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 ABL2 27 genome.wustl.edu 37 1 179077029 179077029 + Missense_Mutation SNP C C A novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_007314.3 -1 reviewed p.D1125Y 1.000 107 0% 152 44.1% 4 25% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_F_actin_bind,HMMSmart_SM00808 RAB3GAP2 25782 genome.wustl.edu 37 1 220363468 220363468 + Missense_Mutation SNP G G C novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_012414.3 -1 reviewed p.A551G 1.000 177 0% 490 44.3% 19 47.3% probably_damaging(0.997) deleterious(0.02) deleterious(0.849) NULL WDR26 80232 genome.wustl.edu 37 1 224581651 224581651 + Silent SNP T T A novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 ENST00000480676 -1 known p.T247S 0.969 113 0% 232 41.8% 93 47.3% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 RYR2 6262 genome.wustl.edu 37 1 237604646 237604646 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_001035.2 +1 reviewed p.E345* 1.000 185 0% 457 16.6% 0 - - - - HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMSmart_SM00472 DNAH6 1768 genome.wustl.edu 37 2 84838934 84838934 + Missense_Mutation SNP A A G novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_001370.1 +1 validated p.K1144R 1.000 31 0% 97 43.3% 3 0% benign(0.184) tolerated(0.85) neutral(0.018) HMMPfam_DHC_N2 NFE2L2 4780 genome.wustl.edu 37 2 178098945 178098945 + Missense_Mutation SNP G G C novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_006164.3 -1 validated p.R34G 1.000 174 0% 337 49.6% 52 61.5% unknown(0) deleterious(0) - NULL ORMDL1 94101 genome.wustl.edu 37 2 190647321 190647321 + Missense_Mutation SNP T T C novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_001128150.1 -1 validated p.M1V 1.000 262 0% 164 53.7% 56 62.5% benign(0) deleterious(0) neutral(0.445) NULL ZFAND2B 130617 genome.wustl.edu 37 2 220072619 220072619 + Missense_Mutation SNP A A G novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_138802.1 +1 provisional p.N98S 1.000 150 0% 95 16.8% 36 27.7% possibly_damaging(0.946) deleterious(0.05) deleterious(0.736) NULL CNTN6 27255 genome.wustl.edu 37 3 1424760 1424760 + Missense_Mutation SNP C C A novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_014461.2 +1 reviewed p.S767R 1.000 361 0% 345 10.7% 0 - possibly_damaging(0.472) deleterious(0) deleterious(0.601) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like ZNF385D 79750 genome.wustl.edu 37 3 21792405 21792405 + Missense_Mutation SNP T T C novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_024697.2 -1 validated p.R2G 1.000 129 0% 70 25.7% 0 - probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL CTNNB1 1499 genome.wustl.edu 37 3 41266101 41266101 + Missense_Mutation SNP C C A rs121913400 byCluster TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_001098209.1 +1 reviewed p.S33Y 1.000 86 0% 122 13.9% 184 8.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PTPN23 25930 genome.wustl.edu 37 3 47452297 47452297 + Missense_Mutation SNP G G C novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_015466.2 +1 validated p.Q1003H 0.972 55 0% 25 24% 14 28.5% benign(0.253) tolerated(0.15) neutral(0.267) NULL UBA5 79876 genome.wustl.edu 37 3 132379394 132379394 + Missense_Mutation SNP G G C novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_024818.3 +1 reviewed p.V5L 0.952 60 0% 23 34.8% 7 57.1% possibly_damaging(0.84) tolerated(0.23) neutral(0.363) NULL PCOLCE2 26577 genome.wustl.edu 37 3 142567144 142567144 + Missense_Mutation SNP C C G novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_013363.3 -1 validated p.K121N 1.000 72 0% 77 32.5% 1 100% possibly_damaging(0.76) tolerated(0.05) deleterious(0.627) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,PatternScan_ABC_TRANSPORTER_1 PIK3CA 5290 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G rs121913279 byCluster TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_006218.2 +1 reviewed p.H1047R 1.000 88 0% 194 36.6% 10 70% possibly_damaging(0.926) deleterious(0.03) deleterious(0.739) HMMSmart_PI3Kc,superfamily_Kinase_like UGT2B10 7365 genome.wustl.edu 37 4 69696394 69696394 + Missense_Mutation SNP T T A novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_001075.4 +1 validated p.W462R 1.000 156 0% 398 34.9% 9 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase ARHGAP10 79658 genome.wustl.edu 37 4 148968114 148968114 + Missense_Mutation SNP G G A novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_024605.3 +1 validated p.V647M 0.654 206 0% 193 25.9% 7 57.1% benign(0) tolerated(0.14) neutral(0.249) NULL FAT1 2195 genome.wustl.edu 37 4 187522511 187522511 + Missense_Mutation SNP A A G novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_005245.3 -1 reviewed p.L3851S 0.823 284 0% 287 13.2% 38 5.2% benign(0.313) tolerated(0.41) neutral(0.113) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases PCDHGA5 56110 genome.wustl.edu 37 5 140746124 140746124 + Missense_Mutation SNP G G A novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_018918.2 +1 reviewed p.V743M 0.538 293 0% 169 31.4% 0 - benign(0.019) tolerated(0.09) neutral(0.297) NULL PCDHGA12 26025 genome.wustl.edu 37 5 140812105 140812105 + Silent SNP G G A novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_003735.2 +1 reviewed p.A593 0.031 112 0% 56 26.8% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like AKAP9 10142 genome.wustl.edu 37 7 91712761 91712761 + Frame_Shift_Del DEL C C - novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_005751.4 +1 reviewed p.S2814fs 0.716 - - - - - - - - - NULL UNC5D 137970 genome.wustl.edu 37 8 35624453 35624453 + Missense_Mutation SNP C C T novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_080872.2 +1 validated p.R783W 1.000 78 1.3% 143 16.1% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL GRHL2 79977 genome.wustl.edu 37 8 102644594 102644594 + Splice_Site SNP G G T novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_024915.3 +1 reviewed e11+1 1.000 65 0% 175 57.7% 2 100% - - - - BAI1 575 genome.wustl.edu 37 8 143558888 143558888 + Missense_Mutation SNP C C A novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_001702.2 +1 reviewed p.F455L 1.000 231 0% 104 13.5% 0 - benign(0.152) tolerated(0.79) neutral(0.014) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat C9orf66 157983 genome.wustl.edu 37 9 215060 215060 + Missense_Mutation SNP G G T rs141134256 by1000genomes TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_152569.2 -1 validated p.R113S 0.098 1 0.000 5 1.000 0 - unknown(0) - - NULL CYLC2 1539 genome.wustl.edu 37 9 105767017 105767017 + Missense_Mutation SNP C C A rs188765977 by1000genomes TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_001340.3 +1 reviewed p.P74Q 0.942 226 0% 246 32.5% 0 - probably_damaging(1) tolerated(0.13) deleterious(0.752) NULL ENSG00000228637 0 genome.wustl.edu 37 10 42396342 42396343 + RNA INS - - A rs71240314 TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 ENST00000439345 -1 novel NULL 0.000:0.000 - - - - - - - - - - ARID5B 84159 genome.wustl.edu 37 10 63829471 63829471 + Missense_Mutation SNP C C T novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_032199.2 +1 validated p.R372C 1.000 67 0% 168 19% 14 21.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ARID,HMMSmart_SM00501,superfamily_ARID-like ZMIZ1 57178 genome.wustl.edu 37 10 81063871 81063871 + Missense_Mutation SNP G G T novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_020338.3 +1 validated p.C742F 1.000 108 0% 77 20.8% 60 23.3% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_zf-MIZ,superfamily_RING/U-box PTEN 5728 genome.wustl.edu 37 10 89720799 89720802 + Frame_Shift_Del DEL TACT TACT - novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 TACT TACT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 ENST00000371953 +1 known p.T319fs 1.000:1.000:1.000:1.000 - - - - - - - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 FGFR2 2263 genome.wustl.edu 37 10 123279677 123279677 + Missense_Mutation SNP G G C rs79184941 byCluster TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_022970.3 -1 reviewed p.S252W 1.000 102 0% 135 17% 91 10.9% probably_damaging(0.963) tolerated(0.07) deleterious(0.725) NULL BRMS1 25855 genome.wustl.edu 37 11 66108730 66108730 + Missense_Mutation SNP G G A novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_001024957.1 -1 reviewed p.T102M 0.149 71 0% 30 26.7% 71 30.9% possibly_damaging(0.944) tolerated(0.07) deleterious(0.708) HMMPfam_Sds3 ENSG00000204455 0 genome.wustl.edu 37 11 89595740 89595740 + Silent SNP C C T novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 ENST00000311917 +1 known p.H357 0.001 1286 0.1% 954 26.2% 0 - - - - HMMPfam_SPRY SCARNA9 619383 genome.wustl.edu 37 11 93454832 93454835 + RNA DEL GTGT GTGT - rs143635317 by1000genomes TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 GTGT GTGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NR_002569.1 +1 provisional NULL 0.007:0.008:0.006:0.000 - - - - - - - - - - PTPN6 5777 genome.wustl.edu 37 12 7069296 7069296 + Missense_Mutation SNP G G A novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_080549.3 +1 reviewed p.R492Q 1.000 113 0% 61 29.5% 76 35.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II MLL2 8085 genome.wustl.edu 37 12 49425664 49425665 + Frame_Shift_Ins INS - - A novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_003482.3 -1 validated p.Q4275fs 1.000:0.998 - - - - - - - - - NULL KRT83 3889 genome.wustl.edu 37 12 52708455 52708455 + Missense_Mutation SNP G G A novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_002282.3 -1 reviewed p.T481I 0.933 66 0% 19 21.1% 0 - benign(0.001) tolerated(0.16) neutral(0.059) NULL UBE2N 7334 genome.wustl.edu 37 12 93805013 93805013 + Missense_Mutation SNP G G T novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_003348.3 -1 reviewed p.N31K 1.000 72 0% 115 29.6% 85 49.4% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_UQ_con,HMMSmart_SM00212,superfamily_UBC-like C12orf51 283450 genome.wustl.edu 37 12 112600888 112600888 + Missense_Mutation SNP G G A novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_001109662.2 -1 validated p.P3938S 1.000 150 0% 48 25% 19 31.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain MYH7 4625 genome.wustl.edu 37 14 23885349 23885349 + Missense_Mutation SNP C C T novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_000257.2 -1 reviewed p.R1606H 0.977 572 0% 370 33.8% 0 - benign(0.041) deleterious(0) neutral(0.447) HMMPfam_Myosin_tail_1 DUOX1 53905 genome.wustl.edu 37 15 45437188 45437188 + Silent SNP G G A novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_017434.3 +1 reviewed p.E744 0.997 235 0% 166 11.4% 2 0% - - - NULL IGDCC3 9543 genome.wustl.edu 37 15 65623975 65623975 + Missense_Mutation SNP C C T novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_004884.3 -1 validated p.G391S 1.000 91 0% 49 16.3% 0 - benign(0) tolerated(0.9) - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin TMED3 23423 genome.wustl.edu 37 15 79614432 79614432 + Missense_Mutation SNP G G A novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_007364.2 +1 validated p.S177N 0.040 118 0% 107 28% 161 32.9% benign(0.051) tolerated(0.07) neutral(0.322) HMMPfam_EMP24_GP25L CHD2 1106 genome.wustl.edu 37 15 93567735 93567735 + Missense_Mutation SNP C C T novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_001271.3 +1 reviewed p.R1763C 1.000 290 0.3% 253 43.1% 26 53.8% probably_damaging(0.995) deleterious(0.02) deleterious(0.841) NULL DNAH3 55567 genome.wustl.edu 37 16 21011750 21011750 + Missense_Mutation SNP C C T novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_017539.1 -1 provisional p.V2073M 1.000 443 0.2% 597 12.2% 5 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases DPEP1 1800 genome.wustl.edu 37 16 89696827 89696827 + Silent SNP C C T novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_001128141.1 +1 validated p.S3 0.103 144 0% 68 17.6% 6 0% - - - NULL TMEM107 84314 genome.wustl.edu 37 17 8079527 8079527 + Silent SNP G G A novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_032354.3 -1 validated p.F26 1.000 147 0% 96 36.5% 31 48.3% - - - NULL LRRC37B 114659 genome.wustl.edu 37 17 30349423 30349423 + Missense_Mutation SNP G G T novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_052888.2 +1 validated p.D420Y 0.000 298 0% 178 34.3% 11 63.6% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL KRT36 8689 genome.wustl.edu 37 17 39643383 39643383 + Missense_Mutation SNP G G A novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_003771.4 -1 reviewed p.R343C 0.994 220 0% 109 14.7% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Filament VAPA 9218 genome.wustl.edu 37 18 9950399 9950399 + Missense_Mutation SNP T T C novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_003574.5 +1 reviewed p.M187T 0.977 166 0% 150 16.7% 186 9.1% benign(0.001) tolerated(0.35) neutral(0.021) NULL CALR3 125972 genome.wustl.edu 37 19 16606600 16606600 + Missense_Mutation SNP G G A novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_145046.3 -1 validated p.S52L 1.000 392 0.3% 267 34.8% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_Calreticulin,superfamily_ConA_like_lec_gl HNRNPUL1 11100 genome.wustl.edu 37 19 41808777 41808777 + Missense_Mutation SNP G G A novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_007040.3 +1 reviewed p.R632Q 1.000 98 1% 63 42.9% 115 40.8% unknown(0) deleterious(0.02) - NULL NUCB1 4924 genome.wustl.edu 37 19 49422495 49422495 + Silent SNP C C T novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 ENST00000424608 +1 known p.S288L 0.007 139 0% 148 36.5% 211 51.6% - - - superfamily_EF-hand CDH4 1002 genome.wustl.edu 37 20 60427926 60427926 + Silent SNP C C T novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_001794.2 +1 reviewed p.N283 1.000 225 0% 195 23.6% 0 - - - - HMMPfam_Cadherin,superfamily_Cadherin OPRL1 4987 genome.wustl.edu 37 20 62730031 62730031 + Missense_Mutation SNP G G A novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_000913.3 +1 reviewed p.R331H 0.998 150 0.7% 94 26.6% 0 - benign(0.095) deleterious(0) neutral(0.452) superfamily_Family A G protein-coupled receptor-like PRDM15 63977 genome.wustl.edu 37 21 43236112 43236112 + Missense_Mutation SNP G G A novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_022115.3 -1 validated p.R1147C 1.000 230 0% 74 36.5% 3 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 UMODL1 89766 genome.wustl.edu 37 21 43542987 43542987 + Frame_Shift_Del DEL T T - novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_173568.3 +1 validated p.L1087fs 0.000 - - - - - - - - - NULL ENSG00000211459 0 genome.wustl.edu 37 MT 1134 1134 + RNA SNP G G A novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 ENST00000389680 +1 known NULL NULL 14 0% 14 92.9% 908 76.9% - - - - ENSG00000210117 0 genome.wustl.edu 37 MT 5560 5560 + RNA SNP G G A novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 ENST00000387382 +1 novel NULL NULL 998 0% 1277 11.9% 1 0% - - - - DCAF8L2 347442 genome.wustl.edu 37 X 27766140 27766140 + Silent SNP C C T novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_001136533.1 +1 provisional p.P376 0.839 387 0% 388 37.1% 0 - - - - HMMSmart_SM00320,superfamily_WD40 repeat-like FTHL17 53940 genome.wustl.edu 37 X 31089933 31089933 + Silent SNP G G A novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_031894.2 -1 reviewed p.D46 0.601 222 0% 95 36.8% 0 - - - - HMMPfam_Ferritin,superfamily_Ferritin/RR_like CACNA1F 778 genome.wustl.edu 37 X 49074246 49074246 + Silent SNP C C T novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_005183.2 -1 reviewed p.T1030 0.805 493 0% 375 34.7% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels PPP1R3F 89801 genome.wustl.edu 37 X 49157909 49157909 + Missense_Mutation SNP A A C novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 ENST00000471261 +1 known p.N158H 0.001 139 0% 140 34.3% 1 100% unknown(0) - - NULL IQSEC2 23096 genome.wustl.edu 37 X 53270998 53270998 + Missense_Mutation SNP G G A novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_001111125.1 -1 validated p.R995W 1.000 166 0% 114 43% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_PH,superfamily_SSF50729 RHOXF2 84528 genome.wustl.edu 37 X 119293082 119293082 + Missense_Mutation SNP G G A novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_032498.1 +1 provisional p.G81S 0.000 459 0.2% 224 22.8% 0 - possibly_damaging(0.903) tolerated(0.09) deleterious(0.654) NULL ARHGAP36 158763 genome.wustl.edu 37 X 130220356 130220356 + Silent SNP G G A novel TCGA-B5-A0JT-01A-21D-A122-09 TCGA-B5-A0JT-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 449d63bc-39b9-4f39-b1d8-7dcc4a684884 58aba04d-ef64-4bfc-9c9f-792c7d121bf3 NM_144967.3 +1 validated p.P445 0.978 294 0% 155 34.2% 0 - - - - NULL