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 PLCH2 9651 genome.wustl.edu 37 1 2430589 2430589 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_014638.2 +1 provisional p.R834H 1.000 67 0% 66 27.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) TP73 7161 genome.wustl.edu 37 1 3647612 3647612 + Nonsense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001126242.1 +1 reviewed p.R391* 0.267 31 0% 25 48% 10 60% - - - NULL GPR153 387509 genome.wustl.edu 37 1 6311467 6311467 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_207370.2 -1 validated p.R304W 1.000 43 0% 42 40.5% 19 57.8% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF81321 PLEKHG5 57449 genome.wustl.edu 37 1 6556583 6556583 + Silent SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_198681.2 -1 reviewed p.P38 0.298 113 0% 114 22.8% 4 25% - - - NULL RERE 473 genome.wustl.edu 37 1 8482823 8482825 + In_Frame_Del DEL GAA GAA - novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001042681.1 -1 reviewed p.F416in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMSmart_SM00717,superfamily_Homeodomain-like,HMMPfam_Myb_DNA-binding PLEKHM2 23207 genome.wustl.edu 37 1 16055611 16055611 + Silent SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_015164.2 +1 validated p.Q667 1.000 147 0% 117 13.7% 43 23.2% - - - NULL RSG1 79363 genome.wustl.edu 37 1 16560219 16560219 + Nonstop_Mutation SNP A A G novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b ENST00000434014 -1 known p.*24R 0.464 48 0% 48 14.6% 9 33.3% unknown(0) - - NULL IFFO2 126917 genome.wustl.edu 37 1 19244897 19244897 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001136265.1 -1 validated p.A308T 1.000 189 0% 220 33.2% 11 54.5% probably_damaging(0.995) tolerated(0.13) deleterious(0.710) HMMPfam_Filament EXTL1 2134 genome.wustl.edu 37 1 26349521 26349521 + Silent SNP T T C novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_004455.2 +1 reviewed p.P128 0.000 95 0% 64 17.2% 0 - - - - HMMPfam_Exostosin PUM1 9698 genome.wustl.edu 37 1 31454254 31454254 + Splice_Site SNP T T C novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001020658.1 -1 reviewed e7-2 1.000 71 0% 84 14.3% 3 33.3% - - - - MPL 4352 genome.wustl.edu 37 1 43804289 43804289 + Missense_Mutation SNP G G T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_005373.2 +1 reviewed p.D97Y 0.999 169 0% 123 13% 0 - possibly_damaging(0.497) tolerated(0.07) deleterious(0.485) superfamily_Fibronectin type III,HMMPfam_EpoR_lig-bind SZT2 23334 genome.wustl.edu 37 1 43890851 43890851 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_015284.2 +1 predicted p.P31L 1.000 199 0% 160 26.9% 4 100% probably_damaging(0.983) deleterious(0) deleterious(0.873) NULL KLF17 128209 genome.wustl.edu 37 1 44595294 44595294 + Missense_Mutation SNP G G C novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_173484.3 +1 validated p.M117I 0.000 106 0% 79 27.8% 0 - benign(0) tolerated(0.37) neutral(0.019) NULL FAAH 2166 genome.wustl.edu 37 1 46879175 46879175 + Nonsense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001441.2 +1 reviewed p.W556* 1.000 241 0% 229 14.4% 43 23.2% - - - HMMPfam_Amidase,superfamily_Amidase_sig_enz DMBX1 127343 genome.wustl.edu 37 1 46976789 46976789 + Silent SNP T T A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_147192.2 +1 reviewed p.A177 0.873 31 0% 28 32.1% 0 - - - - NULL OMA1 115209 genome.wustl.edu 37 1 59004899 59004899 + Missense_Mutation SNP G G T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_145243.3 -1 provisional p.S23Y 0.001 80 0% 68 26.5% 8 25% benign(0.267) deleterious(0) deleterious(0.473) NULL KANK4 163782 genome.wustl.edu 37 1 62734001 62734001 + Missense_Mutation SNP T T A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_181712.4 -1 validated p.E730V 0.000 118 0% 97 26.8% 6 0% benign(0) tolerated(0.23) neutral(0.042) NULL DEPDC1 55635 genome.wustl.edu 37 1 68960179 68960179 + Missense_Mutation SNP T T C novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001114120.1 -1 validated p.H83R 1.000 273 0% 223 27.8% 0 - probably_damaging(0.999) tolerated(0.09) deleterious(0.787) HMMPfam_DEP,HMMSmart_DEP,superfamily_SSF46785 TTLL7 79739 genome.wustl.edu 37 1 84356121 84356121 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_024686.4 -1 validated p.R751H 1.000 124 0% 142 18.3% 4 25% possibly_damaging(0.697) tolerated(0.11) deleterious(0.522) NULL GBP2 2634 genome.wustl.edu 37 1 89578223 89578223 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_004120.3 -1 reviewed p.R432C 0.005 301 0.3% 280 13.6% 65 6.1% benign(0.006) tolerated(0.23) neutral(0.042) HMMPfam_GBP_C,superfamily_GBP SYPL2 284612 genome.wustl.edu 37 1 110019440 110019440 + Silent SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001040709.1 +1 validated p.E99 0.006 266 0% 218 23.9% 2 0% - - - HMMPfam_MARVEL CHIA 27159 genome.wustl.edu 37 1 111854924 111854924 + Silent SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_201653.2 +1 validated p.Y56 0.992 202 0% 208 10.1% 0 - - - - HMMPfam_Glyco_hydro_18,HMMSmart_SM00636,superfamily_(Trans)glycosidases FAM46C 54855 genome.wustl.edu 37 1 118166310 118166310 + Missense_Mutation SNP T T C novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_017709.3 +1 validated p.F274L 1.000 153 0% 132 15.2% 7 42.8% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_DUF1693 NBPF9 400818 genome.wustl.edu 37 1 144822044 144822044 + Silent SNP A A G novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001037675.2 +1 predicted p.H339R 0.003 524 0% 518 7.7% 5 0% - - - NULL FLG 2312 genome.wustl.edu 37 1 152287048 152287048 + Missense_Mutation SNP C C A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_002016.1 -1 reviewed p.S105I 0.000 619 0% 633 18.6% 0 - probably_damaging(0.991) tolerated(0.16) deleterious(0.504) NULL CRNN 49860 genome.wustl.edu 37 1 152382484 152382484 + Silent SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_016190.2 -1 reviewed p.V358 0.022 266 0% 259 28.6% 15 53.3% - - - NULL ASH1L 55870 genome.wustl.edu 37 1 155327509 155327509 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_018489.2 -1 reviewed p.R2276Q 1.000 471 0% 451 18% 8 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL FCRL3 115352 genome.wustl.edu 37 1 157660172 157660172 + Silent SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_052939.3 -1 reviewed p.S521 0.000 140 0% 136 22.8% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin FCRL3 115352 genome.wustl.edu 37 1 157665996 157665996 + Nonsense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_052939.3 -1 reviewed p.W322* 1.000 195 0% 211 11.4% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin ZBTB37 84614 genome.wustl.edu 37 1 173839547 173839547 + Missense_Mutation SNP T T C novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001122770.1 +1 provisional p.S62P 1.000 177 0% 192 19.8% 1 100% probably_damaging(0.999) tolerated(0.11) deleterious(0.762) HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB SERPINC1 462 genome.wustl.edu 37 1 173878963 173878963 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_000488.3 -1 reviewed p.R294C 0.001 83 0% 122 12.3% 0 - possibly_damaging(0.912) tolerated(0.07) deleterious(0.682) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin RC3H1 149041 genome.wustl.edu 37 1 173930366 173930366 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_172071.2 -1 validated p.R740Q 0.978 311 12.5% 346 36.7% 6 33.3% benign(0.404) tolerated(0.26) neutral(0.164) NULL CACNA1E 777 genome.wustl.edu 37 1 181702838 181702838 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_000721.2 +1 reviewed p.V1072I 0.891 39 0% 31 29% 0 - possibly_damaging(0.649) tolerated(0.44) neutral(0.241) NULL TROVE2 6738 genome.wustl.edu 37 1 193051375 193051375 + Silent SNP A A G novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_004600.5 +1 validated p.P421 0.931 296 0% 307 10.4% 8 37.5% - - - NULL RABIF 5877 genome.wustl.edu 37 1 202850313 202850313 + Silent SNP A A G novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_002871.3 -1 provisional p.S55 0.000 128 0% 109 19.3% 26 19.2% - - - HMMPfam_Mss4,superfamily_Mss4-like FMOD 2331 genome.wustl.edu 37 1 203316893 203316893 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_002023.3 -1 reviewed p.R169Q 1.000 135 0% 127 15% 45 4.4% possibly_damaging(0.902) deleterious(0.04) deleterious(0.706) superfamily_SSF52058 TAF1A 9015 genome.wustl.edu 37 1 222757512 222757512 + Silent SNP G G T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_005681.2 -1 reviewed p.T83 0.002 282 0% 314 10.8% 3 33.3% - - - NULL DISP1 84976 genome.wustl.edu 37 1 223177842 223177842 + Missense_Mutation SNP A A G novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_032890.2 +1 reviewed p.N1035D 0.994 288 0.3% 304 10.5% 6 33.3% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Patched,superfamily_SSF82866 LBR 3930 genome.wustl.edu 37 1 225600156 225600156 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_002296.2 -1 reviewed p.G362R 1.000 107 0% 110 23.6% 23 8.6% probably_damaging(0.975) deleterious(0.02) deleterious(0.800) HMMPfam_ERG4_ERG24,PatternScan_STEROL_REDUCT_1 KIF26B 55083 genome.wustl.edu 37 1 245770996 245770996 + Missense_Mutation SNP T T C novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_018012.3 +1 provisional p.V534A 1.000 242 0% 197 15.7% 9 33.3% possibly_damaging(0.942) deleterious(0.02) deleterious(0.770) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases OR2L3 391192 genome.wustl.edu 37 1 248224797 248224798 + Frame_Shift_Ins INS - - T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001004687.1 +1 provisional p.L273fs 0.000:0.000 - - - - - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like SMC6 79677 genome.wustl.edu 37 2 17898377 17898377 + Nonsense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001142286.1 -1 validated p.R387* 0.968 519 0% 482 13.9% 7 0% - - - HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases IFT172 26160 genome.wustl.edu 37 2 27669181 27669181 + Missense_Mutation SNP G G C novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_015662.1 -1 validated p.H1567Q 1.000 196 0% 178 12.4% 63 22.2% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL FAM179A 165186 genome.wustl.edu 37 2 29222316 29222316 + Silent SNP T T C novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_199280.2 +1 validated p.L137 0.954 37 0% 35 11.4% 2 50% - - - NULL C2orf71 388939 genome.wustl.edu 37 2 29294889 29294889 + Silent SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001029883.1 -1 provisional p.L747 0.004 126 0% 122 17.2% 0 - - - - NULL PLEKHH2 130271 genome.wustl.edu 37 2 43937648 43937648 + Silent SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_172069.3 +1 validated p.P745 1.000 261 0% 247 15.4% 2 0% - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like VPS54 51542 genome.wustl.edu 37 2 64211063 64211063 + Missense_Mutation SNP A A T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_016516.2 -1 reviewed p.V24E 1.000 147 0% 139 32.4% 4 75% benign(0.032) tolerated(0.76) neutral(0.003) NULL TET3 200424 genome.wustl.edu 37 2 74274489 74274489 + Missense_Mutation SNP A A G novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_144993.1 +1 provisional p.E347G 0.916 72 0% 52 11.5% 1 0% possibly_damaging(0.797) deleterious(0.01) deleterious(0.705) NULL IGKV1D-8 28904 genome.wustl.edu 37 2 90260230 90260230 + Silent SNP A A G novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b ENST00000471857 +1 known p.Q111 0.923 676 0.1% 606 13.2% 0 - - - - HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin ANKRD23 200539 genome.wustl.edu 37 2 97508103 97508105 + In_Frame_Del DEL TTC TTC - novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_144994.7 -1 reviewed p.K58in_frame_del 0.844:0.858:0.829 - - - - - - - - - NULL LIPT1 51601 genome.wustl.edu 37 2 99778981 99778981 + Silent SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_015929.3 +1 reviewed p.T187 0.000 241 0% 228 25% 9 33.3% - - - NULL ST6GAL2 84620 genome.wustl.edu 37 2 107423223 107423223 + Missense_Mutation SNP C C A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001142351.1 -1 validated p.G501W 0.555 107 0% 98 12.2% 1 0% possibly_damaging(0.776) deleterious(0.01) deleterious(0.695) HMMPfam_Glyco_transf_29 IL36G 56300 genome.wustl.edu 37 2 113742477 113742477 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_019618.2 +1 reviewed p.R121C 0.881 191 0% 196 28.1% 1 100% benign(0.047) deleterious(0) neutral(0.448) HMMPfam_IL1,HMMSmart_SM00125,superfamily_Cytokine MAP3K2 10746 genome.wustl.edu 37 2 128066306 128066306 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_006609.3 -1 reviewed p.V497I 1.000 209 0% 207 13.5% 6 33.3% possibly_damaging(0.643) tolerated(0.23) neutral(0.267) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PROC 5624 genome.wustl.edu 37 2 128186211 128186211 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_000312.3 +1 reviewed p.V359I 0.000 37 0% 40 30% 21 33.3% benign(0.002) tolerated(1) - HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys POTEF 728378 genome.wustl.edu 37 2 130832835 130832835 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001099771.2 -1 validated p.R737H 1.000 210 0.5% 195 21.5% 1 100% benign(0) deleterious(0) neutral(0.445) HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067 NCKAP5 344148 genome.wustl.edu 37 2 133540096 133540096 + Missense_Mutation SNP T T C novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_207363.2 -1 validated p.R1430G 0.034 93 0% 105 31.4% 0 - benign(0.09) deleterious(0) neutral(0.451) NULL ZRANB3 84083 genome.wustl.edu 37 2 135988147 135988147 + Silent SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_032143.2 -1 provisional p.C630 1.000 309 0% 320 10% 3 66.6% - - - HMMPfam_zf-RanBP,HMMSmart_SM00547,PatternScan_ZF_RANBP2_1,superfamily_NZF domain TNFAIP6 7130 genome.wustl.edu 37 2 152236046 152236049 + Frame_Shift_Del DEL AAAA AAAA - rs71403164 byCluster TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_007115.2 +1 reviewed p.*278fs 0.961:0.953 - - - - - - - - - NULL NEB 4703 genome.wustl.edu 37 2 152544187 152544187 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_004543.4 -1 reviewed p.A826T 0.981 475 0% 465 12.7% 0 - probably_damaging(0.996) tolerated(0.08) deleterious(0.762) HMMPfam_Nebulin,HMMSmart_SM00227 SCN7A 6332 genome.wustl.edu 37 2 167322299 167322299 + Missense_Mutation SNP T T C novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_002976.2 -1 validated p.Y288C 0.004 282 0% 259 28.2% 0 - benign(0.411) tolerated(0.12) neutral(0.394) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels XIRP2 129446 genome.wustl.edu 37 2 168100553 168100553 + Missense_Mutation SNP T T A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_152381.4 +1 validated p.I884N 0.999 85 0% 58 24.1% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Xin B3GALT1 8708 genome.wustl.edu 37 2 168726345 168726345 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_020981.2 +1 reviewed p.V266I 1.000 133 0% 114 14.9% 0 - probably_damaging(0.984) tolerated(0.09) deleterious(0.727) HMMPfam_Galactosyl_T MYO3B 140469 genome.wustl.edu 37 2 171358358 171358358 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_138995.3 +1 validated p.A1118V 1.000 264 0% 225 10.7% 1 0% benign(0.004) tolerated(0.38) neutral(0.018) NULL HOXD3 3232 genome.wustl.edu 37 2 177036865 177036866 + Frame_Shift_Ins INS - - A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_006898.4 +1 reviewed p.D388fs 1.000:1.000 - - - - - - - - - NULL TTN 7273 genome.wustl.edu 37 2 179410152 179410152 + Silent SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_133378.4 -1 reviewed p.A29327V 0.004 192 0% 210 15.7% 0 - - - - NULL ITGA4 3676 genome.wustl.edu 37 2 182363436 182363436 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_000885.4 +1 reviewed p.V543M 0.277 267 0% 324 11.1% 1 0% benign(0.004) tolerated(0.11) neutral(0.272) HMMPfam_Integrin_alpha2,superfamily_Integrin domains CCDC150 284992 genome.wustl.edu 37 2 197596875 197596875 + Missense_Mutation SNP A A G novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001080539.1 +1 provisional p.K1063R 1.000 206 0% 216 27.3% 2 50% benign(0.007) tolerated(0.16) neutral(0.059) NULL NDUFB3 4709 genome.wustl.edu 37 2 201950287 201950287 + Silent SNP A A G novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_002491.2 +1 validated p.V82 0.403 505 0% 537 30.5% 125 45.6% - - - HMMPfam_NDUF_B12 CASP8 841 genome.wustl.edu 37 2 202149906 202149906 + Silent SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b ENST00000444430 +1 known p.E170K 0.000 122 0% 109 11% 33 18.1% - - - HMMPfam_Peptidase_C14,HMMSmart_SM00115,superfamily_Caspase-like UNC80 285175 genome.wustl.edu 37 2 210685260 210685260 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_032504.1 +1 validated p.G730R 1.000 264 0% 248 20.2% 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL ATIC 471 genome.wustl.edu 37 2 216200802 216200802 + Silent SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b ENST00000426233 +1 known p.D20N 1.000 220 0% 215 14% 48 10.4% - - - HMMPfam_AICARFT_IMPCHas,HMMSmart_SM00798,superfamily_AICAR transformylase domain of bifunctional purine biosynthesis enzyme ATIC PAX3 5077 genome.wustl.edu 37 2 223161771 223161771 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_181459.2 -1 reviewed p.V83I 1.000 48 0% 55 20% 0 - possibly_damaging(0.761) deleterious(0) deleterious(0.726) HMMPfam_PAX,HMMSmart_SM00351,PatternScan_PAIRED_1,superfamily_Homeodomain-like DOCK10 55619 genome.wustl.edu 37 2 225635040 225635040 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_014689.2 -1 validated p.A2111V 1.000 264 0% 252 11.5% 7 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ded_cyto COL4A3 1285 genome.wustl.edu 37 2 228173956 228173956 + Silent SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_000091.3 +1 reviewed p.A1559 0.023 195 0% 205 15.6% 0 - - - - HMMPfam_C4,HMMSmart_SM00111,superfamily_C-type lectin-like MFF 56947 genome.wustl.edu 37 2 228207512 228207512 + Silent SNP A A T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b ENST00000436791 +1 known p.T153S 1.000 159 0% 182 25.3% 9 0% - - - NULL GIGYF2 26058 genome.wustl.edu 37 2 233660917 233660918 + Frame_Shift_Del DEL AG AG - novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001103147.1 +1 reviewed p.Q563fs 1.000:1.000 - - - - - - - - - HMMPfam_GYF,HMMSmart_GYF,superfamily_GYF INPP5D 3635 genome.wustl.edu 37 2 234107008 234107008 + Silent SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b ENST00000359570 +1 known p.R987 0.177 49 0% 38 34.2% 7 28.5% - - - NULL COL6A3 1293 genome.wustl.edu 37 2 238303525 238303525 + Silent SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_004369.3 -1 reviewed p.A138 0.020 173 0% 153 11.8% 1 0% - - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like LRRFIP1 9208 genome.wustl.edu 37 2 238672228 238672228 + Silent SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001137552.1 +1 validated p.N624 0.000 428 0% 432 12.7% 49 30.6% - - - NULL ITPR1 3708 genome.wustl.edu 37 3 4808357 4808357 + Silent SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001099952.2 +1 reviewed p.D1848 0.988 206 0% 211 13.3% 7 14.2% - - - NULL SLC6A6 6533 genome.wustl.edu 37 3 14520022 14520022 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001134367.1 +1 validated p.V466I 1.000 904 0% 898 11.6% 29 34.4% possibly_damaging(0.582) tolerated(0.77) neutral(0.201) HMMPfam_SNF TGFBR2 7048 genome.wustl.edu 37 3 30713718 30713718 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001024847.2 +1 reviewed p.R373H 0.995 110 0% 89 29.2% 58 13.7% possibly_damaging(0.66) tolerated(0.14) deleterious(0.483) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PTPN23 25930 genome.wustl.edu 37 3 47448222 47448222 + Silent SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_015466.2 +1 validated p.Q263 1.000 95 0% 121 14.9% 13 7.6% - - - HMMPfam_BRO1 SMARCC1 6599 genome.wustl.edu 37 3 47651716 47651716 + Silent SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_003074.3 -1 validated p.Q961 1.000 562 0% 565 12% 135 20.7% - - - NULL TLR9 54106 genome.wustl.edu 37 3 52256366 52256366 + Nonsense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_017442.2 -1 reviewed p.Q656* 0.002 39 0% 49 16.3% 0 - - - - superfamily_L domain-like FAM3D 131177 genome.wustl.edu 37 3 58620097 58620098 + Splice_Site INS - - AG novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_138805.2 -1 validated e9-2 1.000:0.865 - - - - - - - - - - CNTN3 5067 genome.wustl.edu 37 3 74344350 74344350 + Silent SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_020872.1 -1 validated p.S813 0.998 216 0% 215 28.4% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III GBE1 2632 genome.wustl.edu 37 3 81754676 81754676 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b ENST00000264326 -1 known p.V78I 0.040 212 0% 272 12.9% 13 7.6% benign(0) tolerated(0.24) neutral(0.037) HMMPfam_CBM_48,superfamily_E set domains VGLL3 389136 genome.wustl.edu 37 3 87027908 87027908 + Silent SNP G G T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_016206.2 -1 validated p.V57 1.000 136 0% 126 31.7% 0 - - - - NULL GCET2 257144 genome.wustl.edu 37 3 111842310 111842310 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_152785.3 -1 reviewed p.H177Y 0.000 244 0% 197 13.7% 2 0% benign(0.002) tolerated(0.7) neutral(0.002) NULL BOC 91653 genome.wustl.edu 37 3 113004237 113004237 + Silent SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_033254.2 +1 validated p.P994 0.005 56 0% 61 14.8% 27 11.1% - - - NULL SPICE1 152185 genome.wustl.edu 37 3 113175984 113175984 + Silent SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_144718.3 -1 validated p.D552 0.571 151 0% 129 26.4% 6 66.6% - - - NULL ILDR1 286676 genome.wustl.edu 37 3 121720592 121720592 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_175924.2 -1 provisional p.H167Y 1.000 197 0% 220 23.2% 22 22.7% benign(0.039) deleterious(0.01) neutral(0.408) HMMPfam_LSR CPNE4 131034 genome.wustl.edu 37 3 131418796 131418796 + Missense_Mutation SNP G G T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_130808.1 -1 reviewed p.S130Y 1.000 163 0% 171 29.2% 0 - benign(0.133) deleterious(0.04) neutral(0.360) HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) KY 339855 genome.wustl.edu 37 3 134339693 134339693 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_178554.4 -1 validated p.A164T 0.719 155 0% 135 32.6% 0 - benign(0.001) tolerated(0.59) neutral(0.004) NULL DBR1 51163 genome.wustl.edu 37 3 137886125 137886125 + Missense_Mutation SNP A A G novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_016216.2 -1 validated p.F171S 1.000 78 0% 61 37.7% 4 50% possibly_damaging(0.9) deleterious(0) deleterious(0.801) HMMPfam_Metallophos,superfamily_Metallo-dependent phosphatases ACPL2 92370 genome.wustl.edu 37 3 141011336 141011336 + Silent SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001037172.1 +1 validated p.S244 0.830 116 0% 120 11.7% 9 0% - - - HMMPfam_Acid_phosphat_A,superfamily_Phosphoglycerate mutase-like GYG1 2992 genome.wustl.edu 37 3 148714147 148714147 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_004130.3 +1 validated p.D68N 1.000 367 0% 323 29.4% 31 29% benign(0.005) tolerated(0.29) neutral(0.029) HMMPfam_Glyco_transf_8,superfamily_Nucleotide-diphospho-sugar transferases SHOX2 6474 genome.wustl.edu 37 3 157823754 157823754 + Missense_Mutation SNP C C A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_006884.3 -1 reviewed p.K20N 1.000 20 0% 21 28.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SLITRK3 22865 genome.wustl.edu 37 3 164906156 164906156 + Silent SNP T T G novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_014926.2 -1 validated p.A821 0.001 192 0% 185 27% 0 - - - - NULL NCEH1 57552 genome.wustl.edu 37 3 172351527 172351527 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_020792.4 -1 validated p.A354V 0.414 173 0% 182 15.4% 19 15.7% benign(0) tolerated(1) - HMMPfam_Abhydrolase_3,superfamily_alpha/beta-Hydrolases PIK3CA 5290 genome.wustl.edu 37 3 178916876 178916876 + Missense_Mutation SNP G G A rs121913287 TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_006218.2 +1 reviewed p.R88Q 1.000 176 0% 156 25.6% 1 0% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_PI3K_p85B,HMMSmart_PI3K_p85B ECE2 9718 genome.wustl.edu 37 3 184009181 184009181 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_014693.3 +1 validated p.A810V 0.993 116 0% 117 17.9% 0 - possibly_damaging(0.666) deleterious(0) deleterious(0.680) "HMMPfam_Peptidase_M13,superfamily_Metalloproteases (""zincins"") catalytic domain" MAP3K13 9175 genome.wustl.edu 37 3 185169166 185169169 + Frame_Shift_Del DEL ACTT ACTT - novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 ACTT ACTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_004721.3 +1 reviewed p.Y422fs 1.000:1.000:0.900:1.000 - - - - - - - - - superfamily_Protein kinase-like (PK-like) HRG 3273 genome.wustl.edu 37 3 186390614 186390615 + Frame_Shift_Del DEL TG TG - novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_000412.2 +1 reviewed p.V200fs 0.500:0.525 - - - - - - - - - HMMSmart_SM00043,superfamily_Cystatin/monellin LPP 4026 genome.wustl.edu 37 3 188426172 188426172 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_005578.3 +1 reviewed p.E411K 1.000 220 0% 197 26.9% 7 14.2% possibly_damaging(0.767) deleterious(0.03) deleterious(0.649) NULL FAM193A 8603 genome.wustl.edu 37 4 2696715 2696715 + Silent SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_003704.3 +1 validated p.Y754 0.137 81 0% 78 16.7% 27 25.9% - - - NULL SH3TC1 54436 genome.wustl.edu 37 4 8237273 8237275 + In_Frame_Del DEL CTT CTT - novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_018986.3 +1 validated p.F1133in_frame_del 1.000:1.000:1.000 - - - - - - - - - superfamily_TPR-like LOC650293 650293 genome.wustl.edu 37 4 8951847 8951847 + Missense_Mutation SNP A A G novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001040071.1 +1 provisional p.Q124R 0.000 522 0% 476 14.7% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 PGM2 55276 genome.wustl.edu 37 4 37836241 37836241 + Missense_Mutation SNP G G C novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_018290.3 +1 validated p.G84A 1.000 142 0% 129 20.2% 14 42.8% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_PGM_PMM_I,superfamily_A-D-PHexomutase_a/b/a-I/II/III FRAS1 80144 genome.wustl.edu 37 4 79238600 79238600 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_025074.6 +1 reviewed p.R633H 0.952 264 0% 212 13.7% 1 0% benign(0.02) tolerated(0.22) neutral(0.043) HMMSmart_SM00261,superfamily_Growth factor receptor domain FRAS1 80144 genome.wustl.edu 37 4 79420941 79420941 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_025074.6 +1 reviewed p.A3060V 0.982 245 0% 254 19.3% 3 0% benign(0.029) tolerated(0.46) neutral(0.013) HMMPfam_Calx-beta,HMMSmart_SM00237 PHF17 79960 genome.wustl.edu 37 4 129783097 129783097 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_199320.2 +1 validated p.R407Q 1.000 155 0% 117 13.7% 5 0% benign(0) tolerated(0.84) neutral(0.001) NULL OTUD4 54726 genome.wustl.edu 37 4 146059564 146059564 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001102653.1 -1 reviewed p.P723L 0.874 227 0.4% 190 12.6% 25 28% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL TLR2 7097 genome.wustl.edu 37 4 154626316 154626316 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_003264.3 +1 reviewed p.R753W 1.000 162 0% 161 11.2% 6 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TIR,HMMSmart_TIR,superfamily_TIR PLRG1 5356 genome.wustl.edu 37 4 155462021 155462021 + Silent SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b ENST00000506627 -1 known p.A23V 0.597 242 0% 220 15.5% 51 11.7% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 ODZ3 55714 genome.wustl.edu 37 4 183245382 183245382 + Missense_Mutation SNP A A G novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001080477.1 +1 provisional p.E70G 1.000 167 0% 185 18.9% 0 - probably_damaging(0.99) deleterious(0.01) deleterious(0.847) HMMPfam_Ten_N ODZ3 55714 genome.wustl.edu 37 4 183710518 183710518 + Silent SNP A A G novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001080477.1 +1 provisional p.T1859 0.000 230 0% 249 30.1% 0 - - - - HMMPfam_RHS_repeat SORBS2 8470 genome.wustl.edu 37 4 186545010 186545010 + Missense_Mutation SNP T T C novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_021069.4 -1 reviewed p.K521E 0.999 148 0% 144 18.1% 2 0% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL CEP72 55722 genome.wustl.edu 37 5 637731 637731 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_018140.3 +1 reviewed p.R335Q 0.000 114 0% 101 36.6% 2 0% possibly_damaging(0.949) deleterious(0) deleterious(0.838) NULL BRD9 65980 genome.wustl.edu 37 5 879940 879940 + Silent SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_023924.4 -1 validated p.T273 0.003 454 0% 405 9.6% 18 11.1% - - - NULL DNAH5 1767 genome.wustl.edu 37 5 13867994 13867994 + Silent SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001369.2 -1 reviewed p.G1314 0.094 237 0.4% 226 25.7% 1 100% - - - superfamily_Spectrin PTGER4 5734 genome.wustl.edu 37 5 40692070 40692070 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_000958.2 +1 reviewed p.G353R 0.987 73 0% 74 16.2% 1 0% benign(0.047) tolerated(0.47) neutral(0.014) superfamily_SSF81321 PDE4D 5144 genome.wustl.edu 37 5 58511763 58511763 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001104631.1 -1 validated p.R163W 1.000 139 0% 124 21% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL UTP15 84135 genome.wustl.edu 37 5 72874921 72874921 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_032175.2 +1 validated p.A409V 1.000 366 0% 394 13.7% 2 0% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_U3_snoRNA_C ANKRD31 256006 genome.wustl.edu 37 5 74450170 74450170 + Missense_Mutation SNP C C G novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b ENST00000274361 -1 known p.V570L 1.000 216 0% 150 35.3% 0 - probably_damaging(0.988) deleterious(0.04) deleterious(0.786) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK FEM1C 56929 genome.wustl.edu 37 5 114860915 114860915 + Missense_Mutation SNP G G T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_020177.2 -1 validated p.P315H 1.000 198 0% 215 10.7% 13 7.6% probably_damaging(0.998) tolerated(0.07) deleterious(0.793) superfamily_ANK CATSPER3 347732 genome.wustl.edu 37 5 134343745 134343745 + Silent SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_178019.2 +1 validated p.C197 0.961 291 0% 265 12.8% 0 - - - - HMMPfam_Ion_trans,superfamily_SSF81324 SLC23A1 9963 genome.wustl.edu 37 5 138715929 138715929 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b ENST00000448329 -1 known p.P168S 0.996 143 0% 132 18.9% 1 0% - - - NULL ENSG00000228672 0 genome.wustl.edu 37 5 138728663 138728663 + Missense_Mutation SNP T T C novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b ENST00000434752 -1 known p.D142G 0.001 10 0.000 9 0.444 2 0% possibly_damaging(0.832) tolerated(0.47) neutral(0.328) NULL TMEM173 340061 genome.wustl.edu 37 5 138855863 138855863 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_198282.2 -1 validated p.R375C 0.797 182 0% 146 24% 164 44.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PCDHA1 56147 genome.wustl.edu 37 5 140168136 140168136 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_018900.2 +1 reviewed p.R754K 0.964 104 0% 119 21% 0 - benign(0.041) tolerated(0.15) neutral(0.243) NULL PCDHGB7 56099 genome.wustl.edu 37 5 140798879 140798879 + Missense_Mutation SNP G G A rs35892780 byCluster TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_018927.2 +1 reviewed p.G485S 0.990 42 0% 49 44.9% 17 76.4% probably_damaging(1) tolerated(0.15) deleterious(0.741) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGC5 56097 genome.wustl.edu 37 5 140871422 140871422 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_032407.1 +1 reviewed p.R872H 0.001 27 0% 26 26.9% 0 - - - - NULL FCHSD1 89848 genome.wustl.edu 37 5 141027590 141027590 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_033449.1 -1 provisional p.A217V 1.000 191 0% 183 31.1% 11 54.5% benign(0.418) deleterious(0.01) deleterious(0.541) NULL NDST1 3340 genome.wustl.edu 37 5 149919738 149919738 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001543.4 +1 validated p.T554M 1.000 127 0% 103 16.5% 20 35% probably_damaging(1) deleterious(0) deleterious(0.945) NULL RNF44 22838 genome.wustl.edu 37 5 175958573 175958573 + Missense_Mutation SNP A A G novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_014901.4 -1 reviewed p.F119S 1.000 75 0% 70 31.4% 45 33.3% benign(0.268) deleterious(0) deleterious(0.473) NULL DSP 1832 genome.wustl.edu 37 6 7580345 7580345 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_004415.2 +1 reviewed p.R1308W 0.000 83 0% 76 26.3% 58 10.3% probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL HIVEP1 3096 genome.wustl.edu 37 6 12123362 12123362 + Missense_Mutation SNP A A G novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_002114.2 +1 validated p.M1112V 0.000 131 0% 122 10.7% 3 33.3% benign(0) tolerated(0.42) neutral(0.014) NULL SOX4 6659 genome.wustl.edu 37 6 21595042 21595042 + Silent SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_003107.2 +1 reviewed p.L93 1.000 46 0% 30 16.7% 231 20.3% - - - HMMPfam_HMG_box,HMMSmart_HMG,superfamily_HMG-box GMNN 51053 genome.wustl.edu 37 6 24785955 24785955 + Silent SNP G G T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_015895.3 +1 validated p.V186 0.012 175 0% 182 12.1% 31 38.7% - - - HMMPfam_Geminin SCAND3 114821 genome.wustl.edu 37 6 28543817 28543817 + Missense_Mutation SNP A A G novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_052923.1 -1 provisional p.M222T 1.000 290 0% 296 15.5% 1 0% possibly_damaging(0.616) deleterious(0.01) deleterious(0.620) NULL HLA-DRB5 3127 genome.wustl.edu 37 6 32485856 32485856 + Splice_Site SNP T T C novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_002125.3 -1 reviewed e5-2 0.280 162 0% 139 10.8% 1 0% - - - - UHRF1BP1 54887 genome.wustl.edu 37 6 34825153 34825153 + Silent SNP C C A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_017754.3 +1 validated p.S493 1.000 277 0% 315 30.2% 3 33.3% - - - NULL CLPSL2 389383 genome.wustl.edu 37 6 35745300 35745300 + Missense_Mutation SNP A A G novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_207409.2 +1 validated p.D50G 0.000 46 0% 43 23.3% 0 - possibly_damaging(0.86) tolerated(0.05) deleterious(0.678) NULL CUL9 23113 genome.wustl.edu 37 6 43153210 43153210 + Silent SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_015089.2 +1 validated p.V204 1.000 177 0% 152 11.2% 3 33.3% - - - NULL DST 667 genome.wustl.edu 37 6 56600082 56600082 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b ENST00000370769 -1 known p.R33W 1.000 218 0% 206 17% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Calponin-homology domain CH-domain FKBP1C 642489 genome.wustl.edu 37 6 63921726 63921726 + Missense_Mutation SNP C C A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b ENST00000370659 +1 known p.P89T 1.000 195 0% 203 10.8% 264 0% possibly_damaging(0.951) deleterious(0) deleterious(0.839) HMMPfam_FKBP_C,superfamily_SSF54534 HTR1E 3354 genome.wustl.edu 37 6 87725675 87725675 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_000865.2 +1 validated p.A208V 1.000 265 0% 277 18.8% 0 - probably_damaging(1) tolerated(0.09) deleterious(0.796) HMMPfam_7tm_1,superfamily_SSF81321 NDUFAF4 29078 genome.wustl.edu 37 6 97345675 97345675 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_014165.3 -1 reviewed p.M1I 1.000 266 0% 224 30.4% 21 23.8% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_UPF0240 CDK19 23097 genome.wustl.edu 37 6 110935837 110935837 + Silent SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_015076.3 -1 reviewed p.S470 0.999 265 0% 258 12% 7 14.2% - - - NULL ROS1 6098 genome.wustl.edu 37 6 117662779 117662779 + Silent SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_002944.2 -1 reviewed p.Q1562 0.000 313 0.3% 344 30.5% 1 100% - - - HMMSmart_FN3,superfamily_FN_III-like STXBP5 134957 genome.wustl.edu 37 6 147525815 147525815 + Silent SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001127715.1 +1 reviewed p.C49 1.000 41 0% 33 27.3% 1 0% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like C6orf97 80129 genome.wustl.edu 37 6 151939086 151939086 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_025059.3 +1 validated p.A651V 0.978 291 0% 244 25% 16 6.2% benign(0) tolerated(0.45) neutral(0.012) NULL IGF2R 3482 genome.wustl.edu 37 6 160500626 160500626 + Silent SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_000876.2 +1 reviewed p.S1831 0.036 163 0% 155 25.8% 38 21% - - - HMMPfam_CIMR,superfamily_Mannose 6-phosphate receptor domain LPA 4018 genome.wustl.edu 37 6 160977176 160977176 + Silent SNP A A G novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_005577.2 -1 reviewed p.H1618 0.996 627 0% 621 15.1% 0 - - - - HMMPfam_Kringle,HMMSmart_SM00130,superfamily_Kringle-like MAP3K4 4216 genome.wustl.edu 37 6 161470851 161470851 + Missense_Mutation SNP G G T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_005922.2 +1 reviewed p.G516V 0.992 109 0% 110 16.4% 8 37.5% possibly_damaging(0.882) deleterious(0.02) deleterious(0.728) NULL MLLT4 4301 genome.wustl.edu 37 6 168347417 168347417 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001040001.1 +1 validated p.R1122Q 1.000 222 0% 201 12.4% 29 20.6% probably_damaging(1) tolerated(0.28) deleterious(0.531) superfamily_PDZ SDK1 221935 genome.wustl.edu 37 7 4089055 4089055 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_152744.3 +1 validated p.P893L 0.991 99 0% 101 11.9% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III SDK1 221935 genome.wustl.edu 37 7 4272966 4272966 + Silent SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_152744.3 +1 validated p.R1969 0.834 95 0% 98 15.3% 4 0% - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III FOXK1 221937 genome.wustl.edu 37 7 4800735 4800735 + Silent SNP C C T rs182098207 by1000genomes TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001037165.1 +1 validated p.P579 0.006 26 0% 24 29.2% 13 7.6% - - - NULL FERD3L 222894 genome.wustl.edu 37 7 19184597 19184597 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_152898.2 -1 validated p.T130M 1.000 160 0% 168 28% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HLH,HMMSmart_HLH,superfamily_HLH_basic DNAH11 8701 genome.wustl.edu 37 7 21678630 21678630 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_003777.3 +1 reviewed p.V1636I 1.000 402 0.2% 441 12.9% 8 0% benign(0) tolerated(0.35) neutral(0.021) HMMPfam_DHC_N2 ENSG00000251528 0 genome.wustl.edu 37 7 34980269 34980269 + RNA SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b ENST00000508348 +1 novel NULL 0.002 151 0% 147 11.6% 1 0% - - - - ADCY1 107 genome.wustl.edu 37 7 45632457 45632457 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_021116.2 +1 reviewed p.R247W 1.000 365 0% 328 15.9% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL PHKG1 5260 genome.wustl.edu 37 7 56149625 56149625 + Silent SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_006213.3 -1 reviewed p.S251 0.027 46 0% 35 22.9% 1 0% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ZNF716 441234 genome.wustl.edu 37 7 57528628 57528628 + Missense_Mutation SNP A A G novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b XM_002342727.1 +1 model p.N154S 0.132 427 0% 475 33.9% 0 - benign(0.001) tolerated(1) - superfamily_C2H2 and C2HC zinc fingers SEMA3C 10512 genome.wustl.edu 37 7 80427521 80427522 + Frame_Shift_Del DEL AC AC - novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 AC AC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_006379.2 -1 validated p.Y340fs 1.000:0.993 - - - - - - - - - HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema DBF4 10926 genome.wustl.edu 37 7 87530094 87530094 + Silent SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_006716.3 +1 validated p.G275 0.814 331 0% 276 23.6% 0 - - - - NULL ENSG00000240720 0 genome.wustl.edu 37 7 91792840 91792840 + Silent SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b ENST00000430130 -1 known p.H559 0.001 55 0% 50 16% 0 - - - - superfamily_L domain-like FOXP2 93986 genome.wustl.edu 37 7 114271582 114271582 + Splice_Site SNP G G C novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_148898.2 +1 reviewed e6-1 0.135 36 0% 41 24.4% 0 - - - - - SPAM1 6677 genome.wustl.edu 37 7 123594428 123594428 + Silent SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_003117.4 +1 reviewed p.Q268 0.000 196 0% 175 14.9% 0 - - - - HMMPfam_Glyco_hydro_56,superfamily_Glyco_hydro_cat FAM71F2 346653 genome.wustl.edu 37 7 128320095 128320095 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001012454.3 +1 validated p.S209N 0.718 109 0% 78 11.5% 0 - possibly_damaging(0.915) tolerated(0.34) neutral(0.390) NULL FLNC 2318 genome.wustl.edu 37 7 128484133 128484133 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001458.4 +1 reviewed p.R1002Q 1.000 66 0% 71 19.7% 13 0% benign(0.092) tolerated(0.28) neutral(0.038) HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin ATP6V0A4 50617 genome.wustl.edu 37 7 138417772 138417772 + Silent SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_020632.2 -1 reviewed p.L586 0.997 288 0% 339 10.3% 3 33.3% - - - HMMPfam_V_ATPase_I CUL1 8454 genome.wustl.edu 37 7 148483687 148483687 + Missense_Mutation SNP A A G novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_003592.2 +1 validated p.Q448R 1.000 244 0% 264 14% 35 25.7% benign(0.278) tolerated(0.13) neutral(0.282) HMMPfam_Cullin,HMMSmart_SM00182,superfamily_Cullin homology domain SSPO 23145 genome.wustl.edu 37 7 149492400 149492400 + Missense_Mutation SNP G G T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b ENST00000378016 +1 known p.A2097S 0.000 32 0% 26 30.8% 0 - - - - HMMSmart_SM00231,superfamily_Galactose-binding domain-like ZNF862 643641 genome.wustl.edu 37 7 149559002 149559002 + Missense_Mutation SNP A A G novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001099220.1 +1 provisional p.Q918R 0.997 69 0% 60 11.7% 9 11.1% benign(0.001) tolerated(0.32) neutral(0.024) NULL RP1L1 94137 genome.wustl.edu 37 8 10466259 10466259 + Silent SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_178857.5 -1 validated p.A1783 0.000 378 0% 499 26.1% 1 0% - - - HMMPfam_S-antigen BMP1 649 genome.wustl.edu 37 8 22037964 22037964 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_006129.4 +1 reviewed p.V349M 0.037 144 0% 165 10.9% 29 13.7% possibly_damaging(0.823) tolerated(0.17) neutral(0.370) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain PIWIL2 55124 genome.wustl.edu 37 8 22136972 22136972 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001135721.1 +1 validated p.P25S 1.000 160 0% 171 21.6% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL PIWIL2 55124 genome.wustl.edu 37 8 22141741 22141742 + Frame_Shift_Del DEL AC AC - novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 AC AC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001135721.1 +1 validated p.Q234fs 1.000:1.000 - - - - - - - - - superfamily_PAZ domain MAK16 84549 genome.wustl.edu 37 8 33347842 33347842 + Missense_Mutation SNP G G T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_032509.3 +1 validated p.R144S 0.991 596 0% 743 23% 6 16.6% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_Mak16 ZMAT4 79698 genome.wustl.edu 37 8 40554877 40554877 + Missense_Mutation SNP A A T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_024645.2 -1 validated p.L79H 1.000 244 0% 326 10.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00451,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355 CRISPLD1 83690 genome.wustl.edu 37 8 75929600 75929600 + Missense_Mutation SNP A A G novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_031461.4 +1 validated p.N348D 1.000 290 0% 362 11.6% 21 0% benign(0.013) tolerated(0.34) neutral(0.024) HMMPfam_LCCL,HMMSmart_SM00603,superfamily_LCCL domain CPNE3 8895 genome.wustl.edu 37 8 87568446 87568446 + Silent SNP A A G novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_003909.3 +1 reviewed p.G457 0.975 351 0% 397 20.7% 50 32% - - - HMMSmart_VWA,HMMPfam_Copine,superfamily_SSF53300 DCAF4L2 138009 genome.wustl.edu 37 8 88885797 88885797 + Silent SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_152418.3 -1 validated p.L135 0.858 179 0% 239 11.3% 0 - - - - superfamily_WD40_like INTS8 55656 genome.wustl.edu 37 8 95869029 95869030 + Frame_Shift_Del DEL TT TT - novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 TT TT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_017864.2 +1 provisional p.F593fs 0.994:1.000 - - - - - - - - - NULL OSR2 116039 genome.wustl.edu 37 8 99961313 99961313 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001142462.1 +1 validated p.A45T 1.000 50 0% 58 15.5% 58 3.4% possibly_damaging(0.792) deleterious(0) deleterious(0.742) NULL TNFRSF11B 4982 genome.wustl.edu 37 8 119945263 119945263 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_002546.3 -1 reviewed p.R103C 1.000 174 0% 175 11.4% 6 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_TNFR_c6,HMMSmart_SM00208,PatternScan_TNFR_NGFR_1,superfamily_TNF receptor-like FAM83A 84985 genome.wustl.edu 37 8 124221769 124221769 + Silent SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b ENST00000360681 +1 known p.D293 0.000 153 0% 176 15.9% 110 20% - - - NULL TG 7038 genome.wustl.edu 37 8 134125686 134125686 + Silent SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_003235.4 +1 reviewed p.G2531 0.938 176 0% 199 11.6% 0 - - - - HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases PLEC 5339 genome.wustl.edu 37 8 144996775 144996776 + Frame_Shift_Del DEL CT CT - novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_201380.2 -1 reviewed p.S2578fs 1.000:1.000 - - - - - - - - - NULL SLC39A4 55630 genome.wustl.edu 37 8 145638016 145638016 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_130849.2 -1 reviewed p.P617L 1.000 119 0% 127 11% 210 15.2% probably_damaging(0.999) tolerated(0.07) deleterious(0.809) HMMPfam_Zip KANK1 23189 genome.wustl.edu 37 9 738367 738367 + Missense_Mutation SNP A A G novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_015158.2 +1 reviewed p.Y1139C 1.000 228 0% 184 31% 40 45% benign(0.42) deleterious(0.04) deleterious(0.485) superfamily_ANK RANBP6 26953 genome.wustl.edu 37 9 6012633 6012633 + Missense_Mutation SNP G G T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_012416.2 -1 validated p.P992H 1.000 347 0% 300 14% 7 0% benign(0.111) tolerated(0.21) neutral(0.052) NULL IFNW1 3467 genome.wustl.edu 37 9 21141496 21141496 + Missense_Mutation SNP T T C novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_002177.1 -1 provisional p.D25G 0.971 68 0% 50 16% 0 - benign(0.012) deleterious(0.03) neutral(0.365) HMMPfam_Interferon,superfamily_4_helix_cytokine ACO1 48 genome.wustl.edu 37 9 32431734 32431734 + Nonsense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_002197.2 +1 reviewed p.Q582* 0.960 188 0% 195 11.3% 13 0% - - - superfamily_Aconitase iron-sulfur domain RPP25L 138716 genome.wustl.edu 37 9 34611203 34611203 + Nonsense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_148178.1 -1 validated p.R31* 1.000 142 0% 107 23.4% 63 22.2% - - - HMMPfam_Alba,superfamily_SSF82704 NPR2 4882 genome.wustl.edu 37 9 35808596 35808596 + Missense_Mutation SNP C C A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_003995.3 +1 reviewed p.L935I 1.000 151 0% 157 15.9% 9 11.1% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_Guanylate_cyc,HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain TJP2 9414 genome.wustl.edu 37 9 71869243 71869243 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_004817.3 +1 reviewed p.R1176C 0.967 107 0% 116 17.2% 112 23.2% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL SHC3 53358 genome.wustl.edu 37 9 91690037 91690037 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_016848.4 -1 validated p.P239L 0.944 301 0% 293 28.3% 2 100% benign(0.108) tolerated(0.44) neutral(0.021) HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like FSD1L 83856 genome.wustl.edu 37 9 108230528 108230528 + Missense_Mutation SNP T T C novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001145313.1 +1 validated p.S88P 1.000 215 0% 164 25.6% 1 100% probably_damaging(0.999) tolerated(0.07) deleterious(0.809) HMMSmart_SM00502 ACTL7B 10880 genome.wustl.edu 37 9 111617698 111617699 + Frame_Shift_Ins INS - - A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_006686.3 -1 reviewed p.G172fs 0.838:1.000 - - - - - - - - - HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain ACTL7A 10881 genome.wustl.edu 37 9 111625559 111625559 + Silent SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_006687.2 +1 reviewed p.S319 0.005 50 0% 60 15% 0 - - - - HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain PAPPA 5069 genome.wustl.edu 37 9 118950237 118950237 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_002581.3 +1 reviewed p.R407H 0.942 41 0% 35 25.7% 2 0% benign(0.001) tolerated(0.67) neutral(0.003) HMMPfam_Notch,HMMSmart_NL,superfamily_SSF55486 ENSG00000249728 0 genome.wustl.edu 37 9 133346366 133346366 + RNA SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b ENST00000503205 -1 novel NULL 0.000 123 0% 126 14.3% 0 - - - - - TSC1 7248 genome.wustl.edu 37 9 135771937 135771937 + Silent SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_000368.4 -1 reviewed p.S1060 0.984 77 0% 73 13.7% 2 0% unknown(0) - - NULL OLFM1 10439 genome.wustl.edu 37 9 138011764 138011764 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_014279.4 +1 validated p.R382C 1.000 35 0% 25 32% 6 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_OLF,HMMSmart_OLF CAMSAP1 157922 genome.wustl.edu 37 9 138712840 138712840 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_015447.3 -1 validated p.V1223M 0.000 62 0% 51 31.4% 17 41.1% benign(0.003) tolerated(0.14) neutral(0.249) NULL WDR37 22884 genome.wustl.edu 37 10 1123944 1123944 + Splice_Site SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_014023.3 +1 reviewed e2+1 1.000 198 0% 181 26.5% 0 - - - - - SEC61A2 55176 genome.wustl.edu 37 10 12209885 12209885 + RNA SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NR_024576.1 +1 reviewed NULL 0.000 96 0% 82 14.6% 3 0% - - - - MCM10 55388 genome.wustl.edu 37 10 13213065 13213065 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_182751.2 +1 validated p.D51N 0.998 146 0% 174 17.2% 1 0% possibly_damaging(0.717) tolerated(0.19) neutral(0.309) NULL FAM21A 387680 genome.wustl.edu 37 10 51829472 51829472 + Splice_Site SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001005751.1 +1 validated e3+1 1.000 441 0% 457 11.2% 0 - - - - - PCDH15 65217 genome.wustl.edu 37 10 55587307 55587307 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001142763.1 -1 reviewed p.R1410C 1.000 144 0% 150 11.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL AIFM2 84883 genome.wustl.edu 37 10 71880342 71880342 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_032797.4 -1 reviewed p.R143Q 0.472 328 0% 300 30% 17 41.1% benign(0.001) tolerated(0.61) neutral(0.004) HMMPfam_Pyr_redox_2,superfamily_FAD/NAD(P)-binding domain CDH23 64072 genome.wustl.edu 37 10 73464766 73464766 + Silent SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_022124.5 +1 reviewed p.S944 0.684 14 0% 18 33.3% 1 0% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PPIF 10105 genome.wustl.edu 37 10 81109426 81109426 + Missense_Mutation SNP T T C novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_005729.3 +1 reviewed p.F78L 1.000 237 0% 241 14.9% 75 20% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Pro_isomerase,superfamily_CSA_PPIase PTEN 5728 genome.wustl.edu 37 10 89712008 89712009 + Frame_Shift_Ins INS - - A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b ENST00000371953 +1 known p.T210fs 1.000:1.000 - - - - - - - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 PTEN 5728 genome.wustl.edu 37 10 89720670 89720670 + Nonsense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b ENST00000371953 +1 known p.W274* 1.000 150 0% 163 33.1% 13 23% - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 LIPM 340654 genome.wustl.edu 37 10 90562724 90562724 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001128215.1 +1 validated p.A24V 0.232 274 0% 276 25.7% 0 - benign(0) tolerated(0.29) neutral(0.029) NULL SEC31B 25956 genome.wustl.edu 37 10 102256985 102256985 + Missense_Mutation SNP T T A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_015490.3 -1 reviewed p.E681D 0.998 91 0% 94 12.8% 3 66.6% benign(0.01) tolerated(0.31) neutral(0.028) NULL PDZD8 118987 genome.wustl.edu 37 10 119043399 119043399 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_173791.3 -1 provisional p.R949C 1.000 243 0% 227 24.2% 27 37% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL FGFR2 2263 genome.wustl.edu 37 10 123325005 123325005 + Missense_Mutation SNP G G C novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_022970.3 -1 reviewed p.T108S 1.000 234 0% 244 14.3% 18 5.5% benign(0) tolerated(0.32) neutral(0.024) HMMSmart_IGc2,HMMPfam_ig,superfamily_SSF48726 DMBT1 1755 genome.wustl.edu 37 10 124352100 124352100 + Missense_Mutation SNP T T G novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_007329.2 +1 reviewed p.V830G 1.000 235 0% 192 13.5% 369 14.3% probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like MKI67 4288 genome.wustl.edu 37 10 129902979 129902979 + Silent SNP T T C novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_002417.4 -1 reviewed p.A2375 0.000 1082 0% 986 10.8% 7 57.1% - - - HMMPfam_K167R MUC5B 727897 genome.wustl.edu 37 11 1274056 1274056 + Silent SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_002458.1 +1 validated p.T5024 0.928 84 0% 80 13.8% 754 28.9% - - - NULL NUP98 4928 genome.wustl.edu 37 11 3765739 3765739 + Missense_Mutation SNP C C A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_016320.4 -1 reviewed p.A470S 1.000 50 0% 70 11.4% 8 0% probably_damaging(0.998) tolerated(0.16) deleterious(0.534) NULL OR52B6 340980 genome.wustl.edu 37 11 5602861 5602861 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001005162.2 +1 validated p.A252V 0.817 604 0% 584 13.4% 0 - probably_damaging(0.983) deleterious(0.01) deleterious(0.835) HMMPfam_7tm_1,superfamily_SSF81321 USP47 55031 genome.wustl.edu 37 11 11964496 11964496 + Silent SNP G G T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_017944.3 +1 validated p.T908 1.000 411 0% 414 12.1% 30 20% - - - NULL MRGPRX4 117196 genome.wustl.edu 37 11 18195145 18195145 + Silent SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_054032.3 +1 validated p.S114 0.001 284 0% 278 13.3% 0 - - - - HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like KCNA4 3739 genome.wustl.edu 37 11 30033155 30033155 + Silent SNP G G T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_002233.2 -1 reviewed p.P357 0.048 77 0% 83 15.7% 0 - - - - superfamily_Voltage-gated potassium channels MADD 8567 genome.wustl.edu 37 11 47330145 47330145 + Missense_Mutation SNP A A G novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_003682.3 +1 reviewed p.K1255E 0.998 119 0% 115 16.5% 20 20% possibly_damaging(0.579) tolerated(0.32) neutral(0.223) NULL VEGFB 7423 genome.wustl.edu 37 11 64003286 64003286 + Silent SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_003377.3 +1 provisional p.V35 1.000 128 0% 129 10.1% 76 9.2% - - - superfamily_Cystine-knot cytokines CDCA5 113130 genome.wustl.edu 37 11 64846731 64846731 + Missense_Mutation SNP T T C novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b ENST00000404147 -1 known p.R258G 0.000 129 0% 115 12.2% 1 0% unknown(0) - - NULL RBM14 10432 genome.wustl.edu 37 11 66393101 66393101 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_006328.3 +1 validated p.R585Q 1.000 69 0% 68 11.8% 50 20% unknown(0) tolerated(0.25) - NULL RBM4 5936 genome.wustl.edu 37 11 66407320 66407320 + Silent SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_002896.2 +1 validated p.T46 0.975 356 0.3% 351 10.8% 147 16.3% - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD ADRBK1 156 genome.wustl.edu 37 11 67050619 67050621 + In_Frame_Del DEL CTT CTT - novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001619.3 +1 reviewed p.F417in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase UNC93B1 81622 genome.wustl.edu 37 11 67764221 67764221 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b ENST00000227471 -1 known p.T313M 1.000 69 0% 66 16.7% 173 22.5% probably_damaging(1) tolerated(0.11) deleterious(0.772) NULL ARAP1 116985 genome.wustl.edu 37 11 72406085 72406085 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001040118.2 -1 reviewed p.V1212M 0.766 187 0% 146 34.9% 116 40.5% possibly_damaging(0.592) tolerated(0.21) neutral(0.248) HMMPfam_RA ATM 472 genome.wustl.edu 37 11 108190745 108190746 + Frame_Shift_Del DEL AG AG - novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_000051.3 +1 reviewed p.E2139fs 1.000:0.999 - - - - - - - - - HMMPfam_FAT,superfamily_ARM repeat ARHGAP20 57569 genome.wustl.edu 37 11 110450579 110450579 + Missense_Mutation SNP T T C novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_020809.2 -1 validated p.T1031A 1.000 140 0% 142 14.1% 0 - probably_damaging(0.971) deleterious(0) deleterious(0.857) NULL C11orf88 399949 genome.wustl.edu 37 11 111407527 111407527 + Missense_Mutation SNP A A G novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_207430.2 +1 validated p.Q189R 0.882 304 0% 281 27.4% 55 80% benign(0.021) deleterious(0) neutral(0.446) NULL SIK2 23235 genome.wustl.edu 37 11 111590662 111590662 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_015191.1 +1 validated p.R477H 1.000 79 0% 71 16.9% 15 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Protein kinase-like (PK-like) DIXDC1 85458 genome.wustl.edu 37 11 111864294 111864294 + Silent SNP T T C novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001037954.2 +1 validated p.L449P 0.552 167 0.6% 157 24.2% 8 12.5% - - - NULL SORL1 6653 genome.wustl.edu 37 11 121490626 121490626 + Missense_Mutation SNP G G T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_003105.4 +1 reviewed p.L1963F 1.000 222 0% 213 12.7% 13 23% possibly_damaging(0.882) deleterious(0.02) deleterious(0.728) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III CDON 50937 genome.wustl.edu 37 11 125873951 125873951 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_016952.4 -1 validated p.M624I 0.029 124 0% 140 12.1% 1 0% benign(0.005) tolerated(0.54) neutral(0.007) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III VWF 7450 genome.wustl.edu 37 12 6125770 6125770 + Silent SNP A A G novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_000552.3 -1 reviewed p.I1741 0.090 152 0% 134 13.4% 66 0% - - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like PTMS 5763 genome.wustl.edu 37 12 6879330 6879330 + Silent SNP A A G novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_002824.4 +1 validated p.E68 1.000 119 0% 123 21.1% 460 17.8% unknown(0) - - HMMPfam_Prothymosin EPS8 2059 genome.wustl.edu 37 12 15834226 15834226 + Missense_Mutation SNP A A G novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_004447.5 -1 reviewed p.S24P 1.000 68 0% 85 27.1% 22 31.8% benign(0) tolerated(0.06) neutral(0.323) NULL SLCO1A2 6579 genome.wustl.edu 37 12 21428270 21428270 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b ENST00000390670 -1 known p.H565Y 0.001 44 0% 57 15.8% 0 - benign(0) deleterious(0.01) neutral(0.406) NULL CASC1 55259 genome.wustl.edu 37 12 25311420 25311420 + Silent SNP G G T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_018272.3 -1 validated p.R62 0.000 473 0.2% 584 19.5% 4 0% - - - NULL KRAS 3845 genome.wustl.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 byCluster TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_033360.2 -1 reviewed p.G12D 1.000 340 0% 417 43.4% 10 80% possibly_damaging(0.886) deleterious(0) deleterious(0.791) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases KLHDC5 57542 genome.wustl.edu 37 12 27950766 27950766 + Silent SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_020782.1 +1 validated p.I395 0.995 47 0% 45 15.6% 16 31.2% - - - HMMPfam_Kelch_1,superfamily_Galactose oxidase central domain DNM1L 10059 genome.wustl.edu 37 12 32873712 32873712 + Silent SNP T T C novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_012062.3 +1 reviewed p.L285 1.000 256 0% 275 11.6% 5 40% - - - HMMPfam_Dynamin_M,superfamily_P-loop containing nucleoside triphosphate hydrolases TUBA1A 7846 genome.wustl.edu 37 12 49579767 49579767 + Missense_Mutation SNP G G T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_006009.2 -1 reviewed p.Q128K 1.000 160 0% 172 12.2% 415 26.7% benign(0) deleterious(0.02) neutral(0.383) HMMPfam_Tubulin,superfamily_Tubulin nucleotide-binding domain-like CERS5 91012 genome.wustl.edu 37 12 50529536 50529536 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_147190.2 -1 provisional p.R284Q 1.000 147 0% 145 12.4% 29 34.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TRAM_LAG1_CLN8,HMMSmart_TLC OR2AP1 121129 genome.wustl.edu 37 12 55968615 55968615 + Silent SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b ENST00000321688 +1 known p.C139 0.000 111 0% 133 18.8% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OSBPL8 114882 genome.wustl.edu 37 12 76769071 76769071 + Missense_Mutation SNP T T C novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_020841.4 -1 reviewed p.I603M 1.000 346 0% 356 27.5% 9 44.4% benign(0.057) deleterious(0.01) neutral(0.409) HMMPfam_Oxysterol_BP PLXNC1 10154 genome.wustl.edu 37 12 94654530 94654530 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_005761.1 +1 provisional p.P1122S 1.000 201 0% 191 14.1% 7 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_Rho_GAP,HMMPfam_Plexin_cytopl ACACB 32 genome.wustl.edu 37 12 109704126 109704126 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001093.3 +1 reviewed p.V2446I 0.000 20 0% 17 23.5% 5 0% benign(0) tolerated(0.25) neutral(0.037) NULL DDX54 79039 genome.wustl.edu 37 12 113612890 113612890 + Silent SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001111322.1 -1 reviewed p.V275 1.000 47 0% 44 13.6% 57 24.5% - - - HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases SDSL 113675 genome.wustl.edu 37 12 113866973 113866973 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_138432.2 +1 provisional p.A75T 1.000 68 0% 63 20.6% 16 6.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PALP,superfamily_PyrdxlP-dep_enz_bsu PRKAB1 5564 genome.wustl.edu 37 12 120117782 120117782 + Silent SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_006253.4 +1 reviewed p.N237 1.000 384 0% 340 10.6% 88 12.5% - - - HMMPfam_AMPKBI DHX37 57647 genome.wustl.edu 37 12 125437064 125437064 + Silent SNP C C T rs34950844 byCluster;byFrequency;by1000genomes TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_032656.2 -1 reviewed p.P916 0.132 53 0% 56 23.2% 14 14.2% - - - HMMPfam_DUF1605 RIMBP2 23504 genome.wustl.edu 37 12 130921588 130921588 + Silent SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_015347.4 -1 validated p.H618 0.010 147 0% 130 20.8% 0 - - - - NULL PARP4 143 genome.wustl.edu 37 13 25068713 25068713 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_006437.3 -1 reviewed p.A247T 0.938 446 0% 438 13.9% 17 35.2% possibly_damaging(0.911) tolerated(0.1) deleterious(0.649) NULL NBEA 26960 genome.wustl.edu 37 13 35734112 35734112 + Silent SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_015678.4 +1 validated p.D1268 0.970 148 0% 117 16.2% 1 0% - - - superfamily_ARM repeat FREM2 341640 genome.wustl.edu 37 13 39263338 39263338 + Silent SNP T T C novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_207361.4 +1 reviewed p.H619 0.000 446 0% 421 13.8% 0 - - - - NULL SLC25A15 10166 genome.wustl.edu 37 13 41381530 41381532 + In_Frame_Del DEL TTC TTC - novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_014252.3 +1 reviewed p.F188in_frame_del 1.000:1.000:1.000 - - - - - - - - - superfamily_Mitochondrial carrier,HMMPfam_Mito_carr LOC341689 341689 genome.wustl.edu 37 13 59103567 59103567 + RNA SNP A A G novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b XR_017487.3 +1 model NULL 0.217 198 0% 210 17.1% 0 - - - - - MYO16 23026 genome.wustl.edu 37 13 109365071 109365071 + Missense_Mutation SNP C C A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_015011.1 +1 validated p.L97I 1.000 113 0% 92 37% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat TOX4 9878 genome.wustl.edu 37 14 21961130 21961130 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_014828.2 +1 validated p.P452L 1.000 45 0% 47 10.6% 45 17.7% possibly_damaging(0.877) deleterious(0) deleterious(0.786) NULL G2E3 55632 genome.wustl.edu 37 14 31074967 31074969 + In_Frame_Del DEL TCA TCA - novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 TCA TCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_017769.3 +1 validated p.S424in_frame_del 1.000:1.000:0.997 - - - - - - - - - HMMPfam_HECT,superfamily_HECT SLC39A9 55334 genome.wustl.edu 37 14 69866089 69866089 + Missense_Mutation SNP G G T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_018375.3 +1 validated p.M1I 1.000 634 0% 658 33% 16 31.2% benign(0.016) deleterious(0) neutral(0.445) NULL AHSA1 10598 genome.wustl.edu 37 14 77929019 77929019 + Missense_Mutation SNP C C A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_012111.2 +1 validated p.T130K 1.000 297 0% 260 30.4% 170 40.5% possibly_damaging(0.942) tolerated(0.27) neutral(0.420) HMMPfam_Aha1_N,superfamily_Activator of Hsp90 ATPase Aha1 SLC24A4 123041 genome.wustl.edu 37 14 92909078 92909078 + Missense_Mutation SNP A A G novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_153646.2 +1 validated p.D150G 1.000 431 0% 423 29.6% 0 - probably_damaging(1) deleterious(0.05) deleterious(0.845) HMMPfam_Na_Ca_ex PPP2R5C 5527 genome.wustl.edu 37 14 102384272 102384272 + Silent SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_002719.3 +1 reviewed p.D477 0.997 285 0% 226 23.9% 6 0% - - - NULL DYNC1H1 1778 genome.wustl.edu 37 14 102499764 102499764 + Silent SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001376.4 +1 reviewed p.A3452 0.037 108 0% 83 15.7% 135 16.2% - - - NULL PPP1R13B 23368 genome.wustl.edu 37 14 104205139 104205139 + Missense_Mutation SNP G G T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_015316.2 -1 reviewed p.P914H 1.000 118 0% 121 15.7% 49 16.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_ANK IGHV3-7 28452 genome.wustl.edu 37 14 106518460 106518460 + Silent SNP T T C novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b ENST00000390598 -1 known p.S97 0.000 376 0% 439 10.5% 47 0% - - - HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin HERC2 8924 genome.wustl.edu 37 15 28473477 28473477 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_004667.4 -1 reviewed p.R1784H 1.000 358 0% 364 29.1% 7 28.5% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL HERC2 8924 genome.wustl.edu 37 15 28493757 28493757 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_004667.4 -1 reviewed p.R1059H 1.000 257 0% 262 29% 2 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ZNF770 54989 genome.wustl.edu 37 15 35275533 35275533 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_014106.2 -1 validated p.H35Y 1.000 279 0% 245 22.4% 7 14.2% possibly_damaging(0.861) tolerated(0.33) neutral(0.357) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 LOC100288995 100288995 genome.wustl.edu 37 15 41228676 41228676 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b XM_002343338.1 -1 model p.G134S 0.000 80 0% 53 17% 18 0% - - - NULL MAPKBP1 23005 genome.wustl.edu 37 15 42110725 42110725 + Missense_Mutation SNP A A G novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001128608.1 +1 validated p.T707A 1.000 599 0% 563 19% 5 20% probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 FRMD5 84978 genome.wustl.edu 37 15 44177949 44177949 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_032892.3 -1 validated p.E297K 1.000 141 0% 125 18.4% 0 - probably_damaging(0.998) tolerated(0.61) deleterious(0.478) HMMPfam_FERM_C,superfamily_PH domain-like EID1 23741 genome.wustl.edu 37 15 49170530 49170530 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_014335.2 +1 validated p.E53K 0.912 65 0% 74 27% 228 34.6% probably_damaging(0.968) tolerated(0.2) neutral(0.459) NULL HERC1 8925 genome.wustl.edu 37 15 64039185 64039185 + Nonsense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_003922.3 -1 reviewed p.Q818* 1.000 159 0% 153 11.8% 3 0% - - - NULL NPRL3 8131 genome.wustl.edu 37 16 142708 142708 + Silent SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b ENST00000399953 -1 known p.A349 0.069 164 0% 104 32.7% 97 44.3% - - - HMMPfam_UPF0171 CASKIN1 57524 genome.wustl.edu 37 16 2235129 2235129 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_020764.3 -1 validated p.G408S 0.304 50 0% 36 19.4% 0 - possibly_damaging(0.932) tolerated(0.12) deleterious(0.639) NULL SLX4 84464 genome.wustl.edu 37 16 3640795 3640795 + Silent SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_032444.2 -1 provisional p.A948 0.000 38 0% 65 13.8% 2 0% - - - NULL TRAP1 10131 genome.wustl.edu 37 16 3721734 3721734 + Silent SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_016292.2 -1 validated p.S408 0.701 38 0% 40 25% 144 34% - - - superfamily_Ribosomal_S5_D2-typ_fold CORO7 79585 genome.wustl.edu 37 16 4410510 4410510 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_024535.3 -1 validated p.A653T 1.000 50 0% 62 19.4% 19 15.7% possibly_damaging(0.912) deleterious(0) deleterious(0.808) HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 GP2 2813 genome.wustl.edu 37 16 20329561 20329561 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001007240.1 -1 validated p.A403V 1.000 247 0% 221 16.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Zona_pellucida,HMMSmart_SM00241,PatternScan_ZP_1 C16orf92 146378 genome.wustl.edu 37 16 30035326 30035326 + Missense_Mutation SNP G G T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001109660.1 +1 predicted p.S99I 0.000 586 0% 584 30% 0 - probably_damaging(0.965) deleterious(0.01) deleterious(0.812) NULL ARMC5 79798 genome.wustl.edu 37 16 31473906 31473906 + Silent SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001105247.1 +1 validated p.Q346 1.000 96 0% 67 14.9% 7 28.5% - - - HMMSmart_SM00185,superfamily_ARM repeat LOC100287647 100287647 genome.wustl.edu 37 16 33941831 33941831 + Silent SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b XM_002343473.1 +1 model p.Q91 0.998 372 0% 403 12.4% 0 - - - - NULL OGFOD1 55239 genome.wustl.edu 37 16 56485605 56485605 + Silent SNP G G T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_018233.3 +1 validated p.S27 0.748 130 0% 110 11.8% 14 42.8% - - - NULL KATNB1 10300 genome.wustl.edu 37 16 57787372 57787372 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_005886.2 +1 reviewed p.R373H 0.002 33 0% 34 29.4% 45 22.2% possibly_damaging(0.598) tolerated(0.36) neutral(0.227) NULL SLC9A5 6553 genome.wustl.edu 37 16 67292325 67292325 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_004594.2 +1 validated p.R534Q 1.000 86 0% 92 41.3% 1 0% possibly_damaging(0.707) tolerated(0.1) deleterious(0.541) NULL AGRP 181 genome.wustl.edu 37 16 67516618 67516618 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001138.1 -1 reviewed p.T107M 1.000 67 0% 89 33.7% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Agouti,HMMSmart_Agouti,PatternScan_AGOUTI_1,superfamily_Agouti ZFHX3 463 genome.wustl.edu 37 16 72829284 72829284 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_006885.3 -1 reviewed p.A2433T 0.120 239 0% 224 10.7% 10 10% unknown(0) - - NULL ENSG00000226351 0 genome.wustl.edu 37 16 73127092 73127092 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b ENST00000433532 +1 known p.T46M 0.000 126 0% 139 10.8% 0 - - - - NULL TMEM170A 124491 genome.wustl.edu 37 16 75481528 75481528 + Silent SNP G G T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_145254.1 -1 provisional p.A121 0.999 300 0% 310 11.9% 9 11.1% - - - HMMPfam_Tmemb_170 COX4I1 1327 genome.wustl.edu 37 16 85839355 85839355 + Missense_Mutation SNP C C A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001861.2 +1 reviewed p.F86L 1.000 300 0% 229 27.5% 847 39.1% probably_damaging(0.981) deleterious(0.01) deleterious(0.831) HMMPfam_COX4,superfamily_Mitochondrial cytochrome c oxidase subunit IV MTHFSD 64779 genome.wustl.edu 37 16 86585863 86585863 + Silent SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b ENST00000381214 -1 known p.L52 0.968 184 0% 178 20.2% 3 0% - - - HMMPfam_5-FTHF_cyc-lig,superfamily_NagB/RpiA/CoA transferase-like FAM157C 100132055 genome.wustl.edu 37 16 90172952 90172952 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b XM_001714162.2 +1 model p.A247T 0.063 46 0% 31 12.9% 0 - - - - NULL MNT 4335 genome.wustl.edu 37 17 2290553 2290553 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_020310.2 -1 reviewed p.G464D 0.987 132 0% 115 14.8% 31 19.3% unknown(0) tolerated(0.48) - NULL KIAA0664 23277 genome.wustl.edu 37 17 2601268 2601268 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_015229.3 -1 validated p.R590H 0.310 32 0% 24 29.2% 47 25.5% possibly_damaging(0.732) tolerated(0.12) deleterious(0.528) NULL CTNS 1497 genome.wustl.edu 37 17 3558526 3558526 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001031681.2 +1 reviewed p.R114H 0.946 133 0% 127 29.9% 10 20% possibly_damaging(0.888) tolerated(0.06) deleterious(0.670) NULL ANKFY1 51479 genome.wustl.edu 37 17 4085525 4085525 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_016376.3 -1 validated p.P692L 1.000 80 0% 99 20.2% 14 7.1% probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK MINK1 50488 genome.wustl.edu 37 17 4797386 4797386 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_153827.4 +1 reviewed p.R890C 1.000 62 0% 52 15.4% 67 14.9% possibly_damaging(0.817) deleterious(0) deleterious(0.754) NULL ALOXE3 59344 genome.wustl.edu 37 17 8013593 8013593 + Silent SNP A A G novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_021628.2 -1 reviewed p.P374 0.003 32 0% 37 18.9% 0 - - - - HMMPfam_Lipoxygenase,superfamily_Lipoxygenase MYH8 4626 genome.wustl.edu 37 17 10293859 10293859 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_002472.2 -1 reviewed p.A1909V 1.000 291 0% 302 36.8% 0 - possibly_damaging(0.945) deleterious(0.02) deleterious(0.772) HMMPfam_Myosin_tail_1 MYH8 4626 genome.wustl.edu 37 17 10323417 10323417 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_002472.2 -1 reviewed p.A43V 0.000 615 0.3% 619 28.8% 0 - benign(0) tolerated(0.14) neutral(0.249) HMMPfam_Myosin_N MAPK7 5598 genome.wustl.edu 37 17 19286405 19286406 + Frame_Shift_Ins INS - - CG novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_002749.3 +1 reviewed p.S772fs 1.000:1.000 - - - - - - - - - NULL KIAA0100 9703 genome.wustl.edu 37 17 26966356 26966356 + Silent SNP A A G novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_014680.2 -1 validated p.P402 0.001 301 0.3% 274 12% 27 11.1% - - - NULL LYZL6 57151 genome.wustl.edu 37 17 34263832 34263832 + Silent SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_020426.1 -1 provisional p.L102 0.167 128 0% 111 18.9% 0 - - - - HMMPfam_Lys,HMMSmart_LYZ1,PatternScan_LACTALBUMIN_LYSOZYME_1,superfamily_SSF53955 TADA2A 6871 genome.wustl.edu 37 17 35825640 35825640 + Missense_Mutation SNP A A G novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001488.3 +1 reviewed p.H273R 1.000 503 0% 541 26.1% 10 60% possibly_damaging(0.925) tolerated(0.06) deleterious(0.696) NULL PSMD3 5709 genome.wustl.edu 37 17 38151531 38151533 + In_Frame_Del DEL ACA ACA - novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 ACA ACA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_002809.2 +1 reviewed p.N401in_frame_del 1.000:1.000:1.000 - - - - - - - - - "HMMPfam_PCI,HMMSmart_SM00088,superfamily_""Winged helix"" DNA-binding domain" PSMD3 5709 genome.wustl.edu 37 17 38153760 38153760 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_002809.2 +1 reviewed p.R511W 1.000 179 0% 172 14% 227 20.2% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Rpn3_C RARA 5914 genome.wustl.edu 37 17 38506177 38506177 + Missense_Mutation SNP T T C novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_000964.2 +1 validated p.S157P 1.000 170 0% 170 21.2% 66 19.6% possibly_damaging(0.7) tolerated(0.22) neutral(0.293) HMMPfam_zf-C4,superfamily_Nuclear receptor ligand-binding domain FZD2 2535 genome.wustl.edu 37 17 42635787 42635787 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001466.2 +1 reviewed p.A244V 1.000 54 0% 62 33.9% 34 35.2% probably_damaging(0.968) tolerated(0.1) deleterious(0.696) HMMPfam_Frizzled MAPT 4137 genome.wustl.edu 37 17 44087690 44087690 + Silent SNP T T C rs63750756 TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001123066.3 +1 validated p.N614 1.000 182 0% 141 37.6% 0 - - - - HMMPfam_Tubulin-binding KPNB1 3837 genome.wustl.edu 37 17 45754460 45754460 + Silent SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b ENST00000290158 +1 known p.D690 0.999 330 0% 334 31.1% 143 32.1% - - - superfamily_ARM repeat EME1 146956 genome.wustl.edu 37 17 48456217 48456218 + Frame_Shift_Del DEL CT CT - novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_152463.2 +1 reviewed p.L359fs 0.974:0.970 - - - - - - - - - HMMPfam_ERCC4 SCN4A 6329 genome.wustl.edu 37 17 62041914 62041914 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_000334.4 -1 reviewed p.A456T 1.000 278 0% 249 18.9% 0 - benign(0.135) deleterious(0.05) neutral(0.357) NULL ABCA6 23460 genome.wustl.edu 37 17 67084318 67084318 + Missense_Mutation SNP G G T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_080284.2 -1 reviewed p.P1230T 0.997 406 0% 371 22.4% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL MRPS7 51081 genome.wustl.edu 37 17 73258940 73258940 + Missense_Mutation SNP A A G novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_015971.3 +1 reviewed p.M111V 1.000 484 0% 418 19.1% 111 21.6% benign(0) tolerated(1) - superfamily_Ribosomal protein S7 KIAA0195 9772 genome.wustl.edu 37 17 73488745 73488745 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_014738.4 +1 validated p.A596V 0.998 141 0% 109 30.3% 34 41.1% possibly_damaging(0.798) tolerated(0.47) neutral(0.311) NULL FBF1 85302 genome.wustl.edu 37 17 73915875 73915875 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001080542.1 -1 provisional p.R656Q 0.002 128 0% 94 12.8% 7 14.2% benign(0.007) tolerated(1) - NULL MGAT5B 146664 genome.wustl.edu 37 17 74869037 74869037 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_198955.1 +1 validated p.R69H 1.000 157 0% 161 15.5% 0 - benign(0.064) deleterious(0.01) neutral(0.410) NULL USP36 57602 genome.wustl.edu 37 17 76823323 76823323 + Silent SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b ENST00000432878 -1 known p.C231 0.978 42 0% 30 16.7% 0 - - - - NULL CCDC40 55036 genome.wustl.edu 37 17 78023994 78023994 + Silent SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_017950.2 +1 validated p.S357 0.000 22 0% 27 18.5% 26 19.2% - - - NULL CD7 924 genome.wustl.edu 37 17 80273286 80273286 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_006137.6 -1 reviewed p.R212W 0.000 75 1.3% 67 14.9% 11 0% probably_damaging(0.994) deleterious(0.02) deleterious(0.835) NULL AFG3L2 10939 genome.wustl.edu 37 18 12329639 12329639 + Silent SNP T T C novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_006796.1 -1 reviewed p.P773 0.197 263 0% 257 10.5% 49 18.3% - - - NULL RNF125 54941 genome.wustl.edu 37 18 29617224 29617224 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_017831.3 +1 reviewed p.D104N 0.025 287 0% 260 17.7% 4 0% benign(0) tolerated(0.59) neutral(0.004) NULL PIAS2 9063 genome.wustl.edu 37 18 44470944 44470944 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_004671.2 -1 validated p.R33H 1.000 68 0% 75 16% 9 22.2% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_SAP,HMMSmart_SM00513 SLC25A41 284427 genome.wustl.edu 37 19 6427453 6427453 + Silent SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_173637.3 -1 validated p.C228 0.980 52 0% 47 12.8% 3 0% - - - superfamily_Mitochondrial carrier,HMMPfam_Mito_carr PNPLA6 10908 genome.wustl.edu 37 19 7623747 7623747 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_006702.4 +1 reviewed p.R1099C 0.998 54 0% 43 16.3% 109 19.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Patatin,superfamily_Acyl_Trfase/lysoPlipase ZNF558 148156 genome.wustl.edu 37 19 8932718 8932718 + Silent SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_144693.1 -1 provisional p.G27 0.000 510 0% 525 30.1% 8 50% - - - NULL ENSG00000188314 0 genome.wustl.edu 37 19 9346320 9346320 + Silent SNP C C A rs34854496 byCluster;by1000genomes TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b ENST00000344049 +1 known p.T62 0.139 174 0.6% 184 10.9% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 S1PR2 9294 genome.wustl.edu 37 19 10334939 10334939 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_004230.3 -1 validated p.V215M 1.000 36 0% 50 30% 20 40% benign(0.008) tolerated(0.09) neutral(0.296) HMMPfam_7tm_1,superfamily_SSF81321 ATG4D 84971 genome.wustl.edu 37 19 10662719 10662719 + Splice_Site SNP A A G novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_032885.4 +1 reviewed e8-2 1.000 91 0% 96 15.6% 7 100% - - - - KANK2 25959 genome.wustl.edu 37 19 11287389 11287389 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001136191.2 -1 validated p.A542V 0.000 183 0% 179 17.9% 69 2.8% benign(0) tolerated(0.29) neutral(0.029) NULL ELAVL3 1995 genome.wustl.edu 37 19 11568981 11568981 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001420.3 -1 reviewed p.A203V 1.000 74 0% 64 14.1% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_RNA-binding domain RBD ZNF69 7620 genome.wustl.edu 37 19 12016514 12016514 + Silent SNP T T C novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b ENST00000429654 +1 known p.H434 0.361 185 0% 199 10.6% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ASNA1 439 genome.wustl.edu 37 19 12848478 12848478 + Silent SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_004317.2 +1 validated p.C53 1.000 54 0% 59 11.9% 106 18.8% - - - HMMPfam_ArsA_ATPase,superfamily_P-loop containing nucleoside triphosphate hydrolases CACNA1A 773 genome.wustl.edu 37 19 13482585 13482585 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001127222.1 -1 reviewed p.A183V 0.993 39 0% 41 12.2% 0 - possibly_damaging(0.508) deleterious(0.02) deleterious(0.553) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels NOTCH3 4854 genome.wustl.edu 37 19 15285055 15285055 + Silent SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_000435.2 -1 reviewed p.P1520 0.569 12 0% 10 50% 103 40.7% - - - HMMPfam_NOD AKAP8 10270 genome.wustl.edu 37 19 15472978 15472979 + Frame_Shift_Del DEL TT TT - novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 TT TT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_005858.2 -1 reviewed p.K415fs 0.995:1.000 - - - - - - - - - HMMPfam_AKAP95 CIB3 117286 genome.wustl.edu 37 19 16275663 16275663 + Silent SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_054113.2 -1 reviewed p.T136 0.004 322 0% 344 29.4% 0 - - - - superfamily_EF-hand MYO9B 4650 genome.wustl.edu 37 19 17305633 17305633 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_004145.3 +1 reviewed p.V1133M 0.002 84 0% 79 32.9% 19 15.7% possibly_damaging(0.852) tolerated(0.23) neutral(0.369) NULL UNC13A 23025 genome.wustl.edu 37 19 17766129 17766129 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001080421.2 -1 validated p.A537V 1.000 47 0% 50 14% 1 0% benign(0.001) tolerated(0.36) neutral(0.020) NULL HAPLN4 404037 genome.wustl.edu 37 19 19371814 19371814 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_023002.2 -1 validated p.V98I 1.000 29 0% 26 15.4% 1 0% probably_damaging(0.966) tolerated(0.39) neutral(0.424) HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin PBX4 80714 genome.wustl.edu 37 19 19672883 19672883 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_025245.1 -1 reviewed p.A359V 0.056 115 0% 96 24% 3 33.3% possibly_damaging(0.556) deleterious(0) deleterious(0.634) NULL ZNF429 353088 genome.wustl.edu 37 19 21720863 21720863 + Nonsense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001001415.2 +1 provisional p.R670* 0.000 24 0% 21 19% 8 25% - - - NULL ZNF43 7594 genome.wustl.edu 37 19 21990990 21990990 + Missense_Mutation SNP T T C novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_003423.2 -1 validated p.T617A 1.000 156 0% 177 29.4% 3 0% benign(0.023) deleterious(0) neutral(0.446) superfamily_C2H2 and C2HC zinc fingers UBA2 10054 genome.wustl.edu 37 19 34960032 34960032 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_005499.2 +1 validated p.R610H 1.000 209 0% 202 27.7% 47 40.4% benign(0.016) tolerated(0.22) neutral(0.043) NULL ZNF792 126375 genome.wustl.edu 37 19 35449452 35449452 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_175872.4 -1 validated p.S436N 0.000 242 0% 232 11.6% 10 20% benign(0.122) tolerated(0.64) neutral(0.013) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers APLP1 333 genome.wustl.edu 37 19 36362251 36362251 + Missense_Mutation SNP G G C novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001024807.1 +1 reviewed p.E179D 1.000 157 0% 126 17.5% 2 0% benign(0.235) deleterious(0.01) neutral(0.429) HMMPfam_A4_EXTRA,HMMSmart_SM00006,superfamily_Amyloid beta a4 protein copper binding domain (domain 2) COX7A1 1346 genome.wustl.edu 37 19 36642594 36642594 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001864.2 -1 reviewed p.R27C 0.027 76 0% 76 10.5% 16 0% benign(0.075) deleterious(0) neutral(0.450) HMMPfam_COX7a,superfamily_Mitochondrial cytochrome c oxidase subunit VIIa ZNF461 92283 genome.wustl.edu 37 19 37130173 37130173 + Silent SNP T T C novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_153257.2 -1 validated p.E358 0.161 237 0% 284 19% 3 33.3% - - - HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers RYR1 6261 genome.wustl.edu 37 19 38959616 38959616 + Missense_Mutation SNP G G T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_000540.2 +1 reviewed p.W1131L 1.000 113 0% 112 27.7% 0 - possibly_damaging(0.649) - - HMMPfam_SPRY,HMMSmart_SM00449 PAPL 390928 genome.wustl.edu 37 19 39589194 39589194 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001004318.2 +1 validated p.R73H 0.246 79 0% 80 31.2% 0 - possibly_damaging(0.473) tolerated(0.09) neutral(0.453) superfamily_Purple_Pase_N ZNF155 7711 genome.wustl.edu 37 19 44500667 44500667 + Nonsense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_003445.2 +1 validated p.Q220* 0.000 420 0% 395 10.6% 9 11.1% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF229 7772 genome.wustl.edu 37 19 44932566 44932566 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_014518.2 -1 validated p.T797M 0.000 232 0% 241 17.4% 0 - possibly_damaging(0.593) deleterious(0.01) deleterious(0.611) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SYMPK 8189 genome.wustl.edu 37 19 46338404 46338404 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_004819.2 -1 reviewed p.T442M 1.000 100 0% 115 29.6% 57 42.1% probably_damaging(1) deleterious(0.04) deleterious(0.849) superfamily_ARM repeat BCAT2 587 genome.wustl.edu 37 19 49299964 49299964 + Silent SNP C C G novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001190.3 -1 reviewed p.R312 0.934 21 0% 17 23.5% 72 40.2% - - - HMMPfam_Aminotran_4,superfamily_D-aminoacid aminotransferase-like PLP-dependent enzymes NOSIP 51070 genome.wustl.edu 37 19 50059577 50059577 + Silent SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_015953.3 -1 provisional p.Q277 1.000 70 0% 83 10.8% 195 19.4% - - - NULL MYH14 79784 genome.wustl.edu 37 19 50775825 50775825 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001077186.1 +1 reviewed p.R1069W 0.990 59 0% 60 10% 89 19.1% probably_damaging(0.977) deleterious(0.01) deleterious(0.825) NULL ZNF615 284370 genome.wustl.edu 37 19 52497257 52497257 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_198480.2 -1 provisional p.R358C 0.031 263 0% 276 29.3% 4 25% probably_damaging(0.999) tolerated(0.06) deleterious(0.813) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC388559 388559 genome.wustl.edu 37 19 53411187 53411187 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b XM_496322.5 -1 model p.A112T 0.000 485 0.2% 478 13.2% 8 25% - - - NULL ZNF550 162972 genome.wustl.edu 37 19 58058953 58058953 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001039654.1 -1 provisional p.R179Q 0.019 324 0% 308 10.7% 8 12.5% probably_damaging(0.998) tolerated(1) deleterious(0.474) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC100130710 100130710 genome.wustl.edu 37 19 58153051 58153051 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b XM_001718544.2 -1 model p.A181T 0.075 199 0% 203 11.3% 18 16.6% - - - NULL ZNF552 79818 genome.wustl.edu 37 19 58320161 58320161 + Silent SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_024762.3 -1 validated p.A157 0.000 588 0% 498 14.7% 11 27.2% - - - NULL RBBP9 10741 genome.wustl.edu 37 20 18476489 18476489 + Silent SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_006606.2 -1 reviewed p.P45 1.000 201 0% 217 25.8% 14 14.2% - - - HMMPfam_DUF1234,superfamily_alpha/beta-Hydrolases THBD 7056 genome.wustl.edu 37 20 23028510 23028510 + Silent SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_000361.2 -1 reviewed p.G544 0.000 43 0% 28 32.1% 9 0% - - - NULL ZNF334 55713 genome.wustl.edu 37 20 45130930 45130930 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_018102.3 -1 validated p.E350K 0.001 370 0.3% 367 18.5% 0 - benign(0) tolerated(0.51) neutral(0.009) HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF831 128611 genome.wustl.edu 37 20 57769615 57769615 + Frame_Shift_Del DEL C C - novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_178457.1 +1 provisional p.P1181fs 0.992 - - - - - - - - - NULL PHACTR3 116154 genome.wustl.edu 37 20 58349367 58349367 + Silent SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_080672.3 +1 reviewed p.S332 0.985 266 0.4% 240 17.9% 0 - - - - NULL PHACTR3 116154 genome.wustl.edu 37 20 58349442 58349442 + Missense_Mutation SNP G G T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_080672.3 +1 reviewed p.K357N 0.049 363 0% 306 13.7% 0 - possibly_damaging(0.863) tolerated(0.17) neutral(0.393) NULL KCNQ2 3785 genome.wustl.edu 37 20 62071056 62071056 + Silent SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_172107.2 -1 reviewed p.T274 0.750 101 0% 94 11.7% 1 0% - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels RBM11 54033 genome.wustl.edu 37 21 15588530 15588530 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_144770.3 +1 validated p.A8V 1.000 115 0% 123 14.6% 0 - benign(0.003) tolerated(0.13) neutral(0.253) superfamily_RNA-binding domain RBD GRIK1 2897 genome.wustl.edu 37 21 31066220 31066220 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_000830.3 -1 reviewed p.R94Q 0.998 294 0% 303 32.3% 0 - possibly_damaging(0.921) tolerated(0.23) neutral(0.412) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I KRTAP25-1 100131902 genome.wustl.edu 37 21 31661714 31661714 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001128598.1 -1 validated p.R32H 0.000 272 0% 284 18.3% 0 - benign(0.356) - - NULL C21orf59 56683 genome.wustl.edu 37 21 33974538 33974538 + Silent SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b ENST00000425336 -1 known p.H116 0.000 248 0% 262 18.3% 5 20% unknown(0) - - NULL GCFC1 94104 genome.wustl.edu 37 21 34134467 34134467 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_016631.3 -1 reviewed p.R271C 1.000 374 0% 396 31.8% 3 0% probably_damaging(0.999) tolerated(0.15) deleterious(0.732) NULL MED15 51586 genome.wustl.edu 37 22 20937674 20937674 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001003891.1 +1 reviewed p.S577L 0.996 104 0% 86 31.4% 85 32.9% probably_damaging(0.962) deleterious(0.03) deleterious(0.770) NULL BCR 613 genome.wustl.edu 37 22 23651650 23651650 + Missense_Mutation SNP A A G rs71316760 TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_004327.3 +1 reviewed p.T1018A 0.971 33 18.2% 26 34.6% 104 15.3% benign(0.055) tolerated(0.36) neutral(0.024) superfamily_C2 domain (Calcium/lipid-binding domain CaLB) LRP5L 91355 genome.wustl.edu 37 22 25750681 25750681 + Silent SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001135772.1 -1 validated p.T179 0.271 254 0% 272 17.6% 9 22.2% - - - HMMPfam_Ldl_recept_b,HMMSmart_SM00135,superfamily_YWTD domain SF3A1 10291 genome.wustl.edu 37 22 30733844 30733844 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_005877.4 -1 reviewed p.V596I 1.000 83 0% 82 11% 97 11.3% possibly_damaging(0.444) - - NULL SFI1 9814 genome.wustl.edu 37 22 32000374 32000374 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001007467.1 +1 validated p.A654V 0.003 24 0% 22 31.8% 18 44.4% benign(0.007) deleterious(0.03) neutral(0.364) NULL RBFOX2 23543 genome.wustl.edu 37 22 36142013 36142013 + Missense_Mutation SNP T T A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001082578.1 -1 reviewed p.Y423F 1.000 113 0% 98 14.3% 41 14.6% possibly_damaging(0.942) deleterious(0.01) deleterious(0.792) NULL EP300 2033 genome.wustl.edu 37 22 41542813 41542813 + Silent SNP A A G novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001429.3 +1 reviewed p.P708 0.647 169 0% 164 12.8% 20 20% - - - NULL ZBED4 9889 genome.wustl.edu 37 22 50280695 50280695 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_014838.2 +1 validated p.V1129I 0.997 66 0% 56 17.9% 20 45% benign(0.103) tolerated(0.18) neutral(0.064) HMMPfam_hATC ARSH 347527 genome.wustl.edu 37 X 2933377 2933377 + Missense_Mutation SNP T T C novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001011719.1 +1 validated p.M236T 0.647 387 0% 403 29% 0 - probably_damaging(0.98) tolerated(0.26) neutral(0.458) HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core MID1 4281 genome.wustl.edu 37 X 10535360 10535360 + Silent SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_000381.2 -1 reviewed p.N76 1.000 155 0% 136 15.4% 7 0% - - - superfamily_RING/U-box ASB9 140462 genome.wustl.edu 37 X 15270503 15270503 + Nonsense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001031739.2 -1 reviewed p.W102* 1.000 76 0% 83 14.5% 0 - - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat GPR64 10149 genome.wustl.edu 37 X 19058338 19058338 + Silent SNP A A G novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001079858.2 -1 validated p.D41 0.054 422 0% 367 35.4% 2 0% - - - NULL RPS6KA3 6197 genome.wustl.edu 37 X 20185716 20185716 + Silent SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_004586.2 -1 reviewed p.H531 0.057 368 0% 357 10.6% 10 0% - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase CNKSR2 22866 genome.wustl.edu 37 X 21667020 21667020 + Missense_Mutation SNP T T A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_014927.3 +1 reviewed p.S922T 1.000 119 0% 115 20% 0 - benign(0) tolerated(0.32) neutral(0.024) NULL ZNF645 158506 genome.wustl.edu 37 X 22291388 22291388 + Missense_Mutation SNP C C A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_152577.2 +1 provisional p.P94T 0.199 82 0% 85 12.9% 0 - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMSmart_RING,superfamily_SSF57850 MAGEB6 158809 genome.wustl.edu 37 X 26212647 26212647 + Missense_Mutation SNP G G C novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_173523.2 +1 reviewed p.E228D 0.000 112 0% 69 30.4% 0 - benign(0.016) tolerated(0.13) neutral(0.253) HMMPfam_MAGE BCOR 54880 genome.wustl.edu 37 X 39932429 39932429 + Missense_Mutation SNP T T C novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001123385.1 -1 reviewed p.M724V 1.000 118 0% 100 13% 4 0% possibly_damaging(0.952) deleterious(0) deleterious(0.840) NULL USP9X 8239 genome.wustl.edu 37 X 41057933 41057933 + Silent SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001039590.2 +1 reviewed p.G1511 0.997 254 0% 247 10.1% 14 14.2% - - - NULL LOC729275 729275 genome.wustl.edu 37 X 48433430 48433430 + RNA SNP T T C novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b XR_078586.1 -1 model NULL 0.000 22 0% 21 28.6% 3 0% - - - - SUV39H1 6839 genome.wustl.edu 37 X 48559022 48559022 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_003173.2 +1 reviewed p.V236M 0.996 60 0% 59 16.9% 9 55.5% probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_SET domain CLCN5 1184 genome.wustl.edu 37 X 49840586 49840586 + Silent SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001127898.1 +1 reviewed p.D184 1.000 382 0% 431 15.8% 1 0% - - - superfamily_Clc chloride channel SNX12 29934 genome.wustl.edu 37 X 70288021 70288021 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_013346.2 -1 reviewed p.R46C 1.000 103 0% 78 21.8% 40 0% probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain CHRDL1 91851 genome.wustl.edu 37 X 109922563 109922563 + Splice_Site SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001143981.1 -1 reviewed e10+1 1.000 426 0% 402 29.6% 2 100% - - - - ALG13 79868 genome.wustl.edu 37 X 110968236 110968236 + Missense_Mutation SNP G G A novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b ENST00000394780 +1 known p.S559N 0.533 563 0% 597 17.3% 9 33.3% possibly_damaging(0.55) tolerated(0.4) neutral(0.203) NULL ARHGEF6 9459 genome.wustl.edu 37 X 135861592 135861592 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_004840.2 -1 reviewed p.C77Y 1.000 474 0% 448 19.6% 4 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain MAGEC1 9947 genome.wustl.edu 37 X 140994741 140994741 + Silent SNP T T C novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_005462.4 +1 reviewed p.P517 0.999 315 0% 274 20.8% 0 - - - - NULL ATP6AP1 537 genome.wustl.edu 37 X 153663830 153663830 + Missense_Mutation SNP G G T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_001183.4 +1 reviewed p.Q394H 0.001 43 0% 48 16.7% 245 0% benign(0.003) tolerated(0.17) neutral(0.059) HMMPfam_ATP-synt_S1 G6PD 2539 genome.wustl.edu 37 X 153760967 153760967 + Missense_Mutation SNP C C T novel TCGA-D1-A16F-01A-11D-A12J-09 TCGA-D1-A16F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2eca7ba9-fdbd-4208-82a7-64055597230b f1aab667-9406-4030-be2a-d7690ac8a57b NM_000402.3 -1 reviewed p.E398K 0.995 76 0% 38 13.2% 92 36.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_G6PD_C,superfamily_SSF55347