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 AGRN 375790 genome.wustl.edu 37 1 983473 983473 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_198576.2 +1 validated p.R1278H 0.000 20 0% 19 26.3% 1 100% possibly_damaging(0.865) tolerated(0.13) deleterious(0.588) NULL ACAP3 116983 genome.wustl.edu 37 1 1238586 1238586 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_030649.2 -1 validated p.V61I 0.920 46 0% 17 29.4% 1 0% benign(0.001) tolerated(0.72) neutral(0.002) NULL CCNL2 81669 genome.wustl.edu 37 1 1322784 1322784 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_030937.4 -1 validated p.R464W 1.000 185 0% 116 29.3% 30 36.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL NADK 65220 genome.wustl.edu 37 1 1684348 1684350 + In_Frame_Del DEL CCT CCT - rs112506726 TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 CCT CCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_023018.3 -1 validated p.E445in_frame_del 0.794:0.761:0.267 - - - - - - - - - NULL NPHP4 261734 genome.wustl.edu 37 1 5947513 5947513 + Missense_Mutation SNP T T C novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_015102.2 -1 reviewed p.Q773R 1.000 45 0% 20 30% 1 100% benign(0.151) tolerated(0.17) neutral(0.072) NULL RERE 473 genome.wustl.edu 37 1 8418661 8418661 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001042681.1 -1 reviewed p.R1312W 1.000 137 0% 68 38.2% 10 40% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Atrophin-1 SLC2A5 6518 genome.wustl.edu 37 1 9098903 9098903 + Missense_Mutation SNP G G T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_003039.2 -1 validated p.A361E 0.000 13 0.000 8 0.625 7 0% benign(0.313) deleterious(0.01) deleterious(0.503) HMMPfam_Sugar_tr,superfamily_MFS_gen_substrate_transporter MTHFR 4524 genome.wustl.edu 37 1 11863236 11863236 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 ENST00000423400 -1 known p.R3W 0.000 74 0% 31 32.3% 0 - unknown(0) - - NULL UBR4 23352 genome.wustl.edu 37 1 19492181 19492181 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_020765.2 -1 validated p.R1394C 1.000 276 0.7% 112 23.2% 0 - benign(0.031) tolerated(0.1) neutral(0.288) superfamily_ARM repeat USP48 84196 genome.wustl.edu 37 1 22074646 22074646 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_032236.5 -1 reviewed p.R298H 1.000 428 0% 168 29.2% 6 83.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UCH,superfamily_Cysteine proteinases E2F2 1870 genome.wustl.edu 37 1 23847483 23847483 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_004091.2 -1 reviewed p.T220M 0.000 178 0% 91 14.3% 0 - benign(0.003) tolerated(0.14) neutral(0.249) NULL MAP3K6 9064 genome.wustl.edu 37 1 27682194 27682194 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_004672.3 -1 reviewed p.A1252T 1.000 366 0% 210 18.6% 51 27.4% probably_damaging(0.977) tolerated(0.21) neutral(0.463) superfamily_SAM/Pointed domain FGR 2268 genome.wustl.edu 37 1 27942301 27942301 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001042729.1 -1 reviewed p.P246L 1.000 46 0% 23 26.1% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Kinase_like,superfamily_SSF55550 MATN1 4146 genome.wustl.edu 37 1 31188062 31188062 + Silent SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_002379.3 -1 reviewed p.T434 0.018 460 0.4% 210 20% 0 - - - - HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300 ZMYM4 9202 genome.wustl.edu 37 1 35827356 35827356 + Missense_Mutation SNP T T C novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_005095.2 +1 validated p.L269P 1.000 276 0% 183 26.2% 1 0% benign(0.266) tolerated(0.08) neutral(0.328) NULL ZMYM4 9202 genome.wustl.edu 37 1 35873676 35873676 + Silent SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 ENST00000457946 +1 known p.P947S 1.000 354 0% 195 25.6% 8 62.5% - - - NULL MACF1 23499 genome.wustl.edu 37 1 39916826 39916826 + Nonsense_Mutation SNP G G T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 ENST00000372925 +1 known p.G3732* 1.000 163 0% 78 15.4% 3 33.3% probably_damaging(1) tolerated(0.09) deleterious(0.796) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat PLK3 1263 genome.wustl.edu 37 1 45271170 45271170 + Silent SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_004073.2 +1 validated p.Y587 0.831 233 0% 92 33.7% 23 13% - - - HMMPfam_POLO_box,superfamily_Polo-box domain HECTD3 79654 genome.wustl.edu 37 1 45471738 45471738 + Silent SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_024602.5 -1 validated p.C592 0.996 91 0% 62 12.9% 4 0% - - - HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain SLC1A7 6512 genome.wustl.edu 37 1 53555542 53555542 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_006671.4 -1 validated p.V431I 1.000 60 0% 29 20.7% 0 - probably_damaging(0.999) tolerated(0.08) deleterious(0.790) HMMPfam_SDF TYW3 127253 genome.wustl.edu 37 1 75229619 75229619 + Missense_Mutation SNP T T C novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_138467.2 +1 validated p.M201T 0.000 155 0% 67 26.9% 7 85.7% benign(0) tolerated(0.29) neutral(0.029) NULL IFI44L 10964 genome.wustl.edu 37 1 79093737 79093737 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_006820.2 +1 validated p.R46H 0.001 204 0% 73 28.8% 1 0% benign(0) tolerated(0.61) neutral(0.004) NULL GBP4 115361 genome.wustl.edu 37 1 89650944 89650944 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_052941.4 -1 validated p.R639H 0.000 299 0% 250 27.6% 5 0% possibly_damaging(0.438) deleterious(0.03) deleterious(0.507) NULL ZNF644 84146 genome.wustl.edu 37 1 91403294 91403296 + In_Frame_Del DEL CTT CTT - novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_201269.1 -1 validated p.E1145in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL BTBD8 284697 genome.wustl.edu 37 1 92546141 92546141 + Missense_Mutation SNP G G T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_183242.3 +1 validated p.G5W 0.996 74 0% 26 23.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL MAB21L3 126868 genome.wustl.edu 37 1 116666822 116666822 + Missense_Mutation SNP G G T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_152367.2 +1 validated p.G109C 0.789 155 0% 67 46.3% 0 - possibly_damaging(0.943) deleterious(0) deleterious(0.832) NULL NBPF14 25832 genome.wustl.edu 37 1 148025815 148025815 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_015383.1 -1 predicted p.R6Q 0.001 466 0% 175 16% 0 - benign(0.362) tolerated(0.08) neutral(0.415) NULL SF3B4 10262 genome.wustl.edu 37 1 149898300 149898300 + Missense_Mutation SNP A A G novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_005850.3 -1 reviewed p.V225A 0.995 120 0% 71 26.8% 80 33.7% benign(0.026) tolerated(0.59) neutral(0.005) NULL ENSA 2029 genome.wustl.edu 37 1 150598215 150598215 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_207042.1 -1 reviewed p.A101T 1.000 441 0% 207 23.2% 138 31.8% possibly_damaging(0.905) tolerated(0.17) neutral(0.418) HMMPfam_Endosulfine INTS3 65123 genome.wustl.edu 37 1 153724779 153724779 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_023015.3 +1 validated p.R252W 1.000 428 0% 256 25.4% 4 25% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CREB3L4 148327 genome.wustl.edu 37 1 153945250 153945252 + In_Frame_Del DEL GAG GAG - novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_130898.2 +1 provisional p.E193in_frame_del 1.000:1.000:0.999 - - - - - - - - - superfamily_Euk_transcr_DNA KCNN3 3782 genome.wustl.edu 37 1 154680586 154680588 + In_Frame_Del DEL GCT GCT - rs149440400 by1000genomes TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 GCT GCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_002249.4 -1 reviewed p.Q687in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL KCNN3 3782 genome.wustl.edu 37 1 154842243 154842243 + Silent SNP A A C novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_002249.4 -1 reviewed p.L66 0.000 25 0% 34 35.3% 0 - - - - NULL ZBTB7B 51043 genome.wustl.edu 37 1 154987219 154987219 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_015872.2 +1 validated p.R28H 1.000 65 0% 37 40.5% 5 60% probably_damaging(0.984) deleterious(0) deleterious(0.875) superfamily_BTB/POZ_fold,HMMPfam_BTB LOC100289439 100289439 genome.wustl.edu 37 1 155295483 155295483 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 XM_002342139.1 -1 model p.T34I 0.000 151 0% 90 22.2% 0 - - - - NULL NES 10763 genome.wustl.edu 37 1 156640397 156640397 + Missense_Mutation SNP T T C novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_006617.1 -1 reviewed p.T1195A 0.000 61 0% 35 40% 8 0% benign(0) tolerated(0.21) neutral(0.044) NULL PEX19 5824 genome.wustl.edu 37 1 160253338 160253338 + Silent SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_002857.3 -1 reviewed p.S54 0.979 218 0.5% 115 21.7% 4 0% - - - NULL RFWD2 64326 genome.wustl.edu 37 1 176054997 176054997 + Silent SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_022457.5 -1 validated p.T352 0.863 326 0% 150 30% 9 11.1% - - - superfamily_WD40 repeat-like RASAL2 9462 genome.wustl.edu 37 1 178442219 178442219 + Missense_Mutation SNP A A G novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_170692.2 +1 reviewed p.I1219V 1.000 235 0.4% 74 32.4% 1 100% possibly_damaging(0.933) deleterious(0.01) deleterious(0.784) NULL TOR1AIP1 26092 genome.wustl.edu 37 1 179851896 179851896 + Silent SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_015602.2 +1 validated p.L87 0.009 89 0% 52 38.5% 0 - - - - NULL EDEM3 80267 genome.wustl.edu 37 1 184692924 184692924 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_025191.3 -1 validated p.V272M 0.996 280 0% 189 27.5% 0 - possibly_damaging(0.658) deleterious(0.01) deleterious(0.638) HMMPfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 TROVE2 6738 genome.wustl.edu 37 1 193053734 193053737 + Frame_Shift_Del DEL TTGT TTGT - novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 TTGT TTGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_004600.5 +1 validated p.C499fs 1.000:1.000:1.000:1.000 - - - - - - - - - NULL IPO9 55705 genome.wustl.edu 37 1 201843997 201843997 + Silent SNP A A G novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_018085.4 +1 validated p.E957 0.591 424 0% 194 17.5% 16 31.2% - - - superfamily_ARM repeat GPR37L1 9283 genome.wustl.edu 37 1 202097525 202097527 + In_Frame_Del DEL CTG CTG - novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 CTG CTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_004767.3 +1 validated p.C433in_frame_del 0.998:0.998:0.996 - - - - - - - - - superfamily_Family A G protein-coupled receptor-like PPP1R12B 4660 genome.wustl.edu 37 1 202457690 202457690 + Missense_Mutation SNP A A G novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_032105.2 +1 reviewed p.E627G 1.000 305 0% 108 20.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL MYBPH 4608 genome.wustl.edu 37 1 203144718 203144718 + Missense_Mutation SNP T T C novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_004997.2 -1 validated p.T56A 0.000 35 0% 16 31.2% 0 - benign(0) tolerated(0.85) neutral(0.001) NULL CENPF 1063 genome.wustl.edu 37 1 214815548 214815548 + Silent SNP T T C novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_016343.3 +1 reviewed p.L1289 0.000 166 0% 48 25% 0 - - - - NULL USH2A 7399 genome.wustl.edu 37 1 215956223 215956223 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_206933.2 -1 reviewed p.S3481N 0.971 219 0% 74 33.8% 0 - possibly_damaging(0.487) tolerated(0.4) neutral(0.178) HMMSmart_SM00060,superfamily_Fibronectin type III URB2 9816 genome.wustl.edu 37 1 229771492 229771492 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_014777.2 +1 provisional p.D378N 1.000 99 0% 33 30.3% 0 - probably_damaging(0.984) deleterious(0) deleterious(0.875) NULL FMN2 56776 genome.wustl.edu 37 1 240370979 240370979 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_020066.4 +1 validated p.P956L 0.874 78 0% 49 28.6% 0 - unknown(0) tolerated(0.23) - HMMSmart_FH2,HMMPfam_Drf_FH1 OR2B11 127623 genome.wustl.edu 37 1 247614785 247614785 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001004492.1 -1 provisional p.T167M 0.017 61 1.6% 34 32.4% 0 - probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_7tm_1,superfamily_SSF81321 KCNS3 3790 genome.wustl.edu 37 2 18113421 18113421 + Silent SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_002252.3 +1 reviewed p.A382 0.000 197 0% 92 32.6% 3 0% - - - HMMPfam_Ion_trans,superfamily_SSF81324 UBXN2A 165324 genome.wustl.edu 37 2 24199912 24199912 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_181713.3 +1 validated p.A85V 1.000 136 0% 102 23.5% 8 25% possibly_damaging(0.923) tolerated(0.26) neutral(0.406) HMMPfam_SEP,HMMSmart_SEP,superfamily_SEP ADCY3 109 genome.wustl.edu 37 2 25044482 25044482 + Nonsense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_004036.3 -1 reviewed p.Q1011* 1.000 104 1% 32 25% 8 0% - - - HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase EFR3B 22979 genome.wustl.edu 37 2 25366691 25366691 + Silent SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 ENST00000264719 +1 known p.L506F 0.145 146 0% 84 21.4% 0 - - - - NULL BIRC6 57448 genome.wustl.edu 37 2 32690159 32690159 + Silent SNP T T C novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_016252.3 +1 reviewed p.L1761 1.000 431 0% 389 21.3% 1 0% - - - NULL DYSF 8291 genome.wustl.edu 37 2 71730345 71730345 + Missense_Mutation SNP T T C novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001130987.1 +1 reviewed p.F81L 1.000 74 0% 36 30.6% 0 - benign(0) tolerated(1) - HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB TMEM127 55654 genome.wustl.edu 37 2 96919780 96919781 + In_Frame_Ins INS - - TGC novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_017849.1 -1 provisional p.161in_frame_insQ 1.000:1.000 - - - - - - - - - NULL TMEM131 23505 genome.wustl.edu 37 2 98375419 98375419 + Silent SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_015348.1 -1 validated p.S1768 0.215 115 0% 69 23.2% 26 23% - - - NULL TGFBRAP1 9392 genome.wustl.edu 37 2 105912819 105912819 + Missense_Mutation SNP T T A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001142621.1 -1 validated p.K344N 1.000 260 0% 154 27.9% 0 - possibly_damaging(0.793) tolerated(0.26) neutral(0.332) NULL POTEE 445582 genome.wustl.edu 37 2 132010544 132010544 + Silent SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001083538.1 +1 validated p.V550 0.001 1501 0% 576 18.6% 0 - - - - NULL LRP1B 53353 genome.wustl.edu 37 2 141643776 141643776 + Missense_Mutation SNP G G T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_018557.2 -1 validated p.Q1299K 1.000 201 0% 76 27.6% 0 - benign(0.291) tolerated(0.53) neutral(0.097) HMMSmart_LY,superfamily_SSF63825 UPP2 151531 genome.wustl.edu 37 2 158958589 158958589 + Missense_Mutation SNP T T C novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001135098.1 +1 validated p.I62T 0.997 349 0% 201 33.3% 0 - benign(0.004) deleterious(0) neutral(0.445) NULL TTN 7273 genome.wustl.edu 37 2 179428834 179428834 + Missense_Mutation SNP G G C novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 ENST00000356127 -1 known p.T24772S 0.992 209 0% 38 21.1% 0 - benign(0.109) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set ITGAV 3685 genome.wustl.edu 37 2 187529934 187529934 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_002210.3 +1 reviewed p.A719T 1.000 231 0% 84 25% 2 50% probably_damaging(0.991) tolerated(0.18) deleterious(0.500) HMMPfam_Integrin_alpha2,superfamily_Integrin domains COL3A1 1281 genome.wustl.edu 37 2 189856425 189856425 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_000090.3 +1 reviewed p.R310W 1.000 287 0% 87 24.1% 24 0% unknown(0) deleterious(0.02) - HMMPfam_Collagen SLC40A1 30061 genome.wustl.edu 37 2 190426775 190426775 + Silent SNP T T C novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_014585.5 -1 reviewed p.P515 0.003 245 0% 82 23.2% 103 47.5% - - - superfamily_MFS general substrate transporter KANSL1L 151050 genome.wustl.edu 37 2 210894590 210894590 + Silent SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_152519.2 -1 validated p.S736 0.995 360 0% 238 23.1% 0 - - - - NULL SLC19A3 80704 genome.wustl.edu 37 2 228552132 228552132 + Missense_Mutation SNP A A G novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_025243.3 -1 reviewed p.I491T 0.000 304 0% 122 15.6% 0 - possibly_damaging(0.727) deleterious(0.02) deleterious(0.647) NULL DIS3L2 129563 genome.wustl.edu 37 2 233128109 233128109 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_152383.4 +1 validated p.R540C 1.000 239 0% 67 25.4% 11 54.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RNB AGAP1 116987 genome.wustl.edu 37 2 237032650 237032650 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001037131.1 +1 validated p.V820M 0.977 39 0% 26 26.9% 3 33.3% benign(0.03) deleterious(0) neutral(0.446) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat CRBN 51185 genome.wustl.edu 37 3 3192695 3192695 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_016302.3 -1 reviewed p.A395T 1.000 245 0.8% 124 28.2% 11 9% benign(0.004) tolerated(0.62) neutral(0.004) NULL TADA3 10474 genome.wustl.edu 37 3 9831639 9831639 + Silent SNP G G T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_006354.2 -1 reviewed p.T72 0.972 68 0% 47 27.7% 18 22.2% - - - NULL SLC6A1 6529 genome.wustl.edu 37 3 11067562 11067562 + Missense_Mutation SNP G G T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_003042.3 +1 validated p.R318M 1.000 171 0% 69 24.6% 0 - possibly_damaging(0.922) deleterious(0.02) deleterious(0.754) HMMPfam_SNF DCLK3 85443 genome.wustl.edu 37 3 36779044 36779044 + Silent SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_033403.1 -1 validated p.V369 0.926 202 0% 98 30.6% 0 - - - - HMMSmart_S_TKc,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase SCN5A 6331 genome.wustl.edu 37 3 38592637 38592637 + Silent SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001099404.1 -1 reviewed p.C1742 0.256 144 0% 111 23.4% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CSRNP1 64651 genome.wustl.edu 37 3 39186724 39186724 + Missense_Mutation SNP G G T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_033027.3 -1 reviewed p.R77S 0.029 62 0% 29 27.6% 3 0% benign(0.017) deleterious(0.02) neutral(0.384) NULL RPL14 9045 genome.wustl.edu 37 3 40503520 40503521 + In_Frame_Ins INS - - CTG rs61749576 byFrequency TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001034996.1 +1 reviewed p.153in_frame_insA 0.019:0.022 - - - - - - - - - NULL ZNF852 285346 genome.wustl.edu 37 3 44542052 44542052 + Missense_Mutation SNP T T C novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 ENST00000436261 -1 known p.T73A 0.000 122 0% 63 28.6% 0 - benign(0.026) tolerated(0.77) neutral(0.002) NULL CDCP1 64866 genome.wustl.edu 37 3 45127302 45127302 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_022842.3 -1 reviewed p.C780Y 0.053 261 0% 114 30.7% 0 - benign(0) tolerated(1) - NULL KIAA1407 57577 genome.wustl.edu 37 3 113697826 113697826 + Missense_Mutation SNP T T C novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_020817.1 -1 predicted p.Q780R 0.976 287 0% 77 20.8% 4 25% possibly_damaging(0.837) tolerated(0.65) neutral(0.323) NULL POLQ 10721 genome.wustl.edu 37 3 121208592 121208592 + Silent SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_199420.3 -1 validated p.A1062 0.000 91 0% 40 25% 0 - - - - NULL PARP9 83666 genome.wustl.edu 37 3 122255810 122255810 + Missense_Mutation SNP A A G novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_031458.2 -1 validated p.F661L 0.978 676 0% 429 24.5% 8 25% benign(0.119) deleterious(0) neutral(0.454) HMMPfam_PARP,superfamily_ADP-ribosylation PDIA5 10954 genome.wustl.edu 37 3 122808042 122808042 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 ENST00000316218 +1 known p.A24T 0.000 222 0% 102 28.4% 4 75% benign(0) tolerated(1) - NULL HEG1 57493 genome.wustl.edu 37 3 124732422 124732422 + Silent SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_020733.1 -1 validated p.S667 0.035 321 0% 156 28.8% 1 0% - - - NULL SLC41A3 54946 genome.wustl.edu 37 3 125727586 125727586 + Missense_Mutation SNP C C A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001008485.1 -1 validated p.G415C 0.816 68 0% 33 24.2% 49 38.7% probably_damaging(0.992) tolerated(0.1) deleterious(0.734) NULL PLXNA1 5361 genome.wustl.edu 37 3 126751579 126751579 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_032242.3 +1 validated p.S1809N 0.999 81 0% 27 18.5% 6 66.6% benign(0.002) tolerated(1) - superfamily_GTPase activation domain GAP,HMMPfam_Plexin_cytopl PLOD2 5352 genome.wustl.edu 37 3 145789197 145789197 + Missense_Mutation SNP G G T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_182943.2 -1 reviewed p.S621Y 1.000 319 0.3% 54 24.1% 8 50% possibly_damaging(0.822) deleterious(0.03) deleterious(0.675) HMMSmart_P4Hc ZIC4 84107 genome.wustl.edu 37 3 147113878 147113878 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 ENST00000383075 -1 known p.T150I 1.000 69 0% 38 26.3% 0 - possibly_damaging(0.484) deleterious(0) deleterious(0.605) HMMSmart_SM00355 SLC2A2 6514 genome.wustl.edu 37 3 170723086 170723086 + Silent SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_000340.1 -1 reviewed p.S317 0.992 441 0% 87 25.3% 0 - - - - HMMPfam_Sugar_tr,superfamily_MFS_gen_substrate_transporter FNDC3B 64778 genome.wustl.edu 37 3 172060828 172060828 + Missense_Mutation SNP C C G novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001135095.1 +1 validated p.L667V 1.000 324 0% 94 24.5% 3 0% possibly_damaging(0.598) tolerated(0.15) neutral(0.448) superfamily_Fibronectin type III KNG1 3827 genome.wustl.edu 37 3 186459974 186459974 + Missense_Mutation SNP G G T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001102416.2 +1 reviewed p.G597C 0.059 235 0% 107 21.5% 0 - possibly_damaging(0.896) tolerated(0.09) deleterious(0.650) NULL PIGZ 80235 genome.wustl.edu 37 3 196674649 196674651 + In_Frame_Del DEL GAG GAG - novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_025163.2 -1 reviewed p.L373in_frame_del 0.998:0.998:0.910 - - - - - - - - - HMMPfam_Glyco_transf_22 TBC1D14 57533 genome.wustl.edu 37 4 6998131 6998131 + Nonsense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001113361.1 +1 validated p.R348* 0.994 308 0% 242 22.3% 0 - - - - NULL LDB2 9079 genome.wustl.edu 37 4 16504335 16504335 + Frame_Shift_Del DEL C C - novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001290.3 -1 validated p.W352fs 0.309 - - - - - - - - - HMMPfam_LIM_bind GPR125 166647 genome.wustl.edu 37 4 22389603 22389604 + Frame_Shift_Ins INS - - TC novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_145290.2 -1 validated p.Q1230fs 1.000:0.297 - - - - - - - - - NULL LIMCH1 22998 genome.wustl.edu 37 4 41648508 41648509 + Frame_Shift_Del DEL GA GA - novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_014988.2 +1 validated p.E425fs 0.997:1.000 - - - - - - - - - NULL SLAIN2 57606 genome.wustl.edu 37 4 48385788 48385788 + Silent SNP T T C novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 ENST00000510595 +1 known p.S32P 1.000 186 0% 75 21.3% 20 55% - - - NULL SHROOM3 57619 genome.wustl.edu 37 4 77691968 77691968 + Silent SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_020859.3 +1 validated p.L1847 1.000 236 0% 65 27.7% 14 28.5% - - - HMMPfam_ASD2 COPS4 51138 genome.wustl.edu 37 4 83970343 83970343 + Missense_Mutation SNP T T C novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_016129.2 +1 reviewed p.V60A 1.000 169 0% 111 32.4% 4 25% possibly_damaging(0.618) deleterious(0.03) deleterious(0.580) NULL FAM13A 10144 genome.wustl.edu 37 4 89670118 89670118 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_014883.2 -1 validated p.R716W 1.000 396 0% 138 17.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TET2 54790 genome.wustl.edu 37 4 106157645 106157645 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001127208.1 +1 validated p.T849I 0.000 125 0% 54 27.8% 1 0% benign(0) tolerated(0.46) neutral(0.012) NULL TET2 54790 genome.wustl.edu 37 4 106162494 106162494 + Splice_Site SNP A A C novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001127208.1 +1 validated e2-2 1.000 233 0% 131 19.8% 0 - - - - - AIMP1 9255 genome.wustl.edu 37 4 107252949 107252949 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001142416.1 +1 reviewed p.A195V 1.000 320 0% 133 34.6% 48 33.3% probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_tRNA_bind,superfamily_Nucleic acid-binding proteins SEC24B 10427 genome.wustl.edu 37 4 110437683 110437683 + Splice_Site SNP G G T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_006323.2 +1 reviewed e11-1 1.000 436 0% 314 26.1% 0 - - - - - ANKRD50 57182 genome.wustl.edu 37 4 125590920 125590920 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_020337.2 -1 validated p.T1171I 0.998 125 0% 54 33.3% 3 0% probably_damaging(0.999) tolerated(0.12) deleterious(0.751) NULL ASIC5 51802 genome.wustl.edu 37 4 156775377 156775377 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_017419.2 -1 reviewed p.A146V 0.000 303 0% 62 27.4% 0 - benign(0) tolerated(0.21) neutral(0.044) HMMPfam_ASC IRX2 153572 genome.wustl.edu 37 5 2749779 2749779 + Silent SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001134222.1 -1 validated p.D124 1.000 228 0.4% 132 26.5% 2 0% - - - HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like TRIO 7204 genome.wustl.edu 37 5 14359615 14359615 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_007118.2 +1 validated p.R789H 1.000 64 0% 39 28.2% 0 - unknown(0) deleterious(0.01) - NULL HTR1A 3350 genome.wustl.edu 37 5 63257091 63257091 + Silent SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_000524.2 -1 validated p.R152 0.977 101 0% 32 18.8% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PIK3R1 5295 genome.wustl.edu 37 5 67591153 67591153 + Splice_Site DEL G G - novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_181523.1 +1 reviewed e12+1 1.000 - - - - - - - - - - PIK3R1 5295 genome.wustl.edu 37 5 67592081 67592082 + Frame_Shift_Del DEL AA AA - novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 AA AA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_181523.1 +1 reviewed p.K633fs 1.000:1.000 - - - - - - - - - HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain TMEM171 134285 genome.wustl.edu 37 5 72419394 72419394 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_173490.6 +1 validated p.A65V 0.000 201 0% 100 28% 0 - benign(0.06) deleterious(0.03) neutral(0.368) NULL THBS4 7060 genome.wustl.edu 37 5 79375825 79375825 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_003248.4 +1 reviewed p.S870F 1.000 216 0% 92 28.3% 4 0% possibly_damaging(0.791) deleterious(0) deleterious(0.741) HMMPfam_TSP_C,superfamily_ConA_like_lec_gl VCAN 1462 genome.wustl.edu 37 5 82833391 82833392 + Frame_Shift_Del DEL AG AG - rs16900528 byCluster;byFrequency;by1000genomes TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_004385.4 +1 reviewed p.D1526fs 0.000:0.002 - - - - - - - - - NULL GDF9 2661 genome.wustl.edu 37 5 132197524 132197524 + Silent SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_005260.3 -1 reviewed p.P374 0.034 101 0% 46 26.1% 0 - - - - HMMPfam_TGF_beta,HMMSmart_TGFB,PatternScan_TGF_BETA_1,superfamily_SSF57501 IK 3550 genome.wustl.edu 37 5 140032593 140032594 + Frame_Shift_Del DEL GA GA - novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_006083.3 +1 reviewed p.R93fs 1.000:1.000 - - - - - - - - - HMMPfam_RED_N PCDHA8 56140 genome.wustl.edu 37 5 140222720 140222720 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_018911.2 +1 reviewed p.A605V 1.000 73 0% 45 24.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA9 9752 genome.wustl.edu 37 5 140228843 140228843 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_031857.1 +1 reviewed p.V255I 0.000 194 0% 161 19.9% 0 - benign(0.321) tolerated(0.08) neutral(0.400) HMMPfam_Cadherin,superfamily_Cadherin-like PCDHB6 56130 genome.wustl.edu 37 5 140531269 140531269 + Silent SNP C C T rs34727235 TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_018939.2 +1 reviewed p.D477 0.993 86 0% 91 27.5% 0 - - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB8 56128 genome.wustl.edu 37 5 140558007 140558007 + Missense_Mutation SNP C C A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_019120.2 +1 reviewed p.S131Y 0.582 154 0% 110 20% 0 - possibly_damaging(0.761) deleterious(0.03) deleterious(0.646) HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin PCDHGB4 8641 genome.wustl.edu 37 5 140767695 140767695 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_003736.2 +1 reviewed p.G82R 1.000 282 0% 157 16.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDHGB5 56101 genome.wustl.edu 37 5 140779638 140779638 + Silent SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_018925.2 +1 reviewed p.P648 0.976 114 0% 62 25.8% 1 0% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like NR3C1 2908 genome.wustl.edu 37 5 142780187 142780187 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001024094.1 -1 reviewed p.A73V 0.158 154 0% 77 24.7% 0 - benign(0.004) tolerated(0.78) neutral(0.001) HMMPfam_GCR DRD1 1812 genome.wustl.edu 37 5 174869336 174869336 + Missense_Mutation SNP G G A rs182894202 by1000genomes TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_000794.3 -1 reviewed p.P256L 0.811 217 0% 154 24.7% 0 - benign(0.001) tolerated(0.37) neutral(0.019) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ARL10 285598 genome.wustl.edu 37 5 175798760 175798760 + Silent SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_173664.4 +1 validated p.Q199 1.000 165 0% 89 36% 0 - - - - HMMPfam_Arf,superfamily_SSF52540 F12 2161 genome.wustl.edu 37 5 176832986 176832987 + Frame_Shift_Ins INS - - T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_000505.3 -1 reviewed p.R66fs 0.000:0.000 - - - - - - - - - HMMPfam_fn2,HMMSmart_SM00059,PatternScan_FN2_1,superfamily_Kringle-like GRM6 2916 genome.wustl.edu 37 5 178413379 178413379 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_000843.3 -1 reviewed p.V626I 1.000 65 0% 36 36.1% 0 - benign(0.018) tolerated(1) neutral(0.001) HMMPfam_7tm_3 FLT4 2324 genome.wustl.edu 37 5 180051062 180051062 + Splice_Site SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_182925.4 -1 reviewed e11-1 1.000 107 0% 36 27.8% 0 - - - - - HIVEP1 3096 genome.wustl.edu 37 6 12164223 12164223 + Silent SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_002114.2 +1 validated p.A2562 0.346 285 0% 156 20.5% 10 0% - - - NULL HIST1H3I 8354 genome.wustl.edu 37 6 27839723 27839723 + Missense_Mutation SNP T T C novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_003533.2 -1 reviewed p.D124G 1.000 227 0% 99 28.3% 0 - benign(0) - - HMMSmart_SM00428,HMMPfam_Histone,superfamily_Histone-fold MICB 4277 genome.wustl.edu 37 6 31477680 31477680 + Silent SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_005931.3 +1 reviewed p.G382 0.000 168 0% 79 32.9% 0 - - - - NULL BAG6 7917 genome.wustl.edu 37 6 31610655 31610655 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_004639.3 -1 reviewed p.A635V 1.000 81 0% 33 33.3% 15 20% possibly_damaging(0.606) tolerated(0.07) deleterious(0.529) NULL PRICKLE4 29964 genome.wustl.edu 37 6 41751963 41751963 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_013397.5 +1 validated p.P76L 0.992 311 0% 159 18.9% 3 0% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_PET SLC35B2 347734 genome.wustl.edu 37 6 44222739 44222740 + Frame_Shift_Del DEL TG TG - novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_178148.2 -1 validated p.H334fs 0.989:0.998 - - - - - - - - - HMMPfam_UAA,superfamily_Multidrug resistance efflux transporter EmrE KLHL31 401265 genome.wustl.edu 37 6 53519578 53519578 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001003760.4 -1 validated p.R165W 1.000 262 0% 171 29.2% 0 - probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB HMGCLL1 54511 genome.wustl.edu 37 6 55360225 55360225 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_019036.2 -1 validated p.A293T 1.000 207 0% 98 27.6% 1 0% benign(0.334) deleterious(0.01) deleterious(0.511) HMMPfam_HMGL-like,superfamily_Aldolase COL19A1 1310 genome.wustl.edu 37 6 70639325 70639325 + Missense_Mutation SNP A A G novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001858.4 +1 reviewed p.I133M 0.000 264 0% 87 28.7% 0 - unknown(0) deleterious(0.01) - HMMSmart_TSPN,superfamily_ConA_like_lec_gl C6orf221 154288 genome.wustl.edu 37 6 74073392 74073392 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001017361.2 +1 validated p.G155R 0.000 95 0% 50 24% 0 - probably_damaging(0.983) deleterious(0.01) deleterious(0.835) NULL COL12A1 1303 genome.wustl.edu 37 6 75814964 75814964 + Silent SNP A A G novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_004370.5 -1 reviewed p.C2741 0.971 176 0% 60 28.3% 22 68.1% - - - NULL SENP6 26054 genome.wustl.edu 37 6 76405553 76405553 + Silent SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 ENST00000503501 +1 known p.T319M 0.963 122 0% 87 25.3% 9 11.1% - - - HMMPfam_Peptidase_C48,superfamily_Cysteine proteinases MYO6 4646 genome.wustl.edu 37 6 76566844 76566844 + Silent SNP T T C novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_004999.3 +1 reviewed p.N418 0.996 371 0% 199 38.2% 0 - - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases LOC100288198 100288198 genome.wustl.edu 37 6 79944366 79944366 + Missense_Mutation SNP T T C novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 XM_002342644.1 +1 model p.S30P 0.993 87 0% 67 31.3% 18 44.4% - - - NULL LOC728666 728666 genome.wustl.edu 37 6 126965095 126965095 + RNA SNP C C T rs183625044 by1000genomes TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 XR_015645.3 +1 model NULL 0.997 260 0% 168 25% 34 0% - - - - TMEM200A 114801 genome.wustl.edu 37 6 130761908 130761908 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_052913.2 +1 provisional p.R114H 0.989 186 0% 90 23.3% 1 0% benign(0.001) tolerated(0.06) neutral(0.323) HMMPfam_DUF2371 LOC285735 285735 genome.wustl.edu 37 6 133427286 133427286 + RNA SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NR_026969.1 +1 predicted NULL 0.000 268 0% 56 16.1% 0 - - - - - HBS1L 10767 genome.wustl.edu 37 6 135358037 135358037 + Silent SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001145207.1 -1 reviewed p.L520 0.616 188 0% 114 39.5% 1 100% - - - NULL UTRN 7402 genome.wustl.edu 37 6 144837409 144837409 + Silent SNP T T C novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_007124.2 +1 reviewed p.T1763 0.000 168 0% 86 29.1% 0 - - - - NULL SASH1 23328 genome.wustl.edu 37 6 148865684 148865684 + Silent SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_015278.3 +1 validated p.P1026 0.000 20 0% 18 27.8% 0 - - - - NULL C6orf72 116254 genome.wustl.edu 37 6 149911935 149911935 + Missense_Mutation SNP G G T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_138785.3 +1 predicted p.E318D 0.998 267 0% 202 27.7% 57 43.8% benign(0.395) deleterious(0) deleterious(0.572) NULL C6orf97 80129 genome.wustl.edu 37 6 151917592 151917592 + Silent SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_025059.3 +1 validated p.N530 0.998 119 0% 34 35.3% 1 0% - - - superfamily_Prefoldin ESR1 2099 genome.wustl.edu 37 6 152382210 152382210 + Silent SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 ENST00000427531 +1 known p.C345Y 0.987 353 0% 121 24.8% 7 14.2% - - - HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain SYNE1 23345 genome.wustl.edu 37 6 152577888 152577888 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_182961.2 -1 reviewed p.P6329S 1.000 171 0% 71 26.8% 1 0% benign(0.003) tolerated(0.51) neutral(0.009) superfamily_Spectrin repeat HEATR2 54919 genome.wustl.edu 37 7 780511 780511 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_017802.3 +1 validated p.R279H 1.000 180 0% 92 20.7% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat PAPOLB 56903 genome.wustl.edu 37 7 4901279 4901279 + Nonsense_Mutation SNP C C A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_020144.4 -1 validated p.E55* 1.000 116 0.9% 91 29.7% 0 - - - - HMMPfam_PAP_central,superfamily_SSF81301 ZNF853 54753 genome.wustl.edu 37 7 6661327 6661327 + Silent SNP A A G novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_017560.1 +1 provisional p.L235 0.022 166 0% 127 29.1% 2 100% - - - NULL ICA1 3382 genome.wustl.edu 37 7 8196732 8196732 + Missense_Mutation SNP T T C novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 ENST00000407906 -1 known p.E273G 0.010 272 0% 115 20% 0 - benign(0.15) deleterious(0.03) neutral(0.378) NULL NXPH1 30010 genome.wustl.edu 37 7 8791278 8791278 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_152745.2 +1 reviewed p.S232F 1.000 119 0% 41 29.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Neurexophilin SCRN1 9805 genome.wustl.edu 37 7 30008541 30008541 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001145514.1 -1 reviewed p.P68L 0.037 268 0% 97 22.7% 1 0% benign(0.002) tolerated(0.27) neutral(0.034) NULL IKZF1 10320 genome.wustl.edu 37 7 50467717 50467717 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 ENST00000331340 +1 known p.A318T 1.000 15 0% 12 50% 0 - benign(0.038) deleterious(0.01) neutral(0.408) NULL PCLO 27445 genome.wustl.edu 37 7 82453604 82453605 + Frame_Shift_Ins INS - - T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_033026.5 -1 validated p.P4849fs 1.000:1.000 - - - - - - - - - NULL SEMA3A 10371 genome.wustl.edu 37 7 83640536 83640536 + Silent SNP T T C novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_006080.2 -1 reviewed p.P296 0.728 348 0% 171 35.7% 0 - - - - HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema STEAP4 79689 genome.wustl.edu 37 7 87912429 87912429 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_024636.2 -1 validated p.R171C 0.688 298 0% 98 20.4% 0 - benign(0.083) deleterious(0) neutral(0.451) HMMPfam_F420_oxidored,superfamily_NAD(P)-binding Rossmann-fold domains AKAP9 10142 genome.wustl.edu 37 7 91700277 91700277 + Missense_Mutation SNP T T C novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_005751.4 +1 reviewed p.V2189A 1.000 170 0.6% 119 33.6% 1 0% benign(0.02) tolerated(0.84) neutral(0.002) NULL COL1A2 1278 genome.wustl.edu 37 7 94058603 94058603 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_000089.3 +1 reviewed p.C1272Y 1.000 280 0% 100 28% 1407 16.4% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_COLFI,HMMSmart_SM00038 ASB4 51666 genome.wustl.edu 37 7 95166903 95166904 + Frame_Shift_Del DEL CT CT - novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_016116.1 +1 reviewed p.F374fs 0.999:1.000 - - - - - - - - - NULL SPDYE3 441272 genome.wustl.edu 37 7 99917598 99917598 + Silent SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001004351.4 +1 validated p.R168 0.016 144 0% 64 51.6% 8 12.5% - - - NULL PRKRIP1 79706 genome.wustl.edu 37 7 102045101 102045101 + Missense_Mutation SNP G G T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_024653.3 +1 validated p.E121D 0.999 90 0% 51 19.6% 14 28.5% unknown(0) tolerated(0.06) - HMMPfam_DUF1168 ST7 7982 genome.wustl.edu 37 7 116776208 116776208 + Nonsense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_021908.2 +1 reviewed p.Q262* 1.000 196 0% 48 20.8% 3 0% - - - HMMPfam_ST7 FLNC 2318 genome.wustl.edu 37 7 128493849 128493849 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001458.4 +1 reviewed p.A2148T 1.000 62 0% 25 28% 1 0% possibly_damaging(0.928) deleterious(0.02) deleterious(0.758) NULL TTC26 79989 genome.wustl.edu 37 7 138864318 138864318 + Splice_Site SNP A A G novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_024926.2 +1 validated e15-2 0.998 713 0% 385 24.9% 0 - - - - - ARHGEF5 7984 genome.wustl.edu 37 7 144061061 144061061 + Silent SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_005435.3 +1 reviewed p.P433 0.000 129 0% 85 25.9% 0 - - - - NULL MLL3 58508 genome.wustl.edu 37 7 151921110 151921110 + Nonsense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_170606.2 -1 reviewed p.Q1105* 1.000 263 0% 102 18.6% 2 0% - - - HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger,HMMPfam_PHD XKR6 286046 genome.wustl.edu 37 8 10755749 10755749 + Missense_Mutation SNP C C T rs150757726 by1000genomes TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_173683.3 -1 provisional p.V547I 1.000 36 0% 21 33.3% 0 - benign(0.014) tolerated(0.29) neutral(0.030) NULL SLC35G5 83650 genome.wustl.edu 37 8 11188883 11188883 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_054028.1 +1 reviewed p.R90C 0.827 434 0% 193 28% 0 - benign(0) tolerated(0.06) neutral(0.323) HMMPfam_DUF6,superfamily_SSF103481 NEIL2 252969 genome.wustl.edu 37 8 11628987 11628987 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001135746.1 +1 validated p.H11Y 1.000 351 0% 107 25.2% 3 0% probably_damaging(0.963) tolerated(0.11) deleterious(0.677) HMMPfam_Fapy_DNA_glyco C8orf80 389643 genome.wustl.edu 37 8 27913553 27913553 + Nonsense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001010906.1 -1 provisional p.R379* 1.000 381 0.3% 194 26.3% 0 - - - - NULL ZNF395 55893 genome.wustl.edu 37 8 28209226 28209228 + In_Frame_Del DEL GCA GCA - novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 GCA GCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_018660.2 -1 validated p.A341in_frame_del 0.082:0.295:0.411 - - - - - - - - - NULL KIF13B 23303 genome.wustl.edu 37 8 28929186 28929186 + Silent SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_015254.3 -1 validated p.A1723 0.011 24 0% 13 30.8% 2 0% - - - HMMPfam_CAP_GLY,PatternScan_CAP_GLY_1,superfamily_Cap-Gly domain ANK1 286 genome.wustl.edu 37 8 41526001 41526001 + Silent SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001142446.1 -1 reviewed p.T1767 0.000 161 0% 88 30.7% 0 - - - - NULL KAT6A 7994 genome.wustl.edu 37 8 41839358 41839358 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001099412.1 -1 validated p.A275V 1.000 188 0% 43 25.6% 1 0% unknown(0) deleterious(0) - HMMSmart_RING,HMMSmart_PHD,superfamily_FYVE_PHD_ZnF,PatternScan_ZF_PHD_1,HMMPfam_PHD CHRNB3 1142 genome.wustl.edu 37 8 42587098 42587098 + Silent SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_000749.3 +1 validated p.G216 0.000 96 0% 75 20% 0 - - - - HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like PRKDC 5591 genome.wustl.edu 37 8 48855904 48855904 + Silent SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 ENST00000314191 -1 known p.L277 0.873 160 0% 133 24.8% 1 0% - - - superfamily_ARM repeat ST18 9705 genome.wustl.edu 37 8 53045804 53045804 + Silent SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_014682.2 -1 validated p.H786 1.000 207 0% 73 21.9% 0 - - - - HMMPfam_zf-C2HC,superfamily_SSF103637 JPH1 56704 genome.wustl.edu 37 8 75227412 75227412 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_020647.2 -1 reviewed p.A275T 1.000 233 0% 114 22.8% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL ZFHX4 79776 genome.wustl.edu 37 8 77764113 77764113 + Silent SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_024721.4 +1 validated p.S1607 0.996 141 0% 84 28.6% 0 - - - - NULL MRPS28 28957 genome.wustl.edu 37 8 80831266 80831266 + Silent SNP T T A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_014018.2 -1 reviewed p.G171 0.995 468 0% 168 31% 49 51% - - - HMMPfam_MRP-S35 TMEM67 91147 genome.wustl.edu 37 8 94792911 94792911 + Nonsense_Mutation SNP G G T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_153704.5 +1 reviewed p.G269* 0.990 525 0% 262 31.3% 0 - - - - HMMPfam_Meckelin RNF19A 25897 genome.wustl.edu 37 8 101299857 101299857 + Silent SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_015435.3 -1 reviewed p.R182 0.983 248 0% 141 22.7% 2 0% - - - superfamily_RING/U-box SLC25A32 81034 genome.wustl.edu 37 8 104412761 104412761 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_030780.3 -1 validated p.G276S 0.679 279 0% 117 24.8% 3 33.3% benign(0) tolerated(0.9) - superfamily_Mitoch_carrier,HMMPfam_Mito_carr MTBP 27085 genome.wustl.edu 37 8 121457794 121457826 + In_Frame_Del DEL GGTGTCGTCGGGTGAGGGTACTGAGAATCAGCC GGTGTCGTCGGGTGAGGGTACTGAGAATCAGCC - novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 GGTGTCGTCGGGTGAGGGTACTGAGAATCAGCC GGTGTCGTCGGGTGAGGGTACTGAGAATCAGCC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_022045.3 +1 provisional p.VSSGEGTENQP29in_frame_del 0.000:0.000:0.000:0.000:0.001:0.004:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.040:0.040:0.037:0.043:0.068:0.001:0.000:0.000:0.002:0.009:0.010:0.003:0.006:0.004:0.001:0.017:0.022:0.510:0.673:0.665 - - - - - - - - - NULL TAF1L 138474 genome.wustl.edu 37 9 32631849 32631849 + Silent SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_153809.2 -1 provisional p.R1243 0.999 495 0% 207 25.1% 0 - - - - NULL GALT 2592 genome.wustl.edu 37 9 34650407 34650407 + Silent SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_000155.2 +1 reviewed p.H367 0.492 205 0% 94 13.8% 12 0% - - - HMMPfam_GalP_UDP_tr_C,superfamily_HIT-like KLF9 687 genome.wustl.edu 37 9 73028002 73028002 + Missense_Mutation SNP A A G novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001206.2 -1 reviewed p.M93T 0.997 122 0% 48 33.3% 5 0% benign(0.002) tolerated(0.74) neutral(0.002) NULL C9orf79 286234 genome.wustl.edu 37 9 90502147 90502147 + Silent SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_178828.4 +1 validated p.T915 0.000 75 0% 38 21.1% 0 - - - - NULL CTSL2 1515 genome.wustl.edu 37 9 99797041 99797041 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001333.2 -1 reviewed p.S291L 0.001 452 0% 285 29.5% 167 47.9% probably_damaging(0.954) tolerated(0.34) neutral(0.421) HMMPfam_Peptidase_C1,HMMSmart_Pept_C1,superfamily_SSF54001 GTF3C5 9328 genome.wustl.edu 37 9 135919158 135919158 + Silent SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001122823.1 +1 validated p.G139 0.001 108 0.9% 40 42.5% 16 37.5% - - - HMMPfam_Tau95 COL5A1 1289 genome.wustl.edu 37 9 137593017 137593017 + Silent SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_000093.3 +1 reviewed p.K164 1.000 178 0% 105 30.5% 0 - - - - HMMSmart_LamG,HMMSmart_TSPN,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 C9orf69 90120 genome.wustl.edu 37 9 139008666 139008666 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_152833.2 -1 validated p.P52L 0.000 29 0.000 8 0.500 3 33.3% - - - NULL C9orf86 55684 genome.wustl.edu 37 9 139733725 139733725 + Silent SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_024718.4 +1 validated p.T515 0.000 58 0% 25 36% 39 20.5% - - - NULL LARP4B 23185 genome.wustl.edu 37 10 871078 871078 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_015155.1 -1 provisional p.A471T 0.918 252 0% 151 26.5% 1 0% benign(0) tolerated(0.63) neutral(0.004) NULL MYO3A 53904 genome.wustl.edu 37 10 26436439 26436439 + Silent SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_017433.4 +1 reviewed p.S862 0.433 373 0% 90 25.6% 1 0% - - - HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 FAM21C 253725 genome.wustl.edu 37 10 46235668 46235668 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_015262.2 +1 validated p.R168W 0.998 436 0% 250 12.8% 1 0% probably_damaging(0.953) deleterious(0.01) deleterious(0.802) NULL IPMK 253430 genome.wustl.edu 37 10 60027273 60027273 + Silent SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_152230.3 -1 provisional p.P33 0.971 23 0% 10 40% 0 - - - - NULL ARID5B 84159 genome.wustl.edu 37 10 63851484 63851484 + Frame_Shift_Del DEL C C - novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_032199.2 +1 validated p.H754fs 0.953 - - - - - - - - - NULL ZNF365 22891 genome.wustl.edu 37 10 64136551 64136551 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_199451.2 +1 reviewed p.A200V 0.997 82 0% 49 30.6% 0 - probably_damaging(0.999) tolerated(0.06) deleterious(0.813) NULL PPA1 5464 genome.wustl.edu 37 10 71973297 71973297 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_021129.3 -1 reviewed p.A145T 1.000 310 0% 138 26.8% 190 37.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Pyrophosphatase,superfamily_Pyrophosphatase USP54 159195 genome.wustl.edu 37 10 75276158 75276158 + Silent SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_152586.3 -1 provisional p.T1342 0.000 177 0% 60 36.7% 1 0% - - - NULL ENSG00000250779 0 genome.wustl.edu 37 10 75871654 75871654 + RNA SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 ENST00000506015 -1 novel NULL 1.000 130 0% 35 20% 0 - - - - - PTEN 5728 genome.wustl.edu 37 10 89692791 89692791 + Missense_Mutation SNP A A G novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 ENST00000371953 +1 known p.D92G 1.000 453 0% 188 25.5% 17 52.9% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II PTEN 5728 genome.wustl.edu 37 10 89692964 89692964 + Nonsense_Mutation SNP G G T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 ENST00000371953 +1 known p.E150* 1.000 251 0% 119 30.3% 11 9% - - - HMMPfam_DSPc,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II ARHGAP19 84986 genome.wustl.edu 37 10 98994992 98994992 + Silent SNP G G T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_032900.4 -1 validated p.S422 1.000 242 0% 93 26.9% 1 0% - - - NULL BTRC 8945 genome.wustl.edu 37 10 103281473 103281473 + Missense_Mutation SNP G G T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_033637.2 +1 reviewed p.K134N 1.000 309 0% 201 20.4% 1 100% possibly_damaging(0.49) deleterious(0.01) deleterious(0.569) NULL ACTR1A 10121 genome.wustl.edu 37 10 104241858 104241858 + Silent SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_005736.3 -1 reviewed p.I275 1.000 191 0% 104 21.2% 63 17.4% - - - HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain PNLIP 5406 genome.wustl.edu 37 10 118313312 118313312 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_000936.2 +1 reviewed p.A178V 0.996 105 0% 49 20.4% 0 - benign(0.258) tolerated(0.16) neutral(0.086) HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases TIAL1 7073 genome.wustl.edu 37 10 121347664 121347665 + Frame_Shift_Del DEL CT CT - novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001033925.1 -1 reviewed p.E43fs 1.000:1.000 - - - - - - - - - HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 FGFR2 2263 genome.wustl.edu 37 10 123258034 123258034 + Missense_Mutation SNP A A T rs121913476 TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_022970.3 -1 reviewed p.N550K 1.000 473 0% 247 26.7% 3 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like MKI67 4288 genome.wustl.edu 37 10 129910413 129910413 + Silent SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_002417.4 -1 reviewed p.S651 0.352 189 0% 95 23.2% 2 50% - - - NULL ZNF511 118472 genome.wustl.edu 37 10 135123755 135123755 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_145806.2 +1 provisional p.A173T 0.001 90 0% 48 20.8% 92 36.9% benign(0.01) tolerated(0.51) neutral(0.009) NULL PHRF1 57661 genome.wustl.edu 37 11 582050 582050 + Silent SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_020901.2 +1 validated p.A61 0.000 186 0% 109 24.8% 0 - - - - NULL MUC5B 727897 genome.wustl.edu 37 11 1261480 1261480 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_002458.1 +1 validated p.G1285D 0.997 78 0% 37 35.1% 4 50% probably_damaging(0.976) - - NULL TRPM5 29850 genome.wustl.edu 37 11 2434737 2434737 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_014555.3 -1 validated p.A658T 0.114 50 0% 17 35.3% 0 - benign(0.206) tolerated(0.08) neutral(0.320) NULL CYP2R1 120227 genome.wustl.edu 37 11 14901946 14901946 + Silent SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_024514.4 -1 reviewed p.L246 0.999 184 0% 58 31% 5 0% - - - HMMPfam_p450,superfamily_Cytochrome_P450 KCNC1 3746 genome.wustl.edu 37 11 17793324 17793324 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001112741.1 +1 reviewed p.R228H 0.988 325 0% 181 25.4% 0 - benign(0.222) tolerated(0.27) neutral(0.056) superfamily_Voltage-gated potassium channels HIPK3 10114 genome.wustl.edu 37 11 33360390 33360390 + Splice_Site SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_005734.3 +1 validated e4+1 1.000 225 0% 111 27.9% 0 - - - - - OR5D16 390144 genome.wustl.edu 37 11 55606711 55606711 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001005496.1 +1 provisional p.A162T 0.000 390 0% 104 32.7% 0 - benign(0) tolerated(1) - HMMPfam_7tm_1,superfamily_SSF81321 OR10AG1 282770 genome.wustl.edu 37 11 55735430 55735430 + Silent SNP A A G novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001005491.1 -1 provisional p.C170 1.000 214 0% 108 22.2% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR5AS1 219447 genome.wustl.edu 37 11 55798533 55798533 + Silent SNP A A G rs17528803 byCluster;byFrequency;by1000genomes TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001001921.1 +1 provisional p.V213 0.044 354 0% 107 23.4% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR8U1 219417 genome.wustl.edu 37 11 56143641 56143641 + Missense_Mutation SNP A A G novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001005204.1 +1 provisional p.D181G 0.367 399 0% 74 20.3% 1 0% probably_damaging(0.999) tolerated(0.38) deleterious(0.508) HMMPfam_7tm_1,superfamily_SSF81321 OR9G4 283189 genome.wustl.edu 37 11 56511062 56511062 + Missense_Mutation SNP A A C novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001005284.1 -1 provisional p.F76V 1.000 187 0% 105 29.5% 0 - possibly_damaging(0.946) deleterious(0.01) deleterious(0.796) HMMPfam_7tm_1,superfamily_SSF81321 CCDC88B 283234 genome.wustl.edu 37 11 64111912 64111913 + Frame_Shift_Ins INS - - T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_032251.5 +1 reviewed p.L633fs 0.054:0.000 - - - - - - - - - NULL PYGM 5837 genome.wustl.edu 37 11 64525931 64525931 + Silent SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_005609.2 -1 reviewed p.N134 0.978 123 0% 56 37.5% 0 - - - - HMMPfam_Phosphorylase,superfamily_SSF53756 SPTBN2 6712 genome.wustl.edu 37 11 66469057 66469057 + Silent SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_006946.2 -1 reviewed p.H938 1.000 320 0% 171 31% 1 100% - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat PC 5091 genome.wustl.edu 37 11 66617151 66617151 + Silent SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_000920.3 -1 reviewed p.T1026 0.999 142 0% 67 31.3% 6 33.3% - - - HMMPfam_PYC_OADA,superfamily_SSF89000 RPS6KB2 6199 genome.wustl.edu 37 11 67202510 67202510 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_003952.2 +1 reviewed p.P440L 0.034 85 0% 37 13.5% 71 39.4% unknown(0) deleterious(0.01) - NULL PTPRCAP 5790 genome.wustl.edu 37 11 67203361 67203361 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_005608.2 -1 reviewed p.T155M 0.000 45 0% 12 41.7% 210 2.8% possibly_damaging(0.812) deleterious(0.05) deleterious(0.651) NULL PPFIA1 8500 genome.wustl.edu 37 11 70118320 70118320 + Silent SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_003626.2 +1 reviewed p.G14 0.053 132 0% 59 22% 1 100% - - - NULL CTTN 2017 genome.wustl.edu 37 11 70281136 70281136 + Silent SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_005231.3 +1 reviewed p.G507 0.540 85 0% 34 32.4% 41 39% - - - HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SH3 RPS3 6188 genome.wustl.edu 37 11 75111796 75111796 + Missense_Mutation SNP C C A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001005.3 +1 reviewed p.A30D 1.000 328 0% 235 26.4% 1127 29.4% possibly_damaging(0.51) deleterious(0.01) deleterious(0.577) superfamily_Prokaryotic type KH domain (KH-domain type II) MMP3 4314 genome.wustl.edu 37 11 102713246 102713246 + Missense_Mutation SNP T T C novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_002422.3 -1 reviewed p.K139E 0.936 478 0% 172 29.1% 3 0% benign(0.002) tolerated(0.16) neutral(0.059) "HMMPfam_Peptidase_M10,HMMSmart_SM00235,superfamily_Metalloproteases (""zincins"") catalytic domain" C11orf92 399948 genome.wustl.edu 37 11 111167006 111167006 + Silent SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_207429.2 -1 validated p.S66 0.379 101 0% 61 18% 1 0% - - - NULL DSCAML1 57453 genome.wustl.edu 37 11 117391875 117391875 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_020693.2 -1 provisional p.A455T 0.999 72 0% 30 46.7% 0 - benign(0.002) tolerated(0.1) neutral(0.286) HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin MPZL3 196264 genome.wustl.edu 37 11 118110954 118110954 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_198275.1 -1 provisional p.R71H 0.991 326 0% 156 25% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin OR8B2 26595 genome.wustl.edu 37 11 124252706 124252706 + Silent SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001005468.1 -1 provisional p.L178 0.628 192 0% 76 31.6% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 PTPN6 5777 genome.wustl.edu 37 12 7066906 7066906 + Silent SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_080549.3 +1 reviewed p.T388 0.000 127 0% 63 30.2% 50 34% - - - HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II CLEC4E 26253 genome.wustl.edu 37 12 8688736 8688736 + Silent SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_014358.2 -1 reviewed p.V146 0.000 269 0% 146 30.1% 7 0% - - - HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like A2M 2 genome.wustl.edu 37 12 9246118 9246118 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_000014.4 -1 reviewed p.T728M 0.146 257 0% 154 28.6% 51 0% possibly_damaging(0.66) tolerated(0.11) deleterious(0.505) NULL LRP6 4040 genome.wustl.edu 37 12 12279775 12279775 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_002336.2 -1 reviewed p.G1388R 1.000 359 0% 125 20.8% 5 0% possibly_damaging(0.933) tolerated(0.19) neutral(0.428) NULL GUCY2C 2984 genome.wustl.edu 37 12 14769647 14769647 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_004963.3 -1 validated p.V964M 0.948 315 0% 64 18.8% 0 - benign(0.036) tolerated(0.12) neutral(0.263) HMMPfam_Guanylate_cyc,HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain GYS2 2998 genome.wustl.edu 37 12 21693461 21693461 + Silent SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_021957.3 -1 reviewed p.C564 1.000 271 0.4% 102 28.4% 0 - - - - HMMPfam_Glycogen_syn,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase PPFIBP1 8496 genome.wustl.edu 37 12 27844850 27844850 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_003622.2 +1 reviewed p.R952W 1.000 445 0% 223 23.8% 6 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL LOC100129218 100129218 genome.wustl.edu 37 12 52910510 52910510 + Nonsense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 XM_001718439.2 +1 model p.Q130* 0.433 158 0% 77 36.4% 6 66.6% - - - NULL LRP1 4035 genome.wustl.edu 37 12 57572741 57572741 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_002332.2 +1 reviewed p.R1559W 1.000 122 0.8% 56 30.4% 0 - probably_damaging(0.967) deleterious(0.03) deleterious(0.773) HMMSmart_SM00181,superfamily_EGF/Laminin LRP1 4035 genome.wustl.edu 37 12 57573308 57573308 + Silent SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_002332.2 +1 reviewed p.N1645 0.258 92 0% 39 28.2% 1 0% - - - HMMPfam_Ldl_recept_b,HMMSmart_SM00135,superfamily_YWTD domain LRIG3 121227 genome.wustl.edu 37 12 59280595 59280595 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_153377.3 -1 provisional p.R390Q 0.004 595 0.2% 218 20.6% 1 0% benign(0.007) tolerated(0.31) neutral(0.027) HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00365,superfamily_RNI-like DYRK2 8445 genome.wustl.edu 37 12 68052153 68052153 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_006482.2 +1 reviewed p.G489D 1.000 100 0% 41 26.8% 3 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SYT1 6857 genome.wustl.edu 37 12 79693187 79693187 + Silent SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001135805.1 +1 validated p.G222 1.000 317 0% 111 23.4% 0 - - - - HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) SCYL2 55681 genome.wustl.edu 37 12 100717365 100717365 + Silent SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_017988.4 +1 provisional p.N486 1.000 383 0% 387 26.6% 1 0% - - - superfamily_ARM repeat GIT2 9815 genome.wustl.edu 37 12 110399167 110399167 + Silent SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_057169.3 -1 reviewed p.T301 0.928 163 0% 59 35.6% 9 11.1% - - - NULL RBM19 9904 genome.wustl.edu 37 12 114358497 114358498 + Splice_Site INS - - GA novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_016196.3 -1 reviewed e19-2 0.977:0.777 - - - - - - - - - - SETD1B 23067 genome.wustl.edu 37 12 122265552 122265552 + Missense_Mutation SNP T T G novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_015048.1 +1 validated p.L1779R 1.000 43 0% 32 37.5% 2 0% unknown(0) - - HMMPfam_SET HPD 3242 genome.wustl.edu 37 12 122281717 122281718 + Frame_Shift_Del DEL CT CT - rs142252243 by1000genomes TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_002150.2 -1 reviewed p.G285fs 1.000:0.977 - - - - - - - - - HMMPfam_Glyoxalase,superfamily_Glyoxalase/Bleomycin resistance protein/Dihydroxybiphenyl dioxygenase DNAH10 196385 genome.wustl.edu 37 12 124330623 124330623 + Silent SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_207437.3 +1 validated p.Y1794 0.968 91 0% 42 28.6% 0 - - - - NULL DNAH10 196385 genome.wustl.edu 37 12 124358173 124358173 + Silent SNP T T C novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_207437.3 +1 validated p.N2500 0.833 198 0.5% 110 21.8% 0 - - - - HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases RIMBP2 23504 genome.wustl.edu 37 12 130926745 130926745 + Silent SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_015347.4 -1 validated p.S367 0.854 278 0% 117 27.4% 1 100% - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III CHFR 55743 genome.wustl.edu 37 12 133438075 133438075 + Silent SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_018223.2 -1 validated p.P214 0.007 526 0.2% 374 28.9% 5 40% - - - NULL ATP12A 479 genome.wustl.edu 37 13 25281431 25281431 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001676.5 +1 reviewed p.D785N 1.000 356 0% 183 10.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Calcium ATPase transmembrane domain M MTUS2 23281 genome.wustl.edu 37 13 29600848 29600848 + Silent SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001033602.2 +1 validated p.P681 0.000 104 0% 47 27.7% 0 - - - - NULL DCLK1 9201 genome.wustl.edu 37 13 36700167 36700167 + Missense_Mutation SNP G G T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_004734.3 -1 validated p.S36R 1.000 70 0% 30 26.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL PROSER1 80209 genome.wustl.edu 37 13 39586969 39586969 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_025138.3 -1 validated p.P807L 1.000 140 0% 87 27.6% 10 30% probably_damaging(1) tolerated(0.19) deleterious(0.549) NULL KIAA0564 23078 genome.wustl.edu 37 13 42245202 42245202 + Silent SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_015058.1 -1 validated p.S1497 0.048 270 0.7% 60 35% 6 50% - - - NULL NDFIP2 54602 genome.wustl.edu 37 13 80107522 80107522 + Silent SNP T T C novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 ENST00000465762 +1 known p.L100P 0.779 202 0% 77 23.4% 7 28.5% - - - HMMPfam_DUF2370 COL4A1 1282 genome.wustl.edu 37 13 110813624 110813624 + Missense_Mutation SNP A A C novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001845.4 -1 reviewed p.Y1519D 1.000 257 0% 126 21.4% 142 0% unknown(0) tolerated(0.08) - HMMPfam_C4,HMMSmart_SM00111,superfamily_C-type lectin-like CDH24 64403 genome.wustl.edu 37 14 23518467 23518467 + Silent SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_022478.3 -1 validated p.L577 1.000 60 0% 31 32.3% 4 50% - - - HMMPfam_Cadherin,superfamily_Cadherin-like MYH7 4625 genome.wustl.edu 37 14 23889188 23889188 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_000257.2 -1 reviewed p.D1198N 1.000 204 0% 86 16.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_tail_1,superfamily_Prefoldin FRMD6 122786 genome.wustl.edu 37 14 52174925 52174925 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001042481.1 +1 validated p.A222T 0.986 115 0% 29 41.4% 2 0% benign(0.001) tolerated(0.18) neutral(0.056) HMMPfam_FERM_M,HMMSmart_B41,superfamily_SSF50729 JKAMP 51528 genome.wustl.edu 37 14 59954419 59954419 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_016475.3 +1 validated p.A42T 0.979 410 0% 358 30.2% 6 83.3% benign(0) tolerated(0.33) neutral(0.024) HMMPfam_DUF766 MAP3K9 4293 genome.wustl.edu 37 14 71200020 71200020 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_033141.2 -1 validated p.R703H 0.386 119 0% 72 34.7% 0 - benign(0.003) tolerated(0.2) neutral(0.049) NULL FAM181A 90050 genome.wustl.edu 37 14 94394866 94394866 + Silent SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_138344.3 +1 predicted p.L141 0.004 36 0% 22 27.3% 3 100% - - - NULL NUDT14 256281 genome.wustl.edu 37 14 105643085 105643085 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_177533.3 -1 validated p.R72C 0.025 22 0% 18 38.9% 93 36.5% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_NUDIX,superfamily_NUDIX_hydrolase OCA2 4948 genome.wustl.edu 37 15 28000588 28000588 + Silent SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_000275.2 -1 reviewed p.C821 0.992 301 0% 160 28.1% 0 - - - - NULL SPTBN5 51332 genome.wustl.edu 37 15 42166107 42166107 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_016642.2 -1 validated p.A1574V 0.718 91 0% 23 17.4% 0 - benign(0.011) tolerated(0.28) neutral(0.032) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat TGM5 9333 genome.wustl.edu 37 15 43545072 43545072 + Silent SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_201631.3 -1 reviewed p.G249 0.000 108 0% 40 35% 0 - - - - superfamily_Cysteine proteinases B2M 567 genome.wustl.edu 37 15 45007692 45007692 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_004048.2 +1 reviewed p.V47M 0.984 421 0% 222 28.8% 3870 4.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_C1-set,HMMSmart_SM00407,superfamily_Immunoglobulin TNFAIP8L3 388121 genome.wustl.edu 37 15 51350428 51350428 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_207381.2 -1 provisional p.G177R 1.000 640 0% 330 27.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF758 MNS1 55329 genome.wustl.edu 37 15 56726358 56726358 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_018365.2 -1 reviewed p.R416H 0.397 441 0.9% 182 27.5% 0 - possibly_damaging(0.851) deleterious(0) deleterious(0.772) NULL HERC1 8925 genome.wustl.edu 37 15 64056332 64056332 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_003922.3 -1 reviewed p.C330Y 1.000 99 0% 60 25% 0 - probably_damaging(0.976) - - NULL SMAD3 4088 genome.wustl.edu 37 15 67477076 67477076 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_005902.3 +1 reviewed p.R295W 1.000 251 0.4% 79 29.1% 3 33.3% probably_damaging(0.98) deleterious(0) deleterious(0.869) HMMPfam_MH2,HMMSmart_SM00524,superfamily_SMAD/FHA domain MYO9A 4649 genome.wustl.edu 37 15 72190721 72190721 + Missense_Mutation SNP T T C novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_006901.2 -1 validated p.S1375G 0.065 251 0% 85 28.2% 0 - benign(0.002) tolerated(0.08) neutral(0.300) NULL LOC646791 646791 genome.wustl.edu 37 15 75614500 75614500 + RNA SNP G G T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 XR_017650.3 -1 model NULL 1.000 245 0% 284 26.8% 2 0% - - - - CSPG4 1464 genome.wustl.edu 37 15 75975328 75975328 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001897.4 -1 reviewed p.G1502S 0.037 27 0% 16 25% 1 0% benign(0) tolerated(0.73) neutral(0.002) NULL MEX3B 84206 genome.wustl.edu 37 15 82336181 82336181 + Missense_Mutation SNP C C G novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_032246.3 -1 provisional p.A344P 0.005 42 0% 22 22.7% 1 0% benign(0) deleterious(0.04) neutral(0.349) NULL FURIN 5045 genome.wustl.edu 37 15 91419771 91419771 + Missense_Mutation SNP C C A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_002569.2 +1 reviewed p.P119H 0.989 220 0% 91 18.7% 4 25% benign(0.321) deleterious(0.03) neutral(0.465) superfamily_Pept_S8_S53 FAM149B2 100113400 genome.wustl.edu 37 15 97301053 97301053 + Silent SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 ENST00000398303 +1 known p.S118 0.984 540 0% 370 23.2% 0 - - - - NULL ALDH1A3 220 genome.wustl.edu 37 15 101427779 101427779 + Silent SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_000693.2 +1 reviewed p.P69 0.863 83 0% 21 19% 1 0% - - - HMMPfam_Aldedh,superfamily_Aldehyde_DH/Histidinol_DH LRRK1 79705 genome.wustl.edu 37 15 101597169 101597169 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_024652.3 +1 validated p.R1481C 1.000 127 0% 62 30.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase NDUFB10 4716 genome.wustl.edu 37 16 2011238 2011240 + In_Frame_Del DEL AGG AGG - novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_004548.2 +1 validated p.E74in_frame_del 0.711:0.817:0.876 - - - - - - - - - HMMPfam_NDUFB10 CD19 930 genome.wustl.edu 37 16 28950036 28950036 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001770.5 +1 reviewed p.A509V 1.000 149 0% 58 27.6% 14 0% possibly_damaging(0.46) deleterious(0.01) deleterious(0.556) NULL DOC2A 8448 genome.wustl.edu 37 16 30018406 30018406 + Silent SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_003586.2 -1 reviewed p.A220 0.819 52 0% 17 23.5% 1 0% - - - superfamily_C2_CaLB ZNF785 146540 genome.wustl.edu 37 16 30594328 30594328 + Silent SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_152458.5 -1 provisional p.A257 0.000 116 0% 81 30.9% 1 100% - - - HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers HSD3B7 80270 genome.wustl.edu 37 16 30999412 30999412 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_025193.3 +1 reviewed p.R340C 0.973 51 0% 33 27.3% 6 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_NAD(P)-bd NOD2 64127 genome.wustl.edu 37 16 50744725 50744725 + Silent SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_022162.1 +1 reviewed p.A301 0.141 66 0% 43 30.2% 0 - - - - HMMPfam_NACHT,superfamily_P-loop containing nucleoside triphosphate hydrolases GPR97 222487 genome.wustl.edu 37 16 57719637 57719637 + Missense_Mutation SNP A A G novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_170776.4 +1 validated p.M447V 0.000 418 0% 170 30% 0 - benign(0) tolerated(1) - HMMPfam_7tm_2 CTCF 10664 genome.wustl.edu 37 16 67646012 67646013 + Frame_Shift_Ins INS - - AC novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_006565.2 +1 reviewed p.T318fs 1.000:1.000 - - - - - - - - - superfamily_C2H2 and C2HC zinc fingers CDH3 1001 genome.wustl.edu 37 16 68716324 68716324 + Silent SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001793.4 +1 reviewed p.D372 0.009 111 0% 39 33.3% 4 0% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like TMED6 146456 genome.wustl.edu 37 16 69377359 69377359 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_144676.3 -1 validated p.R225H 1.000 409 0% 247 31.6% 2 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_EMP24_GP25L ZFHX3 463 genome.wustl.edu 37 16 72821545 72821545 + Missense_Mutation SNP G G C novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_006885.3 -1 reviewed p.L3544V 1.000 106 0% 42 33.3% 5 60% unknown(0) - - HMMSmart_SM00451,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355 RFWD3 55159 genome.wustl.edu 37 16 74678509 74678509 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_018124.3 -1 validated p.R306H 1.000 252 0.4% 111 27.9% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_RING,HMMPfam_zf-C3HC4,superfamily_SSF57850 PKD1L2 114780 genome.wustl.edu 37 16 81157275 81157275 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_052892.3 -1 reviewed p.R2155H 0.124 121 0% 58 17.2% 0 - unknown(0) - - NULL PLCG2 5336 genome.wustl.edu 37 16 81902830 81902830 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_002661.2 +1 validated p.R164Q 1.000 239 0% 138 32.6% 0 - possibly_damaging(0.856) deleterious(0.01) deleterious(0.736) superfamily_SSF47473 PLCG2 5336 genome.wustl.edu 37 16 81925131 81925131 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_002661.2 +1 validated p.A308T 0.891 176 1.1% 86 29.1% 2 0% benign(0) tolerated(0.64) neutral(0.003) superfamily_SSF47473 ZNF469 84627 genome.wustl.edu 37 16 88501107 88501107 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001127464.1 +1 reviewed p.A2382V 0.013 38 0% 27 18.5% 0 - possibly_damaging(0.886) tolerated(0.24) neutral(0.384) NULL ZNF778 197320 genome.wustl.edu 37 16 89293540 89293540 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_182531.2 +1 validated p.V254I 0.463 108 0% 70 27.1% 0 - benign(0.039) deleterious(0.03) neutral(0.366) HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers GEMIN4 50628 genome.wustl.edu 37 17 650033 650033 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_015721.2 -1 reviewed p.R417H 0.973 84 0% 38 23.7% 3 0% probably_damaging(0.999) tolerated(0.19) deleterious(0.540) NULL RPA1 6117 genome.wustl.edu 37 17 1791994 1791994 + Missense_Mutation SNP C C G novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_002945.3 +1 validated p.T467R 0.930 183 0% 64 28.1% 16 25% probably_damaging(0.985) deleterious(0.04) deleterious(0.781) HMMPfam_Rep_fac-A_C,superfamily_Nucleic acid-binding proteins SMG6 23293 genome.wustl.edu 37 17 1989033 1989033 + Nonsense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_017575.4 -1 validated p.R1174* 1.000 350 0.3% 166 21.1% 3 0% - - - NULL ZMYND15 84225 genome.wustl.edu 37 17 4647999 4647999 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001136046.1 +1 provisional p.R588H 0.997 84 0% 49 28.6% 3 0% benign(0.007) deleterious(0.04) neutral(0.349) NULL C17orf107 100130311 genome.wustl.edu 37 17 4803727 4803727 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001145536.1 +1 predicted p.R158W 0.010 40 0% 15 33.3% 1 0% benign(0) - - NULL CAMTA2 23125 genome.wustl.edu 37 17 4876927 4876927 + Silent SNP A A C novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_015099.3 -1 validated p.A718 0.386 32 0% 13 46.2% 12 8.3% - - - HMMPfam_Ank,superfamily_Ankyrin repeat SPDYE4 388333 genome.wustl.edu 37 17 8659749 8659749 + Missense_Mutation SNP G G T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001128076.1 -1 provisional p.P116T 0.964 474 0% 224 26.8% 0 - possibly_damaging(0.561) tolerated(0.09) deleterious(0.488) NULL USP43 124739 genome.wustl.edu 37 17 9631382 9631382 + Missense_Mutation SNP G G T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_153210.3 +1 validated p.R816L 0.487 106 0% 49 32.7% 4 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MED9 55090 genome.wustl.edu 37 17 17394702 17394702 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_018019.2 +1 reviewed p.E112K 0.999 79 0% 53 26.4% 2 100% possibly_damaging(0.942) deleterious(0.02) deleterious(0.770) HMMPfam_CSE2 SREBF1 6720 genome.wustl.edu 37 17 17716049 17716049 + Missense_Mutation SNP T T C novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001005291.2 -1 reviewed p.M1141V 1.000 29 0% 17 35.3% 24 37.5% probably_damaging(0.988) deleterious(0.01) deleterious(0.843) NULL FLII 2314 genome.wustl.edu 37 17 18157877 18157877 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_002018.2 -1 reviewed p.T178M 1.000 50 0% 32 25% 6 16.6% probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_SSF52058 FBXW10 10517 genome.wustl.edu 37 17 18659390 18659390 + Silent SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_031456.3 +1 validated p.N385 1.000 628 0% 264 24.2% 0 - - - - superfamily_WD40 repeat-like,superfamily_F-box domain SDF2 6388 genome.wustl.edu 37 17 26976113 26976113 + Missense_Mutation SNP T T C novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_006923.2 -1 reviewed p.H177R 1.000 234 0% 112 28.6% 54 35.1% possibly_damaging(0.776) deleterious(0.05) deleterious(0.635) HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMSmart_SM00472 C1QL1 10882 genome.wustl.edu 37 17 43037706 43037706 + Silent SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_006688.3 -1 provisional p.A209 0.921 249 0% 121 30.6% 3 33.3% - - - HMMPfam_C1q,HMMSmart_C1Q,superfamily_TNF_like FMNL1 752 genome.wustl.edu 37 17 43323674 43323674 + Missense_Mutation SNP G G T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_005892.3 +1 reviewed p.G1063V 1.000 117 0% 53 22.6% 48 2% unknown(0) deleterious(0) - HMMSmart_SM00498 TRIM37 4591 genome.wustl.edu 37 17 57109404 57109404 + Missense_Mutation SNP T T C novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001005207.2 -1 reviewed p.T601A 0.998 122 0% 96 29.2% 1 0% benign(0) tolerated(1) - NULL CEP95 90799 genome.wustl.edu 37 17 62529261 62529263 + In_Frame_Del DEL CCT CCT - novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 CCT CCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_138363.1 +1 provisional p.L625in_frame_del 0.998:1.000:1.000 - - - - - - - - - NULL DNAH17 8632 genome.wustl.edu 37 17 76446422 76446422 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 ENST00000389840 -1 known p.R3638C 1.000 310 0% 182 23.1% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CYTH1 9267 genome.wustl.edu 37 17 76696434 76696434 + Missense_Mutation SNP T T C novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_004762.2 -1 reviewed p.N177D 0.000 145 0% 100 36% 5 20% benign(0.003) deleterious(0.01) neutral(0.406) HMMPfam_Sec7,HMMSmart_SM00222,superfamily_Sec7 domain USP36 57602 genome.wustl.edu 37 17 76802345 76802345 + Silent SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_025090.3 -1 validated p.T703 1.000 249 0.4% 123 27.6% 8 50% - - - NULL SLC25A10 1468 genome.wustl.edu 37 17 79682747 79682747 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_012140.3 +1 provisional p.T118M 0.998 112 0% 39 15.4% 19 15.7% probably_damaging(0.993) deleterious(0.03) deleterious(0.815) superfamily_Mitochondrial carrier,HMMPfam_Mito_carr PTPRM 5797 genome.wustl.edu 37 18 7926586 7926586 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001105244.1 +1 reviewed p.R190W 1.000 202 0% 93 19.4% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_Immunoglobulin PTPN2 5771 genome.wustl.edu 37 18 12801980 12801982 + In_Frame_Del DEL CTC CTC - novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_002828.2 -1 reviewed p.E343in_frame_del 0.116:0.809:0.867 - - - - - - - - - NULL TCEB3B 51224 genome.wustl.edu 37 18 44560056 44560056 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_016427.2 -1 reviewed p.P527L 0.000 100 0% 57 29.8% 0 - benign(0) tolerated(0.13) neutral(0.253) NULL TCEB3B 51224 genome.wustl.edu 37 18 44561056 44561056 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_016427.2 -1 reviewed p.G194R 0.000 98 0% 49 32.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL C18orf54 162681 genome.wustl.edu 37 18 51888209 51888209 + Silent SNP T T C novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_173529.4 +1 validated p.G160 0.798 193 0% 111 24.3% 0 - - - - NULL ANKRD24 170961 genome.wustl.edu 37 19 4219667 4219667 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_133475.1 +1 provisional p.R1028Q 1.000 49 0% 37 18.9% 2 0% possibly_damaging(0.939) tolerated(0.47) neutral(0.396) NULL SLC25A23 79085 genome.wustl.edu 37 19 6456499 6456499 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_024103.2 -1 validated p.R139C 1.000 235 0% 86 30.2% 5 0% probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMSmart_SM00054,superfamily_EF-hand SH2D3A 10045 genome.wustl.edu 37 19 6759615 6759615 + Silent SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_005490.2 -1 validated p.P162 0.000 238 0% 87 36.8% 5 40% - - - NULL INSR 3643 genome.wustl.edu 37 19 7117197 7117197 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_000208.2 -1 reviewed p.A1340V 0.514 96 0% 45 24.4% 3 0% benign(0) tolerated(0.12) neutral(0.261) NULL ARHGEF18 23370 genome.wustl.edu 37 19 7506567 7506567 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001130955.1 +1 reviewed p.D191N 0.980 365 0% 239 30.1% 6 0% probably_damaging(1) tolerated(0.1) deleterious(0.786) NULL MAST1 22983 genome.wustl.edu 37 19 12958222 12958222 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_014975.2 +1 validated p.G149D 1.000 77 0% 32 15.6% 1 0% possibly_damaging(0.768) deleterious(0.04) deleterious(0.634) HMMPfam_DUF1908 AKAP8L 26993 genome.wustl.edu 37 19 15508076 15508076 + Missense_Mutation SNP T T C novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_014371.2 -1 validated p.H474R 1.000 129 0% 61 23% 37 32.4% benign(0.07) deleterious(0.01) neutral(0.411) HMMPfam_AKAP95 OCEL1 79629 genome.wustl.edu 37 19 17337875 17337875 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_024578.1 +1 provisional p.H107Y 0.000 51 0% 34 38.2% 5 0% benign(0.378) tolerated(0.39) neutral(0.137) NULL JAK3 3718 genome.wustl.edu 37 19 17937660 17937660 + Silent SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_000215.3 -1 reviewed p.S1089 0.000 120 0% 43 30.2% 5 0% - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) IL12RB1 3594 genome.wustl.edu 37 19 18177409 18177409 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_005535.1 -1 reviewed p.G476S 0.168 225 0% 77 31.2% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III ZNF728 388523 genome.wustl.edu 37 19 23171248 23171248 + Silent SNP C C T rs185162295 by1000genomes TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 XM_001726961.1 -1 model p.S3 0.053 523 0% 159 20.1% 0 - - - - superfamily_KRAB domain (Kruppel-associated box Pfam 01352) SLC7A9 11136 genome.wustl.edu 37 19 33353428 33353428 + Silent SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001126335.1 -1 reviewed p.T181 0.000 69 0% 40 22.5% 0 - - - - HMMPfam_AA_permease CEP89 84902 genome.wustl.edu 37 19 33450921 33450921 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_032816.3 -1 validated p.R64W 0.325 151 0% 51 23.5% 5 20% benign(0.002) deleterious(0) neutral(0.445) NULL MLL4 9757 genome.wustl.edu 37 19 36227635 36227639 + Frame_Shift_Del DEL AAAGA AAAGA - novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 AAAGA AAAGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_014727.1 +1 reviewed p.K2402fs 1.000:1.000:0.994:1.000:1.000 - - - - - - - - - NULL SUPT5H 6829 genome.wustl.edu 37 19 39965169 39965169 + Silent SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001111020.2 +1 validated p.P945 0.011 85 0% 58 41.4% 116 31.8% - - - NULL TRAPPC6A 79090 genome.wustl.edu 37 19 45668202 45668202 + Missense_Mutation SNP C C A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_024108.1 -1 provisional p.R74M 1.000 104 0% 18 33.3% 39 30.7% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) HMMPfam_TRAPP BBC3 27113 genome.wustl.edu 37 19 47725105 47725105 + Missense_Mutation SNP A A G novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_014417.3 -1 validated p.L179P 1.000 100 0% 22 31.8% 20 30% probably_damaging(0.956) deleterious(0) deleterious(0.844) NULL TULP2 7288 genome.wustl.edu 37 19 49391371 49391371 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_003323.2 -1 validated p.R262C 0.000 53 0% 29 31% 0 - benign(0.032) deleterious(0) neutral(0.446) NULL MYH14 79784 genome.wustl.edu 37 19 50753918 50753918 + Missense_Mutation SNP C C G novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001077186.1 +1 reviewed p.D601E 1.000 76 0% 37 27% 8 75% benign(0.009) tolerated(0.2) neutral(0.050) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYH14 79784 genome.wustl.edu 37 19 50792862 50792862 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001077186.1 +1 reviewed p.R1608H 0.909 119 0% 48 33.3% 54 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_tail_1 KLK8 11202 genome.wustl.edu 37 19 51499358 51499358 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_144505.1 -1 reviewed p.R292H 1.000 276 0% 114 34.2% 1 0% benign(0.094) tolerated(0.29) neutral(0.036) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys SIGLEC10 89790 genome.wustl.edu 37 19 51920120 51920120 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_033130.4 -1 validated p.A169V 0.000 274 0% 135 26.7% 3 0% benign(0.014) tolerated(0.64) neutral(0.004) HMMSmart_SM00409,HMMPfam_C2-set_2,superfamily_Immunoglobulin ZNF175 7728 genome.wustl.edu 37 19 52089946 52089946 + Missense_Mutation SNP T T C novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_007147.2 +1 validated p.M121T 0.002 257 0% 112 28.6% 0 - benign(0.173) tolerated(0.68) neutral(0.018) NULL ZNF808 388558 genome.wustl.edu 37 19 53058325 53058325 + Missense_Mutation SNP G G T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001039886.3 +1 validated p.R719M 0.000 265 0% 141 19.1% 2 50% benign(0.016) tolerated(0.12) neutral(0.261) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LILRB5 10990 genome.wustl.edu 37 19 54754940 54754940 + Silent SNP T T C novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 ENST00000450632 -1 known p.P565 0.000 333 0% 147 22.4% 10 0% - - - NULL NLRP9 338321 genome.wustl.edu 37 19 56243953 56243953 + Missense_Mutation SNP A A T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_176820.2 -1 reviewed p.L415H 0.028 251 0% 120 27.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZNF667 63934 genome.wustl.edu 37 19 56953762 56953762 + Missense_Mutation SNP T T C novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_022103.3 -1 validated p.E201G 0.000 646 0% 244 23% 0 - benign(0.051) tolerated(0.06) neutral(0.326) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF134 7693 genome.wustl.edu 37 19 58132652 58132652 + Nonsense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_003435.3 +1 provisional p.R389* 0.712 221 0% 105 22.9% 6 50% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers TMC2 117532 genome.wustl.edu 37 20 2539168 2539168 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_080751.2 +1 validated p.R50H 0.000 26 0% 14 35.7% 0 - benign(0) tolerated(0.67) neutral(0.003) NULL VPS16 64601 genome.wustl.edu 37 20 2846887 2846887 + Silent SNP T T C novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_022575.2 +1 reviewed p.H767 0.997 369 0% 208 29.3% 53 16.9% - - - HMMPfam_Vps16_C RALGAPA2 57186 genome.wustl.edu 37 20 20596788 20596788 + Silent SNP A A G novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 ENST00000430436 -1 known p.L346P 0.928 313 0% 133 23.3% 1 0% - - - NULL DNMT3B 1789 genome.wustl.edu 37 20 31369167 31369167 + Missense_Mutation SNP T T C novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_006892.3 +1 reviewed p.S51P 1.000 205 0% 91 28.6% 0 - probably_damaging(0.955) deleterious(0.04) deleterious(0.748) NULL COL9A3 1299 genome.wustl.edu 37 20 61458647 61458650 + Splice_Site DEL GTAA GTAA - novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 GTAA GTAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001853.3 +1 reviewed e16+1 0.995:1.000 - - - - - - - - - - PPDPF 79144 genome.wustl.edu 37 20 62152696 62152696 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_024299.2 +1 provisional p.A12V 1.000 6 0.000 13 0.538 220 26.8% possibly_damaging(0.67) deleterious(0.02) deleterious(0.621) NULL UCKL1 54963 genome.wustl.edu 37 20 62571797 62571797 + Missense_Mutation SNP G G T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_017859.2 -1 validated p.H448Q 1.000 43 0% 21 28.6% 26 46.1% benign(0.119) deleterious(0.04) neutral(0.358) superfamily_PRTase-like TCEA2 6919 genome.wustl.edu 37 20 62701931 62701931 + Silent SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_003195.4 +1 reviewed p.T254 0.012 54 1.9% 21 28.6% 103 31% - - - superfamily_Zinc beta-ribbon USP16 10600 genome.wustl.edu 37 21 30411440 30411440 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001032410.1 +1 reviewed p.V276M 0.999 191 0% 82 20.7% 5 0% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_UCH,superfamily_Cysteine proteinases ZNF295 49854 genome.wustl.edu 37 21 43412988 43412988 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001098402.1 -1 validated p.R406H 1.000 231 0% 122 28.7% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL CECR2 27443 genome.wustl.edu 37 22 18022654 18022654 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 ENST00000400573 +1 known p.P919L 1.000 89 0% 26 15.4% 0 - benign(0.032) deleterious(0.01) neutral(0.407) NULL ZNF74 7625 genome.wustl.edu 37 22 20760232 20760234 + In_Frame_Del DEL CTT CTT - novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_003426.2 +1 validated p.F305in_frame_del 0.998:0.999:0.991 - - - - - - - - - HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers PI4KA 5297 genome.wustl.edu 37 22 21075645 21075645 + Missense_Mutation SNP T T G novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_058004.2 -1 reviewed p.Q1628P 1.000 230 0% 114 22.8% 4 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PI3Ka,HMMSmart_SM00145,superfamily_ARM repeat LZTR1 8216 genome.wustl.edu 37 22 21346097 21346097 + Silent SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_006767.3 +1 reviewed p.V324 0.983 44 0% 12 41.7% 1 0% - - - HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain TTC28 23331 genome.wustl.edu 37 22 28503109 28503109 + Missense_Mutation SNP C C G novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001145418.1 -1 validated p.Q908H 1.000 214 0% 91 41.8% 0 - probably_damaging(0.976) tolerated(0.13) deleterious(0.670) HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452 SFI1 9814 genome.wustl.edu 37 22 31985518 31985518 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001007467.1 +1 validated p.R500H 0.574 90 0% 39 12.8% 2 0% benign(0) tolerated(0.62) neutral(0.004) NULL NOL12 79159 genome.wustl.edu 37 22 38084897 38084897 + Silent SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_024313.2 +1 validated p.T93 0.053 133 0% 56 16.1% 45 40% - - - HMMPfam_Nop25 FBLN1 2192 genome.wustl.edu 37 22 45938048 45938048 + Silent SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_006486.2 +1 reviewed p.C360 0.002 134 0% 54 33.3% 641 52.8% - - - HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin TTC38 55020 genome.wustl.edu 37 22 46677540 46677540 + Silent SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 ENST00000422713 +1 known p.S171L 0.001 222 0% 99 24.2% 5 20% - - - superfamily_TPR-like PPP6R2 9701 genome.wustl.edu 37 22 50879250 50879250 + Splice_Site SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_014678.3 +1 validated e19-1 0.136 93 0% 34 20.6% 0 - - - - - CSF2RA 1438 genome.wustl.edu 37 X 1404676 1404676 + Nonsense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_006140.4 +1 reviewed p.R28* 0.000 235 0% 160 30% 1 0% - - - NULL P2RY8 286530 genome.wustl.edu 37 X 1585131 1585131 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_178129.4 -1 reviewed p.M107I 1.000 238 0% 125 26.4% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,superfamily_SSF81321 POLA1 5422 genome.wustl.edu 37 X 24712104 24712104 + Frame_Shift_Del DEL G G - novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 ENST00000379068 +1 known p.C9fs 0.000 - - - - - - - - - NULL LOC389842 389842 genome.wustl.edu 37 X 25664149 25664149 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 XM_372200.7 -1 model p.C99Y 1.000 89 0% 53 26.4% 1 0% - - - HMMPfam_Ran_BP1,HMMSmart_SM00160,superfamily_PH domain-like MAGEB3 4114 genome.wustl.edu 37 X 30254804 30254804 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_002365.4 +1 reviewed p.L255F 0.041 303 0% 180 32.8% 0 - probably_damaging(0.997) deleterious(0.03) deleterious(0.831) HMMPfam_MAGE TAB3 257397 genome.wustl.edu 37 X 30872892 30872892 + Missense_Mutation SNP G G T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_152787.3 -1 reviewed p.P297H 1.000 451 0% 178 23.6% 2 0% benign(0.076) tolerated(0.36) neutral(0.026) NULL BCOR 54880 genome.wustl.edu 37 X 39921480 39921480 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001123385.1 -1 reviewed p.R1447H 1.000 270 0% 111 22.5% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Ankyrin repeat USP11 8237 genome.wustl.edu 37 X 47099826 47099826 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_004651.3 +1 reviewed p.D263N 0.982 308 0% 83 33.7% 5 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_DUF1055 FOXP3 50943 genome.wustl.edu 37 X 49113237 49113239 + In_Frame_Del DEL CTT CTT - novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_014009.3 -1 reviewed p.K206in_frame_del 0.999:1.000:1.000 - - - - - - - - - PatternScan_ZINC_FINGER_C2H2_1 DGAT2L6 347516 genome.wustl.edu 37 X 69424938 69424938 + Silent SNP A A G novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_198512.1 +1 provisional p.Q332 0.807 215 0% 64 21.9% 0 - - - - HMMPfam_DAGAT P2RY4 5030 genome.wustl.edu 37 X 69478836 69478836 + Silent SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_002565.3 -1 reviewed p.C213 0.997 132 0% 48 29.2% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 TAF1 6872 genome.wustl.edu 37 X 70597000 70597000 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_004606.3 +1 reviewed p.P245S 1.000 266 0.4% 98 24.5% 0 - possibly_damaging(0.736) tolerated(0.12) deleterious(0.530) NULL NAP1L2 4674 genome.wustl.edu 37 X 72433664 72433666 + In_Frame_Del DEL TCC TCC - novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_021963.2 -1 reviewed p.E221in_frame_del 0.004:0.003:0.000 - - - - - - - - - HMMPfam_NAP BMP2KL 347359 genome.wustl.edu 37 X 73406645 73406645 + Silent SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 ENST00000414251 +1 known p.P295L 0.952 40 0% 22 27.3% 0 - - - - NULL ATRX 546 genome.wustl.edu 37 X 76764013 76764013 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_000489.3 -1 reviewed p.T2432I 1.000 311 0% 149 26.2% 11 0% possibly_damaging(0.753) deleterious(0.04) deleterious(0.625) NULL PGAM4 441531 genome.wustl.edu 37 X 77225100 77225100 + Silent SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001029891.2 -1 reviewed p.G12 1.000 96 0% 50 14% 0 - - - - PatternScan_PG_MUTASE,HMMPfam_PGAM,superfamily_SSF53254 ARMCX5 64860 genome.wustl.edu 37 X 101857764 101857764 + Missense_Mutation SNP T T A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_022838.3 +1 validated p.L232Q 0.970 321 0% 115 31.3% 4 0% probably_damaging(0.999) tolerated(0.28) deleterious(0.522) NULL TCEAL4 79921 genome.wustl.edu 37 X 102841601 102841601 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 ENST00000372629 +1 known p.D143N 0.613 287 0% 283 25.8% 100 62% benign(0.159) deleterious(0.04) neutral(0.363) NULL NRK 203447 genome.wustl.edu 37 X 105125773 105125773 + Splice_Site SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_198465.2 +1 validated e4+1 0.948 405 0% 95 21.1% 0 - - - - - TEX13B 56156 genome.wustl.edu 37 X 107224930 107224930 + Missense_Mutation SNP C C A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_031273.2 -1 reviewed p.R143L 0.043 147 0% 39 28.2% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL VSIG1 340547 genome.wustl.edu 37 X 107316575 107316575 + Frame_Shift_Del DEL T T - novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_182607.4 +1 reviewed p.C222fs 1.000 - - - - - - - - - superfamily_SSF48726 IRS4 8471 genome.wustl.edu 37 X 107975873 107975873 + Silent SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_003604.2 -1 reviewed p.D1234 0.000 196 0% 110 28.2% 0 - - - - NULL RBMXL3 139804 genome.wustl.edu 37 X 114426819 114426819 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001145346.1 +1 validated p.R939W 0.648 32 0% 17 47.1% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL STAG2 10735 genome.wustl.edu 37 X 123202493 123202493 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001042749.1 +1 validated p.T782I 1.000 267 0% 127 33.1% 6 66.6% benign(0.001) tolerated(0.18) neutral(0.056) superfamily_ARM-type_fold STAG2 10735 genome.wustl.edu 37 X 123215294 123215294 + Missense_Mutation SNP G G C novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_001042749.1 +1 validated p.G947A 1.000 398 0% 216 28.2% 10 0% benign(0) tolerated(0.51) neutral(0.009) superfamily_ARM-type_fold ZNF75D 7626 genome.wustl.edu 37 X 134421629 134421630 + Frame_Shift_Del DEL TG TG - novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_007131.3 -1 reviewed p.H324fs 0.001:0.000 - - - - - - - - - NULL SLITRK4 139065 genome.wustl.edu 37 X 142718707 142718707 + Missense_Mutation SNP A A G novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_173078.3 -1 reviewed p.I73T 1.000 57 0% 45 26.7% 0 - benign(0.001) tolerated(0.15) neutral(0.241) superfamily_L domain-like IDS 3423 genome.wustl.edu 37 X 148586605 148586605 + Silent SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_000202.5 -1 reviewed p.C21 0.000 63 0% 45 37.8% 3 0% - - - NULL PASD1 139135 genome.wustl.edu 37 X 150817142 150817144 + In_Frame_Del DEL GCT GCT - novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 GCT GCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_173493.2 +1 reviewed p.A232in_frame_del 0.000:0.000:0.000 - - - - - - - - - NULL SLC6A8 6535 genome.wustl.edu 37 X 152959970 152959970 + Missense_Mutation SNP C C T novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 ENST00000328897 +1 known p.R587C 0.000 90 0% 50 22% 0 - - - - HMMPfam_SNF HCFC1 3054 genome.wustl.edu 37 X 153220732 153220732 + Missense_Mutation SNP G G A novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_005334.2 -1 reviewed p.H1040Y 0.262 168 0% 87 31% 1 0% benign(0.002) deleterious(0.02) neutral(0.383) NULL TAZ 6901 genome.wustl.edu 37 X 153648416 153648416 + Missense_Mutation SNP T T C novel TCGA-AX-A06H-01A-11D-A122-09 TCGA-AX-A06H-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 11d8d059-34e4-4597-a62e-94e038923395 40123dc6-8f3a-48de-9a5a-61196884ecb5 NM_000116.3 +1 reviewed p.L210P 1.000 209 0% 96 22.9% 16 0% probably_damaging(0.969) deleterious(0) deleterious(0.856) HMMPfam_Acyltransferase,HMMSmart_SM00563,superfamily_Glycerol-3-phosphate (1)-acyltransferase