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 ARID1A 8289 genome.wustl.edu 37 1 27087892 27087901 + Frame_Shift_Del DEL CGGCCACCCA CGGCCACCCA - novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 CGGCCACCCA CGGCCACCCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_006015.4 +1 reviewed p.R727fs 1.000:1.000:1.000:1.000:1.000:0.539:0.995:1.000:1.000:1.000 - - - - - - - - - NULL ARID1A 8289 genome.wustl.edu 37 1 27107195 27107195 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_006015.4 +1 reviewed p.S2269* 1.000 48 0% 82 45.1% 59 54.2% - - - NULL COL11A1 1301 genome.wustl.edu 37 1 103343607 103343607 + Missense_Mutation SNP A A T novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_080629.2 -1 reviewed p.F1809I 1.000 365 0% 266 23.7% 1 0% unknown(0) deleterious(0.01) - HMMPfam_COLFI,HMMSmart_COLFI GNAT2 2780 genome.wustl.edu 37 1 110151400 110151400 + Missense_Mutation SNP C C T novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_005272.3 -1 reviewed p.R105Q 0.979 172 0% 176 43.8% 0 - benign(0.001) tolerated(0.44) neutral(0.013) HMMPfam_G-alpha,superfamily_Transducin (alpha subunit) insertion domain,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases CD1C 911 genome.wustl.edu 37 1 158259914 158259914 + Silent SNP C C T novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_001765.2 +1 reviewed p.D20 0.000 275 0.4% 271 41% 0 - - - - NULL KCNJ9 3765 genome.wustl.edu 37 1 160054217 160054217 + Missense_Mutation SNP C C T novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_004983.2 +1 reviewed p.P133S 1.000 11 0% 22 72.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_IRK,superfamily_SSF81324 ARHGAP30 257106 genome.wustl.edu 37 1 161018920 161018920 + Missense_Mutation SNP C C T novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_001025598.1 -1 validated p.G631R 0.007 297 0% 334 44.3% 5 60% benign(0.195) deleterious(0) neutral(0.463) NULL TNR 7143 genome.wustl.edu 37 1 175299224 175299224 + Missense_Mutation SNP T T C novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_003285.2 -1 validated p.Y1260C 1.000 92 0% 100 33% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Fibrinogen_C,HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like RYR2 6262 genome.wustl.edu 37 1 237813288 237813288 + Missense_Mutation SNP G G A novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_001035.2 +1 reviewed p.A2542T 1.000 393 0% 379 39.3% 0 - benign(0.007) - - NULL NLRP3 114548 genome.wustl.edu 37 1 247587215 247587215 + Missense_Mutation SNP G G A novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_001079821.2 +1 reviewed p.R157H 0.965 131 0% 154 48.1% 0 - probably_damaging(1) tolerated(0.06) deleterious(0.823) NULL GALNT14 79623 genome.wustl.edu 37 2 31135133 31135133 + Missense_Mutation SNP C C T novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_024572.2 -1 validated p.A486T 0.861 95 0% 89 37.1% 4 25% benign(0.001) tolerated(0.21) neutral(0.044) HMMPfam_Ricin_B_lectin,HMMSmart_SM00458,superfamily_Ricin B-like lectins DYSF 8291 genome.wustl.edu 37 2 71801334 71801335 + In_Frame_Ins INS - - AGGCGG novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_001130987.1 +1 reviewed p.1083in_frame_insEA 1.000:1.000 - - - - - - - - - NULL YSK4 80122 genome.wustl.edu 37 2 135745784 135745784 + Missense_Mutation SNP C C A novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_025052.3 -1 validated p.G220C 0.000 23 0% 23 47.8% 1 0% benign(0.104) tolerated(0.42) neutral(0.022) NULL MBD5 55777 genome.wustl.edu 37 2 149225933 149225933 + Missense_Mutation SNP C C T novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_018328.4 +1 reviewed p.R141W 1.000 86 0% 69 39.1% 0 - unknown(0) deleterious(0.01) - NULL JAGN1 84522 genome.wustl.edu 37 3 9932418 9932418 + Silent SNP A A G novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_032492.3 +1 validated p.R4 1.000 14 0% 25 44% 42 40.4% - - - HMMPfam_DUF1352 NUP210 23225 genome.wustl.edu 37 3 13421147 13421147 + Missense_Mutation SNP G G A novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_024923.2 -1 reviewed p.R298W 0.025 64 0% 72 12.5% 2 0% benign(0.001) deleterious(0.02) neutral(0.383) NULL CTNNB1 1499 genome.wustl.edu 37 3 41266113 41266113 + Missense_Mutation SNP C C G rs121913403 byCluster TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_001098209.1 +1 reviewed p.S37C 1.000 170 0% 103 31.1% 38 23.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL COL7A1 1294 genome.wustl.edu 37 3 48612668 48612668 + Missense_Mutation SNP C C T novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_000094.3 -1 reviewed p.R2063Q 0.736 270 0% 271 41% 4 50% possibly_damaging(0.939) tolerated(0.31) neutral(0.412) HMMPfam_Collagen GTF2E1 2960 genome.wustl.edu 37 3 120489624 120489624 + Silent SNP A A T novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_005513.2 +1 validated p.S166 1.000 266 0% 229 45% 2 50% - - - HMMPfam_TFIIE_alpha,HMMSmart_TFIIE PIK3CA 5290 genome.wustl.edu 37 3 178916876 178916876 + Missense_Mutation SNP G G A rs121913287 TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_006218.2 +1 reviewed p.R88Q 1.000 254 0% 137 42.3% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_PI3K_p85B,HMMSmart_PI3K_p85B PIK3CA 5290 genome.wustl.edu 37 3 178947827 178947827 + Missense_Mutation SNP G G T novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_006218.2 +1 reviewed p.C901F 1.000 397 0.3% 368 43.2% 12 58.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PI3_PI4_kinase,HMMSmart_PI3Kc,superfamily_Kinase_like,PatternScan_PI3_4_KINASE_2 BMP2K 55589 genome.wustl.edu 37 4 79747214 79747214 + Missense_Mutation SNP G G C novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_198892.1 +1 reviewed p.V68L 1.000 388 0% 272 33.8% 0 - possibly_damaging(0.887) deleterious(0.04) deleterious(0.696) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase AFF1 4299 genome.wustl.edu 37 4 87968591 87968591 + Missense_Mutation SNP C C T novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_005935.2 +1 validated p.R295W 1.000 71 0% 58 34.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AF-4 GPR98 84059 genome.wustl.edu 37 5 89972002 89972002 + Missense_Mutation SNP G G C novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_032119.3 +1 reviewed p.E1807Q 1.000 314 0% 162 19.8% 0 - probably_damaging(0.982) tolerated(0.53) neutral(0.434) HMMPfam_Calx-beta,HMMSmart_SM00237 PCDHA7 56141 genome.wustl.edu 37 5 140215503 140215503 + Missense_Mutation SNP C C T novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_018910.2 +1 reviewed p.A512V 1.000 34 0% 95 43.2% 0 - possibly_damaging(0.546) deleterious(0) deleterious(0.630) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like STK38 11329 genome.wustl.edu 37 6 36485601 36485601 + Missense_Mutation SNP G G C novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_007271.2 -1 provisional p.A136G 1.000 327 0% 206 24.8% 7 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase NCR2 9436 genome.wustl.edu 37 6 41309565 41309565 + Missense_Mutation SNP G G A novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_004828.3 +1 validated p.R143H 0.000 84 0% 97 48.5% 0 - probably_damaging(0.988) tolerated(0.12) deleterious(0.698) NULL ABCB4 5244 genome.wustl.edu 37 7 87043015 87043015 + Missense_Mutation SNP C C T novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_018849.2 -1 reviewed p.E901K 1.000 365 0% 273 45.4% 0 - benign(0.059) tolerated(0.1) neutral(0.290) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain PLXNA4 91584 genome.wustl.edu 37 7 131844254 131844254 + Silent SNP G G A novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_020911.1 -1 validated p.P1546 0.998 266 0% 307 46.9% 0 - - - - superfamily_GTPase activation domain GAP,HMMPfam_Plexin_cytopl INTS10 55174 genome.wustl.edu 37 8 19687976 19687976 + Silent SNP A A G novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_018142.2 +1 validated p.K400 0.999 304 0% 241 13.7% 25 8% - - - NULL CSPP1 79848 genome.wustl.edu 37 8 67976657 67976657 + Silent SNP C C G novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_001077204.1 +1 validated p.A8 0.000 47 0% 69 33.3% 1 100% - - - NULL ZFHX4 79776 genome.wustl.edu 37 8 77765626 77765626 + Missense_Mutation SNP G G A novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_024721.4 +1 validated p.E2112K 1.000 128 0% 83 10.8% 0 - possibly_damaging(0.891) - - HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like LOC100288108 100288108 genome.wustl.edu 37 8 140631275 140631275 + Missense_Mutation SNP G G T novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 XM_002342878.1 +1 model p.A340S 1.000 91 0% 112 33% 0 - - - - NULL CPSF1 29894 genome.wustl.edu 37 8 145619714 145619714 + Silent SNP C C T novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_013291.2 -1 validated p.T1208 0.648 36 0% 44 59.1% 138 52.1% - - - HMMPfam_CPSF_A CEP78 84131 genome.wustl.edu 37 9 80879180 80879180 + Missense_Mutation SNP G G A novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_001098802.1 +1 validated p.E526K 1.000 458 0% 375 15.7% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LAMC3 10319 genome.wustl.edu 37 9 133952631 133952631 + Silent SNP G G A novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_006059.3 +1 reviewed p.L1229 0.001 40 0% 67 34.3% 24 0% - - - NULL DBH 1621 genome.wustl.edu 37 9 136501721 136501721 + Silent SNP C C G novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_000787.3 +1 reviewed p.L76 0.590 50 2% 79 40.5% 0 - - - - HMMSmart_DoH,HMMPfam_DOMON GTPBP4 23560 genome.wustl.edu 37 10 1053063 1053063 + Missense_Mutation SNP G G A novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_012341.2 +1 reviewed p.D370N 1.000 146 0% 275 31.6% 31 32.2% benign(0.001) tolerated(0.31) neutral(0.027) NULL PTEN 5728 genome.wustl.edu 37 10 89692904 89692904 + Missense_Mutation SNP C C G rs121909224 byCluster TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 ENST00000371953 +1 known p.R130G 1.000 451 0% 538 29.2% 24 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DSPc,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II PTEN 5728 genome.wustl.edu 37 10 89720799 89720802 + Frame_Shift_Del DEL TACT TACT - novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 TACT TACT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 ENST00000371953 +1 known p.T319fs 1.000:1.000:1.000:1.000 - - - - - - - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 PPP2R2D 55844 genome.wustl.edu 37 10 133747979 133747979 + Missense_Mutation SNP G G A novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 ENST00000455566 +1 known p.V9I 1.000 396 0% 501 56.3% 2 100% benign(0.181) tolerated(0.64) neutral(0.019) superfamily_WD40 repeat-like OSBPL5 114879 genome.wustl.edu 37 11 3114179 3114179 + Missense_Mutation SNP G G A novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_020896.3 -1 reviewed p.R684W 0.721 35 0% 36 44.4% 16 18.7% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Oxysterol_BP MRGPRX1 259249 genome.wustl.edu 37 11 18956097 18956097 + Missense_Mutation SNP G G A novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_147199.3 -1 provisional p.R79C 0.000 103 1% 155 46.5% 0 - possibly_damaging(0.64) tolerated(0.08) deleterious(0.524) HMMPfam_7tm_1,superfamily_SSF81321 ACCSL 390110 genome.wustl.edu 37 11 44069983 44069983 + Missense_Mutation SNP C C T novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_001031854.2 +1 validated p.R133C 0.000 95 0% 94 53.2% 0 - benign(0.044) tolerated(0.29) neutral(0.032) superfamily_PLP-dependent transferases FAT3 120114 genome.wustl.edu 37 11 92543010 92543010 + Silent SNP C C T novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_001008781.2 +1 validated p.G3083 0.691 297 0% 240 45% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like ATM 472 genome.wustl.edu 37 11 108098419 108098419 + Missense_Mutation SNP G G A novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_000051.3 +1 reviewed p.R23Q 1.000 395 0% 270 37.8% 1 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL LEPREL2 10536 genome.wustl.edu 37 12 6938023 6938024 + Frame_Shift_Ins INS - - G rs112583020 byCluster;by1000genomes TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 ENST00000290510 +1 known p.R141fs 1.000:1.000 - - - - - - - - - NULL KLRF1 51348 genome.wustl.edu 37 12 9985921 9985921 + Silent SNP A A G novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_016523.1 +1 provisional p.K69 0.986 478 0.2% 319 42.3% 0 - - - - NULL NCKAP5L 57701 genome.wustl.edu 37 12 50190090 50190090 + Missense_Mutation SNP C C A novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_001037806.3 -1 validated p.G518V 0.694 23 0% 28 50% 17 58.8% probably_damaging(0.961) deleterious(0.01) deleterious(0.810) NULL BEST3 144453 genome.wustl.edu 37 12 70087467 70087467 + Silent SNP G G A novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_032735.2 -1 validated p.H156 0.858 170 0% 120 47.5% 1 0% - - - HMMPfam_Bestrophin SPATA13 221178 genome.wustl.edu 37 13 24798500 24798500 + Missense_Mutation SNP A A G novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 ENST00000360220 +1 known p.Q478R 0.999 196 0% 164 33.5% 1 0% benign(0.016) deleterious(0) neutral(0.445) NULL BRCA2 675 genome.wustl.edu 37 13 32954181 32954181 + Missense_Mutation SNP G G A rs80359171 TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_000059.3 +1 reviewed p.R3052Q 1.000 275 0.7% 198 43.4% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_BRCA-2_OB3,superfamily_Nucleic_acid_OB CSNK1A1L 122011 genome.wustl.edu 37 13 37678767 37678767 + Silent SNP G G A novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_145203.5 -1 validated p.Y209 0.999 341 0% 410 40.7% 0 - - - - superfamily_Kinase_like,HMMPfam_Pkinase NID2 22795 genome.wustl.edu 37 14 52494047 52494047 + Missense_Mutation SNP G G A novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_007361.3 -1 validated p.A849V 0.992 29 0% 35 51.4% 3 0% benign(0.002) tolerated(0.33) neutral(0.024) NULL SAMD4A 23034 genome.wustl.edu 37 14 55215577 55215577 + Missense_Mutation SNP G G A novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_015589.4 +1 validated p.A341T 0.998 236 0.4% 223 44.4% 1 0% benign(0.146) tolerated(0.4) neutral(0.029) HMMPfam_SAM_1,HMMSmart_SM00454,superfamily_SAM/Pointed domain GOLGA6L6 727832 genome.wustl.edu 37 15 20739744 20739744 + Missense_Mutation SNP G G A rs28626390 TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_001145004.1 -1 inferred p.T669M 0.137 102 0% 120 15% 0 - unknown(0) tolerated(0.2) - NULL AKAP13 11214 genome.wustl.edu 37 15 86123809 86123809 + Frame_Shift_Del DEL C C - novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_006738.4 +1 reviewed p.T837fs 0.000 - - - - - - - - - NULL SPATA20 64847 genome.wustl.edu 37 17 48625308 48625319 + Splice_Site DEL GGGGAGGGGCCT GGGGAGGGGCCT - novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 GGGGAGGGGCCT GGGGAGGGGCCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 ENST00000505085 +1 known e3-1 0.017:0.930:0.996:1.000:0.998:0.997:0.997:0.993:0.978:0.966:0.032:0.000 - - - - - - - - - - GPR142 350383 genome.wustl.edu 37 17 72368116 72368116 + Missense_Mutation SNP C C T novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_181790.1 +1 provisional p.R256C 1.000 26 0% 52 44.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 ACTN4 81 genome.wustl.edu 37 19 39191270 39191270 + Missense_Mutation SNP C C T novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_004924.3 +1 reviewed p.R65W 1.000 123 0% 132 44.7% 102 45% probably_damaging(1) deleterious(0.05) deleterious(0.845) HMMPfam_CH,HMMSmart_CH,superfamily_Calponin-homology LGALS4 3960 genome.wustl.edu 37 19 39292478 39292478 + Missense_Mutation SNP G G A novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_006149.3 -1 reviewed p.R300C 0.997 100 0% 112 18.8% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Gal-bind_lectin,HMMSmart_SM00276,superfamily_Concanavalin A-like lectins/glucanases NLRP11 204801 genome.wustl.edu 37 19 56329276 56329276 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_145007.3 -1 validated p.R89* 0.000 215 0.5% 181 48.1% 0 - - - - superfamily_DEATH domain SSTR4 6754 genome.wustl.edu 37 20 23016948 23016948 + Silent SNP C C T novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_001052.2 +1 validated p.Y276 0.976 480 0.2% 556 43.5% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 MIR185 406961 genome.wustl.edu 37 22 20020669 20020669 + RNA SNP G G T novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 ENST00000385288 +1 known NULL 1.000 56 1.8% 70 37.1% 0 - - - - - MGAT3 4248 genome.wustl.edu 37 22 39884718 39884718 + Missense_Mutation SNP C C T novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_001098270.1 +1 reviewed p.R456C 1.000 29 3.4% 60 40% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_transf_17 ENSG00000210082 0 genome.wustl.edu 37 MT 2702 2702 + RNA SNP G G A novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 ENST00000387347 +1 known NULL NULL 36 0% 148 11.5% 7997 9.3% - - - - FAM47A 158724 genome.wustl.edu 37 X 34149571 34149571 + Silent SNP G G A novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_203408.3 -1 validated p.D275 0.450 58 0% 81 18.5% 0 - - - - NULL PFKFB1 5207 genome.wustl.edu 37 X 54960314 54960314 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_002625.2 -1 reviewed p.C432* 1.000 201 0% 177 34.5% 0 - - - - superfamily_SSF53254 DCAF12L1 139170 genome.wustl.edu 37 X 125685920 125685920 + Silent SNP C C T novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_178470.4 -1 reviewed p.P224 0.028 29 0% 51 21.6% 0 - - - - superfamily_WD40_like MIR105-1 406897 genome.wustl.edu 37 X 151560719 151560719 + RNA SNP C C T novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 ENST00000385222 -1 known NULL 0.999 150 0% 150 44.7% 0 - - - - - OPN1LW 5956 genome.wustl.edu 37 X 153420214 153420214 + Silent SNP G G A novel TCGA-D1-A17T-01A-11D-A12J-09 TCGA-D1-A17T-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1239e34-ce80-4abc-bacf-ff597850dfb8 26875010-99ae-4efa-9b9e-f878c533a887 NM_020061.4 +1 reviewed p.A248 0.877 293 0% 423 26.7% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321