46.7% 4 25% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL PLB1 151056 genome.wustl.edu 37 2 28761170 28761170 + Silent SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 ENST00000404858 +1 known p.R190Q 0.003 106 0% 126 42.1% 1 0% - - - NULL CD207 50489 genome.wustl.edu 37 2 71061046 71061046 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_015717.2 -1 validated p.S99N 0.001 217 0% 234 36.3% 2 50% benign(0.026) tolerated(0.47) neutral(0.012) NULL RAB11FIP5 26056 genome.wustl.edu 37 2 73315308 73315308 + Silent SNP G G T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_015470.2 -1 validated p.R480 0.721 53 0% 37 13.5% 5 20% - - - NULL ALMS1 7840 genome.wustl.edu 37 2 73786106 73786108 + In_Frame_Del DEL TGC TGC - novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 TGC TGC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_015120.4 +1 reviewed p.A3410in_frame_del 0.018:0.019:0.000 - - - - - - - - - NULL CTNNA2 1496 genome.wustl.edu 37 2 80085247 80085247 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_004389.3 +1 validated p.R136H 1.000 78 1.3% 91 45.1% 1 100% benign(0.399) deleterious(0.04) deleterious(0.477) HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin TMEM182 130827 genome.wustl.edu 37 2 103379055 103379055 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_144632.3 +1 validated p.V48I 0.841 409 0% 549 43.5% 1 0% benign(0) tolerated(0.54) neutral(0.007) NULL POTEF 728378 genome.wustl.edu 37 2 130832651 130832651 + Silent SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001099771.2 -1 validated p.P798 1.000 146 0% 132 36.4% 0 - - - - HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067 SMPD4 55627 genome.wustl.edu 37 2 130910316 130910316 + Missense_Mutation SNP C C A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_017951.3 -1 validated p.G805C 0.457 13 0% 17 47.1% 36 33.3% probably_damaging(0.992) deleterious(0.05) deleterious(0.793) NULL RAB3GAP1 22930 genome.wustl.edu 37 2 135891570 135891570 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_012233.2 +1 reviewed p.R489H 1.000 283 0% 356 41.9% 23 34.7% probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL NR4A2 4929 genome.wustl.edu 37 2 157184490 157184490 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_006186.3 -1 reviewed p.R344H 1.000 107 0% 93 43% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Nuclear receptor ligand-binding domain,superfamily_Glucocorticoid receptor-like (DNA-binding domain) LRP2 4036 genome.wustl.edu 37 2 170022471 170022471 + Missense_Mutation SNP C C A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_004525.2 -1 reviewed p.G3910V 1.000 407 0% 601 38.6% 0 - - - - HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_LDL_rcpt_classA_cys-rich PDK1 5163 genome.wustl.edu 37 2 173460687 173460687 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_002610.3 +1 reviewed p.R434H 1.000 114 0.9% 138 40.6% 20 55% probably_damaging(0.987) deleterious(0.01) deleterious(0.842) NULL ENSG00000206965 0 genome.wustl.edu 37 2 175422722 175422722 + RNA SNP G G A rs138598191 by1000genomes TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 ENST00000384238 -1 known NULL 0.025 14 7.1% 198 23.7% 4 0% - - - - WIPF1 7456 genome.wustl.edu 37 2 175439949 175439949 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001077269.1 -1 reviewed p.T114M 1.000 147 0% 118 34.7% 26 3.8% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL CHN1 1123 genome.wustl.edu 37 2 175742670 175742670 + Silent SNP T T A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001822.4 -1 reviewed p.T149 0.998 470 0% 567 34% 9 33.3% - - - NULL TTN 7273 genome.wustl.edu 37 2 179416711 179416711 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 ENST00000356127 -1 known p.G27736R 1.000 275 0.4% 396 39.9% 0 - probably_damaging(1) - - HMMPfam_fn3,HMMSmart_SM00060 SSFA2 6744 genome.wustl.edu 37 2 182784165 182784165 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001130445.1 +1 validated p.A1046T 0.003 84 1.2% 102 31.4% 75 37.3% benign(0.003) deleterious(0) neutral(0.445) NULL SLC40A1 30061 genome.wustl.edu 37 2 190440013 190440014 + Frame_Shift_Del DEL AC AC - novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 AC AC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_014585.5 -1 reviewed p.F49fs 1.000:0.942 - - - - - - - - - superfamily_MFS general substrate transporter HIBCH 26275 genome.wustl.edu 37 2 191155190 191155190 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 ENST00000392333 -1 known p.Q8* 0.000 331 0% 305 34.1% 14 21.4% benign(0) tolerated(0.22) neutral(0.042) NULL SF3B1 23451 genome.wustl.edu 37 2 198283299 198283299 + Silent SNP A A G novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_012433.2 -1 reviewed p.P143 0.996 345 0% 434 37.1% 64 28.1% - - - NULL SGOL2 151246 genome.wustl.edu 37 2 201448171 201448171 + Splice_Site SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_152524.5 +1 validated e8-1 0.996 467 0% 673 34.3% 3 66.6% - - - - NOP58 51602 genome.wustl.edu 37 2 203167693 203167695 + In_Frame_Del DEL GAA GAA - novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_015934.3 +1 provisional p.K488in_frame_del 0.067:0.894:0.995 - - - - - - - - - NULL MDH1B 130752 genome.wustl.edu 37 2 207615787 207615787 + Missense_Mutation SNP A A G novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001039845.1 -1 validated p.V308A 1.000 337 0% 398 32.9% 5 60% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) superfamily_LDH C-terminal domain-like TMBIM1 64114 genome.wustl.edu 37 2 219141744 219141744 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_022152.4 -1 validated p.V240M 1.000 115 0% 173 12.7% 86 4.6% benign(0.212) deleterious(0.02) neutral(0.404) HMMPfam_UPF0005 GIGYF2 26058 genome.wustl.edu 37 2 233676027 233676029 + In_Frame_Del DEL CTT CTT - novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001103147.1 +1 reviewed p.L681in_frame_del 0.774:0.953:0.944 - - - - - - - - - NULL INPP5D 3635 genome.wustl.edu 37 2 234079193 234079193 + Missense_Mutation SNP C C A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 ENST00000359570 +1 known p.L615M 1.000 131 0% 158 34.2% 7 0% possibly_damaging(0.929) tolerated(0.12) deleterious(0.637) HMMSmart_SM00128,HMMPfam_Exo_endo_phos,superfamily_DNase I-like LMCD1 29995 genome.wustl.edu 37 3 8609223 8609223 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_014583.2 +1 reviewed p.A346V 0.973 127 0.8% 108 30.6% 42 7.1% possibly_damaging(0.81) tolerated(1) neutral(0.305) HMMPfam_LIM,HMMSmart_LIM CPNE9 151835 genome.wustl.edu 37 3 9746605 9746605 + Silent SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_153635.2 +1 validated p.L63 0.998 96 0% 77 53.2% 0 - - - - HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB HRH1 3269 genome.wustl.edu 37 3 11301510 11301510 + Missense_Mutation SNP A A G novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_000861.3 +1 reviewed p.K263E 0.002 155 0% 186 28% 14 21.4% benign(0.282) tolerated(0.83) neutral(0.087) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like GRIP2 80852 genome.wustl.edu 37 3 14562036 14562036 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001080423.1 -1 provisional p.A338T 0.999 107 0% 103 35.9% 1 0% - - - NULL TOP2B 7155 genome.wustl.edu 37 3 25668301 25668301 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001068.2 -1 reviewed p.E686K 1.000 368 0% 382 35.6% 41 39% possibly_damaging(0.804) tolerated(0.22) neutral(0.344) HMMSmart_TOP2c,superfamily_Topo_IIA_cen TGFBR2 7048 genome.wustl.edu 37 3 30729913 30729913 + Silent SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001024847.2 +1 reviewed p.V503 1.000 190 0% 197 44.2% 44 15.9% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase FBXL2 25827 genome.wustl.edu 37 3 33416852 33416852 + Missense_Mutation SNP T T C novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_012157.3 +1 reviewed p.C244R 1.000 189 0% 190 43.2% 6 16.6% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF52047 CLASP2 23122 genome.wustl.edu 37 3 33663732 33663732 + Missense_Mutation SNP T T A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_015097.1 -1 validated p.Q359L 1.000 143 0% 195 40.5% 4 0% benign(0.02) deleterious(0.04) neutral(0.350) superfamily_ARM repeat CTNNB1 1499 genome.wustl.edu 37 3 41266125 41266125 + Missense_Mutation SNP C C T rs121913413 byCluster TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001098209.1 +1 reviewed p.T41I 1.000 107 0% 158 39.9% 182 21.9% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL NBEAL2 23218 genome.wustl.edu 37 3 47041733 47041733 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_015175.1 +1 validated p.P1382S 0.999 68 0% 71 26.8% 11 36.3% possibly_damaging(0.919) deleterious(0.02) deleterious(0.752) NULL RHOA 387 genome.wustl.edu 37 3 49397700 49397700 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001664.2 -1 validated p.T175M 1.000 687 0% 799 40.9% 629 25.2% probably_damaging(0.985) deleterious(0.01) deleterious(0.838) HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases HEMK1 51409 genome.wustl.edu 37 3 50609158 50609158 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 ENST00000424388 +1 known p.G70S 0.038 142 0% 148 36.5% 18 16.6% unknown(0) - - NULL WDR52 55779 genome.wustl.edu 37 3 113023926 113023926 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 ENST00000393845 -1 known p.R759Q 0.936 136 0% 144 37.5% 6 16.6% probably_damaging(0.997) tolerated(0.05) deleterious(0.811) NULL ILDR1 286676 genome.wustl.edu 37 3 121725956 121725956 + Silent SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_175924.2 -1 provisional p.L37 0.998 202 0% 273 19% 2 50% - - - HMMSmart_IG,superfamily_SSF48726 PARP15 165631 genome.wustl.edu 37 3 122336009 122336009 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001113523.1 +1 validated p.S333L 0.969 267 0% 311 33.1% 0 - benign(0.018) tolerated(0.1) neutral(0.287) HMMPfam_Macro,HMMSmart_SM00506,superfamily_Macro domain-like MYLK 4638 genome.wustl.edu 37 3 123411622 123411622 + Silent SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_053025.3 -1 reviewed p.D1175 0.000 48 0% 72 43.1% 32 0% - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin KALRN 8997 genome.wustl.edu 37 3 124209622 124209622 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001024660.3 +1 reviewed p.R1491Q 1.000 180 0% 195 40.5% 3 66.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like ATP2C1 27032 genome.wustl.edu 37 3 130698114 130698114 + Missense_Mutation SNP C C A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001001486.1 +1 reviewed p.P531H 1.000 195 0% 238 41.2% 62 41.9% benign(0.004) deleterious(0.03) neutral(0.364) HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_Calcium ATPase transmembrane domain M ANKUB1 389161 genome.wustl.edu 37 3 149498108 149498108 + Silent SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001144960.1 -1 predicted p.P123 0.068 326 0% 369 43.9% 0 - - - - NULL SLC7A14 57709 genome.wustl.edu 37 3 170204093 170204093 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_020949.2 -1 validated p.G275E 1.000 359 0% 481 43.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AA_permease ZMAT3 64393 genome.wustl.edu 37 3 178785418 178785418 + Silent SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_022470.3 -1 reviewed p.Q41 0.999 315 0% 331 38.1% 10 10% - - - NULL MCF2L2 23101 genome.wustl.edu 37 3 182897276 182897276 + Silent SNP G G T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_015078.2 -1 validated p.T1079 0.000 149 0% 104 38.5% 0 - - - - NULL RTP1 132112 genome.wustl.edu 37 3 186917639 186917639 + Silent SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_153708.2 +1 validated p.C191 1.000 38 0% 20 40% 0 - - - - NULL CCDC149 91050 genome.wustl.edu 37 4 24810258 24810258 + Missense_Mutation SNP C C A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001130726.1 -1 validated p.R448M 0.995 272 0% 309 33% 5 40% benign(0.075) tolerated(0.08) neutral(0.305) NULL PDS5A 23244 genome.wustl.edu 37 4 39929628 39929628 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001100399.1 -1 reviewed p.R99C 1.000 228 0% 276 35.1% 11 27.2% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat ALB 213 genome.wustl.edu 37 4 74279232 74279232 + Silent SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 ENST00000511370 +1 known p.H158Y 0.476 265 0% 339 38.3% 0 - - - - superfamily_Serum albumin-like,HMMPfam_Serum_albumin,HMMSmart_SM00103 BMP2K 55589 genome.wustl.edu 37 4 79792103 79792103 + Silent SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 ENST00000502613 +1 known p.A159T 0.452 35 0% 27 22.2% 1 0% - - - NULL BBS12 166379 genome.wustl.edu 37 4 123663115 123663115 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_152618.2 +1 reviewed p.A23V 0.980 260 0.4% 347 36.3% 1 0% probably_damaging(0.966) deleterious(0) deleterious(0.853) HMMPfam_Cpn60_TCP1,superfamily_GroEL equatorial domain-like FAT4 79633 genome.wustl.edu 37 4 126238898 126238898 + Silent SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_024582.4 +1 validated p.Y444 0.937 73 1.4% 68 33.8% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PHF17 79960 genome.wustl.edu 37 4 129793186 129793186 + Silent SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_199320.2 +1 validated p.H766 0.000 54 0% 53 41.5% 3 66.6% - - - NULL OTUD4 54726 genome.wustl.edu 37 4 146059132 146059132 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001102653.1 -1 reviewed p.P867L 0.052 151 0% 205 34.1% 11 18.1% benign(0.007) deleterious(0.02) neutral(0.383) NULL PALLD 23022 genome.wustl.edu 37 4 169589408 169589408 + Missense_Mutation SNP C C A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_016081.3 +1 reviewed p.L326I 1.000 170 0% 242 37.2% 25 36% probably_damaging(0.971) deleterious(0.05) deleterious(0.758) HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 TPPP 11076 genome.wustl.edu 37 5 666193 666193 + Silent SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_007030.2 -1 validated p.A119 0.465 70 0% 61 27.9% 1 0% - - - HMMPfam_p25-alpha C1QTNF3 114899 genome.wustl.edu 37 5 34033468 34033468 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_181435.4 -1 validated p.R171W 0.996 293 0% 268 30.6% 6 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Collagen NIPBL 25836 genome.wustl.edu 37 5 37064713 37064713 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_133433.3 +1 reviewed p.A2712T 1.000 150 0% 206 37.4% 31 25.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL C5orf28 64417 genome.wustl.edu 37 5 43446552 43446552 + Silent SNP T T C novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_022483.4 -1 validated p.S140 0.497 142 0% 165 35.8% 12 25% - - - NULL JMY 133746 genome.wustl.edu 37 5 78610592 78610592 + Silent SNP A A G novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_152405.4 +1 validated p.S859 0.953 23 0% 23 34.8% 2 50% - - - NULL EDIL3 10085 genome.wustl.edu 37 5 83360600 83360600 + Missense_Mutation SNP C C A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_005711.3 -1 reviewed p.A291S 1.000 334 0% 432 32.4% 15 0% benign(0.016) tolerated(0.06) neutral(0.323) HMMPfam_F5_F8_type_C,HMMSmart_SM00231,superfamily_Galactose-binding domain-like PAM 5066 genome.wustl.edu 37 5 102285660 102285660 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_000919.3 +1 reviewed p.R260Q 0.996 64 0% 85 31.8% 117 15.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_PHM_PNGase_F,HMMPfam_Cu2_monoox_C TMEM173 340061 genome.wustl.edu 37 5 138860415 138860415 + Silent SNP T T C novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_198282.2 -1 validated p.A160 0.798 80 0% 89 40.4% 68 1.4% - - - NULL ANKHD1 54882 genome.wustl.edu 37 5 139916951 139916951 + Silent SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 ENST00000253810 +1 known p.S2352 1.000 81 0% 87 36.8% 16 0% - - - NULL PCDHB17 54661 genome.wustl.edu 37 5 140536909 140536909 + RNA SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NR_001280.1 +1 provisional NULL 1.000 111 0% 124 42.7% 0 - possibly_damaging(0.439) tolerated(0.57) neutral(0.149) - PCDHGB3 56102 genome.wustl.edu 37 5 140750431 140750431 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_018924.2 +1 reviewed p.A157V 0.404 192 0% 212 34.9% 1 0% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like ARSI 340075 genome.wustl.edu 37 5 149677542 149677542 + Missense_Mutation SNP C C A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001012301.2 -1 validated p.K315N 0.995 15 0.000 9 0.556 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sulfatase,superfamily_Alkaline phosphatase-like ADRA1B 147 genome.wustl.edu 37 5 159398962 159398962 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_000679.3 +1 reviewed p.C342* 1.000 21 0% 21 38.1% 1 0% - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PTTG1 9232 genome.wustl.edu 37 5 159854736 159854736 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_004219.2 +1 reviewed p.D129N 1.000 138 0% 123 35.8% 78 32% benign(0.008) tolerated(0.06) neutral(0.323) HMMPfam_Securin GABRB2 2561 genome.wustl.edu 37 5 160721171 160721171 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_021911.2 -1 reviewed p.A486T 1.000 330 0% 399 35.1% 0 - benign(0.153) tolerated(0.45) neutral(0.026) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM RUFY1 80230 genome.wustl.edu 37 5 179036469 179036469 + Silent SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_025158.3 +1 validated p.C692 0.864 22 0% 21 38.1% 37 27% - - - HMMPfam_FYVE,HMMSmart_SM00064,superfamily_FYVE/PHD zinc finger E2F3 1871 genome.wustl.edu 37 6 20402602 20402613 + Splice_Site DEL GCCGCCGCCGCT GCCGCCGCCGCT - novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 GCCGCCGCCGCT GCCGCCGCCGCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 ENST00000378646 +1 known e1-1 1.000:1.000:1.000:1.000:0.980:0.975:0.976:0.977:0.974:0.982:0.971:0.969 - - - - - - - - - - HIST1H2BD 3017 genome.wustl.edu 37 6 26158679 26158679 + Missense_Mutation SNP G G T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_021063.2 +1 reviewed p.E94D 1.000 164 0% 136 33.1% 20 15% benign(0.011) deleterious(0.02) neutral(0.384) HMMSmart_SM00427,PatternScan_HISTONE_H2B,HMMPfam_Histone,superfamily_Histone-fold BAG6 7917 genome.wustl.edu 37 6 31612093 31612093 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 ENST00000404765 -1 known p.A516T 1.000 17 0% 12 33.3% 50 28% probably_damaging(0.98) deleterious(0.01) deleterious(0.830) NULL ITPR3 3710 genome.wustl.edu 37 6 33630402 33630402 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_002224.2 +1 validated p.R270H 1.000 42 0% 48 39.6% 6 66.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_MIR,superfamily_MIR,HMMSmart_MIR PPARD 5467 genome.wustl.edu 37 6 35392334 35392334 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_006238.4 +1 reviewed p.V286M 1.000 96 0% 90 16.7% 14 14.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain C6orf132 647024 genome.wustl.edu 37 6 42074505 42074505 + Missense_Mutation SNP T T G novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 ENST00000341865 -1 known p.Q382P 0.002 36 0% 41 51.2% 1 0% possibly_damaging(0.85) deleterious(0.03) deleterious(0.692) NULL SRF 6722 genome.wustl.edu 37 6 43144316 43144316 + Missense_Mutation SNP A A G novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_003131.2 +1 reviewed p.Q358R 1.000 62 0% 72 33.3% 30 6.6% benign(0.035) tolerated(0.35) neutral(0.022) NULL CUL9 23113 genome.wustl.edu 37 6 43152526 43152526 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_015089.2 +1 validated p.G160S 0.944 47 0% 43 39.5% 6 50% unknown(0) deleterious(0) - superfamily_ARM repeat CUL9 23113 genome.wustl.edu 37 6 43164464 43164464 + Frame_Shift_Del DEL A A - novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_015089.2 +1 validated p.T890fs 0.719 - - - - - - - - - superfamily_ARM repeat PGK2 5232 genome.wustl.edu 37 6 49754785 49754785 + Missense_Mutation SNP C C A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_138733.4 -1 reviewed p.R39M 1.000 396 0% 476 41.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PGK,superfamily_PGK PHF3 23469 genome.wustl.edu 37 6 64395512 64395512 + Missense_Mutation SNP C C A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_015153.2 +1 provisional p.P630H 1.000 170 0% 217 11.1% 5 20% probably_damaging(0.959) deleterious(0) deleterious(0.847) NULL COL9A1 1297 genome.wustl.edu 37 6 70926689 70926689 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001851.4 -1 reviewed p.G893* 0.990 61 0% 39 17.9% 0 - - - - HMMPfam_Collagen IBTK 25998 genome.wustl.edu 37 6 82924475 82924475 + Missense_Mutation SNP T T G novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_015525.2 -1 reviewed p.D558A 1.000 159 0% 168 39.9% 3 0% probably_damaging(0.991) tolerated(0.08) deleterious(0.744) superfamily_POZ domain,HMMPfam_BTB DOPEY1 23033 genome.wustl.edu 37 6 83863647 83863647 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_015018.2 +1 validated p.Q2092* 1.000 675 0% 719 40.6% 7 14.2% - - - NULL MDN1 23195 genome.wustl.edu 37 6 90428333 90428333 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_014611.1 -1 provisional p.R2112Q 0.977 190 0% 211 33.2% 5 0% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases REV3L 5980 genome.wustl.edu 37 6 111628688 111628688 + Missense_Mutation SNP G G T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_002912.3 -1 validated p.P3043H 1.000 258 0% 339 38.6% 33 30.3% possibly_damaging(0.563) tolerated(0.11) neutral(0.464) NULL HDAC2 3066 genome.wustl.edu 37 6 114292261 114292261 + Missense_Mutation SNP T T C novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001527.3 -1 reviewed p.T32A 0.312 13 0% 19 47.4% 71 26.7% unknown(0) tolerated(0.46) - NULL THEMIS 387357 genome.wustl.edu 37 6 128135050 128135050 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001010923.2 -1 reviewed p.P246S 0.998 224 0% 223 41.3% 0 - benign(0.006) tolerated(1) - NULL PTPRK 5796 genome.wustl.edu 37 6 128411093 128411093 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001135648.1 -1 validated p.A403T 1.000 306 0% 353 39.1% 22 9% benign(0.043) deleterious(0.03) neutral(0.367) HMMSmart_FN3,superfamily_FN_III-like LAMA2 3908 genome.wustl.edu 37 6 129691112 129691113 + Frame_Shift_Ins INS - - A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_000426.3 +1 reviewed p.M1647fs 1.000:1.000 - - - - - - - - - superfamily_ConA_like_lec_gl,HMMPfam_Laminin_I MYB 4602 genome.wustl.edu 37 6 135518269 135518269 + Silent SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001130173.1 +1 reviewed p.E458 1.000 194 0% 193 40.9% 0 - - - - NULL SHPRH 257218 genome.wustl.edu 37 6 146266636 146266636 + Silent SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001042683.2 -1 validated p.L487 1.000 413 0% 426 39.4% 2 0% - - - "HMMPfam_Linker_histone,HMMSmart_SM00526,HMMSmart_SM00487,superfamily_""Winged helix"" DNA-binding domain,superfamily_P-loop containing nucleoside triphosphate hydrolases" SYNE1 23345 genome.wustl.edu 37 6 152466677 152466677 + Silent SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_033071.2 -1 reviewed p.P8259 0.215 295 0% 419 37.5% 5 0% - - - NULL SYNE1 23345 genome.wustl.edu 37 6 152688201 152688201 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 ENST00000454018 -1 known p.T492I 0.000 34 0% 33 39.4% 2 50% benign(0.035) - - NULL SUN1 23353 genome.wustl.edu 37 7 899941 899941 + Silent SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 ENST00000433212 +1 known p.R416C 0.057 48 2.1% 52 15.4% 40 2.5% - - - NULL HOXA7 3204 genome.wustl.edu 37 7 27195932 27195932 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_006896.3 -1 reviewed p.G78D 1.000 30 0% 25 36% 0 - benign(0.05) tolerated(0.19) neutral(0.053) NULL GLI3 2737 genome.wustl.edu 37 7 42007518 42007518 + Missense_Mutation SNP A A G novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_000168.5 -1 reviewed p.S703P 1.000 188 0% 210 38.1% 4 25% possibly_damaging(0.868) tolerated(0.18) neutral(0.393) NULL TNS3 64759 genome.wustl.edu 37 7 47474967 47474967 + Silent SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_022748.10 -1 validated p.P79 0.081 75 0% 82 45.1% 18 16.6% - - - HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II LOC100289506 100289506 genome.wustl.edu 37 7 75959041 75959041 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 XM_002342770.1 +1 model p.G157S 0.987 211 0% 220 33.2% 149 27.5% - - - NULL HGF 3082 genome.wustl.edu 37 7 81355324 81355324 + Silent SNP T T G novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_000601.4 -1 reviewed p.R350 0.998 256 0% 317 38.5% 1 0% - - - HMMPfam_Kringle,HMMSmart_SM00130,superfamily_Kringle-like ZAN 7455 genome.wustl.edu 37 7 100361739 100361739 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_003386.1 +1 reviewed p.C1396Y 0.998 35 0% 36 33.3% 0 - probably_damaging(0.997) - - HMMPfam_C8 DOCK4 9732 genome.wustl.edu 37 7 111372286 111372286 + Missense_Mutation SNP A A G novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_014705.3 -1 reviewed p.L1817S 0.995 142 0% 185 37.3% 10 0% benign(0) tolerated(0.17) neutral(0.059) NULL PPP1R3A 5506 genome.wustl.edu 37 7 113559032 113559032 + Missense_Mutation SNP G G T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_002711.3 -1 reviewed p.P7H 0.952 46 0% 55 40% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CADPS2 93664 genome.wustl.edu 37 7 122028746 122028746 + Silent SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 ENST00000397721 -1 known p.T621I 1.000 238 0% 262 34.7% 26 7.6% - - - NULL GCC1 79571 genome.wustl.edu 37 7 127222495 127222495 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_024523.5 -1 reviewed p.S634L 0.068 124 0% 121 37.2% 13 23% benign(0.014) tolerated(0.19) neutral(0.050) NULL FLNC 2318 genome.wustl.edu 37 7 128492798 128492798 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001458.4 +1 reviewed p.R1999Q 1.000 47 0% 38 44.7% 9 0% benign(0.018) tolerated(0.06) neutral(0.323) HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin CDK5 1020 genome.wustl.edu 37 7 150753877 150753877 + Silent SNP A A G novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_004935.3 -1 validated p.H67 1.000 75 0% 87 34.5% 31 35.4% - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase UBE3C 9690 genome.wustl.edu 37 7 156975019 156975019 + Silent SNP T T C novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_014671.2 +1 validated p.L330 0.498 188 0% 236 21.2% 17 5.8% - - - NULL MTUS1 57509 genome.wustl.edu 37 8 17512152 17512152 + Silent SNP A A G novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001001924.2 -1 reviewed p.H1044 0.984 249 0% 323 34.7% 7 14.2% - - - NULL SORBS3 10174 genome.wustl.edu 37 8 22428455 22428455 + Silent SNP C C T rs191905902 by1000genomes TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_005775.4 +1 validated p.N488 0.363 60 0% 42 31% 99 11.1% - - - HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain CHRNA6 8973 genome.wustl.edu 37 8 42611890 42611890 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_004198.2 -1 provisional p.P151L 1.000 305 0% 336 35.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like VCPIP1 80124 genome.wustl.edu 37 8 67576551 67576551 + Silent SNP T T C novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_025054.4 -1 validated p.S881 0.964 230 0% 247 39.7% 2 50% - - - NULL STK3 6788 genome.wustl.edu 37 8 99591972 99591972 + Missense_Mutation SNP G G T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_006281.2 -1 validated p.L290M 1.000 613 0% 745 37.3% 16 37.5% probably_damaging(0.996) tolerated(0.69) neutral(0.464) superfamily_Protein kinase-like (PK-like) WDR67 93594 genome.wustl.edu 37 8 124140595 124140595 + Silent SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_145647.3 +1 validated p.T653 0.013 246 0% 316 39.6% 4 0% - - - superfamily_Ypt/Rab-GAP domain of gyp1p KIAA0196 9897 genome.wustl.edu 37 8 126087249 126087249 + Silent SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_014846.3 -1 reviewed p.V323 1.000 378 0% 504 38.7% 10 10% - - - HMMPfam_Strumpellin EIF2C2 27161 genome.wustl.edu 37 8 141559317 141559317 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 ENST00000220592 -1 known p.A495V 1.000 75 0% 67 35.8% 9 11.1% benign(0.02) deleterious(0.01) neutral(0.407) NULL EPPK1 83481 genome.wustl.edu 37 8 144942392 144942392 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_031308.1 -1 validated p.G1677D 0.999 123 0% 109 35.8% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMSmart_SM00250,superfamily_Plakin repeat RANBP6 26953 genome.wustl.edu 37 9 6012624 6012625 + Frame_Shift_Del DEL AC AC - novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 AC AC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_012416.2 -1 validated p.V995fs 1.000:1.000 - - - - - - - - - NULL CCL21 6366 genome.wustl.edu 37 9 34709787 34709787 + Missense_Mutation SNP T T C novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_002989.2 -1 reviewed p.I59V 0.987 80 0% 68 36.8% 36 0% benign(0.007) tolerated(0.29) neutral(0.029) HMMPfam_IL8,HMMSmart_SM00199,superfamily_Interleukin 8-like chemokines NPR2 4882 genome.wustl.edu 37 9 35802224 35802224 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_003995.3 +1 reviewed p.H552Y 1.000 396 0% 581 12.7% 9 0% benign(0) tolerated(1) - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ALDH1A1 216 genome.wustl.edu 37 9 75516131 75516133 + In_Frame_Del DEL TTC TTC - novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_000689.3 -1 reviewed p.K499in_frame_del 1.000:1.000:1.000 - - - - - - - - - superfamily_ALDH-like TLE4 7091 genome.wustl.edu 37 9 82323671 82323671 + Silent SNP T T C novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 ENST00000496114 +1 known p.C202R 0.007 61 1.6% 36 27.8% 7 0% - - - NULL SLC28A3 64078 genome.wustl.edu 37 9 86914629 86914631 + In_Frame_Del DEL CTC CTC - novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_022127.1 -1 provisional p.WS178in_frame_delC 0.504:0.877:0.995 - - - - - - - - - NULL WNK2 65268 genome.wustl.edu 37 9 96015197 96015197 + Missense_Mutation SNP A A G novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_006648.3 +1 reviewed p.T623A 1.000 31 0% 22 27.3% 3 0% unknown(0) tolerated(0.19) - superfamily_Kinase_like TRIM32 22954 genome.wustl.edu 37 9 119460227 119460227 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001099679.1 +1 reviewed p.R69H 1.000 134 0% 124 33.1% 4 25% possibly_damaging(0.54) deleterious(0.01) deleterious(0.589) superfamily_SSF57850 TTLL11 158135 genome.wustl.edu 37 9 124585093 124585093 + Missense_Mutation SNP G G A rs182523001 by1000genomes TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001139442.1 -1 validated p.P726S 0.269 37 0% 58 41.4% 1 100% possibly_damaging(0.452) tolerated(0.09) neutral(0.445) NULL ZBTB43 23099 genome.wustl.edu 37 9 129595572 129595572 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001135776.1 +1 validated p.A262T 0.014 54 0% 66 36.4% 1 0% benign(0.007) tolerated(0.06) neutral(0.323) NULL SPTAN1 6709 genome.wustl.edu 37 9 131346739 131346739 + Missense_Mutation SNP G G T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001130438.1 +1 validated p.R791L 1.000 103 0% 103 33% 28 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin C9orf114 51490 genome.wustl.edu 37 9 131588379 131588379 + Silent SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_016390.2 -1 validated p.S187 0.001 125 0% 120 37.5% 17 29.4% - - - HMMPfam_DUF171,superfamily_Nucleic_acid_OB,superfamily_SSF75217 ENSG00000249728 0 genome.wustl.edu 37 9 133346366 133346366 + RNA SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 ENST00000503205 -1 novel NULL 0.000 120 0% 97 34% 0 - - - - - SEC16A 9919 genome.wustl.edu 37 9 139371310 139371310 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_014866.1 -1 validated p.P253L 0.001 67 0% 61 59% 12 41.6% unknown(0) deleterious(0) - NULL TUBB4B 10383 genome.wustl.edu 37 9 140136440 140136440 + Missense_Mutation SNP G G T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_006088.5 +1 validated p.G82W 1.000 79 0% 41 24.4% 196 25% probably_damaging(1) - - HMMPfam_Tubulin,superfamily_Tubulin nucleotide-binding domain-like PNPLA7 375775 genome.wustl.edu 37 9 140361772 140361772 + Silent SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001098537.1 -1 validated p.A1012 0.438 70 0% 71 36.6% 1 0% - - - HMMPfam_Patatin,superfamily_FabD/lysophospholipase-like GAD2 2572 genome.wustl.edu 37 10 26507977 26507977 + Silent SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_000818.2 +1 reviewed p.L98 1.000 213 0% 241 40.2% 0 - - - - NULL ARMC4 55130 genome.wustl.edu 37 10 28274003 28274003 + Silent SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_018076.2 -1 validated p.L174 0.806 249 0% 361 41% 0 - - - - NULL HNRNPF 3185 genome.wustl.edu 37 10 43882717 43882717 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001098204.1 -1 reviewed p.R206W 0.997 101 0% 72 40.3% 235 35.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL RGR 5995 genome.wustl.edu 37 10 86008737 86008737 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_002921.3 +1 reviewed p.A103V 0.308 30 0% 32 53.1% 0 - benign(0.01) tolerated(0.17) neutral(0.059) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PAPSS2 9060 genome.wustl.edu 37 10 89472995 89472995 + Silent SNP T T C novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001015880.1 +1 reviewed p.I103 0.987 150 0% 182 38.5% 5 0% - - - HMMPfam_APS_kinase,superfamily_SSF52540 PKD2L1 9033 genome.wustl.edu 37 10 102052703 102052703 + Splice_Site SNP A A C novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_016112.2 -1 reviewed e11+2 1.000 239 0% 281 28.8% 0 - - - - - MMP21 118856 genome.wustl.edu 37 10 127460875 127460875 + Silent SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_147191.1 -1 reviewed p.T297 0.000 177 0% 262 32.1% 1 100% - - - "HMMPfam_Peptidase_M10,HMMSmart_SM00235,superfamily_Metalloproteases (""zincins"") catalytic domain" SYCE1 93426 genome.wustl.edu 37 10 135369361 135369361 + Silent SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001143764.1 -1 validated p.C214 0.250 81 0% 77 33.8% 0 - - - - NULL PNPLA2 57104 genome.wustl.edu 37 11 822494 822494 + Missense_Mutation SNP C C T rs121918259 TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_020376.2 +1 provisional p.P195L 1.000 142 0% 184 39.1% 76 30.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MUC2 4583 genome.wustl.edu 37 11 1092570 1092570 + Silent SNP C C A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_002457.2 +1 reviewed p.T1463 0.375 1263 0.2% 1471 20.1% 0 - - - - NULL NAP1L4 4676 genome.wustl.edu 37 11 2981001 2981001 + Missense_Mutation SNP C C A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_005969.3 -1 reviewed p.G249W 1.000 392 0.3% 485 38.4% 86 22% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_NAP C11orf16 56673 genome.wustl.edu 37 11 8948674 8948674 + Silent SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_020643.2 -1 validated p.V124 0.000 77 0% 62 40.3% 0 - - - - NULL PTH 5741 genome.wustl.edu 37 11 13514356 13514356 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_000315.2 -1 reviewed p.A16V 0.999 298 0% 361 39.9% 0 - benign(0.298) deleterious(0.01) deleterious(0.498) HMMPfam_Parathyroid NAV2 89797 genome.wustl.edu 37 11 19970408 19970408 + Silent SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_182964.5 +1 validated p.N809 0.995 51 0% 60 33.3% 5 60% - - - NULL SLC17A6 57084 genome.wustl.edu 37 11 22363168 22363168 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_020346.2 +1 validated p.D61N 1.000 25 0% 24 25% 0 - benign(0.075) tolerated(0.19) neutral(0.054) superfamily_MFS_gen_substrate_transporter MPPED2 744 genome.wustl.edu 37 11 30601859 30601859 + Missense_Mutation SNP T T G novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001584.2 -1 reviewed p.N21T 1.000 429 0% 503 44.5% 17 29.4% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) NULL HIPK3 10114 genome.wustl.edu 37 11 33308665 33308665 + Silent SNP C C A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_005734.3 +1 validated p.A235 0.863 174 0% 177 14.7% 5 0% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase AMBRA1 55626 genome.wustl.edu 37 11 46529855 46529855 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_017749.2 -1 validated p.R652H 1.000 131 0% 193 31.6% 9 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL OR5T3 390154 genome.wustl.edu 37 11 56020471 56020471 + Missense_Mutation SNP A A G novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001004747.1 +1 provisional p.K266E 0.997 353 0% 435 37.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 OR9I1 219954 genome.wustl.edu 37 11 57886350 57886350 + Silent SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001005211.1 -1 validated p.C189 0.997 148 0% 239 30.5% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR5A2 219981 genome.wustl.edu 37 11 59190377 59190377 + Missense_Mutation SNP C C A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001001954.1 -1 provisional p.G17V 0.986 91 0% 143 37.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Family A G protein-coupled receptor-like TMEM216 51259 genome.wustl.edu 37 11 61165375 61165375 + Missense_Mutation SNP T T C novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_016499.4 +1 validated p.M59T 1.000 366 0% 381 35.4% 31 38.7% benign(0.134) deleterious(0) neutral(0.456) HMMPfam_Transmemb_17 SPTBN2 6712 genome.wustl.edu 37 11 66453435 66453435 + Silent SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_006946.2 -1 reviewed p.P2360 0.056 37 0% 28 35.7% 32 59.3% - - - NULL AIP 9049 genome.wustl.edu 37 11 67254537 67254537 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_003977.2 +1 reviewed p.R54W 0.725 73 0% 113 37.2% 59 22% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FKBP_C,superfamily_SSF54534 UNC93B1 81622 genome.wustl.edu 37 11 67765851 67765851 + Silent SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 ENST00000227471 -1 known p.T253 0.594 104 0% 152 28.9% 35 22.8% - - - NULL STARD10 10809 genome.wustl.edu 37 11 72492049 72492049 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_006645.2 -1 validated p.E60* 1.000 141 0% 161 44.1% 43 6.9% - - - HMMPfam_START,HMMSmart_START,superfamily_SSF55961 ODZ4 26011 genome.wustl.edu 37 11 78380911 78380911 + Missense_Mutation SNP C C T rs144957611 by1000genomes TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001098816.2 -1 validated p.R2160H 1.000 139 0% 178 36.5% 0 - probably_damaging(1) tolerated(0.08) deleterious(0.800) NULL LOC653111 653111 genome.wustl.edu 37 11 89768543 89768543 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 XM_926073.2 +1 model p.C55Y 0.306 401 0% 478 33.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00184,superfamily_RING/U-box FAT3 120114 genome.wustl.edu 37 11 92616097 92616097 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001008781.2 +1 validated p.A4159T 1.000 185 0.5% 129 43.4% 0 - probably_damaging(0.998) tolerated(0.05) deleterious(0.820) NULL FUT4 2526 genome.wustl.edu 37 11 94278534 94278534 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_002033.3 +1 reviewed p.A412V 1.000 37 2.7% 47 31.9% 2 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Glyco_transf_10 ALKBH8 91801 genome.wustl.edu 37 11 107422591 107422591 + Missense_Mutation SNP C C A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_138775.2 -1 validated p.G215C 0.998 300 0% 408 36.8% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ATM 472 genome.wustl.edu 37 11 108205764 108205766 + In_Frame_Del DEL AGG AGG - novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_000051.3 +1 reviewed p.G2695in_frame_del 0.997:1.000:1.000 - - - - - - - - - superfamily_Protein kinase-like (PK-like),superfamily_ARM repeat CRYAB 1410 genome.wustl.edu 37 11 111781056 111781056 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001885.1 -1 reviewed p.R107C 1.000 200 0% 232 19.8% 73 5.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HSP20,superfamily_HSP20-like chaperones CRTAM 56253 genome.wustl.edu 37 11 122726508 122726508 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_019604.2 +1 validated p.R199Q 0.048 257 0% 292 35.6% 0 - benign(0.149) tolerated(0.26) neutral(0.047) HMMPfam_C2-set_2,superfamily_Immunoglobulin KCNA5 3741 genome.wustl.edu 37 12 5154218 5154218 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_002234.2 +1 reviewed p.G302E 0.003 56 0% 27 51.9% 1 0% benign(0) tolerated(0.15) neutral(0.241) superfamily_Voltage-gated potassium channels CD163 9332 genome.wustl.edu 37 12 7640677 7640677 + Missense_Mutation SNP C C A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_004244.4 -1 validated p.R476M 1.000 117 0% 99 47.5% 3 0% probably_damaging(0.984) tolerated(0.16) deleterious(0.490) superfamily_SRCR-like ETV6 2120 genome.wustl.edu 37 12 12006464 12006464 + Silent SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001987.4 +1 reviewed p.P144 0.104 364 0% 503 31.8% 14 14.2% - - - NULL DUSP16 80824 genome.wustl.edu 37 12 12674020 12674020 + Missense_Mutation SNP T T C novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_030640.2 -1 reviewed p.M5V 1.000 380 0% 453 34% 14 28.5% unknown(0) - - NULL LDHB 3945 genome.wustl.edu 37 12 21790088 21790088 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_002300.6 -1 reviewed p.A252T 1.000 250 0% 223 35.4% 871 40% possibly_damaging(0.559) deleterious(0) deleterious(0.635) HMMPfam_Ldh_1_C,superfamily_LDH C-terminal domain-like ETNK1 55500 genome.wustl.edu 37 12 22796738 22796738 + Silent SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_018638.4 +1 reviewed p.Y155 0.124 183 0% 172 38.4% 13 53.8% - - - superfamily_Kinase_like ENSG00000223722 0 genome.wustl.edu 37 12 31907747 31907747 + Silent SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 ENST00000453713 +1 known p.L32 0.028 125 0% 108 43.5% 1 0% - - - NULL CNTN1 1272 genome.wustl.edu 37 12 41419028 41419028 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001843.2 +1 reviewed p.R867K 1.000 115 0% 127 37% 9 0% benign(0) tolerated(0.7) neutral(0.002) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III SENP1 29843 genome.wustl.edu 37 12 48468123 48468123 + Silent SNP T T C novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_014554.2 -1 validated p.S308 1.000 254 0% 360 37.8% 11 36.3% - - - NULL KCNH3 23416 genome.wustl.edu 37 12 49943259 49943259 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_012284.1 +1 validated p.A502T 1.000 53 0% 35 28.6% 22 40.9% probably_damaging(0.997) tolerated(0.22) deleterious(0.508) superfamily_SSF81324 KRT80 144501 genome.wustl.edu 37 12 52585571 52585571 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_182507.2 -1 reviewed p.P39L 0.000 26 0% 13 76.9% 4 50% probably_damaging(0.958) tolerated(0.69) neutral(0.404) NULL TENC1 23371 genome.wustl.edu 37 12 53453102 53453102 + Silent SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_015319.2 +1 reviewed p.R569 0.018 22 0.000 9 0.556 11 0% - - - NULL ITGA5 3678 genome.wustl.edu 37 12 54797076 54797076 + Silent SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_002205.2 -1 reviewed p.P603 0.007 345 0% 378 40.2% 83 0% - - - HMMPfam_Integrin_alpha2,superfamily_SSF69179 PHC1P1 653441 genome.wustl.edu 37 12 55806640 55806640 + Missense_Mutation SNP A A G novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 ENST00000379664 -1 known p.C564R 0.199 201 0% 251 37.8% 11 0% - - - NULL SLC39A5 283375 genome.wustl.edu 37 12 56625331 56625331 + Silent SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001135195.1 +1 validated p.D91 0.967 89 0% 74 37.8% 0 - - - - NULL SLC16A7 9194 genome.wustl.edu 37 12 60098706 60098706 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_004731.3 +1 provisional p.V42I 1.000 199 0% 297 32% 0 - benign(0.253) tolerated(0.39) neutral(0.042) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter PTPRB 5787 genome.wustl.edu 37 12 71031124 71031124 + Missense_Mutation SNP A A C novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001109754.1 -1 reviewed p.S18A 0.993 240 0% 273 31.5% 2 0% possibly_damaging(0.941) deleterious(0) deleterious(0.831) superfamily_Ricin B-like lectins ZFC3H1 196441 genome.wustl.edu 37 12 72026210 72026210 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_144982.4 -1 validated p.R968W 1.000 113 0% 114 36.8% 4 50% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL MYF6 4618 genome.wustl.edu 37 12 81101799 81101799 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_002469.2 +1 reviewed p.R101C 1.000 63 0% 51 31.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HLH,HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain C12orf29 91298 genome.wustl.edu 37 12 88433990 88433990 + Silent SNP A A G novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001009894.2 +1 validated p.A52 0.998 236 0% 321 38.9% 11 45.4% - - - NULL SPIC 121599 genome.wustl.edu 37 12 101880174 101880174 + Silent SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_152323.1 +1 provisional p.P124 0.042 181 0% 207 38.2% 0 - - - - HMMPfam_Ets,HMMSmart_ETS,superfamily_SSF46785 CKAP4 10970 genome.wustl.edu 37 12 106633935 106633935 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_006825.3 -1 validated p.R226W 1.000 165 0% 146 42.5% 97 26.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL C12orf34 84915 genome.wustl.edu 37 12 110182028 110182028 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_032829.2 +1 validated p.R26H 1.000 17 0% 10 50% 7 14.2% possibly_damaging(0.897) deleterious(0.02) deleterious(0.737) NULL ATXN2 6311 genome.wustl.edu 37 12 111907943 111907943 + Silent SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_002973.3 -1 reviewed p.Y1095 1.000 178 0% 247 36.4% 25 36% - - - NULL DDX54 79039 genome.wustl.edu 37 12 113596744 113596744 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001111322.1 -1 reviewed p.Q863* 0.990 18 0% 21 28.6% 44 43.1% - - - NULL TESC 54997 genome.wustl.edu 37 12 117484422 117484422 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_017899.3 -1 validated p.A207V 0.294 43 0% 29 27.6% 24 12.5% benign(0.113) deleterious(0) neutral(0.454) superfamily_EF-hand RNF10 9921 genome.wustl.edu 37 12 121001391 121001391 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_014868.4 +1 reviewed p.R499H 0.204 135 0.7% 134 35.1% 120 32.5% benign(0) tolerated(0.34) neutral(0.023) NULL HNF1A 6927 genome.wustl.edu 37 12 121432115 121432115 + Frame_Shift_Del DEL G G - novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_000545.5 +1 reviewed p.P291fs 0.964 - - - - - - - - - HMMPfam_HNF-1B_C HCAR2 338442 genome.wustl.edu 37 12 123187646 123187646 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_177551.3 -1 validated p.S62N 1.000 143 0% 175 38.3% 1 0% benign(0.044) tolerated(0.57) neutral(0.009) HMMPfam_7tm_1,superfamily_SSF81321 PIWIL1 9271 genome.wustl.edu 37 12 130834471 130834471 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_004764.3 +1 reviewed p.A335T 1.000 200 0% 246 38.6% 0 - benign(0.092) tolerated(0.24) neutral(0.044) HMMPfam_PAZ,superfamily_PAZ domain RIMBP2 23504 genome.wustl.edu 37 12 130926735 130926735 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_015347.4 -1 validated p.V371I 0.996 250 0.4% 243 28.4% 0 - benign(0.004) tolerated(0.23) neutral(0.042) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PSPC1 55269 genome.wustl.edu 37 13 20277470 20277470 + Missense_Mutation SNP A A C novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001042414.1 -1 validated p.S473A 1.000 215 0% 278 20.5% 18 38.8% benign(0.039) tolerated(0.26) neutral(0.036) NULL USPL1 10208 genome.wustl.edu 37 13 31195355 31195355 + Silent SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_005800.4 +1 validated p.H26 1.000 374 0% 418 33.5% 1 100% - - - NULL ZAR1L 646799 genome.wustl.edu 37 13 32885607 32885607 + Silent SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001136571.1 -1 reviewed p.A152 0.000 19 0.000 7 0.714 0 - - - - NULL NBEA 26960 genome.wustl.edu 37 13 35806714 35806714 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_015678.4 +1 validated p.R1912C 1.000 342 0% 375 31.7% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat POU4F1 5457 genome.wustl.edu 37 13 79176526 79176526 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_006237.3 -1 validated p.T95M 1.000 14 0% 10 60% 0 - unknown(0) deleterious(0.02) - NULL MYO16 23026 genome.wustl.edu 37 13 109793504 109793504 + Silent SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_015011.1 +1 validated p.A1626 0.000 57 0% 41 41.5% 0 - - - - NULL LOC100289447 100289447 genome.wustl.edu 37 13 113803630 113803630 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 XM_002344234.1 -1 model p.R56W 0.960 33 0% 41 46.3% 1 0% - - - NULL OR4K2 390431 genome.wustl.edu 37 14 20344843 20344843 + Missense_Mutation SNP G G T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001005501.1 +1 provisional p.Q139H 0.000 437 0.2% 566 36.6% 0 - benign(0) deleterious(0.05) neutral(0.345) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ARHGEF40 55701 genome.wustl.edu 37 14 21542635 21542635 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_018071.3 +1 validated p.T249M 0.985 62 0% 71 23.9% 14 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SALL2 6297 genome.wustl.edu 37 14 21993142 21993142 + Silent SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_005407.1 -1 validated p.P240 0.007 86 0% 96 38.5% 12 8.3% - - - NULL CEBPE 1053 genome.wustl.edu 37 14 23587814 23587814 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001805.2 -1 reviewed p.G163S 0.987 11 0% 14 28.6% 0 - benign(0) tolerated(0.74) neutral(0.002) NULL LOC728667 728667 genome.wustl.edu 37 14 24296568 24296568 + Missense_Mutation SNP A A G novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 XM_001128080.3 -1 model p.I13T 0.001 10 0% 11 54.5% 0 - - - - NULL CIDEB 27141 genome.wustl.edu 37 14 24774960 24774960 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_014430.2 -1 validated p.R180H 0.975 107 0.9% 104 33.7% 18 16.6% benign(0.043) deleterious(0) neutral(0.447) NULL NPAS3 64067 genome.wustl.edu 37 14 34204508 34204508 + Silent SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_173159.2 +1 reviewed p.R261 0.011 243 0% 332 40.7% 4 75% - - - NULL LOC100287214 100287214 genome.wustl.edu 37 14 65008083 65008083 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 XM_002343281.1 -1 model p.A371T 0.895 41 0% 33 33.3% 33 6% - - - HMMPfam_NAD-GH GSTZ1 2954 genome.wustl.edu 37 14 77794294 77794294 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_145870.2 +1 reviewed p.P86S 0.941 89 0% 83 39.8% 10 30% benign(0.028) tolerated(0.07) neutral(0.321) superfamily_Thioredoxin-like DICER1 23405 genome.wustl.edu 37 14 95569702 95569702 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_030621.3 -1 reviewed p.S1344L 1.000 88 0% 112 41.1% 11 45.4% possibly_damaging(0.893) deleterious(0) deleterious(0.796) HMMPfam_Ribonuclease_3,HMMSmart_RIBOc,superfamily_RNase_III RTL1 388015 genome.wustl.edu 37 14 101349909 101349909 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001134888.2 -1 reviewed p.R406H 0.020 58 0% 46 41.3% 70 50% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) superfamily_Acid proteases MIR1247 100302145 genome.wustl.edu 37 14 102026702 102026702 + RNA SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 ENST00000408206 -1 known NULL 1.000 21 0% 12 66.7% 2 0% - - - - PPP1R13B 23368 genome.wustl.edu 37 14 104206407 104206407 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 ENST00000380023 -1 known p.R627C 0.000 132 0% 203 45.3% 16 25% unknown(0) deleterious(0) - NULL PPP1R13B 23368 genome.wustl.edu 37 14 104212711 104212711 + Silent SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_015316.2 -1 reviewed p.S383 0.985 70 0% 70 34.3% 10 10% - - - NULL AHNAK2 113146 genome.wustl.edu 37 14 105407055 105407055 + Silent SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_138420.2 -1 validated p.L4911 0.000 73 0% 107 16.8% 3 0% - - - NULL HERC2 8924 genome.wustl.edu 37 15 28431880 28431880 + Frame_Shift_Del DEL T T - novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_004667.4 -1 reviewed p.I2890fs 1.000 - - - - - - - - - superfamily_Galactose-binding domain-like CHRFAM7A 89832 genome.wustl.edu 37 15 30663322 30663322 + Missense_Mutation SNP A A G novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_139320.1 -1 reviewed p.S197P 1.000 756 0% 1120 22.1% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM RYR3 6263 genome.wustl.edu 37 15 33795931 33795931 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001036.3 +1 validated p.G91S 0.997 186 0% 206 37.4% 0 - benign(0) - - HMMPfam_Ins145_P3_rec RPUSD2 27079 genome.wustl.edu 37 15 40866195 40866195 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_152260.1 +1 provisional p.A458V 0.030 87 0% 61 39.3% 15 40% benign(0.036) tolerated(0.25) neutral(0.039) superfamily_PsdUridine_synth_cat_dom DUOX2 50506 genome.wustl.edu 37 15 45397963 45397963 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_014080.4 -1 reviewed p.V738M 0.000 104 0% 109 45% 1 100% benign(0.409) tolerated(0.11) neutral(0.404) NULL ZWILCH 55055 genome.wustl.edu 37 15 66801172 66801172 + RNA SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NR_003105.1 +1 validated NULL 0.317 324 0% 477 19.3% 0 - - - - - PKM2 5315 genome.wustl.edu 37 15 72499084 72499085 + Frame_Shift_Del DEL CA CA - novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_002654.3 -1 reviewed p.V375fs 0.072:0.999 - - - - - - - - - HMMPfam_PK,superfamily_PK C-terminal domain-like,superfamily_Phosphoenolpyruvate/pyruvate domain MAN2C1 4123 genome.wustl.edu 37 15 75650841 75650841 + Silent SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_006715.2 -1 validated p.L789 1.000 32 0% 22 31.8% 42 28.5% - - - HMMPfam_Glyco_hydro_38C UBE2Q2 92912 genome.wustl.edu 37 15 76161328 76161330 + In_Frame_Del DEL GAA GAA - novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_173469.2 +1 validated p.E145in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL AKAP13 11214 genome.wustl.edu 37 15 86125132 86125132 + Missense_Mutation SNP T T C novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_006738.4 +1 reviewed p.M1278T 0.000 81 0% 93 34.4% 2 0% benign(0.006) tolerated(0.27) neutral(0.034) NULL SYNM 23336 genome.wustl.edu 37 15 99670283 99670284 + Frame_Shift_Del DEL GA GA - novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 ENST00000336292 +1 known p.E575fs 0.000:0.000 - - - - - - - - - NULL MEF2A 4205 genome.wustl.edu 37 15 100211863 100211863 + Splice_Site SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_005587.2 +1 reviewed e3+1 1.000 131 0% 137 25.5% 2 0% - - - - WFIKKN1 117166 genome.wustl.edu 37 16 683716 683716 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_053284.2 +1 reviewed p.A436T 1.000 20 0% 15 40% 0 - possibly_damaging(0.647) tolerated(0.14) deleterious(0.477) superfamily_TIMP_like CRAMP1L 57585 genome.wustl.edu 37 16 1703129 1703129 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_020825.3 +1 validated p.Q337* 1.000 68 0% 68 44.1% 7 14.2% - - - NULL IGFALS 3483 genome.wustl.edu 37 16 1841980 1841980 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_004970.2 -1 reviewed p.A147T 0.649 13 0% 15 33.3% 0 - benign(0) tolerated(0.32) neutral(0.024) HMMPfam_LRR_1,superfamily_SSF52058 MSRB1 51734 genome.wustl.edu 37 16 1989129 1989129 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_016332.2 -1 reviewed p.A112V 0.425 176 0% 207 41.1% 20 20% benign(0) tolerated(0.05) neutral(0.345) superfamily_Mss4-like PKD1 5310 genome.wustl.edu 37 16 2140405 2140405 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001009944.2 -1 reviewed p.R4109C 0.989 22 0% 16 31.2% 13 15.3% probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMPfam_PKD_channel E4F1 1877 genome.wustl.edu 37 16 2282891 2282892 + Frame_Shift_Del DEL AA AA - novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 AA AA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_004424.3 +1 reviewed p.K289fs 1.000:1.000 - - - - - - - - - NULL VPS35 55737 genome.wustl.edu 37 16 46706254 46706254 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_018206.4 -1 reviewed p.E431K 1.000 186 0% 247 35.6% 55 23.6% benign(0.042) tolerated(0.76) neutral(0.004) HMMPfam_Vps35 CNEP1R1 255919 genome.wustl.edu 37 16 50068024 50068024 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_153261.4 +1 provisional p.R115Q 1.000 364 0% 568 33.1% 14 7.1% possibly_damaging(0.911) deleterious(0) deleterious(0.807) HMMPfam_Tmemb_18A GINS3 64785 genome.wustl.edu 37 16 58437109 58437109 + Silent SNP T T C novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001126129.1 +1 reviewed p.T137 0.000 92 0% 108 31.5% 7 0% - - - HMMPfam_Psf3 C16orf86 388284 genome.wustl.edu 37 16 67701560 67701560 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 ENST00000291011 +1 known p.P53S 0.000 58 0% 87 33.3% 0 - - - - NULL NFATC3 4775 genome.wustl.edu 37 16 68225386 68225386 + Silent SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_173165.1 +1 reviewed p.P938 0.999 211 0% 257 38.1% 49 22.4% - - - NULL PHLPP2 23035 genome.wustl.edu 37 16 71692625 71692625 + Silent SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_015020.2 -1 validated p.L693 1.000 608 0% 763 18.2% 2 0% - - - HMMSmart_SM00364,superfamily_L domain-like WDR59 79726 genome.wustl.edu 37 16 74937909 74937909 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_030581.3 -1 validated p.S601N 1.000 151 0% 124 31.5% 15 46.6% benign(0.103) tolerated(0.27) neutral(0.042) NULL TRPV1 7442 genome.wustl.edu 37 17 3494438 3494438 + Missense_Mutation SNP A A C novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 ENST00000399752 -1 known p.C140G 0.000 137 0% 126 34.9% 0 - benign(0.014) - - NULL SPNS2 124976 genome.wustl.edu 37 17 4439685 4439687 + In_Frame_Del DEL TCT TCT - novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001124758.1 +1 provisional p.F526in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL NEURL4 84461 genome.wustl.edu 37 17 7232441 7232441 + Missense_Mutation SNP T T C novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_032442.2 -1 validated p.Q64R 1.000 14 0% 10 40% 4 25% unknown(0) tolerated(0.67) - HMMPfam_Neuralized,HMMSmart_SM00588 ALOX12B 242 genome.wustl.edu 37 17 7976472 7976472 + Silent SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001139.2 -1 reviewed p.D640 0.426 110 0% 92 47.8% 0 - - - - HMMPfam_Lipoxygenase,superfamily_Lipoxygenase FLCN 201163 genome.wustl.edu 37 17 17124885 17124885 + Silent SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_144997.5 -1 reviewed p.T279 0.002 40 0% 41 39% 16 12.5% - - - NULL MYO15A 51168 genome.wustl.edu 37 17 18024994 18024994 + Silent SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_016239.3 +1 reviewed p.P960 0.000 14 0% 13 30.8% 0 - - - - NULL LLGL1 3996 genome.wustl.edu 37 17 18146112 18146112 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_004140.3 +1 reviewed p.A1058T 0.072 53 0% 55 12.7% 25 0% benign(0.03) tolerated(0.08) neutral(0.301) NULL FBXW10 10517 genome.wustl.edu 37 17 18651252 18651252 + Splice_Site SNP A A G novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_031456.3 +1 validated e2-2 0.038 413 0% 487 32.6% 0 - - - - - FBXW10 10517 genome.wustl.edu 37 17 18668134 18668134 + Missense_Mutation SNP A A G novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_031456.3 +1 validated p.K505E 0.988 663 0% 819 9.8% 0 - benign(0.227) tolerated(0.46) neutral(0.035) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 LIG3 3980 genome.wustl.edu 37 17 33319549 33319549 + Silent SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_013975.2 +1 reviewed p.D431 1.000 171 0% 202 34.7% 20 30% - - - HMMPfam_DNA_ligase_A_N TAF15 8148 genome.wustl.edu 37 17 34147241 34147242 + Frame_Shift_Del DEL AA AA - novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 AA AA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_139215.1 +1 reviewed p.Q60fs 0.730:0.805 - - - - - - - - - NULL DUSP14 11072 genome.wustl.edu 37 17 35872828 35872828 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_007026.2 +1 validated p.V152I 1.000 52 0% 81 33.3% 48 29.1% benign(0) tolerated(0.5) neutral(0.010) HMMPfam_DSPc,HMMSmart_SM00195,superfamily_(Phosphotyrosine protein) phosphatases II CACNB1 782 genome.wustl.edu 37 17 37331662 37331662 + Silent SNP T T G novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_000723.3 -1 reviewed p.S527 0.797 85 0% 57 31.6% 4 25% - - - NULL SMARCE1 6605 genome.wustl.edu 37 17 38787038 38787038 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_003079.4 -1 reviewed p.V319I 0.000 362 0.3% 409 36.7% 240 32.5% benign(0.176) tolerated(0.52) neutral(0.025) NULL KRT25 147183 genome.wustl.edu 37 17 38907470 38907470 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_181534.3 -1 reviewed p.E260K 1.000 199 0% 211 36% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Filament SPATA20 64847 genome.wustl.edu 37 17 48632646 48632646 + Silent SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_022827.2 +1 provisional p.C737 0.990 244 0% 259 39% 43 27.9% - - - NULL KCNH6 81033 genome.wustl.edu 37 17 61613096 61613096 + Silent SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_030779.2 +1 reviewed p.L390 1.000 48 0% 46 32.6% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels APOH 350 genome.wustl.edu 37 17 64224207 64224207 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_000042.2 -1 reviewed p.R58* 0.086 374 0% 423 34.3% 0 - - - - HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module DNAI2 64446 genome.wustl.edu 37 17 72308222 72308222 + Silent SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_023036.4 +1 reviewed p.A525 0.008 77 0% 65 40% 0 - - - - superfamily_WD40 repeat-like LGALS3BP 3959 genome.wustl.edu 37 17 76970878 76970878 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_005567.3 -1 reviewed p.E90K 0.519 51 0% 35 34.3% 343 27.9% possibly_damaging(0.888) deleterious(0.02) deleterious(0.730) HMMPfam_SRCR,HMMSmart_SR,superfamily_Srcr_receptor MC4R 4160 genome.wustl.edu 37 18 58038903 58038903 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_005912.2 -1 reviewed p.A227V 1.000 66 0% 88 36.4% 0 - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like MBP 4155 genome.wustl.edu 37 18 74696766 74696766 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001025101.1 -1 reviewed p.D279N 0.000 164 0% 171 35.7% 0 - possibly_damaging(0.94) deleterious(0) deleterious(0.830) HMMPfam_Myelin_MBP CSNK1G2 1455 genome.wustl.edu 37 19 1979769 1979769 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001319.6 +1 validated p.V341I 0.987 66 0% 54 35.2% 71 15.4% benign(0) tolerated(0.35) neutral(0.021) NULL THOP1 7064 genome.wustl.edu 37 19 2810761 2810761 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_003249.3 +1 provisional p.T589M 0.978 14 0% 10 40% 52 23% probably_damaging(0.999) tolerated(0.07) deleterious(0.809) HMMPfam_Peptidase_M3,superfamily_SSF55486 TRIP10 9322 genome.wustl.edu 37 19 6750397 6750397 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_004240.2 +1 validated p.P441L 0.922 91 0% 52 46.2% 43 13.9% benign(0.123) tolerated(0.25) neutral(0.047) superfamily_SH3-domain MUC16 94025 genome.wustl.edu 37 19 9000565 9000565 + Silent SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_024690.2 -1 validated p.T13473 0.000 453 0.7% 618 34.3% 3 66.6% - - - HMMSmart_SM00200,superfamily_SEA domain ZNF442 79973 genome.wustl.edu 37 19 12460636 12460636 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_030824.2 -1 validated p.R588Q 0.000 269 0.7% 423 39.5% 2 50% benign(0.023) tolerated(0.73) neutral(0.003) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 RFX1 5989 genome.wustl.edu 37 19 14076300 14076300 + Silent SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_002918.4 -1 validated p.H724 0.055 210 0% 261 14.2% 11 0% - - - NULL ZNF333 84449 genome.wustl.edu 37 19 14829567 14829567 + Missense_Mutation SNP G G T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_032433.2 +1 validated p.K476N 1.000 137 0% 181 35.9% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF57667 EMR2 30817 genome.wustl.edu 37 19 14862336 14862336 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_013447.2 -1 reviewed p.L646F 0.000 149 0% 146 30.8% 1 0% benign(0.052) tolerated(0.26) neutral(0.037) HMMPfam_7tm_2 SYDE1 85360 genome.wustl.edu 37 19 15223273 15223273 + Silent SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_033025.4 +1 provisional p.R565 0.997 63 0% 68 33.8% 24 0% - - - HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP NOTCH3 4854 genome.wustl.edu 37 19 15276271 15276271 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_000435.2 -1 reviewed p.T1908M 0.989 94 2.1% 107 31.8% 246 12.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat BRD4 23476 genome.wustl.edu 37 19 15349732 15349732 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_058243.2 -1 reviewed p.R1281Q 1.000 22 0% 11 45.5% 39 41% probably_damaging(0.998) - - NULL AP1M1 8907 genome.wustl.edu 37 19 16318899 16318899 + Silent SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001130524.1 +1 reviewed p.L113 1.000 196 0% 174 43.7% 45 15.5% - - - superfamily_Longin_like ARHGAP33 115703 genome.wustl.edu 37 19 36269430 36269430 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_052948.3 +1 reviewed p.R112Q 0.994 106 0% 98 13.3% 2 0% benign(0.166) tolerated(0.09) neutral(0.311) superfamily_PX ZNF570 148268 genome.wustl.edu 37 19 37975632 37975632 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_144694.1 +1 provisional p.R370C 0.748 187 0% 219 33.8% 2 0% probably_damaging(0.997) tolerated(0.19) deleterious(0.516) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF607 84775 genome.wustl.edu 37 19 38189094 38189094 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_032689.4 -1 validated p.M646I 0.004 212 0% 272 34.9% 2 50% benign(0.002) tolerated(0.17) neutral(0.059) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers HNRNPUL1 11100 genome.wustl.edu 37 19 41808765 41808765 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_007040.3 +1 reviewed p.R628H 1.000 56 0% 55 38.2% 86 24.4% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL ZNF816 125893 genome.wustl.edu 37 19 53454681 53454681 + Missense_Mutation SNP T T C novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001031665.1 -1 validated p.Q116R 0.008 382 0% 460 18.3% 5 20% probably_damaging(0.999) tolerated(0.31) deleterious(0.517) NULL TMC4 147798 genome.wustl.edu 37 19 54675821 54675821 + Silent SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001145303.1 -1 validated p.L43 0.987 76 0% 65 29.2% 12 41.6% - - - NULL HSPBP1 23640 genome.wustl.edu 37 19 55777607 55777607 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001130106.1 -1 validated p.D230N 1.000 41 0% 25 60% 61 24.5% possibly_damaging(0.716) tolerated(0.09) deleterious(0.555) superfamily_ARM repeat ZSCAN18 65982 genome.wustl.edu 37 19 58619251 58619251 + RNA SNP A A G novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NR_027135.1 -1 validated NULL 0.000 46 0% 57 24.6% 0 - - - - - NINL 22981 genome.wustl.edu 37 20 25472135 25472135 + Missense_Mutation SNP C C A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_025176.4 -1 validated p.R446M 0.026 49 0% 45 40% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SNTA1 6640 genome.wustl.edu 37 20 31998073 31998073 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_003098.2 -1 reviewed p.R369C 1.000 35 0% 25 44% 11 45.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like RBPJL 11317 genome.wustl.edu 37 20 43936838 43936838 + Missense_Mutation SNP G G T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_014276.2 +1 reviewed p.E26D 1.000 122 0% 116 37.9% 0 - possibly_damaging(0.643) tolerated(0.24) neutral(0.263) NULL BMP7 655 genome.wustl.edu 37 20 55748340 55748340 + Silent SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 ENST00000433911 -1 known p.R276C 0.995 125 0% 160 37.5% 1 0% - - - HMMPfam_TGF_beta,HMMSmart_SM00204,PatternScan_TGF_BETA_1,superfamily_Cystine-knot cytokines MIR124-3 406909 genome.wustl.edu 37 20 61809921 61809921 + RNA SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 ENST00000384866 +1 known NULL 1.000 11 0% 18 33.3% 0 - - - - - USP25 29761 genome.wustl.edu 37 21 17236657 17236657 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_013396.3 +1 validated p.R803H 1.000 234 0% 257 33.9% 18 5.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL APP 351 genome.wustl.edu 37 21 27372418 27372418 + Missense_Mutation SNP C C G novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_000484.3 -1 reviewed p.K315N 1.000 116 0% 107 29.9% 587 26.5% unknown(0) deleterious(0.02) - HMMPfam_Kunitz_BPTI,HMMSmart_SM00131,superfamily_BPTI-like ITSN1 6453 genome.wustl.edu 37 21 35138239 35138239 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_003024.2 +1 reviewed p.M283I 1.000 183 0% 249 32.9% 9 11.1% unknown(0) deleterious(0) - HMMSmart_SM00027,HMMSmart_SM00054,HMMPfam_efhand,superfamily_EF-hand PCBP3 54039 genome.wustl.edu 37 21 47316228 47316228 + Silent SNP A A G novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_020528.2 +1 reviewed p.E39 1.000 123 0% 146 41.8% 3 0% - - - NULL MYH9 4627 genome.wustl.edu 37 22 36681937 36681937 + Silent SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_002473.4 -1 reviewed p.D1708 0.696 85 0% 63 42.9% 532 11.8% - - - HMMPfam_Myosin_tail_1 SREBF2 6721 genome.wustl.edu 37 22 42289188 42289188 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_004599.2 +1 reviewed p.R759H 1.000 136 0% 103 18.4% 39 12.8% possibly_damaging(0.807) tolerated(0.07) deleterious(0.623) NULL ENSG00000211459 0 genome.wustl.edu 37 MT 709 709 + RNA SNP G G C novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 ENST00000389680 +1 known NULL NULL 1011 0% 443 74.5% 3263 80.7% - - - - IL3RA 3563 genome.wustl.edu 37 X 1471355 1471355 + Missense_Mutation SNP T T C novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_002183.2 +1 reviewed p.F191S 0.000 386 0% 347 32.6% 32 0% benign(0.001) tolerated(0.42) neutral(0.014) superfamily_FN_III-like ASMTL 8623 genome.wustl.edu 37 X 1540581 1540581 + Silent SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_004192.3 -1 reviewed p.A405 0.011 462 0.2% 577 35.7% 36 16.6% - - - HMMPfam_Methyltransf_2,superfamily_S-adenosyl-L-methionine-dependent methyltransferases MXRA5 25878 genome.wustl.edu 37 X 3239694 3239694 + Silent SNP A A G novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_015419.3 -1 reviewed p.T1344 0.000 300 0% 423 35.5% 15 6.6% - - - NULL MXRA5 25878 genome.wustl.edu 37 X 3242913 3242913 + Missense_Mutation SNP C C A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_015419.3 -1 reviewed p.K271N 0.758 253 0.4% 279 30.8% 7 0% possibly_damaging(0.919) tolerated(0.08) deleterious(0.669) HMMSmart_SM00082,superfamily_L domain-like NLGN4X 57502 genome.wustl.edu 37 X 5821640 5821640 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_020742.2 -1 reviewed p.G360D 1.000 208 0.5% 183 40.4% 0 - possibly_damaging(0.844) tolerated(0.16) neutral(0.383) HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases GEMIN8 54960 genome.wustl.edu 37 X 14027101 14027101 + Silent SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001042479.1 -1 reviewed p.Q220 1.000 76 0% 94 33% 25 0% - - - NULL CA5B 11238 genome.wustl.edu 37 X 15800723 15800723 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_007220.3 +1 reviewed p.R297Q 0.127 217 0.5% 224 35.3% 4 25% benign(0.003) tolerated(0.6) neutral(0.004) NULL CASK 8573 genome.wustl.edu 37 X 41390295 41390295 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_003688.3 -1 reviewed p.Q824* 1.000 271 0% 311 36.3% 17 23.5% - - - HMMPfam_Guanylate_kin,HMMSmart_GuKc,superfamily_SSF52540 UBA1 7317 genome.wustl.edu 37 X 47062426 47062426 + Missense_Mutation SNP A A G novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_003334.3 +1 reviewed p.T440A 1.000 230 0% 200 33.5% 133 11.2% benign(0.004) tolerated(0.32) neutral(0.024) NULL CDK16 5127 genome.wustl.edu 37 X 47085615 47085615 + Silent SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 ENST00000428400 +1 known p.V348 0.002 139 0% 96 37.5% 4 0% - - - NULL ZNF41 7592 genome.wustl.edu 37 X 47315702 47315702 + Silent SNP T T C novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_007130.2 -1 reviewed p.T56 0.970 215 0% 240 42.5% 6 0% - - - HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) WDR45 11152 genome.wustl.edu 37 X 48934103 48934103 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_007075.3 -1 reviewed p.R142Q 1.000 429 0.2% 486 35.8% 76 0% probably_damaging(1) tolerated(0.3) deleterious(0.528) superfamily_WD40_like GPKOW 27238 genome.wustl.edu 37 X 48973985 48973985 + Missense_Mutation SNP A A G novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_015698.4 -1 validated p.V249A 0.028 137 0% 95 29.5% 19 0% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_KOW,HMMSmart_KOW TRO 7216 genome.wustl.edu 37 X 54957331 54957331 + Missense_Mutation SNP A A T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001039705.1 +1 reviewed p.T1392S 0.001 102 0% 127 37% 38 42.1% possibly_damaging(0.891) tolerated(0.06) deleterious(0.673) NULL LAS1L 81887 genome.wustl.edu 37 X 64751259 64751259 + Silent SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_031206.4 -1 validated p.P164 0.999 451 0% 578 32.5% 12 0% - - - HMMPfam_Las1 ACRC 93953 genome.wustl.edu 37 X 70823892 70823892 + Silent SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_052957.4 +1 validated p.P255 0.006 273 0% 239 12.6% 0 - - - - NULL KIAA2022 340533 genome.wustl.edu 37 X 73963292 73963292 + Missense_Mutation SNP G G T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001008537.2 -1 validated p.P367H 0.926 218 0% 259 37.5% 0 - probably_damaging(0.974) deleterious(0.01) deleterious(0.822) NULL PCDH19 57526 genome.wustl.edu 37 X 99661983 99661983 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001105243.1 -1 reviewed p.G538D 0.994 183 0% 219 38.8% 16 93.7% possibly_damaging(0.813) tolerated(0.11) deleterious(0.579) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin NKAP 79576 genome.wustl.edu 37 X 119070294 119070294 + Silent SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_024528.3 -1 reviewed p.S213 0.624 468 0% 656 37% 15 0% - - - NULL CT47B1 643311 genome.wustl.edu 37 X 120008908 120008908 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001145718.1 -1 validated p.A206V 0.000 213 0% 157 31.8% 0 - unknown(0) tolerated(0.2) - NULL BCORL1 63035 genome.wustl.edu 37 X 129148372 129148372 + Missense_Mutation SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_021946.3 +1 reviewed p.D542N 0.053 76 0% 86 41.9% 5 0% benign(0.112) deleterious(0) neutral(0.454) NULL ELF4 2000 genome.wustl.edu 37 X 129208049 129208049 + Silent SNP G G A novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001127197.1 -1 reviewed p.S105 0.000 426 0% 458 33% 9 0% - - - NULL HCFC1 3054 genome.wustl.edu 37 X 153236189 153236189 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_005334.2 -1 reviewed p.G35S 1.000 58 0% 52 38.5% 3 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Kelch_1,superfamily_Galactose oxidase central domain FLNA 2316 genome.wustl.edu 37 X 153581221 153581221 + Missense_Mutation SNP C C T novel TCGA-B5-A11U-01A-11D-A122-09 TCGA-B5-A11U-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55a56538-7ae6-44b8-8eca-2576b9334be2 019d284d-5381-4c5e-a089-5e72c027ef84 NM_001110556.1 -1 reviewed p.G2100R 1.000 171 0% 224 31.7% 453 0.2% possibly_damaging(0.837) deleterious(0.05) deleterious(0.665) HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin