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 27094331 27094332 + Frame_Shift_Ins INS - - CT novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 NM_006015.4 +1 reviewed p.G1014fs 0.999:1.000 - - - - - - - - - HMMPfam_ARID,superfamily_ARID-like RPAP2 79871 genome.wustl.edu 37 1 92846378 92846378 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 ENST00000370343 +1 known p.E596* 1.000 268 0% 434 41.7% 1 0% - - - NULL TMEM127 55654 genome.wustl.edu 37 2 96919740 96919740 + Missense_Mutation SNP C C T novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 NM_017849.1 -1 provisional p.V175I 0.995 83 0% 75 10.7% 19 5.2% benign(0) tolerated(0.41) neutral(0.015) NULL VWA3B 200403 genome.wustl.edu 37 2 98866865 98866865 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 NM_144992.4 +1 provisional p.R920* 1.000 252 0% 306 37.6% 3 0% - - - NULL FMNL2 114793 genome.wustl.edu 37 2 153431670 153431670 + Missense_Mutation SNP G G A novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 NM_052905.3 +1 reviewed p.R206K 1.000 30 0% 23 43.5% 0 - possibly_damaging(0.64) tolerated(0.46) neutral(0.236) HMMPfam_Drf_GBD PARD3B 117583 genome.wustl.edu 37 2 206364632 206364632 + Silent SNP G G A novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 NM_152526.4 +1 validated p.T957 0.000 318 0% 346 40.2% 0 - - - - NULL SPHKAP 80309 genome.wustl.edu 37 2 228881457 228881457 + Silent SNP C C T novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 NM_001142644.1 -1 validated p.P1371 0.004 118 0% 124 39.5% 0 - - - - NULL PTMA 5757 genome.wustl.edu 37 2 232577188 232577189 + Frame_Shift_Del DEL GA GA - novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 NM_001099285.1 +1 validated p.E84fs 1.000:1.000 - - - - - - - - - HMMPfam_Prothymosin CTNNB1 1499 genome.wustl.edu 37 3 41266101 41266101 + Missense_Mutation SNP C C T rs121913400 byCluster TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 NM_001098209.1 +1 reviewed p.S33F 1.000 101 0% 105 43.8% 45 53.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL COL7A1 1294 genome.wustl.edu 37 3 48629186 48629186 + Missense_Mutation SNP G G A novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 NM_000094.3 -1 reviewed p.P476L 1.000 22 0% 45 40% 0 - unknown(0) deleterious(0) - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PIK3CA 5290 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G rs121913279 byCluster TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 NM_006218.2 +1 reviewed p.H1047R 1.000 261 0% 244 39.8% 1 0% possibly_damaging(0.926) deleterious(0.03) deleterious(0.739) HMMSmart_PI3Kc,superfamily_Kinase_like TBC1D14 57533 genome.wustl.edu 37 4 7011634 7011634 + Missense_Mutation SNP A A G novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 NM_001113361.1 +1 validated p.I493V 1.000 167 0% 166 42.8% 7 57.1% benign(0) tolerated(0.43) neutral(0.013) HMMPfam_TBC,HMMSmart_TBC,superfamily_RabGAP_TBC EPHA5 2044 genome.wustl.edu 37 4 66286238 66286238 + Missense_Mutation SNP T T C novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 NM_004439.5 -1 reviewed p.N483S 1.000 87 0% 112 39.3% 0 - benign(0.002) tolerated(0.74) neutral(0.002) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PCDHA7 56141 genome.wustl.edu 37 5 140214265 140214265 + Silent SNP C C T novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 NM_018910.2 +1 reviewed p.S99 0.216 79 0% 139 39.6% 0 - - - - HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like RBM27 54439 genome.wustl.edu 37 5 145649057 145649058 + Frame_Shift_Del DEL AG AG - novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 NM_018989.1 +1 validated p.E868fs 1.000:1.000 - - - - - - - - - NULL TMEM14B 81853 genome.wustl.edu 37 6 10755447 10755447 + Missense_Mutation SNP G G T novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 NM_030969.3 +1 validated p.G92V 0.989 108 0% 83 41% 79 62% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_Tmemb_14 HIST1H2BN 8341 genome.wustl.edu 37 6 27806644 27806644 + Missense_Mutation SNP G G A novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 NM_003520.3 +1 reviewed p.D69N 1.000 216 0% 181 42.5% 2 100% benign(0.002) deleterious(0) neutral(0.445) HMMSmart_SM00427,HMMPfam_Histone,superfamily_Histone-fold RGL2 5863 genome.wustl.edu 37 6 33261826 33261826 + Missense_Mutation SNP A A C novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 NM_004761.3 -1 validated p.F457L 0.999 189 0.5% 156 37.8% 17 35.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF,PatternScan_RASGEF GSTA5 221357 genome.wustl.edu 37 6 52698998 52698998 + Missense_Mutation SNP C C T novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 NM_153699.1 -1 provisional p.A119T 0.030 418 0% 461 36.9% 0 - benign(0.003) tolerated(0.32) neutral(0.024) HMMPfam_GST_C,superfamily_GST_C_like DAGLB 221955 genome.wustl.edu 37 7 6487453 6487453 + Silent SNP G G A novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 NM_139179.3 -1 validated p.F7 0.998 25 0% 19 31.6% 0 - - - - NULL CTTNBP2 83992 genome.wustl.edu 37 7 117364737 117364737 + Silent SNP G G A novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 ENST00000446636 -1 known p.H925Y 0.921 74 0% 74 18.9% 2 0% - - - NULL PTCH1 5727 genome.wustl.edu 37 9 98231085 98231085 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 NM_000264.3 -1 reviewed p.S733* 0.979 212 0% 186 49.5% 0 - - - - HMMPfam_Patched TIMM23 100287932 genome.wustl.edu 37 10 51620376 51620376 + Missense_Mutation SNP C C A novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 XM_002342986.1 -1 model p.G38V 1.000 298 0% 403 31.3% 13 38.4% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL LRIT1 26103 genome.wustl.edu 37 10 85993904 85993904 + Missense_Mutation SNP G G A novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 NM_015613.2 -1 validated p.R274C 1.000 38 0% 73 17.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_IGc2,HMMPfam_ig,superfamily_SSF48726 PTEN 5728 genome.wustl.edu 37 10 89653796 89653798 + In_Frame_Del DEL ATT ATT - novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 ATT ATT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 ENST00000371953 +1 known p.I33in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II OR8J3 81168 genome.wustl.edu 37 11 55905082 55905082 + Missense_Mutation SNP G G A novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 NM_001004064.1 -1 provisional p.T38I 0.095 248 0% 249 41.8% 0 - benign(0.021) deleterious(0.05) neutral(0.346) superfamily_SSF81321 LRRC55 219527 genome.wustl.edu 37 11 56949971 56949971 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 NM_001005210.2 +1 validated p.Q202* 1.000 88 0% 68 38.2% 0 - - - - HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like CTNND1 1500 genome.wustl.edu 37 11 57564253 57564253 + Missense_Mutation SNP C C T novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 NM_001085458.1 +1 validated p.R249W 1.000 147 0% 194 43.8% 20 45% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL STIP1 10963 genome.wustl.edu 37 11 63971590 63971590 + Missense_Mutation SNP A A G novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 NM_006819.2 +1 validated p.I542V 1.000 122 0% 142 46.5% 100 43% possibly_damaging(0.696) tolerated(0.5) neutral(0.260) NULL PZP 5858 genome.wustl.edu 37 12 9333602 9333602 + Missense_Mutation SNP C C T novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 NM_002864.2 -1 validated p.E606K 0.731 100 0% 121 35.5% 0 - possibly_damaging(0.571) deleterious(0.01) deleterious(0.601) NULL TMTC1 83857 genome.wustl.edu 37 12 29911684 29911684 + Silent SNP G G A novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 NM_175861.2 -1 provisional p.D61 0.996 63 0% 67 20.9% 1 0% - - - NULL LRP1 4035 genome.wustl.edu 37 12 57589116 57589116 + Missense_Mutation SNP C C T novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 NM_002332.2 +1 reviewed p.R2791C 1.000 17 0% 72 47.2% 0 - probably_damaging(0.99) tolerated(0.19) deleterious(0.491) HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,superfamily_LDL receptor-like module,superfamily_YWTD domain MED13L 23389 genome.wustl.edu 37 12 116399194 116399194 + Silent SNP C C T novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 NM_015335.3 -1 validated p.L2170 1.000 105 0% 100 49% 5 40% - - - NULL FAM216B 144809 genome.wustl.edu 37 13 43362778 43362778 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 NM_182508.2 +1 validated p.S91* 0.970 213 0% 188 45.7% 35 57.1% - - - NULL CAB39L 81617 genome.wustl.edu 37 13 49884970 49884970 + Missense_Mutation SNP A A C novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 NM_001079670.1 -1 validated p.L332V 1.000 83 0% 140 37.1% 0 - possibly_damaging(0.949) deleterious(0) deleterious(0.838) HMMPfam_Mo25,superfamily_ARM-type_fold PCDH17 27253 genome.wustl.edu 37 13 58208384 58208384 + Silent SNP G G A novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 NM_001040429.2 +1 reviewed p.T568 0.001 12 0% 32 50% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like MOAP1 64112 genome.wustl.edu 37 14 93650120 93650120 + Silent SNP G G C novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 NM_022151.4 -1 reviewed p.A156 0.987 34 0% 74 13.5% 18 5.5% - - - NULL C15orf2 23742 genome.wustl.edu 37 15 24923617 24923617 + Missense_Mutation SNP C C T novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 NM_018958.2 +1 reviewed p.S868L 0.002 71 0% 122 41% 0 - benign(0.048) deleterious(0.02) neutral(0.386) NULL XYLT1 64131 genome.wustl.edu 37 16 17232349 17232349 + Missense_Mutation SNP C C T novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 NM_022166.3 -1 reviewed p.D543N 0.998 59 0% 99 36.4% 2 0% benign(0.018) tolerated(0.23) neutral(0.042) NULL CTCF 10664 genome.wustl.edu 37 16 67645502 67645506 + Frame_Shift_Del DEL AAATT AAATT - novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 AAATT AAATT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 NM_006565.2 +1 reviewed p.I257fs 1.000:1.000:1.000:1.000:1.000 - - - - - - - - - NULL GLG1 2734 genome.wustl.edu 37 16 74486876 74486876 + RNA SNP C C T rs147323996 by1000genomes TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 NR_027264.1 -1 validated NULL 0.418 14 0% 12 41.7% 46 50% - - - - RAP1GAP2 23108 genome.wustl.edu 37 17 2867264 2867266 + In_Frame_Del DEL GAG GAG - novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 NM_015085.4 +1 reviewed p.E135in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL TEKT1 83659 genome.wustl.edu 37 17 6718541 6718541 + Silent SNP C C T novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 NM_053285.1 -1 reviewed p.S190 0.557 180 0% 210 39.5% 23 60.8% - - - HMMPfam_Tektin DHRS13 147015 genome.wustl.edu 37 17 27225678 27225678 + Silent SNP C C T novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 NM_144683.3 -1 validated p.E305 1.000 11 0% 33 39.4% 10 40% - - - NULL CSF3 1440 genome.wustl.edu 37 17 38173151 38173151 + Missense_Mutation SNP C C G novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 NM_000759.3 +1 reviewed p.S188C 0.010 34 0% 41 41.5% 1 0% probably_damaging(0.985) deleterious(0.01) deleterious(0.838) HMMPfam_IL6,HMMSmart_SM00126,superfamily_4-helical cytokines LOC644253 644253 genome.wustl.edu 37 17 44321680 44321680 + Missense_Mutation SNP G G A novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 XM_001719157.2 +1 model p.R180H 0.997 41 0% 108 28.7% 0 - - - - superfamily_SH3-domain LOC100289681 100289681 genome.wustl.edu 37 17 73269589 73269589 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 XM_002343582.1 +1 model p.R266* 1.000 24 0% 36 36.1% 11 18.1% - - - NULL EPB41L3 23136 genome.wustl.edu 37 18 5419890 5419890 + Silent SNP A A G novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 ENST00000400111 -1 known p.S460 0.999 178 0% 192 44.3% 0 - - - - NULL C18orf26 284254 genome.wustl.edu 37 18 52265328 52265328 + Silent SNP C C T novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 NM_173629.1 +1 predicted p.A195 0.000 282 0% 329 36.2% 0 - - - - NULL RINL 126432 genome.wustl.edu 37 19 39360003 39360003 + Missense_Mutation SNP G G A novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 NM_198445.2 -1 provisional p.H394Y 1.000 12 0% 21 42.9% 0 - probably_damaging(0.997) deleterious(0.03) deleterious(0.831) HMMPfam_VPS9,superfamily_SSF109993 ZNF525 170958 genome.wustl.edu 37 19 53879562 53879564 + In_Frame_Del DEL ACA ACA - rs72163028 byCluster;by1000genomes TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 ACA ACA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 ENST00000491101 +1 known p.T106in_frame_del 0.076:0.064:0.063 - - - - - - - - - NULL UQCC 55245 genome.wustl.edu 37 20 33935061 33935061 + Missense_Mutation SNP C C A novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 NM_018244.4 -1 reviewed p.R160L 1.000 374 0% 245 35.5% 11 27.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ubiq_cyt_C_chap LOC100288309 100288309 genome.wustl.edu 37 22 19163577 19163578 + Frame_Shift_Ins INS - - AT rs35359423 byCluster;by1000genomes TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 XM_002344193.1 +1 model p.R50fs 0.658:0.002 - - - - - - - - - NULL SEZ6L 23544 genome.wustl.edu 37 22 26747088 26747088 + Silent SNP G G T novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 NM_021115.4 +1 validated p.V826 1.000 59 0% 109 47.7% 10 70% - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain MFNG 4242 genome.wustl.edu 37 22 37876232 37876232 + Missense_Mutation SNP C C T novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 ENST00000450946 -1 known p.R137Q 0.956 89 0% 75 12% 0 - unknown(0) - - HMMPfam_Fringe ENSG00000211459 0 genome.wustl.edu 37 MT 1574 1574 + RNA SNP G G A novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 ENST00000389680 +1 known NULL NULL 97 0% 63 15.9% 78 20.5% - - - - ENSG00000198888 0 genome.wustl.edu 37 MT 3982 3982 + Missense_Mutation SNP G G A novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 ENST00000361390 +1 known p.A226T NULL 147 0% 122 86.1% 2204 82.4% possibly_damaging(0.908) deleterious(0) deleterious(0.806) HMMPfam_NADHdh DDX53 168400 genome.wustl.edu 37 X 23018495 23018495 + Silent SNP G G A novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 NM_182699.2 +1 validated p.A107 0.000 221 0.5% 218 40.4% 0 - - - - HMMSmart_KH,HMMPfam_KH_1,superfamily_SSF54791 SHROOM4 57477 genome.wustl.edu 37 X 50376992 50376992 + Missense_Mutation SNP G G A novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 NM_020717.3 -1 reviewed p.S694F 0.001 66 0% 72 54.2% 0 - possibly_damaging(0.688) deleterious(0.01) deleterious(0.651) NULL ZDHHC15 158866 genome.wustl.edu 37 X 74698740 74698740 + Missense_Mutation SNP G G T novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 NM_144969.2 -1 reviewed p.Q82K 0.999 177 0% 123 40.7% 0 - benign(0.002) tolerated(1) - NULL KLHL4 56062 genome.wustl.edu 37 X 86877347 86877347 + Missense_Mutation SNP G G A novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 NM_057162.2 +1 reviewed p.G354E 0.555 170 0% 192 42.7% 0 - benign(0.003) tolerated(0.27) neutral(0.034) HMMPfam_BACK XPNPEP2 7512 genome.wustl.edu 37 X 128876140 128876140 + Missense_Mutation SNP T T C novel TCGA-AX-A05T-01A-11W-A027-09 TCGA-AX-A05T-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02f9f79e-b088-4d0f-bcb3-08bdc039292f cccd667a-5241-4787-89d9-ad6bc88455f4 NM_003399.5 +1 reviewed p.C36R 1.000 42 0% 33 48.5% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL