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 MIB2 142678 genome.wustl.edu 37 1 1563440 1563440 + Silent SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 ENST00000514234 +1 known p.G448R 0.003 30 0% 23 39.1% 55 29% - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat CDK11B 984 genome.wustl.edu 37 1 1573156 1573156 + Missense_Mutation SNP T T C novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_033487.1 -1 reviewed p.K222E 1.000 260 0% 258 26.7% 65 32.3% - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase CASZ1 54897 genome.wustl.edu 37 1 10710785 10710785 + Silent SNP C C T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_001079843.1 -1 validated p.P948 0.983 133 0% 131 31.3% 11 27.2% - - - NULL EPHA10 284656 genome.wustl.edu 37 1 38227313 38227313 + Missense_Mutation SNP C C T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_001099439.1 -1 validated p.R205H 1.000 17 0% 16 50% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Ephrin_lbd,HMMSmart_SM00615,PatternScan_RECEPTOR_TYR_KIN_V_1,superfamily_Galactose-binding domain-like SZT2 23334 genome.wustl.edu 37 1 43891161 43891161 + Missense_Mutation SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_015284.2 +1 predicted p.D46N 1.000 122 0% 109 34.9% 4 25% possibly_damaging(0.921) deleterious(0.03) deleterious(0.736) NULL MIR761 100313892 genome.wustl.edu 37 1 52302014 52302014 + RNA SNP C C T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 ENST00000390787 -1 known NULL 1.000 58 0% 48 31.2% 0 - - - - - ROR1 4919 genome.wustl.edu 37 1 64515550 64515550 + Silent SNP G G T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_005012.2 +1 validated p.R117 0.820 95 0% 89 36% 1 100% - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin ST6GALNAC5 81849 genome.wustl.edu 37 1 77509991 77509991 + Missense_Mutation SNP C C T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_030965.1 +1 provisional p.R122C 1.000 34 0% 26 38.5% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_Glyco_transf_29 GIPC2 54810 genome.wustl.edu 37 1 78546359 78546359 + Missense_Mutation SNP A A C novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_017655.4 +1 validated p.I81L 1.000 193 0% 168 30.4% 1 100% probably_damaging(0.97) deleterious(0.01) deleterious(0.818) NULL MCOLN2 255231 genome.wustl.edu 37 1 85397106 85397106 + Missense_Mutation SNP A A T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_153259.2 -1 reviewed p.F494Y 0.999 71 0% 77 28.6% 2 0% probably_damaging(1) tolerated(0.36) deleterious(0.520) HMMPfam_Ion_trans RTCD1 8634 genome.wustl.edu 37 1 100742858 100742858 + Missense_Mutation SNP C C T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_001130841.1 +1 validated p.S275L 0.941 251 0% 208 24.5% 65 46.1% benign(0.045) deleterious(0.01) neutral(0.408) HMMPfam_RTC,superfamily_RNA 3'-terminal phosphate cyclase RPTC insert domain,HMMPfam_RTC_insert FLG 2312 genome.wustl.edu 37 1 152275813 152275813 + Missense_Mutation SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_002016.1 -1 reviewed p.S3850L 0.000 284 0% 448 55.8% 0 - unknown(0) tolerated(0.08) - HMMPfam_Filaggrin RAB13 5872 genome.wustl.edu 37 1 153955755 153955755 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_002870.2 -1 provisional p.Y88* 0.996 146 0% 230 16.1% 190 2.6% - - - HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 HCN3 57657 genome.wustl.edu 37 1 155254501 155254501 + Missense_Mutation SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_020897.1 +1 validated p.A348T 1.000 28 0% 59 16.9% 7 14.2% benign(0.004) tolerated(0.5) neutral(0.010) superfamily_SSF81324 KIFAP3 22920 genome.wustl.edu 37 1 170001112 170001112 + Silent SNP A A G novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_014970.2 -1 reviewed p.P252 1.000 246 0% 295 54.6% 15 80% - - - HMMPfam_KAP,superfamily_ARM repeat ZBTB37 84614 genome.wustl.edu 37 1 173854843 173854843 + Missense_Mutation SNP C C T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_001122770.1 +1 provisional p.R365W 1.000 105 0% 148 16.2% 2 0% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL PAPPA2 60676 genome.wustl.edu 37 1 176564093 176564093 + Silent SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_020318.2 +1 validated p.A451 0.000 91 0% 142 16.2% 0 - - - - NULL RASAL2 9462 genome.wustl.edu 37 1 178425889 178425889 + Missense_Mutation SNP G G T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_170692.2 +1 reviewed p.V738F 1.000 136 0% 190 17.4% 4 0% benign(0.004) deleterious(0) neutral(0.445) HMMSmart_RasGAP C1orf106 55765 genome.wustl.edu 37 1 200869348 200869348 + Missense_Mutation SNP G G T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_018265.2 +1 validated p.E184D 0.995 44 0% 54 22.2% 2 0% possibly_damaging(0.794) tolerated(0.15) deleterious(0.539) NULL KIF21B 23046 genome.wustl.edu 37 1 200965446 200965446 + Missense_Mutation SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_017596.2 -1 provisional p.R719W 1.000 165 0% 231 13.4% 2 0% probably_damaging(0.959) deleterious(0) deleterious(0.847) superfamily_WD40_like NFASC 23114 genome.wustl.edu 37 1 204943405 204943405 + Missense_Mutation SNP C C A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_015090.3 +1 reviewed p.P471T 1.000 68 0% 94 19.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 TLR5 7100 genome.wustl.edu 37 1 223285632 223285632 + Missense_Mutation SNP T T C novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_003268.5 -1 reviewed p.N248D 0.002 97 0% 164 11.6% 25 28% benign(0.003) tolerated(0.27) neutral(0.034) superfamily_SSF52058 TRIM11 81559 genome.wustl.edu 37 1 228582438 228582438 + Missense_Mutation SNP C C A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_145214.2 -1 reviewed p.G459C 0.636 43 0% 53 17% 74 18.9% probably_damaging(0.993) deleterious(0.05) deleterious(0.795) NULL RYR2 6262 genome.wustl.edu 37 1 237656338 237656338 + Missense_Mutation SNP C C A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_001035.2 +1 reviewed p.P638T 1.000 144 0% 187 54% 0 - possibly_damaging(0.515) - - HMMPfam_RYDR_ITPR RYR2 6262 genome.wustl.edu 37 1 237656339 237656339 + Missense_Mutation SNP C C A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_001035.2 +1 reviewed p.P638Q 1.000 141 0.7% 187 55.1% 0 - probably_damaging(0.965) - - HMMPfam_RYDR_ITPR KLF11 8462 genome.wustl.edu 37 2 10187921 10187921 + Missense_Mutation SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_003597.4 +1 reviewed p.A153T 0.000 86 0% 93 32.3% 3 66.6% benign(0.002) tolerated(0.49) neutral(0.011) NULL GREB1 9687 genome.wustl.edu 37 2 11780447 11780447 + Missense_Mutation SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_014668.3 +1 reviewed p.R1906Q 1.000 61 0% 47 23.4% 149 41.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL PUM2 23369 genome.wustl.edu 37 2 20463061 20463061 + Silent SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_015317.1 -1 provisional p.G706 1.000 92 0% 102 28.4% 20 45% - - - superfamily_ARM repeat IGKV1D-12 28903 genome.wustl.edu 37 2 90199113 90199113 + Missense_Mutation SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 ENST00000390276 +1 known p.D92N 1.000 315 0% 274 29.2% 32 0% benign(0.008) tolerated(0.07) neutral(0.319) HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin UXS1 80146 genome.wustl.edu 37 2 106729123 106729123 + Silent SNP C C T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_025076.3 -1 validated p.A281 0.169 30 0% 41 31.7% 76 32.8% - - - HMMPfam_Epimerase,superfamily_NAD(P)-binding Rossmann-fold domains NCKAP5 344148 genome.wustl.edu 37 2 133540398 133540398 + Missense_Mutation SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_207363.2 -1 validated p.A1329V 0.000 77 0% 86 24.4% 1 0% benign(0) tolerated(1) - NULL LRP1B 53353 genome.wustl.edu 37 2 140992400 140992400 + Silent SNP C C T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_018557.2 -1 validated p.P4538 1.000 194 0% 178 32% 0 - - - - NULL NFE2L2 4780 genome.wustl.edu 37 2 178098799 178098799 + Missense_Mutation SNP T T A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_006164.3 -1 validated p.E82D 1.000 248 0% 280 30.7% 61 37.7% possibly_damaging(0.942) deleterious(0) deleterious(0.832) NULL TTN 7273 genome.wustl.edu 37 2 179410569 179410569 + Silent SNP T T C novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_133378.4 -1 reviewed p.Q29230R 0.194 154 0% 134 23.9% 0 - - - - NULL ITGA4 3676 genome.wustl.edu 37 2 182360660 182360660 + Silent SNP C C T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_000885.4 +1 reviewed p.Y512 0.991 148 0% 132 35.6% 1 0% - - - HMMPfam_Integrin_alpha2,superfamily_Integrin domains ATG7 10533 genome.wustl.edu 37 3 11421449 11421449 + Silent SNP C C A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 ENST00000446110 +1 known p.P27Q 1.000 266 0% 267 29.2% 15 0% - - - NULL SH3BP5 9467 genome.wustl.edu 37 3 15345703 15345703 + Missense_Mutation SNP T T G novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_004844.3 -1 validated p.E79D 1.000 129 0% 137 24.8% 14 21.4% probably_damaging(0.996) tolerated(0.12) deleterious(0.722) HMMPfam_SH3BP5 SATB1 6304 genome.wustl.edu 37 3 18462366 18462366 + Missense_Mutation SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_001131010.1 -1 validated p.R32C 1.000 139 0% 142 32.4% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SLC6A20 54716 genome.wustl.edu 37 3 45812893 45812895 + In_Frame_Del DEL AGA AGA - novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_020208.3 -1 reviewed p.F250in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_SNF BAP1 8314 genome.wustl.edu 37 3 52438493 52438493 + Missense_Mutation SNP A A G novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_004656.2 -1 reviewed p.V409A 0.977 137 0% 138 29% 35 20% benign(0.002) tolerated(0.62) neutral(0.004) NULL TMPRSS7 344805 genome.wustl.edu 37 3 111799851 111799851 + Nonsense_Mutation SNP C C T rs147783135 by1000genomes TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_001042575.2 +1 validated p.R692* 1.000 326 0% 310 29.7% 0 - - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases NCBP2 22916 genome.wustl.edu 37 3 196669358 196669358 + Missense_Mutation SNP A A T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_007362.3 -1 reviewed p.L6Q 1.000 14 0% 20 35% 14 21.4% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_RNA-binding domain RBD DRD5 1816 genome.wustl.edu 37 4 9784001 9784001 + Missense_Mutation SNP G G T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_000798.4 +1 reviewed p.W116C 1.000 53 0% 66 30.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like SEPSECS 51091 genome.wustl.edu 37 4 25157685 25157685 + Missense_Mutation SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_016955.3 -1 validated p.S95F 1.000 241 0% 235 28.1% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SLA_LP_auto_ag,superfamily_PLP-dependent transferases CWH43 80157 genome.wustl.edu 37 4 49040060 49040060 + Missense_Mutation SNP C C A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_025087.2 +1 validated p.L556I 0.999 48 0% 52 26.9% 14 35.7% probably_damaging(0.996) tolerated(0.18) deleterious(0.518) NULL HERC6 55008 genome.wustl.edu 37 4 89357034 89357034 + Missense_Mutation SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_017912.3 +1 validated p.R803Q 0.000 122 0% 136 27.2% 5 20% benign(0.001) tolerated(0.14) neutral(0.249) HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain MAML3 55534 genome.wustl.edu 37 4 140640759 140640759 + Silent SNP T T A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_018717.4 -1 validated p.P1040 0.531 51 0% 39 33.3% 18 33.3% - - - NULL LRBA 987 genome.wustl.edu 37 4 151829489 151829489 + Missense_Mutation SNP A A G novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_006726.2 -1 validated p.I497T 1.000 153 0% 134 28.4% 3 33.3% benign(0.248) deleterious(0.01) neutral(0.431) superfamily_ARM repeat RXFP1 59350 genome.wustl.edu 37 4 159568024 159568024 + Missense_Mutation SNP C C T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_021634.2 +1 provisional p.A476V 1.000 178 0.6% 190 23.7% 102 36.2% benign(0.027) tolerated(0.19) neutral(0.051) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ANXA10 11199 genome.wustl.edu 37 4 169108563 169108563 + Missense_Mutation SNP C C T rs181214351 by1000genomes TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_007193.3 +1 reviewed p.A318V 1.000 176 0% 197 31.5% 0 - possibly_damaging(0.621) deleterious(0) deleterious(0.661) superfamily_Annexin SLC9A3 6550 genome.wustl.edu 37 5 475114 475114 + Silent SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_004174.2 -1 validated p.P795 0.002 13 0% 11 36.4% 1 0% - - - NULL DNAH5 1767 genome.wustl.edu 37 5 13824359 13824359 + Silent SNP C C T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_001369.2 -1 reviewed p.T2176 0.087 104 0% 97 22.7% 2 100% - - - superfamily_SSF52540 PRDM9 56979 genome.wustl.edu 37 5 23524522 23524522 + Missense_Mutation SNP T T C novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_020227.2 +1 provisional p.C344R 1.000 188 0% 194 27.3% 0 - possibly_damaging(0.449) deleterious(0.01) deleterious(0.552) HMMSmart_SET,superfamily_SSF82199 MAP1B 4131 genome.wustl.edu 37 5 71492953 71492953 + Silent SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_005909.3 +1 validated p.P1257 0.028 68 0% 73 37% 3 0% - - - NULL FBN2 2201 genome.wustl.edu 37 5 127599171 127599171 + Missense_Mutation SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_001999.3 -1 reviewed p.T2713M 0.995 66 0% 64 29.7% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin C5orf24 134553 genome.wustl.edu 37 5 134190864 134190864 + Missense_Mutation SNP C C T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_001135586.1 +1 validated p.R92W 1.000 78 0% 78 20.5% 16 18.7% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL PCDHA11 56138 genome.wustl.edu 37 5 140250260 140250260 + Silent SNP C C T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_018902.3 +1 reviewed p.H524 0.995 43 0% 49 46.9% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like TAP1 6890 genome.wustl.edu 37 6 32816545 32816545 + Missense_Mutation SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_000593.5 -1 reviewed p.R544C 1.000 232 0% 199 22.1% 92 10.8% probably_damaging(0.971) deleterious(0.02) deleterious(0.796) superfamily_ABC_TM_1 KHDRBS2 202559 genome.wustl.edu 37 6 62604684 62604684 + Silent SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_152688.2 -1 validated p.T222 0.964 57 0% 47 31.9% 0 - - - - NULL MMS22L 253714 genome.wustl.edu 37 6 97616054 97616054 + Missense_Mutation SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_198468.2 -1 predicted p.R968W 1.000 246 0% 201 32.8% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SIM1 6492 genome.wustl.edu 37 6 100838699 100838699 + Silent SNP T T C novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_005068.2 -1 reviewed p.P613 0.973 112 0% 117 31.6% 0 - - - - HMMPfam_SIM_C SMPD2 6610 genome.wustl.edu 37 6 109763791 109763791 + Missense_Mutation SNP C C T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_003080.2 +1 validated p.R152C 1.000 132 0% 130 27.7% 13 30.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Exo_endo_phos,superfamily_Exo_endo_phos GPRC6A 222545 genome.wustl.edu 37 6 117128090 117128090 + Missense_Mutation SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_148963.2 -1 validated p.R260W 0.988 199 0% 138 21.7% 0 - possibly_damaging(0.952) deleterious(0) deleterious(0.840) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I VNN1 8876 genome.wustl.edu 37 6 133005586 133005586 + Missense_Mutation SNP T T C novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_004666.2 -1 reviewed p.E416G 0.994 119 0% 91 36.3% 14 50% benign(0.001) tolerated(0.41) neutral(0.015) NULL DACT2 168002 genome.wustl.edu 37 6 168709168 168709168 + Missense_Mutation SNP C C A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_214462.3 -1 validated p.E423D 0.000 67 0% 68 10.3% 10 0% probably_damaging(0.963) deleterious(0) deleterious(0.850) NULL AEBP1 165 genome.wustl.edu 37 7 44152446 44152446 + Missense_Mutation SNP C C T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_001129.3 +1 reviewed p.A836V 0.789 52 0% 40 22.5% 145 0% benign(0.361) tolerated(0.07) neutral(0.433) HMMPfam_Peptidase_M14,HMMSmart_SM00631,superfamily_Zn-dependent exopeptidases HGF 3082 genome.wustl.edu 37 7 81392110 81392110 + Missense_Mutation SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_000601.4 -1 reviewed p.A56V 1.000 494 0% 435 24.1% 0 - benign(0.006) tolerated(0.18) neutral(0.056) HMMPfam_PAN_1,HMMSmart_SM00473,superfamily_Hairpin loop containing domain-like ANKIB1 54467 genome.wustl.edu 37 7 92027712 92027712 + Missense_Mutation SNP C C T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_019004.1 +1 validated p.R907W 0.938 133 0% 122 27% 9 22.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PEG10 23089 genome.wustl.edu 37 7 94293673 94293673 + Missense_Mutation SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_001040152.1 +1 reviewed p.D269N 0.063 15 0% 16 56.2% 15 6.6% probably_damaging(0.959) tolerated(0.37) neutral(0.422) NULL SLC25A13 10165 genome.wustl.edu 37 7 95751149 95751174 + Frame_Shift_Del DEL AGTTAAGAACACATTATTTCCATACC AGTTAAGAACACATTATTTCCATACC - novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 AGTTAAGAACACATTATTTCCATACC AGTTAAGAACACATTATTTCCATACC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_014251.2 -1 reviewed p.A584fs 1.000:1.000:1.000 - - - - - - - - - superfamily_Mitoch_carrier,HMMPfam_Mito_carr TRRAP 8295 genome.wustl.edu 37 7 98507757 98507757 + Missense_Mutation SNP C C G novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_003496.2 +1 validated p.L477V 1.000 36 0% 54 31.5% 2 50% unknown(0) tolerated(0.36) - NULL MUC12 10071 genome.wustl.edu 37 7 100635201 100635201 + Missense_Mutation SNP C C T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 ENST00000379442 +1 known p.P596S 0.006 560 0% 557 16.2% 0 - unknown(0) - - NULL MUC12 10071 genome.wustl.edu 37 7 100635644 100635644 + Silent SNP A A C novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 ENST00000379442 +1 known p.G743 0.001 822 0.1% 779 14.6% 0 - - - - NULL ZNF277 11179 genome.wustl.edu 37 7 111846853 111846853 + Missense_Mutation SNP G G T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_021994.2 +1 validated p.G28C 0.000 60 0% 50 36% 10 10% benign(0.406) deleterious(0.04) deleterious(0.479) NULL C7orf58 79974 genome.wustl.edu 37 7 120655806 120655806 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_024913.4 +1 validated p.Q113* 0.000 51 0% 53 30.2% 3 0% - - - NULL PLXNA4 91584 genome.wustl.edu 37 7 132174138 132174138 + Silent SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_020911.1 -1 validated p.D428 1.000 78 0% 76 21.1% 6 66.6% - - - HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain MGAM 8972 genome.wustl.edu 37 7 141764254 141764254 + Silent SNP C C T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_004668.2 +1 reviewed p.D1472 0.985 51 0% 66 30.3% 0 - - - - HMMPfam_Glyco_hydro_31 TRBV4-1 28617 genome.wustl.edu 37 7 142013480 142013480 + Missense_Mutation SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 ENST00000390357 +1 known p.S112N 1.000 84 0% 61 13.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_V-set,superfamily_Immunoglobulin TRBV9 28586 genome.wustl.edu 37 7 142239764 142239764 + Missense_Mutation SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 ENST00000390363 -1 known p.T39M 0.000 112 0% 141 31.2% 0 - probably_damaging(0.994) deleterious(0.01) deleterious(0.858) HMMPfam_V-set,superfamily_SSF48726 SSPO 23145 genome.wustl.edu 37 7 149505351 149505351 + Missense_Mutation SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 ENST00000378016 +1 known p.C2970Y 0.946 45 0% 39 23.1% 0 - - - - HMMSmart_SM00215 SLC4A2 6522 genome.wustl.edu 37 7 150767428 150767428 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_003040.3 +1 validated p.R482* 0.752 33 0% 38 13.2% 30 0% - - - HMMPfam_Band_3_cyto,superfamily_Phoshotransferase/anion transport protein NOM1 64434 genome.wustl.edu 37 7 156743391 156743391 + Silent SNP C C T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_138400.1 +1 provisional p.S320 0.000 100 0% 98 29.6% 9 33.3% - - - NULL PSD3 23362 genome.wustl.edu 37 8 18729300 18729300 + Silent SNP C C T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_015310.3 -1 validated p.E358 0.000 201 0% 173 29.5% 1 0% - - - NULL DOCK5 80005 genome.wustl.edu 37 8 25166362 25166362 + Silent SNP C C T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 ENST00000444569 +1 known p.R143C 0.599 53 0% 73 23.3% 0 - - - - NULL PTK2B 2185 genome.wustl.edu 37 8 27295365 27295365 + Missense_Mutation SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_004103.3 +1 reviewed p.M537I 1.000 58 0% 55 25.5% 12 25% benign(0.051) deleterious(0) neutral(0.448) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) DDHD2 23259 genome.wustl.edu 37 8 38095631 38095631 + Missense_Mutation SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_015214.2 +1 validated p.A176T 0.232 333 0% 337 31.5% 9 0% benign(0) tolerated(0.39) neutral(0.016) NULL MCM4 4173 genome.wustl.edu 37 8 48878899 48878899 + Missense_Mutation SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_005914.2 +1 reviewed p.G329R 0.018 23 0% 22 27.3% 25 44% benign(0) tolerated(0.16) neutral(0.059) HMMSmart_MCM,superfamily_Nucleic_acid_OB CA8 767 genome.wustl.edu 37 8 61135237 61135237 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_004056.4 -1 reviewed p.R237* 1.000 78 0% 93 34.4% 22 18.1% - - - HMMPfam_Carb_anhydrase,superfamily_Carbonic anhydrase RECQL4 9401 genome.wustl.edu 37 8 145741985 145741985 + Missense_Mutation SNP T T C novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 ENST00000428558 -1 known p.Q173R 0.940 34 0% 23 30.4% 3 100% - - - NULL TRPM3 80036 genome.wustl.edu 37 9 73151807 73151807 + Missense_Mutation SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_001007471.2 -1 reviewed p.P1396S 1.000 101 0% 96 24% 0 - probably_damaging(0.996) deleterious(0.03) deleterious(0.826) NULL DBC1 1620 genome.wustl.edu 37 9 121929877 121929877 + Missense_Mutation SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_014618.2 -1 validated p.R591C 1.000 44 0% 45 15.6% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL OLFML2A 169611 genome.wustl.edu 37 9 127572368 127572370 + In_Frame_Del DEL GAG GAG - novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_182487.2 +1 validated p.E546in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_OLF,HMMSmart_SM00284 BRD3 8019 genome.wustl.edu 37 9 136913227 136913227 + Missense_Mutation SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_007371.3 -1 reviewed p.P355L 1.000 21 0% 26 38.5% 16 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain,PatternScan_BROMODOMAIN_1 NDOR1 27158 genome.wustl.edu 37 9 140109649 140109649 + Missense_Mutation SNP C C G novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_001144026.1 +1 reviewed p.L390V 0.173 69 0% 71 25.4% 20 40% benign(0.001) tolerated(1) - HMMPfam_FAD_binding_1,superfamily_Riboflavin_synthase_like_b-brl DHTKD1 55526 genome.wustl.edu 37 10 12150004 12150004 + Missense_Mutation SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_018706.5 +1 validated p.R715H 1.000 92 0% 120 50% 12 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Transket_pyr,superfamily_Thiamin diphosphate-binding fold (THDP-binding) ABI1 10006 genome.wustl.edu 37 10 27037652 27037652 + Silent SNP T T C novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_005470.3 -1 validated p.T458 1.000 154 0% 163 49.7% 52 55.7% - - - HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain ANKRD26 22852 genome.wustl.edu 37 10 27326231 27326231 + Missense_Mutation SNP C C T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_014915.2 -1 validated p.A861T 0.506 136 0% 206 49% 1 0% benign(0) tolerated(1) - NULL ANK3 288 genome.wustl.edu 37 10 61844449 61844449 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_020987.2 -1 reviewed p.R1329* 1.000 90 0% 130 16.2% 24 12.5% - - - NULL ARID5B 84159 genome.wustl.edu 37 10 63845617 63845618 + Frame_Shift_Ins INS - - AAAGA novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_032199.2 +1 validated p.E455fs 1.000:1.000 - - - - - - - - - NULL MICU1 10367 genome.wustl.edu 37 10 74322806 74322806 + Silent SNP A A T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_006077.2 -1 validated p.S59 0.997 433 0% 502 23.3% 29 13.7% - - - NULL PTEN 5728 genome.wustl.edu 37 10 89692904 89692904 + Nonsense_Mutation SNP C C T rs121909224 byCluster TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 ENST00000371953 +1 known p.R130* 1.000 188 0% 229 48% 17 29.4% - - - HMMPfam_DSPc,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II BTRC 8945 genome.wustl.edu 37 10 103285953 103285953 + Missense_Mutation SNP G G T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_033637.2 +1 reviewed p.G247V 1.000 175 0% 205 40% 9 77.7% possibly_damaging(0.471) deleterious(0.03) deleterious(0.520) superfamily_F-box domain GBF1 8729 genome.wustl.edu 37 10 104139663 104139663 + Silent SNP G G T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_004193.1 +1 provisional p.V1609 0.999 152 0% 189 21.7% 53 24.5% - - - NULL SLC18A2 6571 genome.wustl.edu 37 10 119013922 119013922 + Missense_Mutation SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_003054.4 +1 reviewed p.G205D 1.000 66 0% 73 23.3% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MFS_1,superfamily_MFS general substrate transporter MUC6 4588 genome.wustl.edu 37 11 1013930 1013930 + Missense_Mutation SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_005961.2 -1 validated p.R2371C 0.991 10 0% 18 44.4% 0 - unknown(0) deleterious(0) - HMMSmart_SM00041 CHRM4 1132 genome.wustl.edu 37 11 46406742 46406742 + Missense_Mutation SNP A A G novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_000741.2 -1 reviewed p.C456R 1.000 141 0% 140 30.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Family A G protein-coupled receptor-like TNKS1BP1 85456 genome.wustl.edu 37 11 57077914 57077914 + Silent SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_033396.2 -1 validated p.G757 0.942 31 0% 41 36.6% 77 31.1% - - - NULL PITPNM1 9600 genome.wustl.edu 37 11 67267883 67267883 + Missense_Mutation SNP C C T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_004910.2 -1 validated p.R217Q 0.996 25 0% 25 20% 29 37.9% possibly_damaging(0.914) tolerated(0.09) deleterious(0.662) HMMPfam_IP_trans,superfamily_Bet v1-like SERPINH1 871 genome.wustl.edu 37 11 75282990 75282990 + Silent SNP C C T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_001235.2 +1 reviewed p.R373 0.011 26 0% 22 31.8% 342 8.1% - - - HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins SLC2A14 144195 genome.wustl.edu 37 12 7982489 7982489 + Missense_Mutation SNP C C G novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_153449.2 -1 provisional p.G152A 0.987 115 0% 131 22.1% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sugar_tr,PatternScan_SUGAR_TRANSPORT_2,superfamily_MFS general substrate transporter KIAA1467 57613 genome.wustl.edu 37 12 13220110 13220110 + Missense_Mutation SNP T T C novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_020853.1 +1 validated p.L341P 1.000 86 0% 69 10.1% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DERA 51071 genome.wustl.edu 37 12 16115839 16115839 + Missense_Mutation SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_015954.2 +1 validated p.V156M 0.999 207 0% 213 27.2% 33 45.4% possibly_damaging(0.502) tolerated(0.46) neutral(0.180) HMMPfam_DeoC,superfamily_SSF51569 KIAA0528 9847 genome.wustl.edu 37 12 22676470 22676470 + Silent SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_014802.1 -1 predicted p.G230 1.000 116 0% 116 36.2% 7 0% - - - NULL KRT8 3856 genome.wustl.edu 37 12 53291335 53291335 + Silent SNP A A G novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_002273.3 -1 reviewed p.F443 0.747 25 0% 41 24.4% 2401 48.2% - - - NULL CS 1431 genome.wustl.edu 37 12 56676236 56676236 + Missense_Mutation SNP C C T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_004077.2 -1 reviewed p.A186T 1.000 81 0% 89 25.8% 136 41.1% benign(0) tolerated(0.23) neutral(0.042) HMMPfam_Citrate_synt,superfamily_Citrate_synthase_core NACA 4666 genome.wustl.edu 37 12 57113428 57113428 + Missense_Mutation SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_001113203.1 -1 validated p.P629L 0.976 81 0% 75 42.7% 0 - unknown(0) - - NULL TRHDE 29953 genome.wustl.edu 37 12 72893384 72893384 + Missense_Mutation SNP A A T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_013381.2 +1 reviewed p.D519V 1.000 163 0% 147 27.2% 0 - possibly_damaging(0.951) tolerated(0.08) deleterious(0.694) HMMPfam_Peptidase_M1,superfamily_SSF55486 SACS 26278 genome.wustl.edu 37 13 23939315 23939315 + Silent SNP C C T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 ENST00000455470 -1 known p.A49T 0.048 230 0% 180 19.4% 1 0% - - - superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase PDS5B 23047 genome.wustl.edu 37 13 33258137 33258137 + Nonsense_Mutation SNP A A T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_015032.3 +1 reviewed p.R394* 1.000 171 0% 181 23.8% 5 0% - - - HMMPfam_HEAT,superfamily_ARM repeat ABHD4 63874 genome.wustl.edu 37 14 23072420 23072420 + Missense_Mutation SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_022060.2 +1 validated p.G80S 1.000 47 0% 47 40.4% 25 52% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_SSF53474 PRKD1 5587 genome.wustl.edu 37 14 30135303 30135303 + Missense_Mutation SNP C C T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_002742.2 -1 validated p.R172H 1.000 130 0% 123 36.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_C1_1,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,superfamily_SSF57889 TTC7B 145567 genome.wustl.edu 37 14 91059856 91059856 + Missense_Mutation SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_001010854.1 -1 provisional p.T694M 1.000 44 0% 35 40% 14 14.2% probably_damaging(1) tolerated(0.21) deleterious(0.544) superfamily_TPR-like TJP1 7082 genome.wustl.edu 37 15 30018600 30018600 + Missense_Mutation SNP A A G novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_003257.3 -1 validated p.W799R 0.999 183 0% 163 27% 11 18.1% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Gua_kin_assoc_C,superfamily_P-loop containing nucleoside triphosphate hydrolases TRIP4 9325 genome.wustl.edu 37 15 64687693 64687693 + Missense_Mutation SNP C C T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_016213.3 +1 validated p.T123M 0.000 154 0% 128 30.5% 22 36.3% benign(0.026) tolerated(0.1) neutral(0.287) NULL SH3GL3 6457 genome.wustl.edu 37 15 84286952 84286952 + Missense_Mutation SNP T T A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_003027.3 +1 validated p.D319E 1.000 73 0% 81 25.9% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain NMB 4828 genome.wustl.edu 37 15 85198625 85198625 + Missense_Mutation SNP C C T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_205858.1 -1 validated p.G114D 0.141 111 0% 107 29.9% 20 20% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL XPO6 23214 genome.wustl.edu 37 16 28117748 28117748 + Silent SNP A A G novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_015171.2 -1 provisional p.P856 1.000 211 0% 172 33.1% 86 41.8% - - - superfamily_ARM repeat ATXN2L 11273 genome.wustl.edu 37 16 28846988 28846988 + Missense_Mutation SNP C C A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_148414.1 +1 reviewed p.P935H 1.000 33 0% 27 25.9% 114 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DHX38 9785 genome.wustl.edu 37 16 72137671 72137671 + Missense_Mutation SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_014003.3 +1 reviewed p.G603E 0.995 79 0% 58 24.1% 27 18.5% benign(0.025) deleterious(0.04) neutral(0.350) HMMSmart_DEXDc,superfamily_SSF52540 CMIP 80790 genome.wustl.edu 37 16 81641294 81641294 + Silent SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_198390.2 +1 validated p.L141 1.000 52 0% 50 32% 15 26.6% - - - superfamily_PH domain-like NLRP1 22861 genome.wustl.edu 37 17 5418368 5418368 + Silent SNP C C T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_033004.3 -1 reviewed p.P1376 0.000 52 0% 45 15.6% 4 0% - - - superfamily_DEATH domain TNFSF12 8742 genome.wustl.edu 37 17 7460486 7460486 + Missense_Mutation SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_003809.2 +1 reviewed p.R190H 1.000 46 0% 63 23.8% 69 14.4% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_TNF,HMMSmart_SM00207,superfamily_TNF-like SLC13A2 9058 genome.wustl.edu 37 17 26821491 26821491 + Frame_Shift_Del DEL A A - novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_003984.3 +1 validated p.L423fs 0.955 - - - - - - - - - HMMPfam_Na_sulph_symp FLOT2 2319 genome.wustl.edu 37 17 27208261 27208261 + Silent SNP C C T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_004475.2 -1 reviewed p.Q349 1.000 46 0% 70 15.7% 149 37.5% - - - NULL SEZ6 124925 genome.wustl.edu 37 17 27308668 27308668 + Missense_Mutation SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_178860.4 -1 validated p.L149F 0.076 77 0% 42 19% 0 - probably_damaging(0.998) tolerated(0.12) deleterious(0.735) NULL KRTAP9-3 83900 genome.wustl.edu 37 17 39388981 39388981 + Silent SNP T T C novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_031962.2 +1 reviewed p.C76 0.014 165 0% 133 14.3% 0 - - - - HMMPfam_Keratin_B2 KRT35 3886 genome.wustl.edu 37 17 39635117 39635117 + Missense_Mutation SNP C C T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_002280.4 -1 reviewed p.R281H 0.961 44 0% 63 30.2% 0 - possibly_damaging(0.496) tolerated(0.06) deleterious(0.488) superfamily_Prefoldin,HMMPfam_Filament DDX42 11325 genome.wustl.edu 37 17 61864495 61864495 + Missense_Mutation SNP C C G novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_007372.2 +1 reviewed p.P29R 1.000 138 0% 128 28.9% 27 51.8% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL KIF19 124602 genome.wustl.edu 37 17 72349652 72349652 + Missense_Mutation SNP T T C novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_153209.3 +1 validated p.L747P 1.000 35 0% 51 15.7% 0 - probably_damaging(0.954) deleterious(0) deleterious(0.842) NULL RAB3D 9545 genome.wustl.edu 37 19 11447998 11447998 + Silent SNP T T G novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_004283.3 -1 validated p.L26 0.171 101 0% 101 23.8% 56 44.6% - - - HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 LOC100289566 100289566 genome.wustl.edu 37 19 15061191 15061191 + Nonsense_Mutation SNP C C T rs180857252 by1000genomes TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 XM_002343627.1 +1 model p.R16* 0.997 47 0% 54 42.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PIK3R2 5296 genome.wustl.edu 37 19 18273793 18273793 + Missense_Mutation SNP A A G novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_005027.2 +1 validated p.K376E 1.000 76 0% 76 25% 42 47.6% probably_damaging(0.958) deleterious(0) deleterious(0.846) HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain ZNF569 148266 genome.wustl.edu 37 19 37904093 37904093 + Silent SNP A A G novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_152484.2 -1 validated p.S489 1.000 195 0% 162 30.9% 2 0% - - - superfamily_C2H2 and C2HC zinc fingers PAPL 390928 genome.wustl.edu 37 19 39589266 39589266 + Missense_Mutation SNP C C T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_001004318.2 +1 validated p.T97M 0.207 38 0% 39 25.6% 0 - probably_damaging(0.973) tolerated(0.13) deleterious(0.667) superfamily_Purple_Pase_N CYP2A6 1548 genome.wustl.edu 37 19 41354666 41354666 + Missense_Mutation SNP C C T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_000762.5 -1 reviewed p.V116M 0.001 12 0% 14 35.7% 0 - probably_damaging(0.964) deleterious(0.02) deleterious(0.789) HMMPfam_p450,superfamily_Cytochrome P450 LIPE 3991 genome.wustl.edu 37 19 42911468 42911468 + Silent SNP G G T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_005357.2 -1 reviewed p.P665 1.000 38 0% 40 37.5% 1 0% - - - HMMPfam_Abhydrolase_3,superfamily_alpha/beta-Hydrolases SYMPK 8189 genome.wustl.edu 37 19 46334652 46334652 + Missense_Mutation SNP T T C novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_004819.2 -1 reviewed p.T530A 0.992 54 0% 50 34% 57 40.3% possibly_damaging(0.642) tolerated(0.5) neutral(0.235) superfamily_ARM repeat DHX34 9704 genome.wustl.edu 37 19 47876077 47876077 + Missense_Mutation SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_014681.5 +1 reviewed p.R620H 1.000 7 0.000 19 0.579 8 50% probably_damaging(0.995) tolerated(0.06) deleterious(0.780) HMMPfam_HA2,superfamily_P-loop containing nucleoside triphosphate hydrolases PTOV1 53635 genome.wustl.edu 37 19 50358132 50358132 + Missense_Mutation SNP C C T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_017432.3 +1 provisional p.P146L 1.000 33 0% 27 40.7% 185 32.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZNF471 57573 genome.wustl.edu 37 19 57029948 57029948 + Splice_Site SNP T T C novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_020813.2 +1 validated e3+2 0.456 197 0% 181 25.4% 0 - - - - - TBC1D20 128637 genome.wustl.edu 37 20 428590 428590 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_144628.2 -1 validated p.R67* 0.000 111 0% 133 32.3% 23 17.3% - - - HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p SIRPG 55423 genome.wustl.edu 37 20 1629827 1629827 + Missense_Mutation SNP C C A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_018556.3 -1 reviewed p.D101Y 0.717 534 0% 478 28.9% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin TGM6 343641 genome.wustl.edu 37 20 2380983 2380983 + Silent SNP C C T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_198994.2 +1 validated p.V294 0.016 45 0% 62 33.9% 0 - - - - HMMPfam_Transglut_core,HMMSmart_SM00460,superfamily_Cysteine proteinases ADA 100 genome.wustl.edu 37 20 43251282 43251282 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_000022.2 -1 reviewed p.W264* 1.000 79 1.3% 65 29.2% 7 0% - - - HMMPfam_A_deaminase,superfamily_SSF51556 CBLN4 140689 genome.wustl.edu 37 20 54579189 54579189 + Silent SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_080617.4 -1 reviewed p.A13 0.507 18 0% 22 22.7% 0 - - - - NULL DSCAM 1826 genome.wustl.edu 37 21 41450624 41450624 + Missense_Mutation SNP G G T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_001389.3 -1 validated p.N1567K 1.000 74 0% 77 36.4% 0 - benign(0.208) tolerated(0.05) neutral(0.365) NULL DSCAM 1826 genome.wustl.edu 37 21 41505884 41505884 + Silent SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_001389.3 -1 validated p.D1153 0.193 141 0% 124 26.6% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III SGSM1 129049 genome.wustl.edu 37 22 25294031 25294031 + Silent SNP C C T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_001039948.2 +1 validated p.N760 0.463 81 0% 75 28% 0 - - - - superfamily_Ypt/Rab-GAP domain of gyp1p NUP50 10762 genome.wustl.edu 37 22 45580486 45580486 + Nonsense_Mutation SNP G G T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_007172.3 +1 reviewed p.E453* 1.000 108 0% 91 29.7% 20 30% - - - HMMPfam_Ran_BP1,HMMSmart_SM00160,superfamily_PH domain-like WWC3 55841 genome.wustl.edu 37 X 10085322 10085322 + Missense_Mutation SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_015691.3 +1 validated p.S408N 0.990 23 0% 31 29% 9 55.5% benign(0.007) tolerated(1) - NULL AMELX 265 genome.wustl.edu 37 X 11316222 11316222 + Splice_Site SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_182680.1 +1 reviewed e3-1 0.510 375 0% 333 29.1% 0 - - - - - DDX53 168400 genome.wustl.edu 37 X 23018206 23018206 + Missense_Mutation SNP C C T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_182699.2 +1 validated p.A11V 0.000 64 0% 72 29.2% 0 - probably_damaging(0.991) tolerated(0.06) deleterious(0.766) NULL CXorf58 254158 genome.wustl.edu 37 X 23934436 23934436 + Silent SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 ENST00000435707 +1 known p.V112I 0.219 256 0% 217 21.2% 0 - - - - NULL DMD 1756 genome.wustl.edu 37 X 32827692 32827692 + Missense_Mutation SNP C C A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_004006.2 -1 reviewed p.Q189H 1.000 128 0% 126 31% 4 0% possibly_damaging(0.879) deleterious(0.01) deleterious(0.748) HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain PAGE1 8712 genome.wustl.edu 37 X 49455895 49455895 + Missense_Mutation SNP C C A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_003785.3 -1 reviewed p.R83S 0.000 267 0% 238 30.7% 5 100% benign(0.154) - - HMMPfam_GAGE SLC7A3 84889 genome.wustl.edu 37 X 70145749 70145749 + Frame_Shift_Del DEL C C - novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_001048164.2 -1 reviewed p.E592fs 0.790 - - - - - - - - - NULL CT47B1 643311 genome.wustl.edu 37 X 120009295 120009295 + Missense_Mutation SNP T T C novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_001145718.1 -1 validated p.Q77R 0.000 28 0% 25 40% 0 - benign(0) tolerated(0.59) neutral(0.004) NULL GRIA3 2892 genome.wustl.edu 37 X 122561820 122561820 + Missense_Mutation SNP G G T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 ENST00000264357 +1 known p.V636F 1.000 264 0.4% 276 29.7% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_Lig_chan,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II ODZ1 10178 genome.wustl.edu 37 X 123514956 123514956 + Silent SNP T T C novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_014253.3 -1 reviewed p.T2536 0.985 82 0% 68 39.7% 0 - - - - NULL LOC100130935 100130935 genome.wustl.edu 37 X 151896348 151896348 + Missense_Mutation SNP A A T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 XM_001721280.1 -1 model p.L89M 0.002 420 0% 378 35.2% 0 - - - - NULL HCFC1 3054 genome.wustl.edu 37 X 153223662 153223662 + Silent SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_005334.2 -1 reviewed p.A614 0.029 71 0% 86 36% 13 0% - - - NULL PLXNA3 55558 genome.wustl.edu 37 X 153692557 153692557 + Missense_Mutation SNP G G A novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_017514.3 +1 reviewed p.E577K 1.000 34 0% 22 54.5% 16 0% possibly_damaging(0.527) tolerated(0.25) neutral(0.215) NULL IKBKG 8517 genome.wustl.edu 37 X 153780301 153780301 + Silent SNP C C T novel TCGA-BS-A0U7-01A-21D-A10B-09 TCGA-BS-A0U7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0b1feb5-a21e-4b17-8147-be3bbb065388 ab2818bc-31ea-4038-baed-894db8f38ad8 NM_001099856.2 +1 reviewed p.G96 0.092 53 0% 59 33.9% 34 0% - - - NULL