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 DHDDS 79947 genome.wustl.edu 37 1 26774103 26774103 + Missense_Mutation SNP C C T novel TCGA-BK-A0CC-01A-21W-A027-09 TCGA-BK-A0CC-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbecc159-21ec-44b5-9d09-80bcbd7a8617 42da56c4-e4d6-477a-920e-f2dc7abfdcb2 NM_024887.2 +1 validated p.A165V 1.000 63 0% 119 25.2% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Prenyltransf,superfamily_Undecaprenyl diphosphate synthase NSUN4 387338 genome.wustl.edu 37 1 46806527 46806527 + Missense_Mutation SNP G G T novel TCGA-BK-A0CC-01A-21W-A027-09 TCGA-BK-A0CC-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbecc159-21ec-44b5-9d09-80bcbd7a8617 42da56c4-e4d6-477a-920e-f2dc7abfdcb2 NM_199044.2 +1 validated p.R10L 0.002 6 0.000 18 0.444 - - possibly_damaging(0.659) tolerated(0.05) deleterious(0.578) NULL SMG5 23381 genome.wustl.edu 37 1 156222849 156222849 + Silent SNP C C T novel TCGA-BK-A0CC-01A-21W-A027-09 TCGA-BK-A0CC-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbecc159-21ec-44b5-9d09-80bcbd7a8617 42da56c4-e4d6-477a-920e-f2dc7abfdcb2 NM_015327.2 -1 validated p.E841 1.000 8 0.000 10 0.700 - - - - - NULL OR2T33 391195 genome.wustl.edu 37 1 248436221 248436221 + Missense_Mutation SNP A A T novel TCGA-BK-A0CC-01A-21W-A027-09 TCGA-BK-A0CC-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbecc159-21ec-44b5-9d09-80bcbd7a8617 42da56c4-e4d6-477a-920e-f2dc7abfdcb2 NM_001004695.1 -1 provisional p.L299Q 0.000 449 0% 638 13.5% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Family A G protein-coupled receptor-like NRXN1 9378 genome.wustl.edu 37 2 51254689 51254689 + Silent SNP G G T novel TCGA-BK-A0CC-01A-21W-A027-09 TCGA-BK-A0CC-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbecc159-21ec-44b5-9d09-80bcbd7a8617 42da56c4-e4d6-477a-920e-f2dc7abfdcb2 NM_001135659.1 -1 reviewed p.A241 0.954 7 0.000 9 0.444 - - - - - HMMSmart_EGF,superfamily_ConA_like_lec_gl NKIRAS1 28512 genome.wustl.edu 37 3 23934682 23934682 + Silent SNP G G A novel TCGA-BK-A0CC-01A-21W-A027-09 TCGA-BK-A0CC-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbecc159-21ec-44b5-9d09-80bcbd7a8617 42da56c4-e4d6-477a-920e-f2dc7abfdcb2 NM_020345.3 -1 validated p.F161 1.000 265 0% 457 22.5% - - - - - superfamily_SSF52540 AMOTL2 51421 genome.wustl.edu 37 3 134079157 134079159 + In_Frame_Del DEL CTG CTG - novel TCGA-BK-A0CC-01A-21W-A027-09 TCGA-BK-A0CC-10A-01W-A027-09 CTG CTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbecc159-21ec-44b5-9d09-80bcbd7a8617 42da56c4-e4d6-477a-920e-f2dc7abfdcb2 NM_016201.2 -1 reviewed p.Q558in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL MMRN1 22915 genome.wustl.edu 37 4 90872815 90872815 + Silent SNP A A C novel TCGA-BK-A0CC-01A-21W-A027-09 TCGA-BK-A0CC-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbecc159-21ec-44b5-9d09-80bcbd7a8617 42da56c4-e4d6-477a-920e-f2dc7abfdcb2 NM_007351.2 +1 reviewed p.R1060 0.055 147 0% 183 27.9% - - - - - PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,superfamily_EGF/Laminin FAT4 79633 genome.wustl.edu 37 4 126389666 126389666 + Splice_Site SNP G G C novel TCGA-BK-A0CC-01A-21W-A027-09 TCGA-BK-A0CC-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbecc159-21ec-44b5-9d09-80bcbd7a8617 42da56c4-e4d6-477a-920e-f2dc7abfdcb2 NM_024582.4 +1 validated e11-1 1.000 92 0% 105 31.4% - - - - - - FAT1 2195 genome.wustl.edu 37 4 187630042 187630042 + Nonsense_Mutation SNP C C A novel TCGA-BK-A0CC-01A-21W-A027-09 TCGA-BK-A0CC-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbecc159-21ec-44b5-9d09-80bcbd7a8617 42da56c4-e4d6-477a-920e-f2dc7abfdcb2 NM_005245.3 -1 reviewed p.E314* 1.000 297 0% 262 64.1% - - - - - HMMSmart_SM00112,superfamily_Cadherin-like DIAPH1 1729 genome.wustl.edu 37 5 140953313 140953350 + Frame_Shift_Del DEL GGGGAATTCCAGCACTCCCAGGCAAAGGAGGTGGTGGT GGGGAATTCCAGCACTCCCAGGCAAAGGAGGTGGTGGT - novel TCGA-BK-A0CC-01A-21W-A027-09 TCGA-BK-A0CC-10A-01W-A027-09 GGGGAATTCCAGCACTCCCAGGCAAAGGAGGTGGTGGT GGGGAATTCCAGCACTCCCAGGCAAAGGAGGTGGTGGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbecc159-21ec-44b5-9d09-80bcbd7a8617 42da56c4-e4d6-477a-920e-f2dc7abfdcb2 NM_005219.4 -1 reviewed p.P691fs 1.000:0.616:0.625:0.317:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.007:0.998:1.000:0.998:1.000:1.000:0.998:1.000:1.000:0.452:0.996:0.996:0.662:1.000:0.999:0.000:1.000:1.000:0.992:1.000:1.000:0.930 - - - - - - - - - HMMPfam_Drf_FH1 LRRC16A 55604 genome.wustl.edu 37 6 25606322 25606322 + Missense_Mutation SNP G G A novel TCGA-BK-A0CC-01A-21W-A027-09 TCGA-BK-A0CC-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbecc159-21ec-44b5-9d09-80bcbd7a8617 42da56c4-e4d6-477a-920e-f2dc7abfdcb2 NM_017640.5 +1 validated p.R1178H 1.000 68 0% 103 41.7% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ZNF292 23036 genome.wustl.edu 37 6 87968075 87968075 + Silent SNP A A G novel TCGA-BK-A0CC-01A-21W-A027-09 TCGA-BK-A0CC-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbecc159-21ec-44b5-9d09-80bcbd7a8617 42da56c4-e4d6-477a-920e-f2dc7abfdcb2 NM_015021.1 +1 validated p.L1576 0.990 78 0% 196 36.7% - - - - - NULL EPHA7 2045 genome.wustl.edu 37 6 94066535 94066535 + Missense_Mutation SNP G G C rs145928664 by1000genomes TCGA-BK-A0CC-01A-21W-A027-09 TCGA-BK-A0CC-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbecc159-21ec-44b5-9d09-80bcbd7a8617 42da56c4-e4d6-477a-920e-f2dc7abfdcb2 NM_004440.3 -1 reviewed p.H408Q 0.908 82 0% 140 15% - - probably_damaging(0.964) deleterious(0) deleterious(0.851) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III TSPYL1 7259 genome.wustl.edu 37 6 116600417 116600417 + Missense_Mutation SNP C C T novel TCGA-BK-A0CC-01A-21W-A027-09 TCGA-BK-A0CC-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbecc159-21ec-44b5-9d09-80bcbd7a8617 42da56c4-e4d6-477a-920e-f2dc7abfdcb2 NM_003309.3 -1 reviewed p.E193K 0.616 66 0% 76 17.1% - - benign(0.352) tolerated(0.23) neutral(0.153) NULL SLC22A2 6582 genome.wustl.edu 37 6 160664701 160664701 + Silent SNP G G T novel TCGA-BK-A0CC-01A-21W-A027-09 TCGA-BK-A0CC-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbecc159-21ec-44b5-9d09-80bcbd7a8617 42da56c4-e4d6-477a-920e-f2dc7abfdcb2 NM_003058.2 -1 reviewed p.I394 1.000 99 0% 197 17.8% - - - - - PatternScan_SUGAR_TRANSPORT_1,superfamily_MFS general substrate transporter GPR31 2853 genome.wustl.edu 37 6 167570471 167570471 + Silent SNP G G A novel TCGA-BK-A0CC-01A-21W-A027-09 TCGA-BK-A0CC-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbecc159-21ec-44b5-9d09-80bcbd7a8617 42da56c4-e4d6-477a-920e-f2dc7abfdcb2 NM_005299.2 -1 validated p.C283 1.000 100 0% 98 29.6% - - - - - superfamily_SSF81321 DNAH11 8701 genome.wustl.edu 37 7 21641117 21641117 + Missense_Mutation SNP C C G novel TCGA-BK-A0CC-01A-21W-A027-09 TCGA-BK-A0CC-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbecc159-21ec-44b5-9d09-80bcbd7a8617 42da56c4-e4d6-477a-920e-f2dc7abfdcb2 NM_003777.3 +1 reviewed p.L1177V 1.000 231 0% 348 25% - - benign(0.01) tolerated(0.59) neutral(0.005) NULL TAX1BP1 8887 genome.wustl.edu 37 7 27805500 27805500 + Missense_Mutation SNP G G A novel TCGA-BK-A0CC-01A-21W-A027-09 TCGA-BK-A0CC-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbecc159-21ec-44b5-9d09-80bcbd7a8617 42da56c4-e4d6-477a-920e-f2dc7abfdcb2 NM_006024.5 +1 validated p.V105I 1.000 108 0% 155 45.8% - - probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_CALCOCO1 VKORC1L1 154807 genome.wustl.edu 37 7 65419354 65419356 + In_Frame_Del DEL TTA TTA - novel TCGA-BK-A0CC-01A-21W-A027-09 TCGA-BK-A0CC-10A-01W-A027-09 TTA TTA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbecc159-21ec-44b5-9d09-80bcbd7a8617 42da56c4-e4d6-477a-920e-f2dc7abfdcb2 ENST00000434382 +1 known p.I167in_frame_del 0.999:0.999:0.932 - - - - - - - - - NULL ASB10 136371 genome.wustl.edu 37 7 150884266 150884267 + Frame_Shift_Ins INS - - AG novel TCGA-BK-A0CC-01A-21W-A027-09 TCGA-BK-A0CC-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbecc159-21ec-44b5-9d09-80bcbd7a8617 42da56c4-e4d6-477a-920e-f2dc7abfdcb2 NM_001142459.1 -1 reviewed p.P30fs 0.000:0.003 - - - - - - - - - NULL DLC1 10395 genome.wustl.edu 37 8 12943378 12943378 + Missense_Mutation SNP T T G novel TCGA-BK-A0CC-01A-21W-A027-09 TCGA-BK-A0CC-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbecc159-21ec-44b5-9d09-80bcbd7a8617 42da56c4-e4d6-477a-920e-f2dc7abfdcb2 NM_182643.2 -1 reviewed p.K1510T 1.000 124 0% 175 25.1% - - benign(0.001) deleterious(0.01) neutral(0.406) HMMPfam_START,HMMSmart_SM00234,superfamily_Bet v1-like ATP6V0D2 245972 genome.wustl.edu 37 8 87162505 87162505 + Silent SNP G G A novel TCGA-BK-A0CC-01A-21W-A027-09 TCGA-BK-A0CC-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbecc159-21ec-44b5-9d09-80bcbd7a8617 42da56c4-e4d6-477a-920e-f2dc7abfdcb2 NM_152565.1 +1 validated p.A268 0.003 255 0% 491 58.9% - - - - - HMMPfam_vATP-synt_AC39,superfamily_ATPase_V0/A0_c/d NFX1 4799 genome.wustl.edu 37 9 33354178 33354178 + Missense_Mutation SNP C C G novel TCGA-BK-A0CC-01A-21W-A027-09 TCGA-BK-A0CC-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbecc159-21ec-44b5-9d09-80bcbd7a8617 42da56c4-e4d6-477a-920e-f2dc7abfdcb2 NM_002504.3 +1 reviewed p.Q942E 0.998 102 0% 124 21% - - benign(0.005) tolerated(0.33) neutral(0.024) NULL LRRC18 474354 genome.wustl.edu 37 10 50122110 50122110 + Missense_Mutation SNP G G A novel TCGA-BK-A0CC-01A-21W-A027-09 TCGA-BK-A0CC-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbecc159-21ec-44b5-9d09-80bcbd7a8617 42da56c4-e4d6-477a-920e-f2dc7abfdcb2 NM_001006939.3 -1 validated p.R31C 0.993 75 0% 80 61.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Outer arm dynein light chain 1 PCDH15 65217 genome.wustl.edu 37 10 55698707 55698707 + Missense_Mutation SNP C C G novel TCGA-BK-A0CC-01A-21W-A027-09 TCGA-BK-A0CC-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbecc159-21ec-44b5-9d09-80bcbd7a8617 42da56c4-e4d6-477a-920e-f2dc7abfdcb2 NM_001142763.1 -1 reviewed p.G1086R 1.000 132 0% 180 30.6% - - benign(0.097) tolerated(0.35) neutral(0.028) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like VCL 7414 genome.wustl.edu 37 10 75874037 75874037 + Silent SNP C C T novel TCGA-BK-A0CC-01A-21W-A027-09 TCGA-BK-A0CC-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbecc159-21ec-44b5-9d09-80bcbd7a8617 42da56c4-e4d6-477a-920e-f2dc7abfdcb2 NM_014000.2 +1 reviewed p.L1015 1.000 62 0% 90 18.9% - - - - - HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin SORCS3 22986 genome.wustl.edu 37 10 107005371 107005371 + Missense_Mutation SNP G G T novel TCGA-BK-A0CC-01A-21W-A027-09 TCGA-BK-A0CC-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbecc159-21ec-44b5-9d09-80bcbd7a8617 42da56c4-e4d6-477a-920e-f2dc7abfdcb2 NM_014978.1 +1 reviewed p.Q980H 1.000 124 0% 188 22.9% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_PKD ZRANB1 54764 genome.wustl.edu 37 10 126660556 126660556 + Missense_Mutation SNP G G T novel TCGA-BK-A0CC-01A-21W-A027-09 TCGA-BK-A0CC-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbecc159-21ec-44b5-9d09-80bcbd7a8617 42da56c4-e4d6-477a-920e-f2dc7abfdcb2 NM_017580.2 +1 validated p.C342F 1.000 276 0% 900 44.6% - - probably_damaging(0.986) tolerated(0.2) deleterious(0.483) NULL FOLH1 2346 genome.wustl.edu 37 11 49170247 49170247 + Missense_Mutation SNP C C A novel TCGA-BK-A0CC-01A-21W-A027-09 TCGA-BK-A0CC-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbecc159-21ec-44b5-9d09-80bcbd7a8617 42da56c4-e4d6-477a-920e-f2dc7abfdcb2 NM_004476.1 -1 reviewed p.M669I 1.000 93 0% 175 39.4% - - probably_damaging(0.999) tolerated(0.08) deleterious(0.790) HMMPfam_TFR_dimer,superfamily_Transferrin receptor ectodomain C-terminal domain ATP5B 506 genome.wustl.edu 37 12 57038732 57038732 + Silent SNP G G A novel TCGA-BK-A0CC-01A-21W-A027-09 TCGA-BK-A0CC-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbecc159-21ec-44b5-9d09-80bcbd7a8617 42da56c4-e4d6-477a-920e-f2dc7abfdcb2 NM_001686.3 -1 reviewed p.S106 1.000 84 0% 103 25.2% - - - - - HMMPfam_ATP-synt_ab_N,superfamily_N-terminal domain of alpha and beta subunits of F1 ATP synthase ERO1L 30001 genome.wustl.edu 37 14 53133139 53133139 + Missense_Mutation SNP C C A novel TCGA-BK-A0CC-01A-21W-A027-09 TCGA-BK-A0CC-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbecc159-21ec-44b5-9d09-80bcbd7a8617 42da56c4-e4d6-477a-920e-f2dc7abfdcb2 NM_014584.1 -1 provisional p.D195Y 0.995 71 0% 79 31.6% - - probably_damaging(0.98) deleterious(0) deleterious(0.869) HMMPfam_ERO1,superfamily_ERO1 OCA2 4948 genome.wustl.edu 37 15 28326871 28326871 + Silent SNP G G A novel TCGA-BK-A0CC-01A-21W-A027-09 TCGA-BK-A0CC-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbecc159-21ec-44b5-9d09-80bcbd7a8617 42da56c4-e4d6-477a-920e-f2dc7abfdcb2 NM_000275.2 -1 reviewed p.S50 0.004 13 0% 13 46.2% - - - - - NULL SEMA7A 8482 genome.wustl.edu 37 15 74707190 74707190 + Missense_Mutation SNP G G A novel TCGA-BK-A0CC-01A-21W-A027-09 TCGA-BK-A0CC-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbecc159-21ec-44b5-9d09-80bcbd7a8617 42da56c4-e4d6-477a-920e-f2dc7abfdcb2 NM_003612.3 -1 reviewed p.R362W 0.653 14 0% 19 57.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema OR4F15 390649 genome.wustl.edu 37 15 102359095 102359095 + Missense_Mutation SNP G G T novel TCGA-BK-A0CC-01A-21W-A027-09 TCGA-BK-A0CC-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbecc159-21ec-44b5-9d09-80bcbd7a8617 42da56c4-e4d6-477a-920e-f2dc7abfdcb2 NM_001001674.1 +1 provisional p.A236S 1.000 534 0% 986 38.4% - - probably_damaging(0.978) deleterious(0) deleterious(0.865) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PHLPP2 23035 genome.wustl.edu 37 16 71683148 71683148 + Missense_Mutation SNP C C T novel TCGA-BK-A0CC-01A-21W-A027-09 TCGA-BK-A0CC-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbecc159-21ec-44b5-9d09-80bcbd7a8617 42da56c4-e4d6-477a-920e-f2dc7abfdcb2 NM_015020.2 -1 validated p.R1206Q 1.000 69 0% 73 61.6% - - benign(0.022) tolerated(0.16) neutral(0.060) NULL TP53 7157 genome.wustl.edu 37 17 7576855 7576855 + Nonsense_Mutation SNP G G A novel TCGA-BK-A0CC-01A-21W-A027-09 TCGA-BK-A0CC-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbecc159-21ec-44b5-9d09-80bcbd7a8617 42da56c4-e4d6-477a-920e-f2dc7abfdcb2 NM_000546.4 -1 reviewed p.Q331* 0.999 98 0% 127 65.4% - - - - - HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain CACNG4 27092 genome.wustl.edu 37 17 65027083 65027101 + Frame_Shift_Del DEL ACGTCAGCATGCTGAACCG ACGTCAGCATGCTGAACCG - novel TCGA-BK-A0CC-01A-21W-A027-09 TCGA-BK-A0CC-10A-01W-A027-09 ACGTCAGCATGCTGAACCG ACGTCAGCATGCTGAACCG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbecc159-21ec-44b5-9d09-80bcbd7a8617 42da56c4-e4d6-477a-920e-f2dc7abfdcb2 NM_014405.2 +1 reviewed p.V317fs 0.618:0.221:0.705:0.990:0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.996:1.000:1.000:1.000:1.000:1.000 - - - - - - - - - NULL POTEC 388468 genome.wustl.edu 37 18 14511815 14511815 + Missense_Mutation SNP A A C novel TCGA-BK-A0CC-01A-21W-A027-09 TCGA-BK-A0CC-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbecc159-21ec-44b5-9d09-80bcbd7a8617 42da56c4-e4d6-477a-920e-f2dc7abfdcb2 ENST00000444806 -1 known p.L570R 0.105 105 0% 254 29.1% - - - - - NULL SETBP1 26040 genome.wustl.edu 37 18 42643074 42643074 + Missense_Mutation SNP G G T novel TCGA-BK-A0CC-01A-21W-A027-09 TCGA-BK-A0CC-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbecc159-21ec-44b5-9d09-80bcbd7a8617 42da56c4-e4d6-477a-920e-f2dc7abfdcb2 NM_015559.2 +1 validated p.R1401L 1.000 42 0% 64 25% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CDH7 1005 genome.wustl.edu 37 18 63477090 63477090 + Nonsense_Mutation SNP C C T novel TCGA-BK-A0CC-01A-21W-A027-09 TCGA-BK-A0CC-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbecc159-21ec-44b5-9d09-80bcbd7a8617 42da56c4-e4d6-477a-920e-f2dc7abfdcb2 NM_004361.2 +1 reviewed p.R121* 0.995 218 0% 237 58.2% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like ATP9B 374868 genome.wustl.edu 37 18 76936816 76936816 + Missense_Mutation SNP C C T novel TCGA-BK-A0CC-01A-21W-A027-09 TCGA-BK-A0CC-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbecc159-21ec-44b5-9d09-80bcbd7a8617 42da56c4-e4d6-477a-920e-f2dc7abfdcb2 NM_198531.3 +1 validated p.S261L 1.000 151 0% 144 17.4% - - possibly_damaging(0.892) deleterious(0.02) deleterious(0.734) HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A PPP2R1A 5518 genome.wustl.edu 37 19 52716323 52716323 + Missense_Mutation SNP C C T novel TCGA-BK-A0CC-01A-21W-A027-09 TCGA-BK-A0CC-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbecc159-21ec-44b5-9d09-80bcbd7a8617 42da56c4-e4d6-477a-920e-f2dc7abfdcb2 NM_014225.5 +1 reviewed p.S256F 1.000 38 0% 23 52.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HEAT,superfamily_ARM repeat RASSF2 9770 genome.wustl.edu 37 20 4768385 4768385 + Frame_Shift_Del DEL T T - novel TCGA-BK-A0CC-01A-21W-A027-09 TCGA-BK-A0CC-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbecc159-21ec-44b5-9d09-80bcbd7a8617 42da56c4-e4d6-477a-920e-f2dc7abfdcb2 NM_014737.2 -1 reviewed p.K236fs 1.000 - - - - - - - - - HMMPfam_RA,HMMSmart_RA ZC3H7B 23264 genome.wustl.edu 37 22 41726076 41726085 + Frame_Shift_Del DEL TGCGAGTTCG TGCGAGTTCG - novel TCGA-BK-A0CC-01A-21W-A027-09 TCGA-BK-A0CC-10A-01W-A027-09 TGCGAGTTCG TGCGAGTTCG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbecc159-21ec-44b5-9d09-80bcbd7a8617 42da56c4-e4d6-477a-920e-f2dc7abfdcb2 NM_017590.4 +1 reviewed p.L165fs 1.000:0.998:1.000:0.996:0.981:0.978:0.862:0.565:1.000:1.000 - - - - - - - - - NULL IL3RA 3563 genome.wustl.edu 37 X 1467396 1467396 + Missense_Mutation SNP G G C novel TCGA-BK-A0CC-01A-21W-A027-09 TCGA-BK-A0CC-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbecc159-21ec-44b5-9d09-80bcbd7a8617 42da56c4-e4d6-477a-920e-f2dc7abfdcb2 NM_002183.2 +1 reviewed p.A86P 0.029 211 0% 219 21% - - benign(0.138) tolerated(0.09) neutral(0.308) NULL ZNF449 203523 genome.wustl.edu 37 X 134483146 134483146 + Nonsense_Mutation SNP G G T novel TCGA-BK-A0CC-01A-21W-A027-09 TCGA-BK-A0CC-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbecc159-21ec-44b5-9d09-80bcbd7a8617 42da56c4-e4d6-477a-920e-f2dc7abfdcb2 NM_152695.5 +1 reviewed p.E156* 0.007 141 0% 141 68.1% - - - - - NULL UBL4A 8266 genome.wustl.edu 37 X 153714208 153714208 + Missense_Mutation SNP C C T novel TCGA-BK-A0CC-01A-21W-A027-09 TCGA-BK-A0CC-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbecc159-21ec-44b5-9d09-80bcbd7a8617 42da56c4-e4d6-477a-920e-f2dc7abfdcb2 NM_014235.3 -1 provisional p.D89N 0.063 12 0% 10 50% - - benign(0.005) tolerated(0.48) neutral(0.011) NULL