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 RERE 473 genome.wustl.edu 37 1 8418717 8418717 + Missense_Mutation SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001042681.1 -1 reviewed p.Y1293C 1.000 5 0.000 34 0.235 47 19.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Atrophin-1 ENO1 2023 genome.wustl.edu 37 1 8925448 8925448 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001428.2 -1 reviewed p.S254F 0.152 55 0% 74 43.2% 1496 42.9% benign(0.181) deleterious(0) neutral(0.461) HMMPfam_Enolase_C,superfamily_Enolase C-terminal domain-like CASZ1 54897 genome.wustl.edu 37 1 10713893 10713893 + Missense_Mutation SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001079843.1 -1 validated p.S741P 1.000 21 0% 20 25% 12 25% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL MTOR 2475 genome.wustl.edu 37 1 11276257 11276257 + Missense_Mutation SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_004958.3 -1 reviewed p.F1022S 1.000 115 0% 208 35.6% 8 50% benign(0.062) deleterious(0) neutral(0.449) superfamily_ARM-type_fold TMCO4 255104 genome.wustl.edu 37 1 20027307 20027307 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_181719.4 -1 validated p.P446S 1.000 38 0% 58 15.5% 29 27.5% benign(0.012) tolerated(0.7) neutral(0.003) HMMPfam_DUF726 EIF4G3 8672 genome.wustl.edu 37 1 21268168 21268168 + Silent SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_003760.3 -1 validated p.T437 0.003 236 0% 362 11.3% 11 9% - - - NULL ARID1A 8289 genome.wustl.edu 37 1 27097810 27097810 + Silent SNP C C A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_006015.4 +1 reviewed p.P1133 0.997 92 0% 111 21.6% 7 0% - - - NULL FAM167B 84734 genome.wustl.edu 37 1 32713148 32713148 + Silent SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_032648.2 +1 validated p.S42 0.492 14 0% 44 36.4% 7 0% - - - NULL CSMD2 114784 genome.wustl.edu 37 1 34238182 34238182 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_052896.3 -1 validated p.P572S 1.000 69 1.4% 101 35.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Spermadhesin CUB domain,superfamily_Complement control module/SCR domain PPT1 5538 genome.wustl.edu 37 1 40557771 40557771 + Missense_Mutation SNP G G T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_000310.3 -1 reviewed p.P103H 1.000 238 0% 358 14% 36 13.8% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_Palm_thioest,superfamily_alpha/beta-Hydrolases IPO13 9670 genome.wustl.edu 37 1 44433315 44433315 + Silent SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_014652.3 +1 reviewed p.C951 1.000 26 0% 84 15.5% 49 14.2% - - - NULL TTC39A 22996 genome.wustl.edu 37 1 51777814 51777814 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001144832.1 -1 validated p.P115L 0.089 83 0% 199 17.1% 23 26% possibly_damaging(0.679) tolerated(0.28) neutral(0.273) HMMPfam_Deme6 INADL 10207 genome.wustl.edu 37 1 62367102 62367102 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_176877.2 +1 reviewed p.A1118T 0.798 343 0% 438 16.9% 18 0% possibly_damaging(0.755) tolerated(0.64) neutral(0.282) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like ANKRD13C 81573 genome.wustl.edu 37 1 70766538 70766538 + Missense_Mutation SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_030816.4 -1 validated p.L277P 0.999 129 0% 215 17.2% 1 0% probably_damaging(0.989) tolerated(0.14) deleterious(0.689) NULL ST6GALNAC3 256435 genome.wustl.edu 37 1 77093212 77093212 + Silent SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_152996.2 +1 validated p.H233 0.988 291 0% 419 20.5% 0 - - - - HMMPfam_Glyco_transf_29 CLCA1 1179 genome.wustl.edu 37 1 86939116 86939116 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001285.3 +1 reviewed p.A60V 0.995 66 0% 70 34.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CLCA_N ZNF644 84146 genome.wustl.edu 37 1 91404598 91404604 + Frame_Shift_Del DEL AGAATTT AGAATTT - novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 AGAATTT AGAATTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_201269.1 -1 validated p.L769fs 0.998:1.000:1.000:0.999:0.997:0.973:0.150 - - - - - - - - - NULL GLMN 11146 genome.wustl.edu 37 1 92737098 92737101 + Frame_Shift_Del DEL CTAA CTAA - novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 CTAA CTAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_053274.2 -1 reviewed p.L282fs 0.987:0.897:0.885:0.740 - - - - - - - - - HMMPfam_FKBP12 DNTTIP2 30836 genome.wustl.edu 37 1 94342444 94342444 + Silent SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_014597.3 -1 provisional p.S349 0.015 372 0% 323 18.9% 19 10.5% - - - NULL ARHGAP29 9411 genome.wustl.edu 37 1 94650988 94650988 + Silent SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_004815.3 -1 validated p.A610 0.991 419 0% 555 15.7% 5 20% - - - superfamily_Cysteine-rich domain GSTM1 2944 genome.wustl.edu 37 1 110231873 110231873 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_000561.3 +1 reviewed p.R96C 1.000 534 0% 651 39.2% 81 33.3% possibly_damaging(0.812) deleterious(0) deleterious(0.750) superfamily_Glutathione S-transferase (GST) C-terminal domain CHI3L2 1117 genome.wustl.edu 37 1 111772498 111772498 + Missense_Mutation SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_004000.2 +1 validated p.Q22R 0.314 329 0% 687 37.7% 1 100% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL OLFML3 56944 genome.wustl.edu 37 1 114523056 114523056 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_020190.2 +1 validated p.R73W 1.000 155 0% 198 14.1% 22 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL SPAG17 200162 genome.wustl.edu 37 1 118523990 118523990 + Silent SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_206996.2 -1 validated p.S1969 0.000 327 0% 344 14.8% 1 0% - - - NULL VPS45 11311 genome.wustl.edu 37 1 150064115 150064115 + Nonsense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_007259.3 +1 reviewed p.R397* 1.000 100 0% 196 12.2% 28 3.5% - - - HMMPfam_Sec1,superfamily_Sec1/munc18-like (SM) proteins ECM1 1893 genome.wustl.edu 37 1 150485839 150485839 + Missense_Mutation SNP G G T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_004425.3 +1 reviewed p.V507L 0.946 64 0% 79 24.1% 15 0% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_ECM1 SETDB1 9869 genome.wustl.edu 37 1 150933087 150933087 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001145415.1 +1 reviewed p.G850D 1.000 139 0% 346 58.4% 17 70.5% probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain FLG 2312 genome.wustl.edu 37 1 152281254 152281254 + Silent SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_002016.1 -1 reviewed p.H2036 0.000 215 0% 182 28.6% 0 - - - - HMMPfam_Filaggrin KPRP 448834 genome.wustl.edu 37 1 152733550 152733550 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001025231.1 +1 provisional p.R496C 0.000 58 0% 86 16.3% 0 - benign(0.002) deleterious(0.02) neutral(0.383) NULL LCE1B 353132 genome.wustl.edu 37 1 152785240 152785240 + Silent SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_178349.1 +1 validated p.C106 0.965 84 0% 127 11% 0 - - - - NULL SPRR2E 6704 genome.wustl.edu 37 1 153066122 153066122 + Missense_Mutation SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001024209.2 -1 validated p.C36R 0.002 674 0% 1215 22.2% 0 - unknown(0) - - NULL FDPS 2224 genome.wustl.edu 37 1 155279838 155279838 + Missense_Mutation SNP C C A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001135821.1 +1 reviewed p.L61I 0.621 69 0% 127 21.3% 54 40.7% benign(0.119) tolerated(0.11) neutral(0.281) NULL ARHGEF2 9181 genome.wustl.edu 37 1 155934898 155934898 + Missense_Mutation SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_004723.3 -1 validated p.M174T 1.000 133 0% 284 10.2% 49 12.2% possibly_damaging(0.906) tolerated(0.33) neutral(0.384) NULL PEAR1 375033 genome.wustl.edu 37 1 156880074 156880074 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001080471.1 +1 provisional p.C576Y 1.000 59 0% 61 23% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,HMMSmart_EGF ARHGEF11 9826 genome.wustl.edu 37 1 156937810 156937810 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_198236.1 -1 reviewed p.S311L 0.991 39 0% 78 17.9% 8 0% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) NULL OR6K2 81448 genome.wustl.edu 37 1 158669499 158669499 + Missense_Mutation SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001005279.1 -1 provisional p.V315A 0.000 272 0.4% 394 26.6% 0 - benign(0.003) deleterious(0.02) neutral(0.383) NULL DARC 2532 genome.wustl.edu 37 1 159175785 159175785 + Missense_Mutation SNP C C A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001122951.1 +1 reviewed p.L188M 0.736 43 0% 86 16.3% 21 0% probably_damaging(0.993) deleterious(0) deleterious(0.895) NULL DEDD 9191 genome.wustl.edu 37 1 161094034 161094034 + Silent SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001039711.1 -1 reviewed p.R73 1.000 171 0.6% 386 14.8% 69 21.7% - - - HMMPfam_DED,HMMSmart_SM00031,superfamily_DEATH domain USP21 27005 genome.wustl.edu 37 1 161130674 161130674 + Missense_Mutation SNP C C A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001014443.2 +1 reviewed p.L82I 0.952 47 0% 89 30.3% 23 39.1% possibly_damaging(0.936) tolerated(0.06) deleterious(0.704) NULL FAM129A 116496 genome.wustl.edu 37 1 184767326 184767326 + Splice_Site SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_052966.2 -1 validated e13-2 1.000 235 0% 399 10.8% 0 - - - - - CACNA1S 779 genome.wustl.edu 37 1 201030417 201030417 + Missense_Mutation SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_000069.2 -1 reviewed p.N1078S 1.000 253 0% 226 19.9% 0 - possibly_damaging(0.591) deleterious(0.04) deleterious(0.553) NULL MYOG 4656 genome.wustl.edu 37 1 203054721 203054721 + Silent SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_002479.4 -1 reviewed p.R123 1.000 38 0% 81 11.1% 0 - - - - HMMPfam_HLH,HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain CHI3L1 1116 genome.wustl.edu 37 1 203148973 203148973 + Silent SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 ENST00000404436 -1 known p.*78Q 0.000 164 0% 267 24.3% 389 37.5% - - - HMMPfam_Glyco_hydro_18,HMMSmart_SM00636,superfamily_(Trans)glycosidases IL24 11009 genome.wustl.edu 37 1 207074974 207074974 + Missense_Mutation SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_006850.2 +1 reviewed p.I147V 0.376 58 0% 219 26% 0 - probably_damaging(0.971) tolerated(0.09) deleterious(0.710) superfamily_4_helix_cytokine PIGR 5284 genome.wustl.edu 37 1 207105900 207105900 + Missense_Mutation SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_002644.3 -1 reviewed p.S637P 0.567 83 0% 69 15.9% 828 2.1% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL HSD11B1 3290 genome.wustl.edu 37 1 209878261 209878261 + Splice_Site SNP G G T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_181755.1 +1 reviewed e1-1 0.984 136 0% 261 29.1% 0 - - - - - TRAF3IP3 80342 genome.wustl.edu 37 1 209953941 209953941 + Missense_Mutation SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_025228.2 +1 reviewed p.K460R 1.000 213 0% 219 26% 2 0% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL RPS6KC1 26750 genome.wustl.edu 37 1 213414091 213414091 + Silent SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_012424.3 +1 validated p.P424 0.733 153 0% 145 29.7% 2 0% - - - NULL TP53BP2 7159 genome.wustl.edu 37 1 223984065 223984065 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001031685.2 -1 reviewed p.A726T 1.000 268 0% 479 18.6% 17 11.7% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL LBR 3930 genome.wustl.edu 37 1 225592123 225592123 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_002296.2 -1 reviewed p.A557V 1.000 143 0% 293 32.4% 12 16.6% probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMPfam_ERG4_ERG24 EPHX1 2052 genome.wustl.edu 37 1 226026455 226026455 + Silent SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_000120.3 +1 reviewed p.Y155 0.847 73 0% 136 28.7% 962 30.9% - - - HMMPfam_EHN,superfamily_SSF53474 WNT9A 7483 genome.wustl.edu 37 1 228112072 228112072 + Missense_Mutation SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_003395.2 -1 validated p.I128V 1.000 14 0% 30 30% 7 57.1% possibly_damaging(0.869) tolerated(0.23) neutral(0.379) HMMPfam_wnt,HMMSmart_WNT1 C1orf124 83932 genome.wustl.edu 37 1 231487083 231487083 + Missense_Mutation SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_032018.4 +1 validated p.Y162H 1.000 77 0% 131 16% 9 0% benign(0.227) tolerated(0.11) neutral(0.294) HMMSmart_SM00731,HMMPfam_SprT-like SIPA1L2 57568 genome.wustl.edu 37 1 232650878 232650878 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_020808.3 -1 validated p.A70T 1.000 122 0% 197 14.2% 6 0% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL RYR2 6262 genome.wustl.edu 37 1 237754034 237754034 + Missense_Mutation SNP T T A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001035.2 +1 reviewed p.F1301Y 1.000 265 0% 415 52.3% 0 - benign(0.002) - - NULL OR14A16 284532 genome.wustl.edu 37 1 247978792 247978792 + Silent SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001001966.1 -1 provisional p.I80 0.000 198 0% 522 13.8% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 TPO 7173 genome.wustl.edu 37 2 1491694 1491694 + Silent SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_000547.5 +1 reviewed p.L567 0.631 42 0% 86 32.6% 0 - - - - HMMPfam_An_peroxidase,superfamily_Heme-dependent peroxidases GREB1 9687 genome.wustl.edu 37 2 11738969 11738969 + Silent SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_014668.3 +1 reviewed p.A772 0.794 271 0% 308 20.5% 2 0% - - - NULL PUM2 23369 genome.wustl.edu 37 2 20460179 20460179 + Missense_Mutation SNP C C A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_015317.1 -1 provisional p.M758I 1.000 177 0% 231 22.1% 15 46.6% benign(0.002) tolerated(0.13) neutral(0.253) HMMPfam_PUF,HMMSmart_SM00025,superfamily_ARM repeat C2orf84 653140 genome.wustl.edu 37 2 24413297 24413297 + Missense_Mutation SNP T T G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001040710.1 +1 predicted p.Y140D 0.010 50 0% 56 37.5% 0 - benign(0.076) deleterious(0.03) neutral(0.370) NULL CAD 790 genome.wustl.edu 37 2 27465263 27465263 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_004341.3 +1 reviewed p.R2064C 1.000 24 0% 35 37.1% 51 43.1% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Asp/Orn_carbamoyltranf,HMMPfam_OTCace_N C2orf16 84226 genome.wustl.edu 37 2 27802765 27802765 + Missense_Mutation SNP C C A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_032266.3 +1 validated p.P1109H 0.999 87 0% 120 18.3% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL LBH 81606 genome.wustl.edu 37 2 30480481 30480481 + Silent SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_030915.3 +1 validated p.E104 1.000 36 0% 55 30.9% 25 32% - - - NULL BIRC6 57448 genome.wustl.edu 37 2 32613983 32613983 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_016252.3 +1 reviewed p.G271R 1.000 208 0% 243 39.5% 4 50% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL MSH6 2956 genome.wustl.edu 37 2 48026240 48026240 + Missense_Mutation SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_000179.2 +1 reviewed p.L373P 1.000 249 0% 330 12.1% 8 12.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL EML6 400954 genome.wustl.edu 37 2 55189824 55189824 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001039753.2 +1 validated p.R1712W 1.000 47 0% 55 12.7% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,HMMPfam_WD40 CCDC104 112942 genome.wustl.edu 37 2 55772050 55772050 + Missense_Mutation SNP C C A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_080667.5 +1 validated p.T312K 1.000 141 0% 162 26.5% 54 35.1% possibly_damaging(0.905) tolerated(0.1) deleterious(0.646) NULL MOGS 7841 genome.wustl.edu 37 2 74689172 74689172 + Silent SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_006302.2 -1 reviewed p.L582 0.991 78 0% 108 18.5% 64 12.5% - - - HMMPfam_Glyco_hydro_63,superfamily_Six-hairpin glycosidases DNAH6 1768 genome.wustl.edu 37 2 84834108 84834110 + In_Frame_Del DEL TGA TGA - novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 TGA TGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001370.1 +1 validated p.D1063in_frame_del 0.971:1.000:1.000 - - - - - - - - - HMMPfam_DHC_N2 LINC00152 112597 genome.wustl.edu 37 2 87820924 87820924 + RNA SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NR_024204.1 +1 validated NULL 0.004 177 0% 252 31.3% 34 32.3% - - - - ARID5A 10865 genome.wustl.edu 37 2 97215532 97215532 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_212481.1 +1 validated p.A101V 1.000 13 0% 25 40% 25 40% probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMPfam_ARID,HMMSmart_SM00501,superfamily_ARID-like TSGA10 80705 genome.wustl.edu 37 2 99685396 99685396 + Silent SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_025244.2 -1 validated p.D391 0.802 515 0% 354 18.9% 1 100% - - - NULL POLR1B 84172 genome.wustl.edu 37 2 113304686 113304686 + Missense_Mutation SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_019014.4 +1 validated p.I92T 1.000 196 0% 197 34% 4 0% benign(0.032) deleterious(0.01) neutral(0.407) HMMPfam_RNA_pol_Rpb2_1,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase TFCP2L1 29842 genome.wustl.edu 37 2 122007162 122007162 + Silent SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_014553.2 -1 validated p.N92 0.995 113 0% 115 10.4% 5 0% - - - HMMPfam_CP2 LRP2 4036 genome.wustl.edu 37 2 170038733 170038733 + Silent SNP G G T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_004525.2 -1 reviewed p.A3314 1.000 156 0% 155 18.7% 0 - - - - HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 LRP2 4036 genome.wustl.edu 37 2 170044631 170044631 + Silent SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_004525.2 -1 reviewed p.D3059 0.721 194 0% 306 20.3% 0 - - - - HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_LDL_rcpt_classA_cys-rich NFE2L2 4780 genome.wustl.edu 37 2 178098803 178098803 + Splice_Site SNP C C A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 ENST00000449627 -1 known e1+1 1.000 356 0% 375 40.5% 39 43.5% - - - - TTN 7273 genome.wustl.edu 37 2 179443925 179443925 + Missense_Mutation SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 ENST00000356127 -1 known p.Y20041C 0.968 100 0% 131 19.1% 0 - benign(0.092) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179595380 179595380 + Silent SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 ENST00000356127 -1 known p.S4716 0.906 111 0% 183 35% 0 - - - - HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set GTF3C3 9330 genome.wustl.edu 37 2 197657762 197657764 + In_Frame_Del DEL TCC TCC - novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_012086.2 -1 provisional p.E111in_frame_del 0.984:0.986:0.955 - - - - - - - - - NULL SATB2 23314 genome.wustl.edu 37 2 200213657 200213657 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_015265.3 -1 reviewed p.A314T 1.000 433 0% 412 29.1% 2 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL PIKFYVE 200576 genome.wustl.edu 37 2 209177007 209177007 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_015040.3 +1 reviewed p.A562T 1.000 487 0.4% 720 36.4% 2 0% probably_damaging(1) tolerated(0.32) deleterious(0.524) NULL FN1 2335 genome.wustl.edu 37 2 216229670 216229670 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_212482.1 -1 reviewed p.V2395I 1.000 103 0% 175 24.6% 175 0.5% benign(0.249) tolerated(0.2) neutral(0.074) HMMPfam_fn1,HMMSmart_SM00058,PatternScan_FN1_1,superfamily_Fibronectin type I module DIS3L2 129563 genome.wustl.edu 37 2 233195460 233195460 + Missense_Mutation SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_152383.4 +1 validated p.T662A 1.000 45 0% 27 14.8% 28 10.7% benign(0.378) deleterious(0.04) deleterious(0.469) HMMPfam_RNB DGKD 8527 genome.wustl.edu 37 2 234358645 234358645 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_152879.2 +1 reviewed p.A636T 1.000 17 0% 16 50% 3 33.3% possibly_damaging(0.804) tolerated(0.23) neutral(0.344) NULL HDLBP 3069 genome.wustl.edu 37 2 242182033 242182033 + Missense_Mutation SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_005336.3 -1 validated p.T671A 0.899 54 0% 98 27.6% 188 50% benign(0) tolerated(0.52) neutral(0.009) HMMSmart_KH,HMMPfam_KH_1,superfamily_SSF54791 CHL1 10752 genome.wustl.edu 37 3 405039 405039 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_006614.2 +1 reviewed p.A520T 0.895 288 0% 568 23.8% 0 - benign(0.327) tolerated(0.3) neutral(0.131) HMMSmart_SM00409,superfamily_Immunoglobulin MTMR14 64419 genome.wustl.edu 37 3 9729564 9729564 + Silent SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001077525.2 +1 reviewed p.L408 1.000 69 0% 109 48.6% 32 62.5% - - - superfamily_(Phosphotyrosine protein) phosphatases II C3orf19 51244 genome.wustl.edu 37 3 14711469 14711469 + Silent SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_016474.4 +1 validated p.P327 0.091 89 0% 158 12% 24 8.3% - - - NULL NR2C2 7182 genome.wustl.edu 37 3 15080689 15080689 + Missense_Mutation SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_003298.3 +1 validated p.E543G 1.000 109 0% 218 12.4% 6 16.6% probably_damaging(0.999) tolerated(0.05) deleterious(0.836) HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain LOC100131542 100131542 genome.wustl.edu 37 3 25831314 25831314 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 XM_001716831.1 +1 model p.P156S 0.000 138 0% 210 23.8% 0 - - - - NULL ZNF860 344787 genome.wustl.edu 37 3 32031357 32031357 + Silent SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001137674.1 +1 provisional p.V262 0.503 275 0% 531 13% 2 50% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 GOLGA4 2803 genome.wustl.edu 37 3 37357056 37357056 + Silent SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_002078.4 +1 reviewed p.S460 0.988 409 0% 672 24% 2 0% - - - NULL SLC22A14 9389 genome.wustl.edu 37 3 38355332 38355332 + Silent SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_004803.3 +1 validated p.C426 0.004 147 0% 254 18.9% 0 - - - - HMMPfam_MFS_1,superfamily_MFS general substrate transporter SCN10A 6336 genome.wustl.edu 37 3 38791625 38791625 + Silent SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_006514.2 -1 validated p.D602 0.934 146 0% 271 15.9% 0 - - - - NULL CSRNP1 64651 genome.wustl.edu 37 3 39186630 39186630 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_033027.3 -1 reviewed p.G108D 1.000 44 0% 75 48% 8 62.5% probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL NBEAL2 23218 genome.wustl.edu 37 3 47042546 47042546 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_015175.1 +1 validated p.T1454M 0.999 28 0% 18 22.2% 12 41.6% benign(0.389) tolerated(0.72) neutral(0.126) NULL BSN 8927 genome.wustl.edu 37 3 49701929 49701929 + Silent SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_003458.3 +1 reviewed p.S3894 0.947 11 0% 28 21.4% 0 - - - - NULL RNF123 63891 genome.wustl.edu 37 3 49740922 49740922 + Missense_Mutation SNP C C A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_022064.2 +1 reviewed p.L605M 1.000 22 0% 52 26.9% 10 30% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL VPRBP 9730 genome.wustl.edu 37 3 51449845 51449845 + Missense_Mutation SNP T T A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_014703.2 -1 validated p.E1347D 0.977 230 0% 598 11.9% 39 15.3% unknown(0) tolerated(0.45) - NULL IQCF2 389123 genome.wustl.edu 37 3 51897001 51897001 + Splice_Site SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_203424.1 +1 validated e3-2 0.018 44 0% 70 21.4% 0 - - - - - PARP3 10039 genome.wustl.edu 37 3 51981887 51981887 + Missense_Mutation SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001003931.2 +1 reviewed p.I477V 0.986 60 0% 270 15.6% 32 9.3% benign(0.001) tolerated(0.97) - HMMPfam_PARP,superfamily_SSF56399 DUSP7 1849 genome.wustl.edu 37 3 52084847 52084847 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001947.3 -1 validated p.T364M 0.997 81 0% 70 20% 9 22.2% possibly_damaging(0.89) deleterious(0.02) deleterious(0.733) NULL CACNA1D 776 genome.wustl.edu 37 3 53700439 53700439 + Silent SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 ENST00000481085 +1 known p.R17Q 0.032 163 0% 448 25.2% 0 - - - - HMMPfam_Ion_trans CACNA2D3 55799 genome.wustl.edu 37 3 54661879 54661879 + Silent SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_018398.2 +1 reviewed p.N343 0.802 374 0% 961 14.3% 0 - - - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like ADAMTS9 56999 genome.wustl.edu 37 3 64536627 64536627 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_182920.1 -1 reviewed p.R1604C 0.014 97 0% 217 13.4% 10 20% benign(0.339) tolerated(0.17) neutral(0.166) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat MAGI1 9223 genome.wustl.edu 37 3 65365099 65365099 + Silent SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 ENST00000460329 -1 known p.A851V 1.000 51 0% 67 25.4% 37 16.2% - - - NULL ROBO1 6091 genome.wustl.edu 37 3 78666966 78666966 + Silent SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_002941.3 -1 reviewed p.T1367 0.017 95 0% 155 32.3% 28 46.4% - - - NULL ABI3BP 25890 genome.wustl.edu 37 3 100583677 100583677 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_015429.3 -1 validated p.A362T 0.998 203 0% 227 26.9% 0 - probably_damaging(0.996) deleterious(0.03) deleterious(0.826) NULL PHLDB2 90102 genome.wustl.edu 37 3 111688702 111688702 + Missense_Mutation SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001134438.1 +1 validated p.K1161E 1.000 235 0% 466 16.3% 1 0% probably_damaging(0.98) deleterious(0) deleterious(0.869) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like WDR52 55779 genome.wustl.edu 37 3 113049472 113049473 + Frame_Shift_Del DEL AG AG - novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 ENST00000393845 -1 known p.L368fs 0.542:0.493 - - - - - - - - - NULL C3orf15 89876 genome.wustl.edu 37 3 119462954 119462954 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_033364.3 +1 validated p.R605C 0.986 85 0% 182 45.6% 6 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MYLK 4638 genome.wustl.edu 37 3 123348451 123348451 + Missense_Mutation SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_053025.3 -1 reviewed p.M1662V 1.000 95 0% 171 12.9% 25 0% probably_damaging(0.988) deleterious(0.01) deleterious(0.843) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase RAB6B 51560 genome.wustl.edu 37 3 133557074 133557074 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_016577.3 -1 validated p.R144H 0.999 63 0% 106 21.7% 23 13% possibly_damaging(0.602) tolerated(0.12) deleterious(0.469) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases SLCO2A1 6578 genome.wustl.edu 37 3 133667485 133667485 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_005630.2 -1 validated p.A334T 0.999 238 0% 475 29.1% 11 0% unknown(0) deleterious(0.01) - HMMPfam_OATP,superfamily_MFS_gen_substrate_transporter EPHB1 2047 genome.wustl.edu 37 3 134825298 134825298 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_004441.4 +1 reviewed p.A272T 1.000 67 0% 158 24.1% 0 - benign(0.01) tolerated(0.45) neutral(0.013) NULL AGTR1 185 genome.wustl.edu 37 3 148459389 148459389 + Silent SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_000685.4 +1 reviewed p.S189 0.171 152 0% 259 27.8% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like GPR87 53836 genome.wustl.edu 37 3 151012416 151012416 + Silent SNP T T A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_023915.3 -1 validated p.A206 0.025 282 0% 508 13.4% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PIK3CA 5290 genome.wustl.edu 37 3 178916729 178916729 + Missense_Mutation SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_006218.2 +1 reviewed p.E39G 1.000 73 0% 121 28.9% 0 - probably_damaging(0.984) tolerated(0.13) deleterious(0.683) HMMPfam_PI3K_p85B,HMMSmart_PI3K_p85B PARL 55486 genome.wustl.edu 37 3 183551311 183551311 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_018622.5 -1 reviewed p.A333T 1.000 148 0% 355 16.9% 63 9.5% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Rhomboid DVL3 1857 genome.wustl.edu 37 3 183888291 183888291 + Silent SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_004423.3 +1 reviewed p.S633 1.000 26 0% 45 13.3% 50 20% - - - NULL MAP3K13 9175 genome.wustl.edu 37 3 185181431 185181431 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_004721.3 +1 reviewed p.R458C 1.000 140 0% 323 26.3% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL HRG 3273 genome.wustl.edu 37 3 186392978 186392978 + Missense_Mutation SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_000412.2 +1 reviewed p.Q247R 0.618 261 0% 476 24.2% 0 - possibly_damaging(0.873) deleterious(0.02) deleterious(0.722) NULL ATP13A5 344905 genome.wustl.edu 37 3 193023395 193023395 + Silent SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_198505.2 -1 provisional p.P877 0.976 589 0% 1208 27% 0 - - - - superfamily_SSF56784,superfamily_SSF81665 KIAA0226 9711 genome.wustl.edu 37 3 197408046 197408046 + Missense_Mutation SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001145642.2 -1 validated p.I750T 1.000 93 0% 134 23.9% 6 50% possibly_damaging(0.898) deleterious(0.05) deleterious(0.700) NULL LMLN 89782 genome.wustl.edu 37 3 197703492 197703492 + Missense_Mutation SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001136049.2 +1 reviewed p.L152P 0.535 95 0% 227 18.9% 1 0% possibly_damaging(0.945) deleterious(0.02) deleterious(0.772) "superfamily_Metalloproteases (""zincins"") catalytic domain" RNF4 6047 genome.wustl.edu 37 4 2515435 2515435 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 ENST00000511859 +1 known p.A101V 0.998 93 0% 150 12.7% 50 10% unknown(0) deleterious(0) - NULL OTOP1 133060 genome.wustl.edu 37 4 4199591 4199591 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_177998.1 -1 provisional p.A324T 0.526 37 0% 80 26.3% 0 - benign(0.003) deleterious(0.04) neutral(0.349) HMMPfam_DUF270 MAN2B2 23324 genome.wustl.edu 37 4 6610848 6610848 + Missense_Mutation SNP C C T rs184138382 by1000genomes TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_015274.1 +1 validated p.T610M 0.961 56 0% 66 43.9% 52 40.3% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_Galactose mutarotase-like,HMMPfam_Glyco_hydro_38C TBC1D14 57533 genome.wustl.edu 37 4 7012479 7012479 + Missense_Mutation SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001113361.1 +1 validated p.M540V 1.000 212 0% 318 41.2% 9 55.5% benign(0.124) tolerated(0.13) neutral(0.263) HMMPfam_TBC,HMMSmart_TBC CLOCK 9575 genome.wustl.edu 37 4 56319268 56319268 + Nonsense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_004898.2 -1 reviewed p.R387* 1.000 136 0% 165 30.9% 1 0% - - - NULL TMPRSS11B 132724 genome.wustl.edu 37 4 69094977 69094977 + Missense_Mutation SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_182502.3 -1 validated p.N315S 0.098 299 0% 241 33.6% 0 - probably_damaging(0.98) tolerated(0.13) deleterious(0.676) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases CXCL3 2921 genome.wustl.edu 37 4 74903853 74903853 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_002090.2 -1 validated p.A89T 0.777 196 0% 284 10.6% 1 0% benign(0) tolerated(0.43) neutral(0.013) HMMPfam_IL8,HMMSmart_SCY,superfamily_Chemokine_IL8 FRAS1 80144 genome.wustl.edu 37 4 79396683 79396683 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_025074.6 +1 reviewed p.E2591K 0.744 114 0.9% 168 42.9% 3 0% benign(0.001) tolerated(0.85) neutral(0.001) HMMPfam_Calx-beta,HMMSmart_SM00237 DSPP 1834 genome.wustl.edu 37 4 88535227 88535227 + Silent SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_014208.3 +1 reviewed p.S471 0.024 338 0% 272 21.7% 0 - - - - NULL LOC100287782 100287782 genome.wustl.edu 37 4 99877753 99877756 + Frame_Shift_Del DEL AAAA AAAA - novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 XM_002342458.1 +1 model p.K78fs 0.064:0.068:0.071:0.074 - - - - - - - - - NULL FAT4 79633 genome.wustl.edu 37 4 126241144 126241144 + Missense_Mutation SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_024582.4 +1 validated p.Q1193R 1.000 99 0% 60 21.7% 0 - benign(0.144) tolerated(0.53) neutral(0.020) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT4 79633 genome.wustl.edu 37 4 126412010 126412010 + Missense_Mutation SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_024582.4 +1 validated p.Y4678C 0.526 145 0% 216 20.4% 5 0% probably_damaging(0.978) tolerated(0.18) deleterious(0.476) NULL PHF17 79960 genome.wustl.edu 37 4 129783194 129783194 + Silent SNP T T G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_199320.2 +1 validated p.A439 0.970 135 0% 186 19.9% 15 26.6% - - - NULL ETFDH 2110 genome.wustl.edu 37 4 159627353 159627353 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_004453.2 +1 reviewed p.T433I 1.000 145 0% 192 20.3% 14 7.1% benign(0) tolerated(0.1) neutral(0.286) superfamily_FAD/NAD(P)-binding domain FAM218A 152756 genome.wustl.edu 37 4 165878494 165878494 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_153027.1 +1 predicted p.T107M 0.000 14 0% 32 28.1% 0 - possibly_damaging(0.828) - - NULL DDX60L 91351 genome.wustl.edu 37 4 169351665 169351666 + Frame_Shift_Ins INS - - T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001012967.1 -1 validated p.E548fs 0.002:0.003 - - - - - - - - - NULL GLRA3 8001 genome.wustl.edu 37 4 175710001 175710001 + Silent SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_006529.2 -1 validated p.S55 0.018 207 0% 252 39.3% 0 - - - - HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like ASB5 140458 genome.wustl.edu 37 4 177142621 177142621 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_080874.2 -1 reviewed p.T172M 0.011 99 0% 78 23.1% 0 - benign(0.003) deleterious(0.02) neutral(0.383) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat IL7R 3575 genome.wustl.edu 37 5 35874558 35874558 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_002185.2 +1 reviewed p.M238I 0.004 348 0% 505 18% 0 - benign(0) tolerated(0.41) neutral(0.015) NULL NIPBL 25836 genome.wustl.edu 37 5 37057374 37057374 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_133433.3 +1 reviewed p.M2450I 1.000 200 0.5% 394 16.2% 12 25% benign(0.073) tolerated(1) neutral(0.005) NULL RGNEF 64283 genome.wustl.edu 37 5 73187963 73187963 + Silent SNP T T G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001080479.2 +1 reviewed p.A1158 0.996 173 0% 305 32.8% 6 50% - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like SPZ1 84654 genome.wustl.edu 37 5 79617056 79617056 + Missense_Mutation SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_032567.3 +1 validated p.L341P 0.006 75 0% 92 39.1% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL HAPLN1 1404 genome.wustl.edu 37 5 82940461 82940461 + Nonsense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001884.3 -1 validated p.R166* 0.995 18 0% 24 33.3% 3 0% - - - HMMPfam_Xlink,HMMSmart_SM00445,superfamily_C-type lectin-like COX7C 1350 genome.wustl.edu 37 5 85915218 85915218 + Missense_Mutation SNP T T G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001867.2 +1 reviewed p.C42G 0.614 212 0% 368 20.9% 771 20.1% benign(0.025) deleterious(0) neutral(0.446) HMMPfam_COX7C,superfamily_Mitochondrial cytochrome c oxidase subunit VIIc (aka VIIIa) SLC4A9 83697 genome.wustl.edu 37 5 139743774 139743774 + Splice_Site SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_031467.2 +1 validated e10+2 1.000 38 0% 47 29.8% 0 - - - - - HARS2 23438 genome.wustl.edu 37 5 140073860 140073860 + Missense_Mutation SNP C C A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_012208.2 +1 reviewed p.L132I 1.000 141 0% 181 23.8% 19 42.1% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_tRNA-synt_2b,superfamily_SSF55681 PCDHB14 56122 genome.wustl.edu 37 5 140604697 140604697 + Silent SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_018934.2 +1 reviewed p.A540 0.631 25 0% 46 32.6% 23 21.7% - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB18 54660 genome.wustl.edu 37 5 140615531 140615531 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 ENST00000274705 +1 known p.H416Y 0.082 55 0% 96 36.5% 11 0% - - - HMMPfam_Cadherin,superfamily_Cadherin SPRY4 81848 genome.wustl.edu 37 5 141694081 141694081 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_030964.3 -1 validated p.T221M 1.000 73 0% 97 40.2% 27 44.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sprouty SLU7 10569 genome.wustl.edu 37 5 159840965 159840965 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_006425.4 -1 reviewed p.R116C 1.000 207 0% 228 32.9% 8 25% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ODZ2 57451 genome.wustl.edu 37 5 167689426 167689426 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001122679.1 +1 inferred p.G2637R 1.000 36 0% 32 15.6% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL NSD1 64324 genome.wustl.edu 37 5 176636852 176636852 + Silent SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_022455.4 +1 reviewed p.E484 1.000 135 0% 181 33.7% 0 - - - - NULL GRM6 2916 genome.wustl.edu 37 5 178408732 178408732 + Nonsense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_000843.3 -1 reviewed p.R854* 1.000 33 0% 52 19.2% 0 - - - - NULL HNRNPH1 3187 genome.wustl.edu 37 5 179045211 179045211 + Nonsense_Mutation SNP C C A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 ENST00000510678 -1 known p.E171* 1.000 94 0% 151 40.4% 176 46% - - - NULL SLC22A23 63027 genome.wustl.edu 37 6 3273306 3273306 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_015482.1 -1 validated p.G682S 0.980 10 0% 15 33.3% 6 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL GFOD1 54438 genome.wustl.edu 37 6 13487073 13487073 + Missense_Mutation SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_018988.2 -1 provisional p.I17T 1.000 34 0% 22 36.4% 0 - benign(0.424) deleterious(0.01) deleterious(0.543) HMMPfam_GFO_IDH_MocA,superfamily_NAD(P)-binding Rossmann-fold domains CAP2 10486 genome.wustl.edu 37 6 17426914 17426914 + Missense_Mutation SNP A A C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_006366.2 +1 reviewed p.E72A 0.999 118 0% 139 33.8% 20 35% benign(0.252) tolerated(1) neutral(0.026) HMMPfam_CAP_N,superfamily_N-terminal domain of adenylylcyclase associated protein CAP HIST1H3C 8352 genome.wustl.edu 37 6 26045999 26045999 + Missense_Mutation SNP A A C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_003531.2 +1 reviewed p.M121L 1.000 42 0% 62 25.8% 0 - benign(0.004) - - HMMSmart_SM00428,HMMPfam_Histone,superfamily_Histone-fold DNAH8 1769 genome.wustl.edu 37 6 38770986 38770986 + Missense_Mutation SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001371.2 +1 validated p.N761S 1.000 221 0% 269 11.9% 0 - benign(0.01) tolerated(0.55) neutral(0.007) NULL UNC5CL 222643 genome.wustl.edu 37 6 41001767 41001767 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_173561.1 -1 provisional p.T180M 0.930 25 0% 32 46.9% 3 66.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_ZU5 GUCA1B 2979 genome.wustl.edu 37 6 42152477 42152477 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 ENST00000372949 -1 known p.L176F 0.000 68 0% 69 53.6% 0 - possibly_damaging(0.815) tolerated(0.23) neutral(0.349) superfamily_EF-hand PLA2G7 7941 genome.wustl.edu 37 6 46680050 46680050 + Silent SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_005084.3 -1 reviewed p.I165 0.988 255 0% 358 11.7% 2 0% - - - HMMPfam_PAF-AH_p_II,superfamily_SSF53474 GPR111 222611 genome.wustl.edu 37 6 47647941 47647941 + Silent SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_153839.6 +1 validated p.Q134 0.000 124 0% 124 32.3% 1 100% - - - NULL PTCHD4 442213 genome.wustl.edu 37 6 47846896 47846896 + Missense_Mutation SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001013732.3 -1 validated p.N545D 1.000 75 0% 91 19.8% 1 0% probably_damaging(0.979) tolerated(0.06) deleterious(0.744) HMMPfam_Patched DST 667 genome.wustl.edu 37 6 56484213 56484213 + Missense_Mutation SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001723.5 -1 reviewed p.Q1540R 0.986 190 0% 172 11% 0 - possibly_damaging(0.563) tolerated(0.2) neutral(0.241) NULL COL19A1 1310 genome.wustl.edu 37 6 70608916 70608916 + Splice_Site SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001858.4 +1 reviewed e2+2 1.000 90 0% 114 33.3% 0 - - - - - MYO6 4646 genome.wustl.edu 37 6 76540140 76540140 + Missense_Mutation SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_004999.3 +1 reviewed p.V90A 1.000 252 0% 315 29.8% 11 54.5% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO6 4646 genome.wustl.edu 37 6 76582939 76582939 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_004999.3 +1 reviewed p.R667C 1.000 396 0% 611 10.6% 33 18.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases ANKRD6 22881 genome.wustl.edu 37 6 90338948 90338948 + Missense_Mutation SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 ENST00000339746 +1 known p.S535P 0.999 118 0% 157 31.2% 4 50% possibly_damaging(0.61) deleterious(0.01) deleterious(0.617) NULL PDSS2 57107 genome.wustl.edu 37 6 107780273 107780273 + Silent SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_020381.3 -1 reviewed p.L73 1.000 13 0% 33 15.2% 25 4% - - - NULL ZUFSP 221302 genome.wustl.edu 37 6 116987840 116987840 + Silent SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_145062.2 -1 validated p.H172 1.000 169 0% 226 39.8% 3 66.6% - - - HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CEP85L 387119 genome.wustl.edu 37 6 118845064 118845064 + Missense_Mutation SNP C C T rs185836271 by1000genomes TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001042475.2 -1 validated p.R347H 0.997 305 0% 228 10.1% 0 - benign(0.003) tolerated(0.18) neutral(0.056) NULL C6orf58 352999 genome.wustl.edu 37 6 127911310 127911311 + Frame_Shift_Ins INS - - T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001010905.1 +1 predicted p.P252fs 0.000:0.000 - - - - - - - - - HMMPfam_DUF781 LAMA2 3908 genome.wustl.edu 37 6 129419475 129419475 + Missense_Mutation SNP G G T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_000426.3 +1 reviewed p.R185L 1.000 132 0% 193 30.1% 0 - probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_Laminin_N,HMMSmart_LamNT,superfamily_Gal_bind_like ARG1 383 genome.wustl.edu 37 6 131904242 131904242 + Silent SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_000045.2 +1 reviewed p.T201 1.000 232 0% 353 18.4% 0 - - - - HMMPfam_Arginase,superfamily_Arginase/deacetylase GPR126 57211 genome.wustl.edu 37 6 142688858 142688859 + Frame_Shift_Del DEL TT TT - novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 TT TT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_198569.2 +1 reviewed p.F86fs 1.000:1.000 - - - - - - - - - HMMPfam_CUB,HMMSmart_CUB,superfamily_CUB SYNE1 23345 genome.wustl.edu 37 6 152697561 152697561 + Missense_Mutation SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_182961.2 -1 reviewed p.I3093M 0.998 315 0% 303 36.6% 0 - benign(0.284) tolerated(0.05) neutral(0.432) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat FNDC1 84624 genome.wustl.edu 37 6 159653636 159653636 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_032532.2 +1 validated p.R698W 0.000 28 0% 18 22.2% 2 0% unknown(0) deleterious(0) - NULL MRPL18 29074 genome.wustl.edu 37 6 160212048 160212048 + Silent SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_014161.3 +1 reviewed p.A43 0.588 39 0% 50 38% 64 53.1% - - - NULL PACRG 135138 genome.wustl.edu 37 6 163735946 163735946 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_152410.2 +1 reviewed p.R273H 1.000 83 0% 132 27.3% 19 52.6% probably_damaging(0.973) tolerated(0.49) neutral(0.425) HMMPfam_ParcG FAM20C 56975 genome.wustl.edu 37 7 295867 295867 + Silent SNP C C T rs149513190 by1000genomes TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 ENST00000510839 +1 known p.R88C 0.996 4 0.000 7 0.571 14 57.1% - - - HMMPfam_DUF1193 HIBADH 11112 genome.wustl.edu 37 7 27565960 27565960 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_152740.2 -1 validated p.S295N 0.966 58 0% 83 12% 91 18.6% benign(0) tolerated(0.57) neutral(0.006) superfamily_6-phosphogluconate dehydrogenase C-terminal domain-like C7orf10 79783 genome.wustl.edu 37 7 40498776 40498776 + Missense_Mutation SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_024728.1 +1 provisional p.L292P 1.000 160 0% 178 14.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_CoA-Trfase_fam_III C7orf65 401335 genome.wustl.edu 37 7 47698583 47698583 + Silent SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001123065.1 +1 validated p.S71 0.002 84 0% 132 35.6% 0 - - - - NULL PKD1L1 168507 genome.wustl.edu 37 7 47925491 47925491 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_138295.2 -1 reviewed p.P1000S 0.000 136 0% 165 14.5% 0 - benign(0.122) tolerated(0.11) neutral(0.282) NULL NSUN5P1 155400 genome.wustl.edu 37 7 75045046 75045046 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 ENST00000427550 +1 known p.S45L 1.000 35 0% 53 17% 12 16.6% - - - superfamily_S-adenosyl-L-methionine-dependent methyltransferases CACNA2D1 781 genome.wustl.edu 37 7 81594937 81594937 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_000722.2 -1 reviewed p.M849I 1.000 192 0% 372 12.4% 0 - benign(0.248) tolerated(0.47) neutral(0.036) NULL ABCB1 5243 genome.wustl.edu 37 7 87214992 87214992 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_000927.3 -1 reviewed p.R41H 1.000 98 0% 131 39.7% 2 0% unknown(0) deleterious(0) - superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain CCDC132 55610 genome.wustl.edu 37 7 92881996 92881996 + Missense_Mutation SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_017667.2 +1 validated p.S45G 0.999 189 0% 152 32.2% 2 0% benign(0.008) deleterious(0.04) neutral(0.349) NULL MOGAT3 346606 genome.wustl.edu 37 7 100839302 100839302 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 ENST00000379423 -1 known p.G250S 0.210 65 0% 90 22.2% 0 - unknown(0) tolerated(0.27) - NULL MOGAT3 346606 genome.wustl.edu 37 7 100844027 100844027 + Missense_Mutation SNP C C A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_178176.2 -1 provisional p.G37C 1.000 65 0% 70 21.4% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL PIK3CG 5294 genome.wustl.edu 37 7 106509866 106509866 + Silent SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_002649.2 +1 reviewed p.S620 1.000 85 0% 86 17.4% 0 - - - - HMMPfam_PI3Ka,HMMSmart_SM00145,superfamily_ARM repeat IQUB 154865 genome.wustl.edu 37 7 123152298 123152298 + Missense_Mutation SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_178827.4 -1 validated p.S33P 0.000 228 0% 439 33.9% 2 50% possibly_damaging(0.821) deleterious(0.05) deleterious(0.656) NULL LOC647030 647030 genome.wustl.edu 37 7 131346916 131346916 + RNA SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 XR_017470.3 -1 model NULL 1.000 241 0.4% 283 10.6% 39 0% - - - - SVOPL 136306 genome.wustl.edu 37 7 138363735 138363735 + Missense_Mutation SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001139456.1 -1 validated p.L19P 0.051 58 0% 162 27.8% 0 - possibly_damaging(0.797) deleterious(0) deleterious(0.744) superfamily_MFS general substrate transporter UBN2 254048 genome.wustl.edu 37 7 138936802 138936802 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_173569.3 +1 validated p.A138V 1.000 110 0% 167 20.4% 0 - possibly_damaging(0.842) deleterious(0.01) deleterious(0.728) NULL OR9A2 135924 genome.wustl.edu 37 7 142723594 142723594 + Missense_Mutation SNP G G T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001001658.1 -1 provisional p.P209H 0.005 208 0% 241 34.9% 0 - possibly_damaging(0.924) deleterious(0.01) deleterious(0.778) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like LOC728377 728377 genome.wustl.edu 37 7 143983931 143983931 + RNA SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 XR_078379.1 -1 model NULL 0.000 633 0% 729 28.9% 10 20% - - - - MLL3 58508 genome.wustl.edu 37 7 151921130 151921132 + In_Frame_Del DEL TCT TCT - novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_170606.2 -1 reviewed p.E1097in_frame_del 0.979:0.981:0.125 - - - - - - - - - HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger,HMMPfam_PHD RBM33 155435 genome.wustl.edu 37 7 155499636 155499636 + Silent SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 ENST00000392761 +1 known p.G46D 1.000 160 0% 324 10.8% 5 40% - - - NULL CSMD1 64478 genome.wustl.edu 37 8 2806823 2806823 + Missense_Mutation SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_033225.5 -1 validated p.Q3468R 1.000 164 0% 291 25.1% 0 - benign(0.007) tolerated(0.84) neutral(0.001) NULL SGK223 157285 genome.wustl.edu 37 8 8176151 8176151 + Missense_Mutation SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001080826.1 -1 validated p.Y1245C 1.000 28 0% 40 37.5% 22 9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) SGK223 157285 genome.wustl.edu 37 8 8185617 8185617 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001080826.1 -1 validated p.P892L 0.347 46 0% 112 17% 9 33.3% probably_damaging(0.979) deleterious(0.01) deleterious(0.828) NULL LPL 4023 genome.wustl.edu 37 8 19816866 19816866 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 ENST00000311322 +1 known p.E372K 1.000 219 0% 316 53.8% 1 0% possibly_damaging(0.877) tolerated(0.06) deleterious(0.664) HMMPfam_PLAT,HMMSmart_SM00308,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain) SORBS3 10174 genome.wustl.edu 37 8 22423920 22423920 + Missense_Mutation SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_005775.4 +1 validated p.L338P 0.927 32 0% 47 25.5% 11 27.2% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL WHSC1L1 54904 genome.wustl.edu 37 8 38162846 38162846 + Missense_Mutation SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_023034.1 -1 reviewed p.F787S 1.000 155 0% 378 12.4% 3 33.3% benign(0) tolerated(0.23) neutral(0.042) HMMSmart_SM00249 AP3M2 10947 genome.wustl.edu 37 8 42025245 42025245 + Missense_Mutation SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001134296.1 +1 reviewed p.M358T 1.000 287 0.3% 458 28.4% 4 0% benign(0.005) deleterious(0.01) neutral(0.406) HMMPfam_Adap_comp_sub,superfamily_Second domain of Mu2 adaptin subunit (ap50) of ap2 adaptor PRKDC 5591 genome.wustl.edu 37 8 48691202 48691202 + Missense_Mutation SNP T T A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 ENST00000314191 -1 known p.S3890C 1.000 51 0% 76 13.2% 50 18% benign(0.044) tolerated(0.29) neutral(0.032) HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,superfamily_Protein kinase-like (PK-like) ARFGEF1 10565 genome.wustl.edu 37 8 68140340 68140340 + Missense_Mutation SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_006421.3 -1 reviewed p.V1150A 1.000 249 0% 290 27.2% 8 25% probably_damaging(0.989) deleterious(0) deleterious(0.884) superfamily_ARM-type_fold CPA6 57094 genome.wustl.edu 37 8 68334845 68334845 + Missense_Mutation SNP C C A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_020361.4 -1 validated p.G403V 1.000 356 0% 658 27.2% 0 - unknown(0) deleterious(0) - HMMPfam_Peptidase_M14,HMMSmart_SM00631,superfamily_Zn-dependent exopeptidases TMEM64 169200 genome.wustl.edu 37 8 91637995 91637995 + Silent SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001008495.3 -1 validated p.S349 0.975 128 0% 338 26% 6 16.6% - - - NULL ESRP1 54845 genome.wustl.edu 37 8 95676968 95676968 + Nonsense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_017697.3 +1 validated p.R230* 0.446 200 0% 443 13.5% 24 0% - - - HMMSmart_SM00360,superfamily_RNA-binding domain RBD TSPYL5 85453 genome.wustl.edu 37 8 98289411 98289411 + Missense_Mutation SNP C C A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_033512.2 -1 validated p.R221M 0.999 131 0% 224 13.4% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_NAP KCNS2 3788 genome.wustl.edu 37 8 99440895 99440895 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_020697.2 +1 provisional p.V230M 0.997 223 0% 247 18.2% 0 - possibly_damaging(0.952) deleterious(0) deleterious(0.840) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels LRP12 29967 genome.wustl.edu 37 8 105521274 105521274 + Silent SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_013437.4 -1 reviewed p.R55 0.999 96 0% 319 11% 0 - - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CSMD3 114788 genome.wustl.edu 37 8 113418813 113418813 + Missense_Mutation SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_198123.1 -1 validated p.R1917G 0.978 103 0% 192 20.8% 0 - probably_damaging(0.995) tolerated(0.27) deleterious(0.491) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain KIAA1432 57589 genome.wustl.edu 37 9 5772699 5772699 + Missense_Mutation SNP A A C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_020829.2 +1 validated p.E1172A 1.000 139 0% 178 17.4% 4 0% probably_damaging(0.998) tolerated(0.32) deleterious(0.498) NULL PTPRD 5789 genome.wustl.edu 37 9 8521494 8521494 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_002839.3 -1 reviewed p.M248I 1.000 84 0% 120 33.3% 0 - benign(0.284) tolerated(0.58) neutral(0.092) HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Immunoglobulin MPDZ 8777 genome.wustl.edu 37 9 13110022 13110022 + Silent SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_003829.3 -1 validated p.Q1928 0.998 104 0% 140 15.7% 14 35.7% - - - NULL FREM1 158326 genome.wustl.edu 37 9 14848699 14848699 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_144966.5 -1 reviewed p.A409T 0.881 293 0% 487 14% 1 0% benign(0.005) tolerated(0.99) - NULL PLAA 9373 genome.wustl.edu 37 9 26928172 26928172 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001031689.2 -1 validated p.G164D 1.000 140 0% 191 10.5% 19 5.2% unknown(0) tolerated(0.17) - HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 TEK 7010 genome.wustl.edu 37 9 27220055 27220055 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_000459.3 +1 reviewed p.P1038S 1.000 184 0% 342 12.9% 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like TOPORS 10210 genome.wustl.edu 37 9 32541534 32541534 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_005802.3 -1 reviewed p.D997N 1.000 256 0.4% 326 39.3% 8 12.5% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL FAM214B 80256 genome.wustl.edu 37 9 35107877 35107877 + Missense_Mutation SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_025182.2 -1 predicted p.V132A 0.295 25 0% 47 38.3% 4 25% benign(0) tolerated(0.49) neutral(0.011) NULL PRUNE2 158471 genome.wustl.edu 37 9 79320472 79320472 + Nonsense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_015225.2 -1 validated p.Q2240* 0.006 86 0% 71 23.9% 0 - - - - NULL DAPK1 1612 genome.wustl.edu 37 9 90263767 90263767 + Silent SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_004938.2 +1 reviewed p.F467 0.188 122 0% 100 13% 21 9.5% - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK C9orf174 100499483 genome.wustl.edu 37 9 100128867 100128867 + Silent SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_020893.1 +1 predicted p.P1347 0.000 86 0% 108 20.4% 1 0% - - - NULL COL15A1 1306 genome.wustl.edu 37 9 101777811 101777811 + Missense_Mutation SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001855.3 +1 reviewed p.L489P 0.011 38 0% 56 33.9% 5 0% benign(0) tolerated(0.25) neutral(0.037) NULL ZNF462 58499 genome.wustl.edu 37 9 109687790 109687790 + Missense_Mutation SNP A A T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_021224.4 +1 validated p.M533L 0.054 326 0% 299 33.1% 1 0% unknown(0) tolerated(0.17) - superfamily_beta-sandwich domain of Sec23/24 SVEP1 79987 genome.wustl.edu 37 9 113275327 113275327 + Silent SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_153366.3 -1 validated p.C394 1.000 321 0% 546 31.1% 0 - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Growth factor receptor domain,superfamily_Complement control module/SCR domain KIAA0368 23392 genome.wustl.edu 37 9 114199221 114199221 + Missense_Mutation SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001080398.1 -1 provisional p.Q414R 1.000 118 0% 144 14.6% 8 0% probably_damaging(0.978) deleterious(0.01) deleterious(0.826) superfamily_ARM repeat TRAF1 7185 genome.wustl.edu 37 9 123675800 123675800 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_005658.3 -1 reviewed p.E171K 0.245 14 0% 19 31.6% 3 33.3% benign(0.025) tolerated(0.24) neutral(0.038) NULL NUP214 8021 genome.wustl.edu 37 9 134014760 134014760 + Silent SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_005085.2 +1 reviewed p.V366 0.999 197 0.5% 257 38.9% 10 40% - - - NULL FAM78A 286336 genome.wustl.edu 37 9 134136508 134136508 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_033387.3 -1 validated p.R185W 1.000 53 0% 42 21.4% 7 14.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PFKP 5214 genome.wustl.edu 37 10 3124610 3124610 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_002627.3 +1 validated p.R48H 1.000 77 0% 184 31.5% 40 17.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PFK,superfamily_Phosphofructokinase FAM208B 54906 genome.wustl.edu 37 10 5789951 5789951 + Missense_Mutation SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_017782.4 +1 validated p.R1523G 0.000 64 0% 99 38.4% 10 60% benign(0.001) tolerated(0.1) neutral(0.286) NULL SFMBT2 57713 genome.wustl.edu 37 10 7269848 7269848 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001029880.1 -1 provisional p.A391V 0.877 45 0% 82 11% 0 - benign(0.094) deleterious(0.01) neutral(0.413) HMMSmart_SM00561,superfamily_Tudor/PWWP/MBT KIN 22944 genome.wustl.edu 37 10 7820908 7820908 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_012311.2 -1 reviewed p.R151W 0.969 405 0.2% 821 25.2% 5 20% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Kin17_mid DCLRE1C 64421 genome.wustl.edu 37 10 14950638 14950638 + Silent SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001033855.1 -1 reviewed p.P616 0.083 393 0% 604 13.4% 5 20% - - - NULL LOC100287578 100287578 genome.wustl.edu 37 10 17277290 17277290 + Missense_Mutation SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 XM_002342963.1 -1 model p.S41G 0.373 101 0% 181 12.7% 1942 11.2% - - - NULL ARHGAP21 57584 genome.wustl.edu 37 10 24874114 24874114 + Missense_Mutation SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_020824.3 -1 validated p.T1702A 1.000 175 0% 235 15.3% 5 40% possibly_damaging(0.94) deleterious(0) deleterious(0.830) NULL GPR158 57512 genome.wustl.edu 37 10 25887536 25887536 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_020752.2 +1 validated p.T994I 0.048 74 0% 77 19.5% 0 - benign(0.001) tolerated(0.43) neutral(0.013) NULL CUL2 8453 genome.wustl.edu 37 10 35314080 35314080 + Missense_Mutation SNP C C A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_003591.2 -1 provisional p.W555L 1.000 123 0% 134 32.1% 7 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cullin,HMMSmart_SM00182,superfamily_Cullin homology domain PGBD3 267004 genome.wustl.edu 37 10 50723827 50723827 + Missense_Mutation SNP A A T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_170753.2 -1 validated p.I445K 0.022 51 0% 72 29.2% 2 50% possibly_damaging(0.951) tolerated(0.34) neutral(0.417) NULL FAM21A 387680 genome.wustl.edu 37 10 51892683 51892683 + Missense_Mutation SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001005751.1 +1 validated p.L1335P 1.000 468 0% 731 33.8% 28 17.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL HKDC1 80201 genome.wustl.edu 37 10 71000412 71000412 + Missense_Mutation SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_025130.3 +1 validated p.M199T 0.982 88 0% 122 23.8% 52 57.6% benign(0) tolerated(0.21) neutral(0.044) HMMPfam_Hexokinase_1,superfamily_Actin-like ATPase domain CAMK2G 818 genome.wustl.edu 37 10 75585106 75585106 + Splice_Site SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_172171.1 -1 reviewed e14-1 1.000 79 0% 107 14% 0 - - - - - PTEN 5728 genome.wustl.edu 37 10 89692904 89692904 + Missense_Mutation SNP C C G rs121909224 byCluster TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 ENST00000371953 +1 known p.R130G 1.000 344 0% 428 70.8% 19 89.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DSPc,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II TBC1D12 23232 genome.wustl.edu 37 10 96271340 96271340 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_015188.1 +1 validated p.G564S 1.000 262 0% 384 15.9% 4 0% probably_damaging(0.965) deleterious(0.05) deleterious(0.752) HMMPfam_TBC,HMMSmart_TBC,superfamily_RabGAP_TBC FAM178A 55719 genome.wustl.edu 37 10 102698360 102698360 + Missense_Mutation SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001136123.1 +1 validated p.S841G 1.000 376 0% 588 38.6% 4 0% benign(0.15) deleterious(0.02) neutral(0.396) NULL C10orf2 56652 genome.wustl.edu 37 10 102749619 102749619 + Missense_Mutation SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_021830.4 +1 reviewed p.F488L 1.000 31 0% 43 27.9% 18 38.8% benign(0.019) deleterious(0) neutral(0.446) superfamily_P-loop containing nucleoside triphosphate hydrolases POLL 27343 genome.wustl.edu 37 10 103345185 103345185 + Missense_Mutation SNP G G T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_013274.3 -1 reviewed p.P154H 0.252 182 0% 289 15.9% 11 9% probably_damaging(0.964) deleterious(0.01) deleterious(0.812) NULL DCLRE1A 9937 genome.wustl.edu 37 10 115612564 115612564 + Missense_Mutation SNP C C A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_014881.3 -1 provisional p.Q126H 1.000 212 0% 192 15.1% 2 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL MUC5B 727897 genome.wustl.edu 37 11 1272066 1272067 + In_Frame_Ins INS - - ACC rs181297239 by1000genomes TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_002458.1 +1 validated p.4659in_frame_insT 0.007:0.017 - - - - - - - - - NULL KRTAP5-3 387266 genome.wustl.edu 37 11 1629028 1629028 + Silent SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001012708.2 -1 validated p.Q196 0.008 319 0.3% 608 33.2% 0 - - - - NULL LOC100288908 100288908 genome.wustl.edu 37 11 5275570 5275570 + Nonsense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 XM_002343046.1 +1 model p.Q10* 0.987 301 0% 385 11.2% 0 - - - - NULL CCKBR 887 genome.wustl.edu 37 11 6292308 6292308 + Silent SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_176875.2 +1 reviewed p.C293 0.997 124 0% 124 16.9% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like DNHD1 144132 genome.wustl.edu 37 11 6568404 6568404 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_144666.2 +1 provisional p.G2079R 0.675 123 0% 158 11.4% 2 0% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) superfamily_P-loop containing nucleoside triphosphate hydrolases ILK 3611 genome.wustl.edu 37 11 6625502 6625502 + Missense_Mutation SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001014794.1 +1 reviewed p.M1V 1.000 16 0% 20 30% 63 7.9% possibly_damaging(0.934) deleterious(0) deleterious(0.825) NULL RRAS2 22800 genome.wustl.edu 37 11 14316390 14316390 + Missense_Mutation SNP T T A rs113954997 byCluster TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_012250.5 -1 reviewed p.Q72L 1.000 151 0% 314 39.2% 96 51% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases PTPN5 84867 genome.wustl.edu 37 11 18765677 18765678 + Frame_Shift_Ins INS - - TC novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_006906.1 -1 validated p.M56fs 0.971:0.937 - - - - - - - - - NULL KIF18A 81930 genome.wustl.edu 37 11 28119344 28119346 + In_Frame_Del DEL CTT CTT - novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_031217.3 -1 validated p.E50in_frame_del 0.977:0.989:1.000 - - - - - - - - - HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SSF52540 TRAF6 7189 genome.wustl.edu 37 11 36516536 36516536 + Missense_Mutation SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_004620.2 -1 reviewed p.I223T 1.000 84 0% 111 13.5% 5 20% benign(0.032) tolerated(0.2) neutral(0.051) HMMPfam_zf-TRAF,superfamily_Traf_like AGBL2 79841 genome.wustl.edu 37 11 47731941 47731941 + Nonsense_Mutation SNP C C A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_024783.2 -1 validated p.E74* 0.989 335 0% 490 33.5% 0 - - - - NULL OR4C3 256144 genome.wustl.edu 37 11 48346597 48346597 + Silent SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001004702.1 +1 provisional p.T35 0.004 379 0% 426 23.2% 0 - - - - superfamily_Family A G protein-coupled receptor-like OR4A16 81327 genome.wustl.edu 37 11 55111658 55111658 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001005274.1 +1 provisional p.R328W 0.000 44 0% 22 27.3% 0 - probably_damaging(0.97) deleterious(0) deleterious(0.857) NULL P2RX3 5024 genome.wustl.edu 37 11 57135903 57135903 + Missense_Mutation SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_002559.2 +1 reviewed p.V332A 1.000 49 0% 92 15.2% 1 100% probably_damaging(0.967) deleterious(0.01) deleterious(0.815) HMMPfam_P2X_receptor DAK 26007 genome.wustl.edu 37 11 61109940 61109940 + Silent SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_015533.3 +1 reviewed p.H221 0.975 22 0% 27 37% 45 13.3% - - - HMMPfam_Dak1,superfamily_DAK1/DegV-like SLC3A2 6520 genome.wustl.edu 37 11 62655998 62655998 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001012661.1 +1 reviewed p.A607T 0.004 36 0% 73 17.8% 233 30.9% benign(0.032) tolerated(0.28) neutral(0.033) superfamily_Glycosyl hydrolase domain C11orf84 144097 genome.wustl.edu 37 11 63586354 63586354 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_138471.1 +1 predicted p.A272T 0.477 56 0% 59 11.9% 27 14.8% benign(0.401) tolerated(0.08) neutral(0.429) NULL NAA40 79829 genome.wustl.edu 37 11 63721843 63721843 + Silent SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_024771.2 +1 validated p.S202 0.883 52 0% 56 39.3% 11 18.1% - - - NULL ATG2A 23130 genome.wustl.edu 37 11 64670768 64670768 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_015104.2 -1 validated p.G1202S 1.000 26 0% 17 29.4% 12 33.3% benign(0.007) tolerated(0.13) neutral(0.253) NULL SF3B2 10992 genome.wustl.edu 37 11 65829168 65829168 + Silent SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_006842.2 +1 reviewed p.F597 1.000 247 0% 438 37.2% 152 41.4% - - - HMMPfam_DUF382 ACTN3 89 genome.wustl.edu 37 11 66319010 66319010 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001104.1 +1 reviewed p.P92S 1.000 126 0% 136 16.2% 0 - benign(0.137) deleterious(0.03) neutral(0.376) HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain MYEOV 26579 genome.wustl.edu 37 11 69062908 69062908 + Silent SNP C C A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_138768.2 +1 validated p.P29 0.000 86 0% 169 20.7% 22 31.8% - - - NULL ARAP1 116985 genome.wustl.edu 37 11 72406076 72406076 + Missense_Mutation SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001040118.2 -1 reviewed p.R1215G 0.959 104 0% 181 12.2% 42 21.4% benign(0.006) tolerated(0.4) neutral(0.016) HMMPfam_RA FAM168A 23201 genome.wustl.edu 37 11 73179451 73179451 + Silent SNP C C A rs144949543 by1000genomes TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_015159.1 -1 predicted p.T23 0.983 235 0% 271 26.2% 21 14.2% - - - NULL PPME1 51400 genome.wustl.edu 37 11 73936272 73936272 + Silent SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_016147.1 +1 provisional p.P123 0.996 175 0% 194 9.8% 21 14.2% - - - HMMPfam_Abhydrolase_1,superfamily_alpha/beta-Hydrolases UVRAG 7405 genome.wustl.edu 37 11 75562928 75562928 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_003369.3 +1 reviewed p.R40W 0.998 264 0% 274 13.9% 1 0% probably_damaging(1) tolerated(0.06) deleterious(0.823) superfamily_C2_CaLB ODZ4 26011 genome.wustl.edu 37 11 78516488 78516488 + Silent SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001098816.2 -1 validated p.G676 0.977 101 0% 136 19.9% 0 - - - - HMMSmart_EGF,HMMPfam_EGF_2,superfamily_SSF57196 TMEM135 65084 genome.wustl.edu 37 11 86782584 86782584 + Missense_Mutation SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_022918.3 +1 validated p.Y97H 1.000 100 0% 117 43.6% 3 66.6% probably_damaging(0.997) tolerated(0.2) deleterious(0.515) NULL MTMR2 8898 genome.wustl.edu 37 11 95581055 95581055 + Silent SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_016156.5 -1 reviewed p.G334 0.604 407 0% 435 11.3% 6 0% - - - HMMPfam_Myotub-related,superfamily_SSF52799 ATM 472 genome.wustl.edu 37 11 108236203 108236203 + Nonsense_Mutation SNP C C T rs121434219 TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_000051.3 +1 reviewed p.R3047* 1.000 361 0% 458 23.1% 6 50% - - - HMMPfam_FATC ARHGAP20 57569 genome.wustl.edu 37 11 110450933 110450933 + Missense_Mutation SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_020809.2 -1 validated p.S913G 0.010 179 0% 214 35.5% 0 - benign(0.401) deleterious(0) deleterious(0.574) NULL ZBTB16 7704 genome.wustl.edu 37 11 114121046 114121046 + Splice_Site SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001018011.1 +1 reviewed e6-2 1.000 111 0% 116 15.5% 0 - - - - - TECTA 7007 genome.wustl.edu 37 11 121037403 121037406 + Frame_Shift_Del DEL GACA GACA - novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 GACA GACA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_005422.2 +1 reviewed p.R1835fs 1.000:1.000:1.000:0.981 - - - - - - - - - HMMPfam_Zona_pellucida,HMMSmart_SM00241 C11orf63 79864 genome.wustl.edu 37 11 122774678 122774678 + Silent SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_024806.2 +1 validated p.P130 0.234 31 0% 51 25.5% 6 16.6% - - - NULL ZNF202 7753 genome.wustl.edu 37 11 123598185 123598185 + Silent SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_003455.2 -1 validated p.T317 1.000 172 0% 271 13.7% 1 0% - - - NULL KIRREL3 84623 genome.wustl.edu 37 11 126306799 126306799 + Missense_Mutation SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_032531.3 -1 reviewed p.N487D 1.000 203 0% 290 13.1% 0 - benign(0.003) tolerated(0.44) neutral(0.013) HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin MFAP5 8076 genome.wustl.edu 37 12 8800752 8800752 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_003480.2 -1 reviewed p.R153C 0.898 220 0% 357 38.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL A2ML1 144568 genome.wustl.edu 37 12 9020613 9020613 + Missense_Mutation SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_144670.3 +1 validated p.Y1298C 0.583 140 0% 172 36.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL A2M 2 genome.wustl.edu 37 12 9229527 9229527 + Silent SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_000014.4 -1 reviewed p.P1119 0.980 127 0.8% 155 36.1% 240 0.4% - - - superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_A2M_comp PLCZ1 89869 genome.wustl.edu 37 12 18849094 18849094 + Silent SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_033123.2 -1 provisional p.G427 0.995 236 0% 304 30.6% 0 - - - - HMMPfam_PI-PLC-Y,HMMSmart_SM00149,superfamily_PLC-like phosphodiesterases PDE3A 5139 genome.wustl.edu 37 12 20766581 20766581 + Missense_Mutation SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_000921.3 +1 validated p.T406A 0.993 85 0% 90 37.8% 0 - benign(0.036) tolerated(0.37) neutral(0.021) NULL LRRK2 120892 genome.wustl.edu 37 12 40715873 40715873 + Missense_Mutation SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_198578.3 +1 reviewed p.Q1736R 1.000 145 0% 159 34% 0 - benign(0.092) tolerated(0.3) neutral(0.036) NULL CERS5 91012 genome.wustl.edu 37 12 50536964 50536964 + Missense_Mutation SNP C C A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_147190.2 -1 provisional p.E109D 0.962 124 0% 151 25.8% 11 27.2% benign(0.008) tolerated(0.52) neutral(0.009) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like CSAD 51380 genome.wustl.edu 37 12 53573574 53573574 + Missense_Mutation SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_015989.4 -1 validated p.S7P 0.000 87 0% 92 16.3% 1 0% benign(0.205) - - NULL PHC1P1 653441 genome.wustl.edu 37 12 55807469 55807469 + Missense_Mutation SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 ENST00000326184 -1 known p.M351T 0.996 280 0.4% 287 9.4% 16 0% - - - NULL HSD17B6 8630 genome.wustl.edu 37 12 57180967 57180967 + Silent SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_003725.2 +1 reviewed p.T265 0.005 104 0% 175 38.9% 1 0% - - - superfamily_NAD(P)-bd LRP1 4035 genome.wustl.edu 37 12 57548391 57548391 + Silent SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_002332.2 +1 reviewed p.S378 1.000 65 0% 110 14.5% 8 12.5% - - - HMMSmart_SM00135,superfamily_YWTD domain MYF6 4618 genome.wustl.edu 37 12 81102367 81102367 + Missense_Mutation SNP G G T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_002469.2 +1 reviewed p.R195M 1.000 41 0% 63 12.7% 0 - probably_damaging(0.979) tolerated(0.11) deleterious(0.694) NULL METAP2 10988 genome.wustl.edu 37 12 95906632 95906632 + Missense_Mutation SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_006838.3 +1 reviewed p.H375R 1.000 420 0% 621 15.6% 45 15.5% benign(0.004) tolerated(0.47) neutral(0.011) "HMMPfam_Peptidase_M24,superfamily_Creatinase/aminopeptidase,superfamily_""Winged helix"" DNA-binding domain" C12orf51 283450 genome.wustl.edu 37 12 112666017 112666017 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001109662.2 -1 validated p.A1822T 1.000 96 0% 117 12% 3 33.3% possibly_damaging(0.922) - - NULL PTPN11 5781 genome.wustl.edu 37 12 112893822 112893822 + Silent SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_002834.3 +1 reviewed p.A237 0.537 178 0% 247 13.8% 8 25% - - - superfamily_(Phosphotyrosine protein) phosphatases II OAS3 4940 genome.wustl.edu 37 12 113388733 113388733 + Missense_Mutation SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_006187.2 +1 reviewed p.L537P 0.000 92 0% 100 13% 5 0% benign(0.002) deleterious(0.02) neutral(0.383) superfamily_Nucleotidyltransferase TPCN1 53373 genome.wustl.edu 37 12 113722406 113722406 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001143819.1 +1 validated p.G527R 0.998 233 0% 207 16.4% 6 16.6% probably_damaging(0.993) tolerated(0.22) deleterious(0.492) superfamily_Voltage-gated potassium channels RNF10 9921 genome.wustl.edu 37 12 121001294 121001294 + Missense_Mutation SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_014868.4 +1 reviewed p.C467R 0.999 125 0% 147 19% 98 28.5% benign(0) tolerated(0.27) neutral(0.034) NULL SGCG 6445 genome.wustl.edu 37 13 23898584 23898584 + Silent SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_000231.2 +1 reviewed p.S260 0.970 61 0% 92 34.8% 0 - - - - HMMPfam_Sarcoglycan_1 SACS 26278 genome.wustl.edu 37 13 23929831 23929831 + Missense_Mutation SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_014363.4 -1 reviewed p.L307P 1.000 202 0% 198 16.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase PARP4 143 genome.wustl.edu 37 13 25009165 25009165 + Missense_Mutation SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_006437.3 -1 reviewed p.T1372A 0.000 59 0% 48 22.9% 58 58.6% benign(0) tolerated(0.64) neutral(0.003) NULL KBTBD7 84078 genome.wustl.edu 37 13 41767896 41767896 + Silent SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_032138.4 -1 provisional p.R166 0.998 104 0% 101 29.7% 11 36.3% - - - HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB HTR2A 3356 genome.wustl.edu 37 13 47466579 47466579 + Missense_Mutation SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_000621.3 -1 reviewed p.N187D 1.000 245 0% 220 11.8% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like SERPINE3 647174 genome.wustl.edu 37 13 51936022 51936022 + Silent SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001101320.1 +1 validated p.P388 0.016 265 0.4% 285 9.8% 0 - - - - HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins LOC643677 643677 genome.wustl.edu 37 13 103381991 103381991 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 XM_002344085.1 -1 model p.C6867Y 0.987 405 0.2% 318 32.1% 0 - unknown(0) deleterious(0) - NULL LAMP1 3916 genome.wustl.edu 37 13 113976677 113976677 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_005561.3 +1 reviewed p.V399I 1.000 41 0% 58 29.3% 523 43.2% probably_damaging(1) tolerated(0.14) deleterious(0.750) HMMPfam_Lamp,PatternScan_LAMP_2 GRTP1 79774 genome.wustl.edu 37 13 114005277 114005277 + Missense_Mutation SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_024719.2 -1 validated p.T118A 1.000 48 0% 91 11% 17 5.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p OR4E2 26686 genome.wustl.edu 37 14 22133397 22133397 + Missense_Mutation SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001001912.1 +1 validated p.I34T 0.000 392 0% 614 35.7% 0 - benign(0) tolerated(0.11) neutral(0.272) superfamily_SSF81321 TM9SF1 10548 genome.wustl.edu 37 14 24662046 24662046 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_006405.5 -1 validated p.R259C 1.000 144 0% 177 20.3% 71 21.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_EMP70 AKAP6 9472 genome.wustl.edu 37 14 33015240 33015240 + Missense_Mutation SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_004274.4 +1 reviewed p.K461E 0.844 116 0% 125 26.4% 0 - possibly_damaging(0.512) deleterious(0) deleterious(0.617) NULL SIX4 51804 genome.wustl.edu 37 14 61190758 61190759 + Frame_Shift_Ins INS - - T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_017420.4 -1 reviewed p.S12fs 0.993:1.000 - - - - - - - - - NULL PCNX 22990 genome.wustl.edu 37 14 71444260 71444260 + Silent SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_014982.2 +1 validated p.S402 0.826 101 0% 134 27.6% 3 33.3% - - - NULL SIPA1L1 26037 genome.wustl.edu 37 14 72152239 72152239 + Missense_Mutation SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_015556.1 +1 provisional p.M1089V 1.000 141 0% 190 37.4% 8 25% benign(0) tolerated(0.59) neutral(0.004) NULL ENSG00000248570 0 genome.wustl.edu 37 14 73744054 73744054 + RNA SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 ENST00000504856 +1 novel NULL 0.000 15 0% 16 43.8% 4 0% - - - - CYP46A1 10858 genome.wustl.edu 37 14 100191800 100191800 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_006668.1 +1 reviewed p.G417S 0.956 49 0% 89 40.4% 0 - benign(0) tolerated(0.97) - HMMPfam_p450,superfamily_Cytochrome_P450 RTL1 388015 genome.wustl.edu 37 14 101348319 101348319 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001134888.2 -1 reviewed p.R936H 1.000 11 0% 23 39.1% 0 - probably_damaging(1) tolerated(0.67) deleterious(0.502) superfamily_DNA/RNA polymerases IGHV3-20 28445 genome.wustl.edu 37 14 106667857 106667857 + Silent SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 ENST00000390606 -1 known p.E25 0.995 428 0% 299 37.1% 0 - - - - HMMPfam_V-set,superfamily_SSF48726 IGHV3-49 28423 genome.wustl.edu 37 14 107013185 107013185 + Missense_Mutation SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 ENST00000390625 -1 known p.L37P 0.032 216 0.5% 224 12.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_IGv,HMMPfam_V-set,superfamily_SSF48726 GABRA5 2558 genome.wustl.edu 37 15 27188394 27188394 + Missense_Mutation SNP A A C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_000810.3 +1 reviewed p.S304R 1.000 40 0% 61 13.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM TRPM1 4308 genome.wustl.edu 37 15 31342635 31342635 + Missense_Mutation SNP G G C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_002420.4 -1 reviewed p.R450G 1.000 1407 0.1% 1816 35.8% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL ARHGAP11A 9824 genome.wustl.edu 37 15 32926189 32926189 + Missense_Mutation SNP G G T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_014783.3 +1 validated p.V431F 1.000 127 0% 113 32.7% 1 0% probably_damaging(0.964) deleterious(0) deleterious(0.851) NULL RYR3 6263 genome.wustl.edu 37 15 34130266 34130266 + Missense_Mutation SNP C C A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001036.3 +1 validated p.L4029I 1.000 75 0% 90 17.8% 0 - probably_damaging(0.998) - - NULL GJD2 57369 genome.wustl.edu 37 15 35045197 35045197 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_020660.1 -1 provisional p.V150M 1.000 75 0% 67 22.4% 0 - benign(0.006) tolerated(0.24) neutral(0.037) NULL FAM92A1P1 729073 genome.wustl.edu 37 15 41455618 41455618 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 ENST00000287660 +1 known p.E87K 0.987 64 0% 83 39.8% 0 - - - - HMMPfam_DUF1208 MGA 23269 genome.wustl.edu 37 15 41962043 41962043 + Silent SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001080541.2 +1 validated p.S317 0.944 239 0% 244 10.7% 1 100% - - - NULL MGA 23269 genome.wustl.edu 37 15 42003484 42003484 + Silent SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001080541.2 +1 validated p.K1007 1.000 62 0% 92 41.3% 2 50% - - - NULL TTBK2 146057 genome.wustl.edu 37 15 43038149 43038149 + Silent SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_173500.3 -1 reviewed p.S1193 1.000 304 0% 486 21% 2 50% - - - NULL CASC4 113201 genome.wustl.edu 37 15 44695246 44695246 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_138423.2 +1 reviewed p.V412I 1.000 120 0% 343 41.4% 20 60% possibly_damaging(0.882) deleterious(0) deleterious(0.789) NULL MYEF2 50804 genome.wustl.edu 37 15 48443671 48443671 + Silent SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_016132.3 -1 validated p.L435 1.000 310 0% 348 15.8% 24 25% - - - NULL SLC12A1 6557 genome.wustl.edu 37 15 48593519 48593519 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_000338.2 +1 reviewed p.R1035H 1.000 108 0% 153 20.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ATP8B4 79895 genome.wustl.edu 37 15 50279722 50279722 + Missense_Mutation SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_024837.2 -1 validated p.N205S 1.000 111 0% 193 36.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_E1-E2_ATPase,superfamily_SSF81653,superfamily_SSF81665 ITGA11 22801 genome.wustl.edu 37 15 68620498 68620498 + Silent SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001004439.1 -1 reviewed p.C668 1.000 89 0% 153 11.8% 10 0% - - - HMMPfam_Integrin_alpha2,superfamily_Integrin domains KIF23 9493 genome.wustl.edu 37 15 69732334 69732334 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_138555.1 +1 reviewed p.R602Q 1.000 271 0% 380 11.6% 3 33.3% benign(0.041) tolerated(1) neutral(0.003) NULL MAN2C1 4123 genome.wustl.edu 37 15 75648330 75648330 + Missense_Mutation SNP G G T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_006715.2 -1 validated p.L1014I 0.002 93 0% 76 13.2% 50 20% benign(0.021) tolerated(0.25) neutral(0.038) HMMPfam_Glyco_hydro_38C ACAN 176 genome.wustl.edu 37 15 89400743 89400743 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_013227.3 +1 reviewed p.P1528S 0.982 63 0% 55 20% 2 0% benign(0.005) tolerated(0.29) neutral(0.029) NULL RHCG 51458 genome.wustl.edu 37 15 90016028 90016036 + In_Frame_Del DEL CTGAGGGTC CTGAGGGTC - novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 CTGAGGGTC CTGAGGGTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_016321.1 -1 provisional p.GPS457in_frame_del 0.000:0.000:0.001:0.000:0.000:0.004:0.000:0.000:0.000 - - - - - - - - - NULL ENSG00000214394 0 genome.wustl.edu 37 15 100332619 100332619 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 ENST00000398270 +1 known p.S79N 0.999 99 0% 170 10% 0 - - - - NULL ACSM2A 123876 genome.wustl.edu 37 16 20494407 20494407 + Missense_Mutation SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001010845.2 +1 validated p.S513P 0.928 366 0% 586 33.1% 0 - benign(0) tolerated(1) - superfamily_Acetyl-CoA synthetase-like DCUN1D3 123879 genome.wustl.edu 37 16 20873795 20873795 + Silent SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_173475.2 -1 validated p.R22 1.000 234 0% 273 15.4% 3 33.3% - - - NULL ENSG00000248124 0 genome.wustl.edu 37 16 21831680 21831680 + RNA DEL A A - rs140138439 byCluster;by1000genomes TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 ENST00000514813 -1 novel NULL 0.645 - - - - - - - - - - ENSG00000198229 0 genome.wustl.edu 37 16 32077607 32077607 + Silent SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 ENST00000354689 +1 known p.N74 0.909 238 0% 317 15.1% 0 - - - - HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin LONP2 83752 genome.wustl.edu 37 16 48296766 48296766 + Nonsense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_031490.2 +1 provisional p.W322* 1.000 197 0% 214 34.6% 4 0% - - - superfamily_SSF52540 NKD1 85407 genome.wustl.edu 37 16 50667175 50667175 + Missense_Mutation SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_033119.3 +1 provisional p.E299G 1.000 127 0% 129 33.3% 4 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL MT1M 4499 genome.wustl.edu 37 16 56667745 56667745 + Missense_Mutation SNP C C G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_176870.2 +1 validated p.C59W 0.981 135 0% 160 20% 1 0% possibly_damaging(0.887) deleterious(0) deleterious(0.791) HMMPfam_Metallothio,superfamily_Metallothionein_sfam CX3CL1 6376 genome.wustl.edu 37 16 57416764 57416764 + Silent SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_002996.3 +1 provisional p.T338 0.901 88 0% 91 37.4% 56 44.6% - - - NULL CNOT1 23019 genome.wustl.edu 37 16 58583783 58583783 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_016284.3 -1 validated p.T1121M 1.000 173 0% 183 40.4% 5 20% possibly_damaging(0.909) tolerated(0.23) neutral(0.403) NULL GOT2 2806 genome.wustl.edu 37 16 58752173 58752173 + Missense_Mutation SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_002080.2 -1 reviewed p.H210R 1.000 138 0% 189 43.4% 54 46.2% benign(0) deleterious(0.02) neutral(0.383) HMMPfam_Aminotran_1_2,superfamily_PLP-dependent transferases CTCF 10664 genome.wustl.edu 37 16 67646012 67646013 + Frame_Shift_Ins INS - - AC novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_006565.2 +1 reviewed p.T318fs 1.000:1.000 - - - - - - - - - superfamily_C2H2 and C2HC zinc fingers CTCF 10664 genome.wustl.edu 37 16 67655479 67655479 + Nonsense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_006565.2 +1 reviewed p.R448* 1.000 264 0% 394 13.7% 15 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers HYDIN 54768 genome.wustl.edu 37 16 70918018 70918018 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_032821.2 -1 validated p.A3261T 0.904 93 0% 144 34.7% 2 50% benign(0) tolerated(0.75) neutral(0.002) NULL TAT 6898 genome.wustl.edu 37 16 71606455 71606455 + Missense_Mutation SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_000353.2 -1 reviewed p.E182G 1.000 149 0% 138 21% 0 - benign(0.045) deleterious(0.04) neutral(0.351) HMMPfam_Aminotran_1_2,superfamily_PLP-dependent transferases ZZEF1 23140 genome.wustl.edu 37 17 4007995 4007995 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_015113.3 -1 validated p.T502M 0.998 94 0% 411 25.1% 2 100% possibly_damaging(0.944) tolerated(0.22) neutral(0.430) NULL WSCD1 23302 genome.wustl.edu 37 17 6023766 6023766 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_015253.1 +1 validated p.V505M 1.000 50 0% 46 19.6% 2 50% possibly_damaging(0.915) deleterious(0.01) deleterious(0.772) superfamily_SSF52540 ALOX12 239 genome.wustl.edu 37 17 6909220 6909220 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_000697.2 +1 validated p.R431Q 0.982 57 0% 159 11.9% 0 - benign(0.008) tolerated(0.24) neutral(0.037) HMMPfam_Lipoxygenase,superfamily_Lipoxygenase C17orf49 124944 genome.wustl.edu 37 17 6920605 6920605 + Missense_Mutation SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001142798.1 +1 validated p.M182V 0.999 346 0% 611 25.9% 236 31.7% benign(0.01) deleterious(0.02) neutral(0.384) NULL DNAH2 146754 genome.wustl.edu 37 17 7663220 7663220 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_020877.2 +1 validated p.R917C 0.909 478 0% 744 26.6% 0 - benign(0.001) deleterious(0.03) neutral(0.364) superfamily_Spectrin repeat DNAH2 146754 genome.wustl.edu 37 17 7671305 7671305 + Missense_Mutation SNP C C A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_020877.2 +1 validated p.L1255M 1.000 67 0% 161 24.2% 0 - probably_damaging(0.986) tolerated(0.19) deleterious(0.484) HMMPfam_DHC_N2 DNAH2 146754 genome.wustl.edu 37 17 7710589 7710589 + Silent SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_020877.2 +1 validated p.R3188 0.000 90 0% 178 29.2% 1 100% - - - NULL AURKB 9212 genome.wustl.edu 37 17 8108285 8108285 + Silent SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_004217.2 -1 validated p.S313 0.000 94 0% 231 19.9% 28 14.2% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase MYH13 8735 genome.wustl.edu 37 17 10216654 10216654 + Silent SNP C C T rs182736288 by1000genomes TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_003802.2 -1 validated p.A1334 0.999 256 0.4% 282 10.6% 0 - - - - HMMPfam_Myosin_tail_1 MYH4 4622 genome.wustl.edu 37 17 10358321 10358321 + Missense_Mutation SNP C C T rs144778193 by1000genomes TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_017533.2 -1 validated p.R791H 0.838 44 0% 98 31.6% 0 - benign(0.011) tolerated(0.54) neutral(0.008) HMMSmart_IQ,superfamily_SSF52540 MYH1 4619 genome.wustl.edu 37 17 10416221 10416221 + Missense_Mutation SNP A A C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_005963.3 -1 reviewed p.F289L 1.000 257 0% 353 17% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 SHISA6 388336 genome.wustl.edu 37 17 11461430 11461430 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_207386.3 +1 validated p.R489C 1.000 59 0% 107 24.3% 0 - probably_damaging(1) tolerated(0.08) deleterious(0.800) NULL DNAH9 1770 genome.wustl.edu 37 17 11651018 11651018 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001372.3 +1 reviewed p.P2182L 1.000 68 0% 168 23.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases DHRS7B 25979 genome.wustl.edu 37 17 21075455 21075455 + Missense_Mutation SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_015510.3 +1 validated p.Y49H 0.999 52 0% 59 22% 57 24.5% probably_damaging(0.956) tolerated(0.51) neutral(0.409) NULL ZNF207 7756 genome.wustl.edu 37 17 30696705 30696705 + Missense_Mutation SNP C C A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001098507.1 +1 validated p.P471H 1.000 132 0% 203 18.7% 231 27.2% unknown(0) deleterious(0) - NULL ENSG00000226049 0 genome.wustl.edu 37 17 32365902 32365902 + Missense_Mutation SNP G G C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 ENST00000430493 -1 known p.Q273E 0.959 273 0% 203 21.2% 2 0% - - - NULL TMEM132E 124842 genome.wustl.edu 37 17 32964326 32964326 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_207313.1 +1 provisional p.R677Q 1.000 35 0% 21 28.6% 0 - benign(0.142) tolerated(0.58) neutral(0.017) NULL MYO19 80179 genome.wustl.edu 37 17 34863727 34863727 + Missense_Mutation SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_025109.5 -1 validated p.D423G 0.003 61 0% 107 10.3% 7 14.2% benign(0) tolerated(0.08) neutral(0.300) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 GPR179 440435 genome.wustl.edu 37 17 36486428 36486428 + Silent SNP G G T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001004334.2 -1 validated p.P1008 0.028 31 0% 60 20% 0 - - - - NULL CACNB1 782 genome.wustl.edu 37 17 37331531 37331531 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_000723.3 -1 reviewed p.R571H 1.000 71 0% 184 27.7% 3 0% possibly_damaging(0.942) deleterious(0) deleterious(0.832) NULL KRT16 3868 genome.wustl.edu 37 17 39768852 39768852 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_005557.3 -1 reviewed p.R30H 0.204 139 0% 133 20.3% 0 - unknown(0) deleterious(0) - NULL HSD17B1 3292 genome.wustl.edu 37 17 40705511 40705511 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_000413.2 +1 validated p.A107V 0.002 34 0% 54 24.1% 26 42.3% possibly_damaging(0.85) tolerated(0.23) neutral(0.368) HMMPfam_adh_short,superfamily_NAD(P)-binding Rossmann-fold domains NME1 4830 genome.wustl.edu 37 17 49239204 49239204 + Nonstop_Mutation SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_198175.1 +1 reviewed p.*178R 1.000 167 0% 385 23.1% 430 16.5% - - - NULL CLTC 1213 genome.wustl.edu 37 17 57761095 57761095 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_004859.3 +1 reviewed p.R1434H 1.000 215 0% 360 26.7% 220 35% probably_damaging(0.985) deleterious(0) deleterious(0.877) HMMPfam_Clathrin,HMMSmart_SM00299,superfamily_ARM repeat RPS6KB1 6198 genome.wustl.edu 37 17 58011589 58011590 + Frame_Shift_Del DEL CA CA - novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_003161.2 +1 reviewed p.T252fs 1.000:1.000 - - - - - - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase INTS2 57508 genome.wustl.edu 37 17 59984803 59984803 + Missense_Mutation SNP G G T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_020748.2 -1 validated p.L391M 1.000 159 0% 419 16.5% 2 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL TMC6 11322 genome.wustl.edu 37 17 76109696 76109696 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001127198.1 -1 reviewed p.D763N 1.000 67 0% 90 14.4% 28 3.5% probably_damaging(0.991) tolerated(0.35) neutral(0.465) NULL EIF4A3 9775 genome.wustl.edu 37 17 78111190 78111190 + Silent SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_014740.3 -1 reviewed p.G326 0.381 158 0% 524 27.9% 163 26.3% - - - HMMPfam_Helicase_C,HMMSmart_HELICc,superfamily_SSF52540 RPTOR 57521 genome.wustl.edu 37 17 78617612 78617612 + Splice_Site SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_020761.2 +1 reviewed e3+2 1.000 131 0% 169 12.4% 0 - - - - - METTL4 64863 genome.wustl.edu 37 18 2539073 2539073 + Missense_Mutation SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_022840.3 -1 validated p.W449R 1.000 204 0% 213 28.6% 6 83.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MT-A70 TUBB6 84617 genome.wustl.edu 37 18 12325675 12325675 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_032525.1 +1 provisional p.A296V 1.000 56 0% 38 28.9% 27 18.5% benign(0.085) deleterious(0) neutral(0.451) superfamily_Tub_FtsZ_C,HMMPfam_Tubulin_C RBBP8 5932 genome.wustl.edu 37 18 20577587 20577587 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_002894.2 +1 reviewed p.G678D 0.940 140 0% 117 29.9% 30 50% benign(0) tolerated(0.32) neutral(0.024) NULL DSC2 1824 genome.wustl.edu 37 18 28669485 28669485 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_024422.3 -1 reviewed p.R183W 0.000 169 0% 213 38% 6 83.3% possibly_damaging(0.836) tolerated(0.08) deleterious(0.619) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FHOD3 80206 genome.wustl.edu 37 18 34238078 34238078 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_025135.2 +1 validated p.P413S 0.001 322 0% 360 16.9% 2 0% possibly_damaging(0.448) tolerated(0.49) neutral(0.157) NULL SETBP1 26040 genome.wustl.edu 37 18 42618465 42618465 + Missense_Mutation SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_015559.2 +1 validated p.H1339R 1.000 211 0% 441 16.6% 0 - probably_damaging(0.959) deleterious(0.02) deleterious(0.786) NULL LOXHD1 125336 genome.wustl.edu 37 18 44139514 44139514 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_144612.6 -1 reviewed p.T760I 1.000 176 0% 250 16.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PLAT,HMMSmart_LH2,superfamily_Lipase_LipOase NEDD4L 23327 genome.wustl.edu 37 18 55996314 55996314 + Missense_Mutation SNP C C A rs183766749 by1000genomes TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001144967.1 +1 validated p.S256R 0.766 42 0% 59 11.9% 11 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ALPK2 115701 genome.wustl.edu 37 18 56203428 56203428 + Silent SNP G G T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_052947.3 -1 validated p.R1331 0.003 89 0% 79 13.9% 1 0% - - - NULL CDH7 1005 genome.wustl.edu 37 18 63511232 63511232 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_004361.2 +1 reviewed p.A389V 0.996 147 0% 204 17.2% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_Cadherin,superfamily_Cadherin-like RTTN 25914 genome.wustl.edu 37 18 67672445 67672445 + Missense_Mutation SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_173630.3 -1 validated p.L2195S 0.993 412 0% 540 36.5% 3 66.6% benign(0) tolerated(0.49) neutral(0.011) NULL FAM69C 125704 genome.wustl.edu 37 18 72113871 72113871 + Silent SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001044369.2 -1 validated p.P282 0.235 45 0% 63 34.9% 0 - - - - NULL MBP 4155 genome.wustl.edu 37 18 74692415 74692415 + Missense_Mutation SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001025101.1 -1 reviewed p.S295G 0.978 70 0% 94 39.4% 0 - possibly_damaging(0.786) deleterious(0) deleterious(0.739) HMMPfam_Myelin_MBP MBP 4155 genome.wustl.edu 37 18 74778254 74778254 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001025101.1 -1 reviewed p.G47R 0.909 172 0% 195 32.8% 36 52.7% benign(0.047) deleterious(0) neutral(0.448) NULL ATP9B 374868 genome.wustl.edu 37 18 76873280 76873280 + Missense_Mutation SNP T T A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_198531.3 +1 validated p.F162I 1.000 136 0% 174 39.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL EEF2 1938 genome.wustl.edu 37 19 3981983 3981983 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001961.3 -1 reviewed p.R287C 0.913 34 0% 38 39.5% 1040 46.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GTP_EFTU,superfamily_P-loop containing nucleoside triphosphate hydrolases PTPRS 5802 genome.wustl.edu 37 19 5258063 5258063 + Missense_Mutation SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_002850.3 -1 reviewed p.V224A 1.000 75 0% 79 31.6% 131 54.1% probably_damaging(0.957) tolerated(0.12) deleterious(0.661) HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin FUT3 2525 genome.wustl.edu 37 19 5844598 5844598 + Missense_Mutation SNP C C G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_000149.3 -1 reviewed p.V85L 0.000 98 0% 90 35.6% 2 100% benign(0) tolerated(0.77) neutral(0.001) HMMPfam_Glyco_transf_10 TUBB4A 10382 genome.wustl.edu 37 19 6501636 6501636 + Splice_Site SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_006087.2 -1 provisional e2-2 0.995 99 0% 137 10.9% 0 - - - - - STXBP2 6813 genome.wustl.edu 37 19 7712321 7712321 + Silent SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_006949.2 +1 reviewed p.G540 0.091 21 0% 35 45.7% 89 39.3% - - - HMMPfam_Sec1,superfamily_Sec1/munc18-like (SM) proteins MUC16 94025 genome.wustl.edu 37 19 9057122 9057122 + Silent SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_024690.2 -1 validated p.G10108 0.000 125 0% 179 20.7% 0 - - - - NULL TSPAN16 26526 genome.wustl.edu 37 19 11409564 11409564 + Missense_Mutation SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_012466.2 +1 reviewed p.V95A 0.002 96 0% 184 12% 0 - possibly_damaging(0.844) tolerated(0.13) deleterious(0.576) HMMPfam_Tetraspannin LPHN1 22859 genome.wustl.edu 37 19 14263122 14263122 + Silent SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001008701.2 -1 reviewed p.P1221 1.000 105 0% 157 33.8% 22 59% - - - HMMPfam_Latrophilin OR1I1 126370 genome.wustl.edu 37 19 15198697 15198697 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001004713.1 +1 provisional p.A274V 0.010 133 0% 192 17.7% 0 - probably_damaging(0.996) tolerated(0.11) deleterious(0.733) HMMPfam_7tm_1,superfamily_SSF81321 EPS15L1 58513 genome.wustl.edu 37 19 16496008 16496008 + Missense_Mutation SNP A A T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_021235.1 -1 provisional p.L727I 0.031 36 0% 49 28.6% 15 26.6% possibly_damaging(0.872) tolerated(0.24) neutral(0.377) NULL ELL 8178 genome.wustl.edu 37 19 18569135 18569135 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_006532.3 -1 validated p.A250V 1.000 28 0% 55 34.5% 16 18.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ELL GPATCH1 55094 genome.wustl.edu 37 19 33584391 33584391 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_018025.2 +1 provisional p.A141T 1.000 82 0% 126 11.9% 2 0% benign(0.015) tolerated(0.67) neutral(0.003) NULL CHST8 64377 genome.wustl.edu 37 19 34263410 34263410 + Silent SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001127895.1 +1 validated p.F239 1.000 10 0% 24 37.5% 0 - - - - HMMPfam_Sulfotransfer_2 RYR1 6261 genome.wustl.edu 37 19 38956904 38956904 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_000540.2 +1 reviewed p.R1015H 0.996 70 0% 96 24% 0 - probably_damaging(0.995) - - HMMPfam_RyR PLD3 23646 genome.wustl.edu 37 19 40873764 40873764 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001031696.2 +1 validated p.T136M 1.000 18 0% 30 23.3% 190 29.4% probably_damaging(0.985) tolerated(0.22) deleterious(0.474) superfamily_SSF56024 ZNF526 116115 genome.wustl.edu 37 19 42729223 42729223 + Missense_Mutation SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_133444.1 +1 provisional p.L223P 0.603 113 0% 184 10.3% 5 20% probably_damaging(0.991) tolerated(0.28) deleterious(0.476) superfamily_C2H2 and C2HC zinc fingers PGLYRP1 8993 genome.wustl.edu 37 19 46526032 46526032 + Missense_Mutation SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_005091.2 -1 validated p.Y83C 0.884 51 0% 56 19.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Amidase_2,HMMSmart_Ami_2,superfamily_Amidase_2,HMMSmart_PGRP SLC8A2 6543 genome.wustl.edu 37 19 47969174 47969174 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_015063.2 -1 validated p.G163S 0.997 28 0% 45 44.4% 0 - benign(0.056) tolerated(1) neutral(0.004) HMMPfam_Na_Ca_ex KCNC3 3748 genome.wustl.edu 37 19 50827145 50827145 + Silent SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_004977.2 -1 reviewed p.C355 1.000 64 0% 114 36% 5 40% - - - HMMPfam_Ion_trans,superfamily_SSF81324 ASPDH 554235 genome.wustl.edu 37 19 51017736 51017736 + Silent SNP T T G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001024656.2 -1 validated p.R11 0.970 161 0% 234 35.5% 0 - - - - NULL ZSCAN5B 342933 genome.wustl.edu 37 19 56701626 56701626 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001080456.2 -1 validated p.P353L 0.000 335 0% 413 14% 0 - benign(0) tolerated(0.48) neutral(0.011) superfamily_SSF57667 NRSN2 80023 genome.wustl.edu 37 20 334251 334251 + Missense_Mutation SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_024958.2 +1 validated p.Q196R 1.000 93 0% 221 33.9% 37 40.5% possibly_damaging(0.832) deleterious(0) deleterious(0.762) NULL PTPRA 5786 genome.wustl.edu 37 20 2985775 2985775 + Missense_Mutation SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_002836.3 +1 reviewed p.Y271C 1.000 463 0.2% 563 20.1% 18 16.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799 FERMT1 55612 genome.wustl.edu 37 20 6057923 6057923 + Missense_Mutation SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_017671.4 -1 reviewed p.H644R 1.000 90 0% 118 32.2% 5 40% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL C20orf94 128710 genome.wustl.edu 37 20 10541391 10541391 + Missense_Mutation SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001009608.1 +1 validated p.Q54R 1.000 150 0% 159 32.1% 1 0% benign(0.013) tolerated(0.4) neutral(0.017) NULL NAA20 51126 genome.wustl.edu 37 20 20007525 20007525 + Silent SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_016100.3 +1 validated p.A89 1.000 478 0% 438 19.6% 110 30% - - - HMMPfam_Acetyltransf_1,superfamily_Acyl-CoA N-acyltransferases (Nat) NDRG3 57446 genome.wustl.edu 37 20 35335380 35335380 + Missense_Mutation SNP A A C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_032013.2 -1 validated p.C30G 1.000 86 0% 145 34.5% 11 54.5% benign(0) tolerated(0.35) neutral(0.021) superfamily_alpha/beta-Hydrolases C20orf132 140699 genome.wustl.edu 37 20 35731161 35731161 + Nonsense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 ENST00000343811 -1 known p.W1046* 0.001 136 0% 268 13.4% 1 0% benign(0.14) tolerated(0.14) neutral(0.262) NULL PTPRT 11122 genome.wustl.edu 37 20 40877391 40877391 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_133170.3 -1 reviewed p.V769M 1.000 153 0% 318 34.3% 0 - probably_damaging(0.974) deleterious(0.04) deleterious(0.765) NULL SEMG1 6406 genome.wustl.edu 37 20 43836412 43836412 + Silent SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_003007.3 +1 reviewed p.Q158 0.001 155 0% 244 34.8% 0 - - - - HMMPfam_Semenogelin C20orf43 51507 genome.wustl.edu 37 20 55088375 55088375 + Missense_Mutation SNP G G T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_016407.3 +1 validated p.G161V 0.999 166 0% 220 23.2% 78 20.5% probably_damaging(1) tolerated(0.19) deleterious(0.549) HMMPfam_DUF602 CTCFL 140690 genome.wustl.edu 37 20 56093924 56093924 + Missense_Mutation SNP C C T rs143392924 TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_080618.2 -1 reviewed p.D317N 1.000 61 0% 131 15.3% 0 - possibly_damaging(0.827) tolerated(0.07) deleterious(0.633) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CTCFL 140690 genome.wustl.edu 37 20 56094333 56094333 + Silent SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_080618.2 -1 reviewed p.H285 0.056 45 0% 110 19.1% 0 - - - - HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers RAB22A 57403 genome.wustl.edu 37 20 56934722 56934722 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_020673.2 +1 reviewed p.R183Q 0.996 100 0% 139 10.8% 18 11.1% benign(0.044) tolerated(0.67) neutral(0.005) HMMSmart_SM00176,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAJC5 80331 genome.wustl.edu 37 20 62562311 62562311 + Silent SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_025219.1 +1 provisional p.G143 0.982 39 0% 74 41.9% 43 46.5% - - - NULL LOC100288017 100288017 genome.wustl.edu 37 21 14568577 14568577 + Silent SNP C C T rs138720314 by1000genomes TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 XM_002343737.1 +1 model p.D70 0.007 4 0.000 28 0.429 0 - - - - NULL CXADR 1525 genome.wustl.edu 37 21 18919407 18919407 + Missense_Mutation SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001338.3 +1 reviewed p.T36A 1.000 77 0% 122 30.3% 28 46.4% benign(0.143) tolerated(0.16) neutral(0.072) HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin CBR1 873 genome.wustl.edu 37 21 37444776 37444776 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001757.2 +1 reviewed p.V144I 0.000 47 0% 60 26.7% 92 44.5% benign(0) tolerated(0.42) neutral(0.014) HMMPfam_adh_short,superfamily_NAD(P)-binding Rossmann-fold domains RIPK4 54101 genome.wustl.edu 37 21 43161792 43161792 + Frame_Shift_Del DEL G G - novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_020639.2 -1 reviewed p.R521fs 0.882 - - - - - - - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK C21orf56 84221 genome.wustl.edu 37 21 47588451 47588451 + Silent SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001142854.1 -1 validated p.G105 0.880 18 0% 39 38.5% 21 47.6% - - - NULL IGLV2-33 28811 genome.wustl.edu 37 22 22931030 22931030 + Silent SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 ENST00000390302 +1 known p.R75 0.000 219 0% 305 14.1% 0 - - - - HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin MMP11 4320 genome.wustl.edu 37 22 24121572 24121572 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_005940.3 +1 reviewed p.G103R 0.982 15 0% 17 41.2% 196 2.5% unknown(0) deleterious(0) - "HMMSmart_SM00235,superfamily_Metalloproteases (""zincins"") catalytic domain" UPB1 51733 genome.wustl.edu 37 22 24909392 24909392 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_016327.2 +1 reviewed p.S187F 0.992 68 0% 92 19.6% 0 - benign(0.008) deleterious(0) neutral(0.445) HMMPfam_CN_hydrolase,superfamily_Carbon-nitrogen hydrolase GAS2L1 10634 genome.wustl.edu 37 22 29704500 29704500 + Silent SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_152237.1 +1 reviewed p.S135 0.981 38 0% 31 32.3% 41 21.9% - - - HMMPfam_CH,HMMSmart_CH,superfamily_Calponin-homology NEFH 4744 genome.wustl.edu 37 22 29884940 29884940 + Missense_Mutation SNP G G T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_021076.3 +1 reviewed p.K437N 0.673 114 0% 168 36.9% 0 - unknown(0) deleterious(0) - NULL TCN2 6948 genome.wustl.edu 37 22 31011414 31011414 + Missense_Mutation SNP C C A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_000355.3 +1 reviewed p.P236H 0.974 43 0% 54 42.6% 71 40.8% probably_damaging(0.987) deleterious(0.02) deleterious(0.820) HMMPfam_Cobalamin_bind LIMK2 3985 genome.wustl.edu 37 22 31672948 31672948 + Missense_Mutation SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001031801.1 +1 reviewed p.E628G 0.997 62 0% 32 18.8% 6 33.3% benign(0.034) deleterious(0.02) neutral(0.385) HMMPfam_PP1_inhibitor,superfamily_PP1_inhibitor TRIOBP 11078 genome.wustl.edu 37 22 38151582 38151582 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001039141.2 +1 reviewed p.S1868L 1.000 27 0% 18 27.8% 76 10.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like SREBF2 6721 genome.wustl.edu 37 22 42262951 42262951 + Missense_Mutation SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_004599.2 +1 reviewed p.S69G 0.048 83 0% 96 17.7% 35 22.8% benign(0) tolerated(0.49) neutral(0.011) NULL CELSR1 9620 genome.wustl.edu 37 22 46859781 46859781 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_014246.1 -1 reviewed p.V1336M 1.000 16 0% 46 28.3% 21 57.1% probably_damaging(0.977) deleterious(0) deleterious(0.863) HMMPfam_EGF,HMMSmart_SM00181,superfamily_EGF/Laminin TBC1D22A 25771 genome.wustl.edu 37 22 47433077 47433077 + Missense_Mutation SNP C C A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_014346.1 +1 provisional p.L438M 1.000 9 0.000 23 0.217 32 12.5% probably_damaging(1) tolerated(0.3) deleterious(0.528) HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p MAP3K15 389840 genome.wustl.edu 37 X 19482522 19482522 + Silent SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 ENST00000338883 -1 known p.A176 0.997 93 0% 166 13.3% 0 - - - - NULL CNKSR2 22866 genome.wustl.edu 37 X 21550031 21550031 + Silent SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_014927.3 +1 reviewed p.P383 0.996 144 0% 190 19.5% 0 - - - - HMMPfam_DUF1170 PTCHD1 139411 genome.wustl.edu 37 X 23412108 23412108 + Missense_Mutation SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_173495.2 +1 validated p.R825G 1.000 187 0% 268 31.3% 0 - probably_damaging(0.969) deleterious(0) deleterious(0.856) HMMPfam_Patched,superfamily_Multidrug efflux transporter AcrB transmembrane domain KLHL15 80311 genome.wustl.edu 37 X 24006124 24006124 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_030624.2 -1 reviewed p.R577W 0.988 123 0% 195 33.8% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Kelch_1,HMMSmart_Kelch BCOR 54880 genome.wustl.edu 37 X 39921444 39921444 + Missense_Mutation SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001123385.1 -1 reviewed p.N1459S 1.000 83 0% 96 32.3% 12 75% probably_damaging(0.985) deleterious(0) deleterious(0.877) superfamily_Ankyrin repeat RGN 9104 genome.wustl.edu 37 X 46949214 46949214 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_004683.4 +1 reviewed p.R129Q 1.000 73 0% 77 37.7% 0 - probably_damaging(0.964) tolerated(0.3) neutral(0.435) HMMPfam_SGL,superfamily_Calcium-dependent phosphotriesterase USP27X 389856 genome.wustl.edu 37 X 49644931 49644931 + Silent SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_001145073.1 +1 provisional p.Y7 1.000 41 0% 16 62.5% 3 100% - - - NULL HUWE1 10075 genome.wustl.edu 37 X 53627121 53627121 + Silent SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 ENST00000427052 -1 known p.S74G 0.999 252 0% 584 19.7% 15 46.6% - - - NULL APEX2 27301 genome.wustl.edu 37 X 55033780 55033780 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_014481.2 +1 reviewed p.R490H 1.000 15 0% 19 42.1% 32 93.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-GRF HEPH 9843 genome.wustl.edu 37 X 65428014 65428014 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_138737.3 +1 reviewed p.A833V 1.000 189 0% 359 15.6% 5 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Cupredoxins LOC100288033 100288033 genome.wustl.edu 37 X 70887941 70887941 + Silent SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 XM_002343818.1 +1 model p.A96 0.000 61 0% 53 37.7% 0 - - - - NULL SLC16A2 6567 genome.wustl.edu 37 X 73751373 73751373 + Silent SNP T T C novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_006517.3 +1 reviewed p.P609 0.990 241 0% 247 25.5% 4 0% - - - NULL NXT2 55916 genome.wustl.edu 37 X 108779158 108779158 + Missense_Mutation SNP A A G novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_018698.3 +1 provisional p.Y16C 0.000 215 0% 306 10.8% 0 - benign(0.001) - - NULL MAGEC2 51438 genome.wustl.edu 37 X 141291755 141291755 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_016249.3 -1 reviewed p.V7I 0.000 239 0% 244 12.7% 0 - benign(0.053) tolerated(0.15) neutral(0.244) NULL AFF2 2334 genome.wustl.edu 37 X 148037373 148037373 + Missense_Mutation SNP C C T novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_002025.3 +1 reviewed p.P600S 0.996 114 0% 80 18.8% 0 - probably_damaging(0.998) tolerated(0.57) deleterious(0.480) HMMPfam_AF-4 AFF2 2334 genome.wustl.edu 37 X 148072845 148072845 + Missense_Mutation SNP G G A novel TCGA-BG-A0M4-01A-11W-A10C-09 TCGA-BG-A0M4-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1b449394-0346-42d0-a2c2-ea0d4bc6f817 262e378b-f303-4219-8571-088403ae6b35 NM_002025.3 +1 reviewed p.D1307N 0.998 97 0% 96 38.5% 0 - possibly_damaging(0.888) deleterious(0.02) deleterious(0.730) HMMPfam_AF-4