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 COL24A1 255631 genome.wustl.edu 37 1 86282491 86282491 + Missense_Mutation SNP G G T novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_152890.5 -1 validated p.P1311T 0.999 396 0.3% 306 41.8% 1 0% benign(0.016) tolerated(0.1) neutral(0.287) HMMPfam_Collagen CELSR2 1952 genome.wustl.edu 37 1 109793836 109793836 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_001408.2 +1 reviewed p.R379W 0.974 113 0.9% 107 35.5% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin ATXN7L2 127002 genome.wustl.edu 37 1 110031580 110031580 + Missense_Mutation SNP A A C novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_153340.4 +1 validated p.S299R 1.000 38 0% 30 60% 5 40% possibly_damaging(0.916) tolerated(0.34) neutral(0.390) NULL AP4B1 10717 genome.wustl.edu 37 1 114438527 114438527 + Silent SNP C C T novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_006594.2 -1 validated p.P548 0.947 230 0% 179 35.2% 43 37.2% - - - superfamily_ARM-type_fold VPS45 11311 genome.wustl.edu 37 1 150049304 150049304 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_007259.3 +1 reviewed p.V191I 1.000 217 0% 211 23.2% 25 20% benign(0.076) tolerated(0.48) neutral(0.016) HMMPfam_Sec1,superfamily_Sec1/munc18-like (SM) proteins PI4KB 5298 genome.wustl.edu 37 1 151271406 151271406 + Silent SNP G G C novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_002651.1 -1 provisional p.L643 0.946 166 0% 156 30.1% 86 20.9% - - - HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,superfamily_Protein kinase-like (PK-like) SPTA1 6708 genome.wustl.edu 37 1 158631190 158631190 + Missense_Mutation SNP A A C novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_003126.2 -1 reviewed p.L825R 1.000 390 0% 444 25.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SHCBP1L 81626 genome.wustl.edu 37 1 182909541 182909541 + Silent SNP C C T novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_030933.2 -1 validated p.V231 0.995 250 0.4% 265 50.9% 0 - - - - NULL B3GALT2 8707 genome.wustl.edu 37 1 193149790 193149790 + Silent SNP G G A novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_003783.3 -1 reviewed p.D301 0.999 392 0% 380 21.8% 0 - - - - HMMPfam_Galactosyl_T RYR2 6262 genome.wustl.edu 37 1 237829879 237829879 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_001035.2 +1 reviewed p.R2835K 1.000 248 0% 213 29.1% 0 - benign(0.307) - - HMMPfam_RyR VIT 5212 genome.wustl.edu 37 2 37035901 37035901 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_053276.3 +1 validated p.R559Q 1.000 105 0% 120 35.8% 0 - probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300 NPAS2 4862 genome.wustl.edu 37 2 101609882 101609882 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_002518.3 +1 reviewed p.V729I 0.279 39 0% 32 34.4% 39 25.6% benign(0.001) tolerated(0.59) neutral(0.004) NULL SCN9A 6335 genome.wustl.edu 37 2 167055541 167055541 + Missense_Mutation SNP C C A novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_002977.3 -1 reviewed p.A1859S 0.993 344 0% 221 39.8% 0 - benign(0.036) tolerated(0.44) neutral(0.015) NULL TTN 7273 genome.wustl.edu 37 2 179393359 179393359 + Missense_Mutation SNP G G T novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 ENST00000356127 -1 known p.Q33137K 1.000 263 0% 245 38.4% 0 - possibly_damaging(0.448) - - HMMPfam_I-set TNS1 7145 genome.wustl.edu 37 2 218686568 218686568 + Missense_Mutation SNP G G T novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_022648.4 -1 reviewed p.T1052N 0.014 24 0% 37 51.4% 73 0% benign(0.067) deleterious(0.04) neutral(0.353) NULL PTMA 5757 genome.wustl.edu 37 2 232577526 232577539 + Frame_Shift_Del DEL GATACCAAGAAGCA GATACCAAGAAGCA - novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 GATACCAAGAAGCA GATACCAAGAAGCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_001099285.1 +1 validated p.D101fs 0.997:0.999:0.976:0.989:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 - - - - - - - - - HMMPfam_Prothymosin ZFYVE20 64145 genome.wustl.edu 37 3 15124031 15124031 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_022340.2 -1 validated p.R228Q 1.000 168 0.6% 200 38.5% 4 0% probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_FYVE,HMMSmart_FYVE,superfamily_FYVE_PHD_ZnF CTNNB1 1499 genome.wustl.edu 37 3 41266113 41266113 + Missense_Mutation SNP C C T rs121913403 byCluster TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_001098209.1 +1 reviewed p.S37F 1.000 147 0% 84 40.5% 100 22% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DNAH1 25981 genome.wustl.edu 37 3 52398698 52398698 + Silent SNP G G A novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_015512.4 +1 validated p.S1763 0.597 129 0% 126 34.1% 0 - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases PRR23A 729627 genome.wustl.edu 37 3 138724396 138724396 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_001134659.1 -1 validated p.R239C 0.000 81 0% 63 55.6% 0 - unknown(0) tolerated(0.14) - HMMPfam_DUF2476 FAT1 2195 genome.wustl.edu 37 4 187530956 187530956 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_005245.3 -1 reviewed p.T3356M 0.657 228 0% 182 35.2% 15 13.3% benign(0.255) tolerated(0.08) neutral(0.327) HMMPfam_Cadherin,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like AMACR 23600 genome.wustl.edu 37 5 33998866 33998866 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_014324.5 -1 reviewed p.P207S 0.987 245 0.4% 186 36.6% 8 25% benign(0.359) deleterious(0) deleterious(0.558) HMMPfam_CoA_transf_3,superfamily_CoA-transferase family III (CaiB/BaiF) GAPT 202309 genome.wustl.edu 37 5 57790557 57790557 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_152687.2 +1 provisional p.R65H 0.000 180 0% 152 43.4% 1 0% benign(0.002) tolerated(0.57) neutral(0.006) NULL PIK3R1 5295 genome.wustl.edu 37 5 67589588 67589590 + In_Frame_Del DEL GAA GAA - novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_181523.1 +1 reviewed p.E451in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL PIK3R1 5295 genome.wustl.edu 37 5 67589591 67589591 + Missense_Mutation SNP T T C novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_181523.1 +1 reviewed p.Y452H 1.000 251 0% 162 35.2% 37 0% probably_damaging(0.988) tolerated(0.08) deleterious(0.738) NULL PIK3R1 5295 genome.wustl.edu 37 5 67591259 67591261 + In_Frame_Del DEL AAA AAA - novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 AAA AAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_181523.1 +1 reviewed p.K587in_frame_del 1.000:0.945:1.000 - - - - - - - - - NULL ANKRD31 256006 genome.wustl.edu 37 5 74408374 74408375 + Frame_Shift_Ins INS - - AT novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 ENST00000274361 -1 known p.L1345fs 0.024:0.000 - - - - - - - - - NULL ANKRD31 256006 genome.wustl.edu 37 5 74408388 74408388 + Missense_Mutation SNP T T C novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 ENST00000274361 -1 known p.E1341G 1.000 590 0% 471 29.7% 0 - probably_damaging(0.978) deleterious(0) deleterious(0.865) NULL F2RL2 2151 genome.wustl.edu 37 5 75913480 75913480 + Missense_Mutation SNP C C G novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_004101.2 -1 reviewed p.S351T 1.000 427 0% 338 35.5% 1 0% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PCDHA8 56140 genome.wustl.edu 37 5 140222407 140222407 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_018911.2 +1 reviewed p.E501K 1.000 32 0% 29 34.5% 0 - benign(0.425) tolerated(0.26) neutral(0.172) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA8 56140 genome.wustl.edu 37 5 140223137 140223137 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_018911.2 +1 reviewed p.A744V 0.021 78 0% 116 30.2% 0 - possibly_damaging(0.732) tolerated(0.13) deleterious(0.520) NULL CYFIP2 26999 genome.wustl.edu 37 5 156736774 156736774 + Silent SNP C C T novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_001037332.2 +1 validated p.F308 1.000 164 0% 181 36.5% 6 50% - - - HMMPfam_FragX_IP PACSIN1 29993 genome.wustl.edu 37 6 34497235 34497235 + Frame_Shift_Del DEL G G - novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_020804.2 +1 validated p.E174fs 1.000 - - - - - - - - - NULL NT5E 4907 genome.wustl.edu 37 6 86200337 86200337 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_002526.2 +1 validated p.R441H 0.925 105 0% 107 41.1% 41 17% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_5_nucleotid_C,superfamily_5apos-Nucleotdase_C DCBLD1 285761 genome.wustl.edu 37 6 117862090 117862090 + Nonsense_Mutation SNP C C G novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_173674.1 +1 provisional p.S420* 0.930 168 0% 203 57.1% 3 66.6% - - - NULL PDE10A 10846 genome.wustl.edu 37 6 165862455 165862455 + Silent SNP G G A novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_001130690.1 -1 validated p.A119 1.000 381 0% 319 56.1% 0 - - - - HMMPfam_GAF,HMMSmart_GAF,superfamily_SSF55781 MMD2 221938 genome.wustl.edu 37 7 4949408 4949408 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 ENST00000406755 -1 known p.A180V 0.001 23 0% 26 38.5% 0 - benign(0) tolerated(0.2) neutral(0.049) HMMPfam_HlyIII EMID2 136227 genome.wustl.edu 37 7 101188667 101188667 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 ENST00000397927 +1 known p.R251H 1.000 35 0% 25 40% 0 - probably_damaging(0.998) tolerated(0.07) deleterious(0.793) HMMPfam_Collagen NPBWR1 2831 genome.wustl.edu 37 8 53852713 53852713 + Silent SNP C C T novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_005285.3 +1 validated p.A82 0.949 33 0% 58 37.9% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 LRRC69 100130742 genome.wustl.edu 37 8 92212965 92212965 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_001129890.1 +1 provisional p.G293E 0.781 456 0% 350 32.9% 0 - probably_damaging(0.994) tolerated(1) neutral(0.452) NULL FZD6 8323 genome.wustl.edu 37 8 104337272 104337272 + Missense_Mutation SNP G G T novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_003506.3 +1 reviewed p.R313I 1.000 486 0% 407 37.1% 14 21.4% probably_damaging(0.983) tolerated(0.27) neutral(0.463) HMMPfam_Frizzled CNTFR 1271 genome.wustl.edu 37 9 34557952 34557952 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 ENST00000351266 -1 known p.R117H 1.000 173 0% 126 33.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Fibronectin type III KIAA1217 56243 genome.wustl.edu 37 10 24762699 24762699 + Silent SNP G G A rs140749126 by1000genomes TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_019590.3 +1 validated p.L463 1.000 61 0% 56 35.7% 12 0% - - - NULL MAP3K8 1326 genome.wustl.edu 37 10 30728035 30728035 + Silent SNP C C T novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_005204.2 +1 reviewed p.N56 0.121 186 0% 204 50% 20 45% - - - NULL TACR2 6865 genome.wustl.edu 37 10 71164742 71164742 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_001057.2 -1 validated p.T346M 0.000 327 0.3% 354 30.2% 11 0% benign(0.001) tolerated(0.12) neutral(0.261) NULL SAMD8 142891 genome.wustl.edu 37 10 76924477 76924479 + In_Frame_Del DEL TTC TTC - novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_144660.2 +1 validated p.L221in_frame_del 1.000:0.982:1.000 - - - - - - - - - NULL SORCS3 22986 genome.wustl.edu 37 10 107022089 107022089 + Missense_Mutation SNP G G T novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_014978.1 +1 reviewed p.R1148S 1.000 185 0% 211 29.9% 0 - possibly_damaging(0.865) deleterious(0) deleterious(0.780) NULL GPR26 2849 genome.wustl.edu 37 10 125426295 125426295 + Silent SNP G G A novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_153442.3 +1 validated p.A124 0.998 7 0.000 9 0.778 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 EBF3 253738 genome.wustl.edu 37 10 131665496 131665496 + Silent SNP C C G novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_001005463.1 -1 validated p.P307 0.919 218 0% 251 25.1% 1 0% - - - HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains E2F8 79733 genome.wustl.edu 37 11 19251391 19251391 + Silent SNP G G A novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_024680.2 -1 validated p.P501 1.000 148 0% 125 48% 2 100% - - - NULL OR5AS1 219447 genome.wustl.edu 37 11 55798480 55798480 + Missense_Mutation SNP C C G novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_001001921.1 +1 provisional p.Q196E 0.343 488 0% 345 34.5% 0 - benign(0) tolerated(1) - HMMPfam_7tm_1,superfamily_SSF81321 RPS6KB2 6199 genome.wustl.edu 37 11 67201701 67201701 + Silent SNP C C T rs55850698 TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_003952.2 +1 reviewed p.D334 0.062 132 0% 136 32.4% 88 38.6% - - - HMMSmart_S_TK_X,superfamily_Kinase_like TECTA 7007 genome.wustl.edu 37 11 121016604 121016604 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_005422.2 +1 reviewed p.S1295F 1.000 58 0% 75 28% 1 0% benign(0.235) tolerated(0.44) neutral(0.036) HMMPfam_C8 ITPR2 3709 genome.wustl.edu 37 12 26714873 26714873 + Missense_Mutation SNP C C A novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_002223.2 -1 validated p.G1548V 0.941 132 0% 104 35.6% 2 50% possibly_damaging(0.649) deleterious(0.01) deleterious(0.634) NULL OR10A7 121364 genome.wustl.edu 37 12 55615173 55615173 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_001005280.1 +1 provisional p.R122H 1.000 415 0.2% 299 36.1% 0 - possibly_damaging(0.797) deleterious(0) deleterious(0.744) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 SARNP 84324 genome.wustl.edu 37 12 56197481 56197481 + Missense_Mutation SNP C C A novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_033082.3 -1 reviewed p.R23L 1.000 367 0% 284 33.1% 116 38.7% benign(0.073) deleterious(0) neutral(0.450) HMMPfam_SAP,HMMSmart_SM00513,superfamily_SAP domain MON2 23041 genome.wustl.edu 37 12 62943446 62943446 + Splice_Site SNP A A T novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_015026.2 +1 validated e23-2 1.000 362 0% 262 38.2% 0 - - - - - PTPRB 5787 genome.wustl.edu 37 12 70928295 70928295 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_001109754.1 -1 reviewed p.G2114D 0.054 92 0% 83 36.1% 27 0% benign(0.001) tolerated(0.25) neutral(0.037) HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II MIR619 693204 genome.wustl.edu 37 12 109230781 109230781 + RNA SNP C C T novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 ENST00000384890 -1 known NULL 0.053 26 0% 24 45.8% 0 - - - - - SETD1B 23067 genome.wustl.edu 37 12 122268086 122268086 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_015048.1 +1 validated p.E1905K 1.000 102 0% 64 35.9% 17 41.1% unknown(0) - - HMMPfam_SET,HMMSmart_SET,superfamily_SSF82199 TMEM132B 114795 genome.wustl.edu 37 12 125834404 125834404 + Silent SNP G G A novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_052907.2 +1 provisional p.T153 0.000 154 0.6% 113 33.6% 0 - - - - NULL RNF17 56163 genome.wustl.edu 37 13 25444818 25444818 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_031277.2 +1 reviewed p.A1463V 0.765 376 0% 276 44.6% 0 - benign(0.02) tolerated(0.48) neutral(0.011) HMMPfam_TUDOR MYCBP2 23077 genome.wustl.edu 37 13 77743789 77743789 + Missense_Mutation SNP A A G novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_015057.4 -1 validated p.I1914T 1.000 260 0% 148 35.1% 2 50% probably_damaging(0.959) tolerated(0.3) neutral(0.431) NULL GPC5 2262 genome.wustl.edu 37 13 92797173 92797173 + Missense_Mutation SNP T T G novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_004466.4 +1 reviewed p.C498G 1.000 531 0% 388 34.8% 0 - possibly_damaging(0.832) tolerated(0.3) neutral(0.346) HMMPfam_Glypican MIR543 100126335 genome.wustl.edu 37 14 101498326 101498326 + RNA SNP C C T novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 ENST00000390751 +1 known NULL 0.993 478 0% 406 40.4% 0 - - - - - NTHL1 4913 genome.wustl.edu 37 16 2093596 2093602 + Frame_Shift_Del DEL AGCCATA AGCCATA - novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 AGCCATA AGCCATA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_002528.5 -1 reviewed p.M226fs 0.457:0.975:1.000:1.000:1.000:1.000:0.989 - - - - - - - - - HMMPfam_HhH-GPD,HMMSmart_ENDO3c,PatternScan_ENDONUCLEASE_III_2,superfamily_DNA_glycsylse ZNF174 7727 genome.wustl.edu 37 16 3458725 3458725 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_003450.2 +1 validated p.H344Y 1.000 143 0% 114 39.5% 10 10% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SLX4 84464 genome.wustl.edu 37 16 3633501 3633501 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_032444.2 -1 provisional p.R1584C 1.000 37 0% 49 40.8% 6 50% unknown(0) deleterious(0) - NULL GRIN2A 2903 genome.wustl.edu 37 16 9858337 9858337 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_000833.3 -1 reviewed p.R1022C 1.000 140 0% 117 36.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_NMDAR2_C ARMC5 79798 genome.wustl.edu 37 16 31473964 31473964 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_001105247.1 +1 validated p.R366W 0.998 144 0% 115 36.5% 15 20% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMSmart_SM00185,superfamily_ARM repeat YWHAE 7531 genome.wustl.edu 37 17 1303460 1303460 + RNA SNP G G A novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NR_024058.1 -1 reviewed NULL 1.000 30 0% 37 40.5% 130 32.3% - - - - PRPF8 10594 genome.wustl.edu 37 17 1559852 1559854 + In_Frame_Del DEL AAG AAG - novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_006445.3 -1 reviewed p.HL1875in_frame_delQ 1.000:1.000:1.000 - - - - - - - - - NULL PITPNM3 83394 genome.wustl.edu 37 17 6371605 6371605 + Silent SNP T T C novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_031220.3 -1 reviewed p.A610 0.000 78 0% 69 30.4% 2 50% - - - NULL ALOXE3 59344 genome.wustl.edu 37 17 8007447 8007447 + Missense_Mutation SNP C C G novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_021628.2 -1 reviewed p.V591L 0.994 136 0% 206 40.8% 0 - benign(0.334) tolerated(0.07) neutral(0.424) HMMPfam_Lipoxygenase,superfamily_Lipoxygenase ARHGEF15 22899 genome.wustl.edu 37 17 8215700 8215700 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_173728.2 +1 reviewed p.R115W 0.477 103 0% 103 35.9% 11 0% probably_damaging(0.982) deleterious(0.03) deleterious(0.791) NULL SPOP 8405 genome.wustl.edu 37 17 47679362 47679362 + Missense_Mutation SNP A A C novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_001007226.1 -1 reviewed p.L282R 1.000 135 0% 107 32.7% 34 20.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB SPOP 8405 genome.wustl.edu 37 17 47699332 47699332 + Nonsense_Mutation SNP G G T novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_001007226.1 -1 reviewed p.S59* 1.000 208 0% 190 38.4% 23 4.3% - - - HMMPfam_MATH,HMMSmart_SM00061,superfamily_TRAF domain-like EME1 146956 genome.wustl.edu 37 17 48456818 48456818 + Silent SNP G G A novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 ENST00000510246 +1 known p.G224S 1.000 155 0% 126 38.1% 9 77.7% - - - HMMPfam_ERCC4 DLGAP1 9229 genome.wustl.edu 37 18 3879682 3879682 + Silent SNP C C T novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_004746.2 -1 provisional p.E129 1.000 15 0% 24 45.8% 0 - - - - NULL SOGA2 23255 genome.wustl.edu 37 18 8720381 8720381 + Missense_Mutation SNP G G T novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_015210.3 +1 predicted p.V82L 1.000 162 0% 94 35.1% 0 - possibly_damaging(0.653) deleterious(0.05) deleterious(0.575) NULL DCC 1630 genome.wustl.edu 37 18 50994264 50994264 + Missense_Mutation SNP G G T novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_005215.3 +1 reviewed p.G1207V 1.000 221 0% 124 33.9% 0 - benign(0.194) deleterious(0.01) neutral(0.424) HMMPfam_Neogenin_C PIAS4 51588 genome.wustl.edu 37 19 4013221 4013221 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_015897.2 +1 provisional p.V110M 0.992 30 0% 35 31.4% 17 58.8% benign(0.001) tolerated(0.21) neutral(0.044) NULL ENSG00000182315 0 genome.wustl.edu 37 19 7056547 7056547 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 ENST00000333843 -1 known p.P138L 0.000 154 0% 184 13.6% 0 - benign(0) tolerated(0.05) neutral(0.345) NULL ZNF607 84775 genome.wustl.edu 37 19 38189791 38189796 + In_Frame_Del DEL ATATTT ATATTT - novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 ATATTT ATATTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_032689.4 -1 validated p.QNI412in_frame_delH 0.898:0.894:0.902:0.922:0.926:0.925 - - - - - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers WDR87 83889 genome.wustl.edu 37 19 38385359 38385359 + Nonsense_Mutation SNP G G C novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_031951.3 -1 provisional p.Y289* 0.000 50 0% 36 44.4% 0 - - - - superfamily_WD40 repeat-like EPN1 29924 genome.wustl.edu 37 19 56190212 56190212 + Silent SNP C C T novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_001130071.1 +1 validated p.H184 0.990 88 0% 62 38.7% 151 31.7% - - - HMMPfam_ENTH,superfamily_ENTH/VHS domain,HMMSmart_SM00273 SERINC3 10955 genome.wustl.edu 37 20 43141461 43141461 + Missense_Mutation SNP G G C novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_006811.2 -1 validated p.R126G 0.984 437 0% 355 29.3% 38 5.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Serinc CBR1 873 genome.wustl.edu 37 21 37444822 37444822 + Missense_Mutation SNP G G A rs146559297 by1000genomes TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_001757.2 +1 reviewed p.R159H 0.996 123 0% 79 36.7% 35 0% benign(0.005) tolerated(0.42) neutral(0.014) superfamily_NAD(P)-binding Rossmann-fold domains PPIL2 23759 genome.wustl.edu 37 22 22043055 22043055 + Silent SNP C C T novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_148176.2 +1 reviewed p.D352 0.931 65 0% 68 10.3% 33 12.1% - - - HMMPfam_Pro_isomerase,superfamily_CSA_PPIase ENSG00000198888 0 genome.wustl.edu 37 MT 3380 3380 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 ENST00000361390 +1 known p.R25Q NULL 3 0.000 29 0.793 8036 53.2% probably_damaging(0.973) deleterious(0) deleterious(0.859) HMMPfam_NADHdh GPR143 4935 genome.wustl.edu 37 X 9728836 9728836 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_000273.2 -1 reviewed p.G114E 0.041 196 0% 155 38.7% 1 0% possibly_damaging(0.847) tolerated(0.36) neutral(0.345) HMMPfam_Ocular_alb FAM47A 158724 genome.wustl.edu 37 X 34148801 34148801 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_203408.3 -1 validated p.P532L 0.001 90 2.2% 99 28.3% 0 - possibly_damaging(0.877) deleterious(0.01) deleterious(0.747) NULL BCOR 54880 genome.wustl.edu 37 X 39921444 39921444 + Missense_Mutation SNP T T C novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_001123385.1 -1 reviewed p.N1459S 1.000 158 0% 160 44.4% 13 61.5% probably_damaging(0.985) deleterious(0) deleterious(0.877) superfamily_Ankyrin repeat MED12 9968 genome.wustl.edu 37 X 70346290 70346290 + Nonsense_Mutation SNP G G T novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_005120.2 +1 reviewed p.E881* 1.000 367 0% 335 40.6% 18 0% - - - NULL POU3F4 5456 genome.wustl.edu 37 X 82763622 82763622 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_000307.3 +1 reviewed p.R97H 1.000 28 0% 35 42.9% 0 - benign(0.009) tolerated(0.07) neutral(0.320) NULL ZNF449 203523 genome.wustl.edu 37 X 134494252 134494252 + Nonsense_Mutation SNP G G T novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_152695.5 +1 reviewed p.E270* 0.785 23 0% 31 35.5% 1 0% - - - NULL SLITRK2 84631 genome.wustl.edu 37 X 144904103 144904103 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 NM_001144003.2 +1 reviewed p.V54I 0.999 289 0% 230 34.3% 0 - benign(0.003) tolerated(0.91) - HMMSmart_SM00013,superfamily_L domain-like PRRG3 79057 genome.wustl.edu 37 X 150868655 150868655 + Silent SNP G G T novel TCGA-D1-A0ZQ-01A-11D-A122-09 TCGA-D1-A0ZQ-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34479976-356f-4209-9650-4aeae7d70bda 2a46bea9-1217-4a4e-af75-46af91e351f0 ENST00000370354 +1 known p.L73 0.017 56 0% 52 34.6% 0 - - - - NULL