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 GNB1 2782 genome.wustl.edu 37 1 1735936 1735936 + Missense_Mutation SNP C C A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_002074.2 -1 reviewed p.D118Y 1.000 66 0% 72 37.5% 68 35.2% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 CHD5 26038 genome.wustl.edu 37 1 6186791 6186791 + Frame_Shift_Del DEL C C - novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_015557.1 -1 provisional p.E1307fs 1.000 - - - - - - - - - HMMPfam_DUF1087 CAMTA1 23261 genome.wustl.edu 37 1 7725036 7725036 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_015215.1 +1 validated p.A810V 1.000 23 0% 32 43.8% 0 - benign(0.039) deleterious(0.05) neutral(0.347) NULL CLSTN1 22883 genome.wustl.edu 37 1 9804553 9804553 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001009566.1 -1 validated p.V378 0.032 33 0% 49 34.7% 12 41.6% - - - superfamily_Concanavalin A-like lectins/glucanases KIF1B 23095 genome.wustl.edu 37 1 10380147 10380147 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_015074.3 +1 reviewed p.R675Q 0.503 144 0% 149 34.9% 0 - benign(0.009) tolerated(0.66) neutral(0.003) NULL CASZ1 54897 genome.wustl.edu 37 1 10706283 10706283 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001079843.1 -1 validated p.E1200K 1.000 11 0% 15 40% 2 0% probably_damaging(0.995) tolerated(0.13) deleterious(0.710) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355 SPATA21 374955 genome.wustl.edu 37 1 16748433 16748433 + Missense_Mutation SNP G G A rs149847071 by1000genomes TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_198546.1 -1 provisional p.T23M 0.000 186 0% 212 23.6% 0 - benign(0.001) tolerated(0.19) neutral(0.050) NULL UBR4 23352 genome.wustl.edu 37 1 19523661 19523661 + Missense_Mutation SNP A A G novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_020765.2 -1 validated p.V331A 1.000 137 0% 123 20.3% 0 - possibly_damaging(0.639) tolerated(0.29) neutral(0.253) NULL KIF17 57576 genome.wustl.edu 37 1 21011475 21011475 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_020816.2 -1 validated p.V686 0.000 13 0% 10 40% 1 0% - - - NULL CDC42 998 genome.wustl.edu 37 1 22413170 22413170 + Silent SNP T T A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001039802.1 +1 reviewed p.P99 1.000 447 0.2% 498 36.7% 97 39.1% - - - HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases EPHA8 2046 genome.wustl.edu 37 1 22902803 22902803 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_020526.3 +1 reviewed p.R85C 1.000 18 0% 41 29.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ephrin_lbd,HMMSmart_EPH_lbd,superfamily_Gal_bind_like KDM1A 23028 genome.wustl.edu 37 1 23409810 23409810 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_015013.3 +1 reviewed p.R838C 1.000 79 0% 82 34.1% 73 38.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL EIF2C4 192670 genome.wustl.edu 37 1 36282513 36282513 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_017629.2 +1 reviewed p.R17H 1.000 210 0% 190 20% 1 100% possibly_damaging(0.861) tolerated(0.09) deleterious(0.629) NULL EIF2C3 192669 genome.wustl.edu 37 1 36439007 36439007 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_024852.2 +1 reviewed p.A185T 1.000 237 0% 263 36.5% 2 100% benign(0) tolerated(0.14) neutral(0.249) HMMPfam_DUF1785 EPHA10 284656 genome.wustl.edu 37 1 38227332 38227332 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001099439.1 -1 validated p.V199M 1.000 29 0% 35 34.3% 0 - probably_damaging(0.997) tolerated(0.96) neutral(0.466) HMMPfam_Ephrin_lbd,HMMSmart_SM00615,PatternScan_RECEPTOR_TYR_KIN_V_1,superfamily_Galactose-binding domain-like PPT1 5538 genome.wustl.edu 37 1 40539825 40539825 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_000310.3 -1 reviewed p.A277T 0.971 327 0% 283 35.7% 24 25% possibly_damaging(0.439) tolerated(0.1) neutral(0.429) HMMPfam_Palm_thioest,superfamily_alpha/beta-Hydrolases MUTYH 4595 genome.wustl.edu 37 1 45799269 45799269 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001128425.1 -1 reviewed p.A55V 0.003 31 0% 53 24.5% 0 - benign(0.083) tolerated(0.17) neutral(0.065) NULL ACOT11 26027 genome.wustl.edu 37 1 55064992 55064992 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_015547.2 +1 reviewed p.T263M 0.999 57 0% 58 29.3% 1 100% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_4HBT,superfamily_Thioesterase/thiol ester dehydrase-isomerase C1orf168 199920 genome.wustl.edu 37 1 57206385 57206385 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001004303.4 -1 validated p.S563L 0.175 126 0% 185 36.2% 4 0% benign(0.001) tolerated(0.41) neutral(0.015) NULL RABGGTB 5876 genome.wustl.edu 37 1 76255030 76255030 + Missense_Mutation SNP A A G novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_004582.2 +1 provisional p.S100G 0.998 139 0% 151 35.1% 11 45.4% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Prenyltrans,superfamily_Terpenoid cyclases/Protein prenyltransferases ZNF644 84146 genome.wustl.edu 37 1 91406436 91406436 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_201269.1 -1 validated p.A159T 0.984 266 0% 187 37.4% 1 100% benign(0.028) deleterious(0.04) neutral(0.350) NULL ABCA4 24 genome.wustl.edu 37 1 94568582 94568582 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_000350.2 -1 reviewed p.R187C 1.000 362 0% 445 29% 0 - probably_damaging(0.982) tolerated(0.11) deleterious(0.698) NULL CCDC76 54482 genome.wustl.edu 37 1 100613729 100613729 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_019083.2 +1 validated p.R366Q 1.000 275 0% 263 37.6% 2 0% probably_damaging(0.999) tolerated(0.27) deleterious(0.524) HMMPfam_TRM13 TMEM167B 56900 genome.wustl.edu 37 1 109635644 109635644 + Splice_Site SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_020141.3 +1 provisional e2+1 1.000 229 0% 270 43.3% 3 100% - - - - PIP5K1A 8394 genome.wustl.edu 37 1 151214646 151214646 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001135638.1 +1 validated p.R471W 1.000 526 0% 515 21.2% 18 33.3% probably_damaging(0.985) deleterious(0.01) deleterious(0.838) NULL TCHH 7062 genome.wustl.edu 37 1 152081481 152081481 + Silent SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_007113.2 -1 provisional p.R1404 0.000 326 0% 499 30.7% 0 - - - - NULL DCST2 127579 genome.wustl.edu 37 1 154991221 154991223 + In_Frame_Del DEL CTC CTC - novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_144622.2 -1 validated p.E707in_frame_del 0.005:0.020:0.072 - - - - - - - - - NULL DCST2 127579 genome.wustl.edu 37 1 155005945 155005945 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_144622.2 -1 validated p.A78V 0.185 53 0% 59 30.5% 0 - benign(0) tolerated(0.57) neutral(0.006) NULL ADAM15 8751 genome.wustl.edu 37 1 155029439 155029439 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_207197.1 +1 reviewed p.T337I 0.801 43 0% 90 14.4% 25 12% possibly_damaging(0.838) deleterious(0.04) deleterious(0.669) "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" EFNA1 1942 genome.wustl.edu 37 1 155106005 155106005 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_004428.2 +1 reviewed p.R139C 0.857 108 0% 155 13.5% 75 33.3% possibly_damaging(0.837) deleterious(0.01) deleterious(0.725) HMMPfam_Ephrin,superfamily_Cupredoxins HCN3 57657 genome.wustl.edu 37 1 155257024 155257024 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_020897.1 +1 validated p.R513H 1.000 79 0% 123 17.9% 0 - benign(0.127) tolerated(0.15) neutral(0.252) HMMPfam_cNMP_binding,HMMSmart_cNMP,superfamily_cNMP_binding DAP3 7818 genome.wustl.edu 37 1 155701786 155701786 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_004632.2 +1 reviewed p.P319S 1.000 67 0% 47 23.4% 64 26.5% benign(0.001) tolerated(0.57) neutral(0.006) HMMPfam_DAP3 HDGF 3068 genome.wustl.edu 37 1 156713504 156713506 + In_Frame_Del DEL TCC TCC - novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001126050.1 -1 reviewed p.E234in_frame_del 0.215:0.232:0.214 - - - - - - - - - NULL HDGF 3068 genome.wustl.edu 37 1 156713985 156713985 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001126050.1 -1 reviewed p.A169 0.027 249 0% 382 28.5% 77 24.6% - - - NULL CD5L 922 genome.wustl.edu 37 1 157803113 157803113 + Missense_Mutation SNP G G T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_005894.2 -1 validated p.P303H 0.001 196 0% 269 24.9% 0 - probably_damaging(0.993) tolerated(0.19) deleterious(0.499) HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like MNDA 4332 genome.wustl.edu 37 1 158815411 158815411 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_002432.1 +1 reviewed p.A202V 0.000 101 0% 78 20.5% 3 0% benign(0.132) deleterious(0.05) neutral(0.356) NULL FCGR2C 9103 genome.wustl.edu 37 1 161569498 161569498 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_201563.4 +1 reviewed p.G293S 0.001 160 0% 202 16.8% 6 0% benign(0.231) deleterious(0) neutral(0.468) NULL ADCY10 55811 genome.wustl.edu 37 1 167805576 167805576 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_018417.4 -1 reviewed p.A1094T 0.464 172 0% 192 26.6% 0 - probably_damaging(0.991) tolerated(0.08) deleterious(0.744) superfamily_TPR-like FMO4 2329 genome.wustl.edu 37 1 171300845 171300845 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_002022.1 +1 reviewed p.G184D 0.995 250 0% 458 27.9% 2 0% benign(0.009) tolerated(0.36) neutral(0.021) HMMPfam_FMO-like,superfamily_FAD/NAD(P)-binding domain PRRC2C 23215 genome.wustl.edu 37 1 171481297 171481297 + Missense_Mutation SNP A A T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_015172.3 +1 validated p.N24Y 1.000 72 0% 108 28.7% 1 100% unknown(0) - - HMMPfam_BAT2_N C1orf9 51430 genome.wustl.edu 37 1 172526830 172526830 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_014283.3 +1 validated p.G210* 1.000 70 0% 125 26.4% 1 0% - - - NULL LOC646870 646870 genome.wustl.edu 37 1 173331761 173331761 + RNA SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d XR_040282.2 -1 model NULL 0.999 209 0% 274 27.7% 0 - - - - - TNN 63923 genome.wustl.edu 37 1 175067562 175067562 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_022093.1 +1 validated p.Y650 0.079 152 0.7% 228 21.1% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III SOAT1 6646 genome.wustl.edu 37 1 179319446 179319446 + Missense_Mutation SNP T T A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_003101.4 +1 provisional p.F444I 0.998 253 0% 325 24.3% 4 25% benign(0.001) tolerated(0.39) neutral(0.016) HMMPfam_MBOAT ENSG00000247866 0 genome.wustl.edu 37 1 180151466 180151466 + RNA SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d ENST00000500066 -1 known NULL 0.000 199 0% 278 26.3% 0 - - - - - CACNA1E 777 genome.wustl.edu 37 1 181687196 181687196 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_000721.2 +1 reviewed p.A511T 1.000 39 0% 63 22.2% 0 - probably_damaging(0.99) tolerated(0.17) deleterious(0.500) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels B3GALT2 8707 genome.wustl.edu 37 1 193149938 193149938 + Missense_Mutation SNP T T C novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_003783.3 -1 reviewed p.D252G 1.000 127 0% 205 22.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Galactosyl_T CAMSAP2 23271 genome.wustl.edu 37 1 200822523 200822523 + Silent SNP T T C novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d ENST00000447701 +1 known p.*118Q 0.709 219 0.5% 248 22.6% 3 0% - - - NULL NAV1 89796 genome.wustl.edu 37 1 201618395 201618395 + Missense_Mutation SNP A A G novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_020443.4 +1 reviewed p.D200G 1.000 4 0.000 9 0.444 1 100% possibly_damaging(0.85) tolerated(0.31) neutral(0.354) NULL CHI3L1 1116 genome.wustl.edu 37 1 203155445 203155445 + Silent SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001276.2 -1 reviewed p.C18 1.000 34 0% 21 23.8% 14 7.1% - - - NULL CR2 1380 genome.wustl.edu 37 1 207651401 207651401 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001006658.2 +1 reviewed p.A1025V 0.965 36 0% 68 35.3% 0 - possibly_damaging(0.948) deleterious(0.05) deleterious(0.736) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module IARS2 55699 genome.wustl.edu 37 1 220320921 220320921 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_018060.3 +1 validated p.A995T 0.119 96 0% 151 20.5% 51 31.3% benign(0.029) tolerated(0.94) neutral(0.002) superfamily_Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases,HMMPfam_zf-FPG_IleRS TLR5 7100 genome.wustl.edu 37 1 223283807 223283807 + Missense_Mutation SNP G G T rs145537963 by1000genomes TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_003268.5 -1 reviewed p.T856N 0.007 115 0% 157 45.9% 24 66.6% probably_damaging(0.993) deleterious(0) deleterious(0.895) NULL WDR26 80232 genome.wustl.edu 37 1 224585799 224585799 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_025160.6 -1 reviewed p.D445N 1.000 147 0% 135 27.4% 13 0% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 GUK1 2987 genome.wustl.edu 37 1 228335132 228335132 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_000858.5 +1 validated p.A93T 1.000 9 0.000 21 0.286 336 23.8% benign(0.285) tolerated(0.55) neutral(0.095) HMMPfam_Guanylate_kin,HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases ACTA1 58 genome.wustl.edu 37 1 229568848 229568848 + Silent SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001100.3 -1 reviewed p.D5 0.975 37 0% 65 23.1% 0 - - - - HMMPfam_Actin,superfamily_Actin-like ATPase domain ARID4B 51742 genome.wustl.edu 37 1 235345770 235345770 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_016374.5 -1 reviewed p.R822C 1.000 372 0% 379 20.3% 3 33.3% probably_damaging(0.991) deleterious(0.04) deleterious(0.793) NULL EDARADD 128178 genome.wustl.edu 37 1 236577587 236577587 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_145861.2 +1 reviewed p.E50K 0.881 125 0.8% 105 31.4% 0 - benign(0.022) tolerated(0.23) neutral(0.043) NULL FH 2271 genome.wustl.edu 37 1 241663824 241663824 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_000143.2 -1 reviewed p.V435M 1.000 334 0% 420 25% 54 40.7% probably_damaging(0.97) deleterious(0) deleterious(0.857) superfamily_L-aspartase-like KMO 8564 genome.wustl.edu 37 1 241755363 241755363 + Missense_Mutation SNP T T G novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_003679.3 +1 validated p.W457G 0.735 350 0.3% 475 22.9% 1 0% benign(0.054) tolerated(0.51) neutral(0.012) NULL CNST 163882 genome.wustl.edu 37 1 246829135 246829135 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_152609.2 +1 validated p.D702 1.000 72 0% 92 22.8% 1 100% - - - NULL ZNF672 79894 genome.wustl.edu 37 1 249142831 249142831 + Nonstop_Mutation SNP A A C novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_024836.1 +1 provisional p.*453S 0.001 16 0% 29 24.1% 30 6.6% - - - NULL PXDN 7837 genome.wustl.edu 37 2 1664730 1664730 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d ENST00000433670 -1 known p.Q583* 1.000 16 0% 36 44.4% 0 - benign(0.431) tolerated(0.3) neutral(0.169) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin COLEC11 78989 genome.wustl.edu 37 2 3651926 3651926 + Missense_Mutation SNP T T C novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d ENST00000418971 +1 known p.L13P 0.957 49 0% 70 34.3% 0 - probably_damaging(0.956) deleterious(0) deleterious(0.844) NULL CPSF3 51692 genome.wustl.edu 37 2 9576415 9576415 + Missense_Mutation SNP A A G novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_016207.2 +1 provisional p.I229V 1.000 123 0% 143 36.4% 4 50% benign(0.006) tolerated(0.29) neutral(0.029) superfamily_Metallo-hydrolase/oxidoreductase APOB 338 genome.wustl.edu 37 2 21231843 21231843 + Missense_Mutation SNP A A G novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_000384.2 -1 reviewed p.F2633L 0.897 470 0% 401 38.4% 0 - benign(0.393) - - NULL APOB 338 genome.wustl.edu 37 2 21233870 21233870 + Missense_Mutation SNP C C A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_000384.2 -1 reviewed p.R1957M 0.000 386 0% 348 36.8% 0 - possibly_damaging(0.496) - - NULL POMC 5443 genome.wustl.edu 37 2 25384144 25384144 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_000939.2 -1 reviewed p.D204N 0.940 9 0.000 17 0.294 2 100% benign(0.273) deleterious(0.03) neutral(0.394) NULL SNX17 9784 genome.wustl.edu 37 2 27596116 27596116 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_014748.2 +1 reviewed p.R87W 1.000 44 0% 54 29.6% 17 35.2% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_PX,HMMSmart_PX,superfamily_PX NRXN1 9378 genome.wustl.edu 37 2 51147142 51147142 + Nonstop_Mutation SNP A A T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d ENST00000405581 -1 known p.*279K 0.000 17 0% 18 61.1% 0 - - - - NULL WDPCP 51057 genome.wustl.edu 37 2 63664574 63664574 + Missense_Mutation SNP A A G novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_015910.4 -1 validated p.L205P 1.000 110 0% 128 41.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TIA1 7072 genome.wustl.edu 37 2 70444097 70444097 + Silent SNP A A T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_022173.2 -1 reviewed p.G168 0.999 234 0% 195 33.3% 16 43.7% - - - HMMPfam_RRM_1,HMMSmart_SM00360,HMMSmart_SM00361,superfamily_RNA-binding domain RBD FIGLA 344018 genome.wustl.edu 37 2 71012719 71012719 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001004311.3 -1 reviewed p.T146I 0.000 462 0% 558 32.3% 0 - benign(0) tolerated(0.81) neutral(0.001) NULL TET3 200424 genome.wustl.edu 37 2 74326595 74326595 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_144993.1 +1 provisional p.E1019K 1.000 13 0% 13 30.8% 0 - possibly_damaging(0.809) deleterious(0.02) deleterious(0.688) NULL TACR1 6869 genome.wustl.edu 37 2 75425989 75425989 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001058.3 -1 reviewed p.Q24 1.000 45 0% 63 23.8% 0 - - - - superfamily_Family A G protein-coupled receptor-like KCMF1 56888 genome.wustl.edu 37 2 85276735 85276735 + Missense_Mutation SNP A A G novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_020122.4 +1 validated p.Q283R 1.000 111 0% 88 34.1% 45 55.5% benign(0.031) tolerated(0.09) neutral(0.298) NULL ST6GAL2 84620 genome.wustl.edu 37 2 107460133 107460133 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001142351.1 -1 validated p.Q101* 0.000 43 0% 45 35.6% 0 - - - - NULL MYO7B 4648 genome.wustl.edu 37 2 128334253 128334253 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001080527.1 +1 provisional p.G273 0.000 17 0% 16 62.5% 1 0% - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases ACVR1 90 genome.wustl.edu 37 2 158630626 158630626 + Missense_Mutation SNP C C T rs121912678 TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001105.4 -1 reviewed p.R206H 1.000 278 0.7% 312 34.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TGF_beta_GS,HMMSmart_GS,superfamily_Kinase_like GAD1 2571 genome.wustl.edu 37 2 171716307 171716307 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_000817.2 +1 reviewed p.R567Q 1.000 65 0% 45 42.2% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_PLP-dependent transferases RBM45 129831 genome.wustl.edu 37 2 178988319 178988319 + Silent SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_152945.2 +1 provisional p.Q308 1.000 119 0% 126 28.6% 1 0% - - - HMMSmart_SM00360,superfamily_RNA-binding domain RBD TTN 7273 genome.wustl.edu 37 2 179410297 179410297 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d ENST00000356127 -1 known p.R29277H 1.000 491 0% 542 35.4% 0 - probably_damaging(0.999) - - HMMPfam_fn3,HMMSmart_SM00060 SSFA2 6744 genome.wustl.edu 37 2 182780007 182780007 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001130445.1 +1 validated p.T547M 0.999 300 0% 284 33.1% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SPATS2L 26010 genome.wustl.edu 37 2 201284208 201284208 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001100422.1 +1 validated p.R145H 0.386 76 0% 80 36.2% 7 28.5% possibly_damaging(0.7) tolerated(0.21) neutral(0.295) HMMPfam_DUF1387 CASP8 841 genome.wustl.edu 37 2 202150039 202150039 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001080125.1 +1 reviewed p.R494* 0.956 242 0% 318 33% 6 16.6% - - - HMMPfam_Peptidase_C14,HMMSmart_SM00115,superfamily_Caspase-like PARD3B 117583 genome.wustl.edu 37 2 206166190 206166190 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_152526.4 +1 validated p.G737S 0.995 230 0% 257 35% 0 - probably_damaging(0.956) tolerated(0.06) deleterious(0.722) NULL INO80D 54891 genome.wustl.edu 37 2 206921231 206921233 + In_Frame_Del DEL AAG AAG - novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_017759.4 -1 validated p.S218in_frame_del 0.061:0.037:0.040 - - - - - - - - - NULL SPAG16 79582 genome.wustl.edu 37 2 214174843 214174843 + Missense_Mutation SNP T T C novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_024532.3 +1 validated p.C114R 1.000 197 0% 208 39.4% 0 - benign(0.021) tolerated(0.66) neutral(0.004) superfamily_WD40 repeat-like FN1 2335 genome.wustl.edu 37 2 216272025 216272025 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_212482.1 -1 reviewed p.S846 0.063 262 0% 276 38% 14 28.5% - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III CDK5R2 8941 genome.wustl.edu 37 2 219825409 219825409 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_003936.3 +1 reviewed p.D289 1.000 112 0% 105 31.4% 0 - - - - HMMPfam_CDK5_activator,superfamily_Cyclin_like SPEG 10290 genome.wustl.edu 37 2 220333959 220333959 + Silent SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_005876.4 +1 validated p.L1191 1.000 11 0% 16 37.5% 0 - - - - HMMPfam_I-set,superfamily_Immunoglobulin GMPPA 29926 genome.wustl.edu 37 2 220371038 220371038 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_013335.2 +1 reviewed p.R352 0.011 54 0% 50 38% 36 25% - - - HMMPfam_Hexapep,superfamily_Trimeric LpxA-like enzymes ARMC9 80210 genome.wustl.edu 37 2 232087534 232087534 + Splice_Site SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_025139.3 +1 validated e5+1 1.000 89 0% 58 36.2% 0 - - - - - SNORA75 654321 genome.wustl.edu 37 2 232320595 232320595 + RNA SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NR_002921.1 -1 provisional NULL 1.000 122 0% 146 39.7% 1 100% - - - - GIGYF2 26058 genome.wustl.edu 37 2 233710483 233710483 + Missense_Mutation SNP A A T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001103147.1 +1 reviewed p.E1137V 1.000 189 0% 196 31.1% 1 0% unknown(0) deleterious(0.01) - NULL GRM7 2917 genome.wustl.edu 37 3 7494328 7494328 + Silent SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_181874.2 +1 reviewed p.E403 1.000 239 0% 208 29.3% 0 - - - - HMMPfam_ANF_receptor,superfamily_SSF53822 FANCD2 2177 genome.wustl.edu 37 3 10108961 10108961 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d ENST00000421731 +1 known p.T318I 1.000 46 0% 44 34.1% 0 - - - - NULL ARPP21 10777 genome.wustl.edu 37 3 35756947 35756947 + Missense_Mutation SNP A A G novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_016300.4 +1 validated p.E305G 1.000 186 0% 183 33.3% 0 - possibly_damaging(0.658) deleterious(0.03) deleterious(0.597) NULL TRANK1 9881 genome.wustl.edu 37 3 36898196 36898196 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_014831.2 -1 provisional p.R412K 0.000 547 0% 441 35.6% 1 100% benign(0) tolerated(1) - NULL EPM2AIP1 9852 genome.wustl.edu 37 3 37032815 37032815 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_014805.3 -1 reviewed p.R585Q 0.998 118 0% 147 24.5% 0 - probably_damaging(1) tolerated(0.16) deleterious(0.559) NULL DLEC1 9940 genome.wustl.edu 37 3 38081031 38081031 + Silent SNP A A G rs7616776 byCluster;byFrequency;by2Hit2Allele;by1000genomes TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_007337.2 +1 reviewed p.S105 0.002 83 0% 73 54.8% 0 - - - - NULL XIRP1 165904 genome.wustl.edu 37 3 39228932 39228932 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_194293.2 -1 provisional p.Q669* 0.992 59 0% 63 36.5% 0 - - - - HMMPfam_Xin HHATL 57467 genome.wustl.edu 37 3 42739794 42739794 + Missense_Mutation SNP C C A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_020707.3 -1 validated p.G178V 1.000 92 0% 84 31% 0 - probably_damaging(1) tolerated(0.28) deleterious(0.531) HMMPfam_MBOAT TGM4 7047 genome.wustl.edu 37 3 44952500 44952500 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_003241.3 +1 validated p.A553T 0.000 121 0% 114 36.8% 0 - benign(0.007) tolerated(0.26) neutral(0.034) superfamily_Transglut_C CCDC12 151903 genome.wustl.edu 37 3 46963754 46963754 + Silent SNP C C A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_144716.3 -1 validated p.R130 1.000 66 0% 72 29.2% 43 46.5% - - - HMMPfam_cwf18 PLXNB1 5364 genome.wustl.edu 37 3 48456705 48456705 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001130082.1 -1 validated p.T1282 0.003 9 0.000 20 0.400 13 46.1% - - - HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains COL7A1 1294 genome.wustl.edu 37 3 48630626 48630628 + In_Frame_Del DEL GAA GAA - novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_000094.3 -1 reviewed p.F197in_frame_del 0.676:0.963:1.000 - - - - - - - - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like CELSR3 1951 genome.wustl.edu 37 3 48689046 48689046 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001407.2 -1 reviewed p.C2010Y 1.000 19 0% 30 30% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_EGF/Laminin MST1R 4486 genome.wustl.edu 37 3 49940735 49940735 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_002447.2 -1 validated p.T103M 0.993 19 0% 19 42.1% 1 100% possibly_damaging(0.945) tolerated(0.22) neutral(0.431) HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain SEMA3B 7869 genome.wustl.edu 37 3 50311359 50311359 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_004636.2 +1 reviewed p.A336V 1.000 14 0% 12 33.3% 26 26.9% unknown(0) - - NULL DOCK3 1795 genome.wustl.edu 37 3 51395481 51395481 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_004947.3 +1 validated p.F1619 1.000 139 0% 122 35.2% 0 - - - - HMMPfam_Ded_cyto ACY1 95 genome.wustl.edu 37 3 52020476 52020476 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_000666.1 +1 reviewed p.R161Q 0.999 44 0% 28 35.7% 15 26.6% probably_damaging(0.979) tolerated(0.33) neutral(0.446) HMMPfam_Peptidase_M20,superfamily_SSF53187 NISCH 11188 genome.wustl.edu 37 3 52521685 52521685 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_007184.3 +1 validated p.A726V 0.962 22 0% 34 32.4% 13 46.1% probably_damaging(0.978) deleterious(0) deleterious(0.865) NULL SFMBT1 51460 genome.wustl.edu 37 3 52962221 52962221 + Missense_Mutation SNP A A G novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001005158.1 -1 reviewed p.I345T 1.000 171 0% 204 28.9% 0 - benign(0.141) deleterious(0) neutral(0.457) HMMPfam_MBT,HMMSmart_SM00561,superfamily_Tudor/PWWP/MBT SYNPR 132204 genome.wustl.edu 37 3 63466616 63466616 + Missense_Mutation SNP T T A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001130003.1 +1 validated p.F65I 0.986 322 0% 293 29.4% 0 - benign(0.043) tolerated(0.1) neutral(0.289) HMMPfam_MARVEL OR5H15 403274 genome.wustl.edu 37 3 97888123 97888123 + Missense_Mutation SNP A A G novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001005515.1 +1 provisional p.I194V 0.020 211 0% 196 38.8% 0 - benign(0.002) tolerated(0.29) neutral(0.029) HMMPfam_7tm_1,superfamily_SSF81321 GPR15 2838 genome.wustl.edu 37 3 98251333 98251333 + Silent SNP A A G novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_005290.1 +1 provisional p.V152 0.003 70 0% 117 37.6% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CD96 10225 genome.wustl.edu 37 3 111298034 111298034 + Missense_Mutation SNP T T C novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_198196.2 +1 reviewed p.V251A 0.001 278 0% 289 31.8% 0 - possibly_damaging(0.907) tolerated(0.11) deleterious(0.632) HMMSmart_SM00409,superfamily_Immunoglobulin PLXNA1 5361 genome.wustl.edu 37 3 126748834 126748834 + Missense_Mutation SNP T T C novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_032242.3 +1 validated p.L1640P 0.993 12 0% 12 41.7% 11 45.4% benign(0.003) tolerated(0.31) neutral(0.027) superfamily_GTPase activation domain GAP,HMMPfam_Plexin_cytopl ARMC8 25852 genome.wustl.edu 37 3 137964076 137964076 + Silent SNP A A G novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d ENST00000469860 +1 known p.S110G 1.000 40 0% 49 28.6% 1 100% - - - NULL CLSTN2 64084 genome.wustl.edu 37 3 140140113 140140114 + Frame_Shift_Ins INS - - A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_022131.2 +1 validated p.D263fs 1.000:1.000 - - - - - - - - - NULL PHC3 80012 genome.wustl.edu 37 3 169815044 169815044 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_024947.3 -1 validated p.R988C 1.000 422 0% 431 33.4% 2 0% possibly_damaging(0.929) deleterious(0) deleterious(0.821) HMMPfam_SAM_1,HMMSmart_SM00454,superfamily_SAM/Pointed domain LRRC15 131578 genome.wustl.edu 37 3 194080099 194080099 + Silent SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001135057.2 -1 validated p.C564 1.000 61 0% 50 34% 0 - - - - NULL GP5 2814 genome.wustl.edu 37 3 194118451 194118451 + Missense_Mutation SNP C C A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_004488.2 -1 validated p.K187N 0.000 96 0% 136 25% 0 - benign(0.167) tolerated(0.29) neutral(0.044) HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058 PCGF3 10336 genome.wustl.edu 37 4 727528 727528 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_006315.4 +1 reviewed p.C20Y 1.000 24 0% 25 32% 5 80% possibly_damaging(0.854) deleterious(0.02) deleterious(0.712) HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_RING/U-box KIAA0232 9778 genome.wustl.edu 37 4 6826396 6826396 + Nonsense_Mutation SNP C C G novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001100590.1 +1 validated p.Y72* 1.000 84 0% 127 28.3% 3 0% - - - NULL RBM47 54502 genome.wustl.edu 37 4 40438505 40438505 + Missense_Mutation SNP T T A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001098634.1 -1 validated p.N428I 0.998 115 0% 156 31.4% 8 25% benign(0.341) deleterious(0) deleterious(0.552) NULL RBM47 54502 genome.wustl.edu 37 4 40440652 40440652 + Silent SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001098634.1 -1 validated p.L87 1.000 11 0% 21 33.3% 2 100% - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD LIMCH1 22998 genome.wustl.edu 37 4 41648508 41648509 + Frame_Shift_Del DEL GA GA - novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_014988.2 +1 validated p.E425fs 0.997:1.000 - - - - - - - - - NULL SLC30A9 10463 genome.wustl.edu 37 4 42003634 42003634 + Missense_Mutation SNP G G C novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_006345.3 +1 validated p.E37D 0.996 202 0% 183 25.7% 4 0% possibly_damaging(0.791) tolerated(0.68) neutral(0.298) NULL FRYL 285527 genome.wustl.edu 37 4 48545845 48545845 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d ENST00000514617 -1 known p.G727R 0.966 210 0% 172 33.1% 1 100% - - - NULL REST 5978 genome.wustl.edu 37 4 57797394 57797394 + Missense_Mutation SNP G G T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_005612.3 +1 reviewed p.K790N 0.001 523 0% 370 30.3% 1 100% benign(0.059) deleterious(0.01) neutral(0.410) NULL MIR1269A 100302177 genome.wustl.edu 37 4 67142610 67142610 + RNA SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d ENST00000408636 +1 known NULL 0.009 50 0% 69 40.6% 0 - - - - - SULT1B1 27284 genome.wustl.edu 37 4 70599966 70599966 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_014465.3 -1 reviewed p.R131H 1.000 56 0% 68 26.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sulfotransfer_1,superfamily_SSF52540 AMBN 258 genome.wustl.edu 37 4 71467365 71467365 + Missense_Mutation SNP G G T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_016519.4 +1 reviewed p.K175N 0.000 295 0% 303 32% 0 - benign(0.029) tolerated(0.4) neutral(0.018) HMMPfam_Amelin,HMMSmart_SM00817 AREG 374 genome.wustl.edu 37 4 75314797 75314797 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001657.2 +1 reviewed p.T115M 0.987 76 0% 64 26.6% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL SEC24B 10427 genome.wustl.edu 37 4 110384141 110384141 + Missense_Mutation SNP A A G novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_006323.2 +1 reviewed p.Q73R 1.000 216 0.5% 226 25.2% 0 - possibly_damaging(0.797) deleterious(0.03) deleterious(0.664) NULL SEC24B 10427 genome.wustl.edu 37 4 110433119 110433119 + Missense_Mutation SNP C C G novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_006323.2 +1 reviewed p.P595A 1.000 192 0% 153 27.5% 3 33.3% probably_damaging(1) tolerated(0.08) deleterious(0.800) superfamily_Zn-finger domain of Sec23/24,superfamily_beta-sandwich domain of Sec23/24 RRH 10692 genome.wustl.edu 37 4 110757192 110757192 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_006583.2 +1 reviewed p.G143S 0.000 818 0% 848 35% 0 - benign(0) tolerated(0.71) neutral(0.002) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like TRPC3 7222 genome.wustl.edu 37 4 122853990 122853991 + Frame_Shift_Ins INS - - T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001130698.1 -1 validated p.N141fs 1.000:1.000 - - - - - - - - - HMMPfam_Ank,superfamily_ANK KIAA1109 84162 genome.wustl.edu 37 4 123225975 123225975 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d ENST00000419325 +1 known p.Y1127* 1.000 224 0% 221 31.7% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL ADAD1 132612 genome.wustl.edu 37 4 123301310 123301310 + Missense_Mutation SNP C C T rs13106730 TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_139243.3 +1 validated p.A29V 0.005 94 0% 122 29.5% 0 - benign(0.004) deleterious(0.05) neutral(0.345) NULL NUDT6 11162 genome.wustl.edu 37 4 123838797 123838797 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_007083.3 -1 validated p.Q101* 1.000 90 0% 104 35.6% 0 - - - - NULL TBC1D9 23158 genome.wustl.edu 37 4 141543676 141543676 + Silent SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_015130.2 -1 validated p.D1158 0.998 42 0% 62 25.8% 13 38.4% - - - NULL TBC1D9 23158 genome.wustl.edu 37 4 141590856 141590856 + Missense_Mutation SNP G G T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_015130.2 -1 validated p.P457T 1.000 40 0% 47 27.7% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL FBXW7 55294 genome.wustl.edu 37 4 153247168 153247168 + Missense_Mutation SNP T T C novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_033632.2 -1 reviewed p.Y545C 1.000 170 0% 191 36.1% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 FBXW7 55294 genome.wustl.edu 37 4 153303342 153303342 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001013415.1 -1 reviewed p.R49Q 1.000 133 0% 148 33.1% 0 - benign(0.003) tolerated(0.16) neutral(0.059) NULL RAPGEF2 9693 genome.wustl.edu 37 4 160268128 160268128 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d ENST00000510253 +1 known p.P101L 0.001 201 0% 207 35.3% 1 0% - - - NULL MARCH1 55016 genome.wustl.edu 37 4 164449941 164449941 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_017923.3 -1 validated p.P260S 0.446 129 0% 101 39.6% 0 - benign(0.039) tolerated(0.6) neutral(0.006) NULL SNX25 83891 genome.wustl.edu 37 4 186272627 186272627 + Missense_Mutation SNP A A G novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_031953.2 +1 validated p.Q613R 1.000 266 0% 207 30% 4 50% probably_damaging(0.965) tolerated(0.54) neutral(0.414) HMMPfam_PX,HMMSmart_PX,superfamily_PX SDHA 6389 genome.wustl.edu 37 5 251539 251539 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_004168.2 +1 reviewed p.A584T 1.000 20 0% 36 19.4% 40 42.5% possibly_damaging(0.946) tolerated(0.09) deleterious(0.686) HMMPfam_Succ_DH_flav_C,superfamily_Succinate dehydrogenase/fumarate reductase flavoprotein C-terminal domain TRIP13 9319 genome.wustl.edu 37 5 908178 908178 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_004237.3 +1 reviewed p.L250 1.000 93 0% 127 29.1% 8 25% - - - HMMSmart_SM00382,HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases ADAMTS16 170690 genome.wustl.edu 37 5 5239990 5239990 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_139056.2 +1 reviewed p.P825 0.009 162 0% 225 32% 0 - - - - HMMPfam_ADAM_spacer1 MRPS30 10884 genome.wustl.edu 37 5 44815068 44815068 + Missense_Mutation SNP A A G novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_016640.3 +1 reviewed p.T362A 1.000 195 0% 331 31.1% 24 50% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMPfam_PDCD9 ITGA1 3672 genome.wustl.edu 37 5 52183669 52183669 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_181501.1 +1 reviewed p.R266W 1.000 169 0% 166 42.2% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300,superfamily_SSF69318 ANKRD55 79722 genome.wustl.edu 37 5 55479392 55479392 + Missense_Mutation SNP A A C novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_024669.2 -1 validated p.L43R 1.000 177 0% 160 25% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_ANK,superfamily_ANK RAB3C 115827 genome.wustl.edu 37 5 58120941 58120941 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_138453.2 +1 provisional p.E150K 1.000 294 0% 261 31.8% 0 - possibly_damaging(0.569) tolerated(1) neutral(0.195) HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 MAST4 375449 genome.wustl.edu 37 5 66459517 66459517 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_015183.2 +1 validated p.P1315S 0.999 5 0.000 12 0.333 1 100% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL PIK3R1 5295 genome.wustl.edu 37 5 67589582 67589602 + In_Frame_Del DEL TTACATGAATATAACACTCAG TTACATGAATATAACACTCAG - novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 TTACATGAATATAACACTCAG TTACATGAATATAACACTCAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_181523.1 +1 reviewed p.LHEYNTQ449in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 - - - - - - - - - NULL RASGRF2 5924 genome.wustl.edu 37 5 80363895 80363895 + Missense_Mutation SNP A A G novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_006909.1 +1 validated p.Y147C 1.000 149 0% 155 34.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL NREP 9315 genome.wustl.edu 37 5 111066690 111066690 + Silent SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001142475.1 -1 validated p.N89 0.001 245 0% 207 36.2% 20 35% - - - NULL MCC 4163 genome.wustl.edu 37 5 112363113 112363113 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001085377.1 -1 reviewed p.S982 0.381 157 0% 220 31.4% 1 0% - - - HMMPfam_MCC-bdg_PDZ RAPGEF6 51735 genome.wustl.edu 37 5 130764605 130764605 + Silent SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_016340.5 -1 validated p.S1590 1.000 115 0% 127 38.6% 0 - - - - NULL C5orf15 56951 genome.wustl.edu 37 5 133292622 133292622 + Missense_Mutation SNP T T A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_020199.2 -1 validated p.E242D 0.999 136 0% 220 37.7% 12 41.6% possibly_damaging(0.862) tolerated(0.17) neutral(0.392) NULL H2AFY 9555 genome.wustl.edu 37 5 134705832 134705832 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_138610.2 -1 reviewed p.A58V 1.000 14 0% 15 26.7% 55 38.1% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_SM00414,HMMPfam_Histone,superfamily_Histone-fold IK 3550 genome.wustl.edu 37 5 140032593 140032594 + Frame_Shift_Del DEL GA GA - novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_006083.3 +1 reviewed p.R93fs 1.000:1.000 - - - - - - - - - HMMPfam_RED_N PCDHA6 56142 genome.wustl.edu 37 5 140209586 140209586 + Missense_Mutation SNP T T C novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_018909.2 +1 reviewed p.L637P 0.190 30 0% 41 34.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHB7 56129 genome.wustl.edu 37 5 140553265 140553265 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_018940.2 +1 reviewed p.Y283 0.573 69 0% 111 36.9% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHB15 56121 genome.wustl.edu 37 5 140626805 140626805 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_018935.2 +1 reviewed p.D553 0.998 55 0% 74 21.6% 0 - - - - HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin PCDHGA8 9708 genome.wustl.edu 37 5 140773940 140773940 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_032088.1 +1 reviewed p.F520 0.981 45 0% 70 28.6% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like ARAP3 64411 genome.wustl.edu 37 5 141035240 141035240 + Missense_Mutation SNP G G T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_022481.5 -1 reviewed p.P1353H 1.000 51 0% 31 38.7% 7 14.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TCERG1 10915 genome.wustl.edu 37 5 145834648 145834648 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_006706.3 +1 reviewed p.R30Q 1.000 113 0% 148 35.1% 1 100% unknown(0) deleterious(0.03) - NULL GRPEL2 134266 genome.wustl.edu 37 5 148730622 148730622 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_152407.3 +1 validated p.A152V 1.000 157 0% 181 28.2% 3 0% possibly_damaging(0.901) tolerated(0.22) neutral(0.399) HMMPfam_GrpE SYNPO 11346 genome.wustl.edu 37 5 150027947 150027947 + Missense_Mutation SNP T T C novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_007286.5 +1 validated p.L37P 0.997 197 0% 244 29.1% 5 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL GEMIN5 25929 genome.wustl.edu 37 5 154316705 154316705 + Silent SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_015465.3 -1 validated p.G69 1.000 128 0% 144 40.3% 0 - - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 PANK3 79646 genome.wustl.edu 37 5 167986125 167986125 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_024594.2 -1 reviewed p.R325H 1.000 54 0% 51 43.1% 4 50% possibly_damaging(0.847) deleterious(0) deleterious(0.770) HMMPfam_Fumble,superfamily_SSF53067 SLIT3 6586 genome.wustl.edu 37 5 168671719 168671719 + Silent SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_003062.2 -1 validated p.L111 1.000 157 0% 112 32.1% 0 - - - - HMMSmart_SM00369,HMMSmart_SM00364,HMMSmart_SM00365,superfamily_L domain-like BPHL 670 genome.wustl.edu 37 6 3127638 3127638 + Missense_Mutation SNP T T G novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_004332.2 +1 reviewed p.M125R 1.000 170 0% 244 27% 10 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Abhydrolase_1,superfamily_alpha/beta-Hydrolases LOC100287622 100287622 genome.wustl.edu 37 6 5999287 5999287 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d XM_002342600.1 +1 model p.P67L 1.000 33 0% 53 41.5% 33 60.6% - - - NULL PRRC2A 7916 genome.wustl.edu 37 6 31604302 31604302 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_080686.2 +1 reviewed p.P1951S 1.000 259 0% 292 38.7% 146 42.4% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL TNXB 7148 genome.wustl.edu 37 6 32057146 32057146 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_019105.6 -1 reviewed p.A790V 0.000 14 0% 17 47.1% 0 - benign(0) tolerated(0.59) neutral(0.004) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III ITPR3 3710 genome.wustl.edu 37 6 33638467 33638467 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_002224.2 +1 validated p.A821T 0.551 44 0% 47 25.5% 2 0% benign(0.006) tolerated(0.66) neutral(0.003) NULL FKBP5 2289 genome.wustl.edu 37 6 35544775 35544775 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001145775.1 -1 reviewed p.A421V 0.991 170 0% 151 32.5% 2 0% benign(0.041) tolerated(0.18) neutral(0.059) superfamily_TPR-like MDGA1 266727 genome.wustl.edu 37 6 37606349 37606349 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_153487.3 -1 validated p.Q877 1.000 50 0% 35 48.6% 1 0% - - - HMMPfam_MAM,HMMSmart_SM00137 DAAM2 23500 genome.wustl.edu 37 6 39824206 39824206 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_015345.2 +1 validated p.P43L 1.000 11 0% 11 36.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Drf_GBD ZNF318 24149 genome.wustl.edu 37 6 43307205 43307205 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_014345.2 -1 validated p.A1511T 0.439 326 0% 86 50% 0 - benign(0.001) tolerated(0.88) - NULL TJAP1 93643 genome.wustl.edu 37 6 43473138 43473138 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_080604.2 +1 reviewed p.E397K 1.000 35 0% 41 43.9% 4 75% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CAPN11 11131 genome.wustl.edu 37 6 44145043 44145043 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_007058.3 +1 reviewed p.D434 0.632 51 0% 40 42.5% 0 - - - - HMMPfam_Calpain_III,HMMSmart_calpain_III,superfamily_Peptidase_C2 EFHC1 114327 genome.wustl.edu 37 6 52319010 52319010 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_018100.3 +1 reviewed p.R281W 1.000 110 0% 159 31.4% 6 66.6% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) HMMSmart_SM00676,HMMPfam_DUF1126 ENSG00000214636 0 genome.wustl.edu 37 6 52522321 52522321 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d ENST00000398711 +1 known p.R40* 0.932 31 0% 32 31.2% 0 - - - - HMMPfam_SH3BGR,superfamily_Thiordxn-like_fd PNRC1 10957 genome.wustl.edu 37 6 89793612 89793612 + Silent SNP T T A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_006813.2 +1 validated p.S227 1.000 115 0.9% 106 42.5% 32 46.8% - - - NULL MAP3K7 6885 genome.wustl.edu 37 6 91266291 91266291 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_145331.1 -1 reviewed p.A179T 1.000 150 0% 200 31.5% 3 0% possibly_damaging(0.764) deleterious(0.04) deleterious(0.632) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase UFL1 23376 genome.wustl.edu 37 6 97001300 97001300 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_015323.4 +1 validated p.R769H 0.974 105 0% 117 33.3% 4 0% probably_damaging(0.99) tolerated(0.06) deleterious(0.764) NULL AIM1 202 genome.wustl.edu 37 6 106968434 106968434 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001624.2 +1 validated p.S709 0.003 131 0% 114 29.8% 1 0% - - - NULL GOPC 57120 genome.wustl.edu 37 6 117923195 117923195 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_020399.2 -1 validated p.S86F 1.000 34 0% 50 52% 2 50% benign(0) tolerated(0.14) neutral(0.249) NULL RSPO3 84870 genome.wustl.edu 37 6 127517128 127517128 + Silent SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_032784.3 +1 reviewed p.S265 1.000 149 0% 196 27% 0 - - - - NULL LAMA2 3908 genome.wustl.edu 37 6 129465146 129465146 + Missense_Mutation SNP G G T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_000426.3 +1 reviewed p.R247M 1.000 192 0% 208 36.1% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Laminin_N,HMMSmart_LamNT,superfamily_Gal_bind_like CTGF 1490 genome.wustl.edu 37 6 132270412 132270412 + Missense_Mutation SNP T T C novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001901.2 -1 reviewed p.M348V 1.000 99 0% 119 28.6% 36 36.1% possibly_damaging(0.663) deleterious(0.02) deleterious(0.617) NULL SGK1 6446 genome.wustl.edu 37 6 134491990 134491992 + In_Frame_Del DEL TCT TCT - novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001143676.1 -1 reviewed p.K462in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMSmart_S_TK_X,superfamily_Kinase_like SHPRH 257218 genome.wustl.edu 37 6 146262922 146262922 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001042683.2 -1 validated p.R776H 1.000 104 0% 86 24.4% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_SNF2_N,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases C6orf97 80129 genome.wustl.edu 37 6 151917544 151917546 + In_Frame_Del DEL GGA GGA - novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 GGA GGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_025059.3 +1 validated p.E517in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL IGF2R 3482 genome.wustl.edu 37 6 160494461 160494463 + In_Frame_Del DEL TCT TCT - novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_000876.2 +1 reviewed p.F1638in_frame_del 0.984:1.000:1.000 - - - - - - - - - HMMPfam_CIMR,superfamily_Mannose 6-phosphate receptor domain MAP3K4 4216 genome.wustl.edu 37 6 161528972 161528972 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_005922.2 +1 reviewed p.D1364N 1.000 57 0% 67 43.3% 4 0% probably_damaging(1) tolerated(0.9) deleterious(0.500) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase QKI 9444 genome.wustl.edu 37 6 163956131 163956131 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_006775.2 +1 validated p.E174K 1.000 237 0% 233 29.2% 3 33.3% possibly_damaging(0.725) tolerated(0.65) neutral(0.267) HMMSmart_SM00322,superfamily_Eukaryotic type KH-domain (KH-domain type I) RPS6KA2 6196 genome.wustl.edu 37 6 166831780 166831780 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001006932.1 -1 reviewed p.A632V 1.000 76 1.3% 75 28% 0 - benign(0) tolerated(0.25) neutral(0.037) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase WIPI2 26100 genome.wustl.edu 37 7 5253988 5253988 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d ENST00000315176 +1 known p.R7Q 0.000 74 0% 45 28.9% 0 - unknown(0) - - NULL AIMP2 7965 genome.wustl.edu 37 7 6049016 6049016 + Missense_Mutation SNP C C A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_006303.3 +1 validated p.P8T 1.000 17 0% 16 75% 11 45.4% benign(0.26) deleterious(0.03) neutral(0.392) NULL C7orf70 84792 genome.wustl.edu 37 7 6370373 6370373 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001037163.1 -1 validated p.T138I 0.000 79 0% 63 44.4% 3 0% benign(0.051) deleterious(0) neutral(0.448) NULL LOC340268 340268 genome.wustl.edu 37 7 9767853 9767853 + RNA SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d XR_041608.1 +1 model NULL 1.000 10 0% 17 29.4% 0 - - - - - DNAH11 8701 genome.wustl.edu 37 7 21628211 21628211 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_003777.3 +1 reviewed p.R644* 0.978 250 0% 279 34.1% 0 - - - - HMMPfam_DHC_N1 OGDH 4967 genome.wustl.edu 37 7 44746917 44746917 + Missense_Mutation SNP A A G novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_002541.3 +1 reviewed p.Y909C 1.000 69 0% 61 24.6% 33 36.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ABCA13 154664 genome.wustl.edu 37 7 48390269 48390269 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_152701.3 +1 reviewed p.A3412T 0.000 152 0.7% 143 30.1% 0 - benign(0) - - NULL POM121L12 285877 genome.wustl.edu 37 7 53104003 53104003 + Silent SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_182595.3 +1 validated p.R213 0.112 46 0% 58 31% 0 - - - - NULL ADAM22 53616 genome.wustl.edu 37 7 87759747 87759747 + Silent SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_021723.2 +1 reviewed p.A266 0.006 141 0% 197 34% 0 - - - - "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" SAMD9L 219285 genome.wustl.edu 37 7 92761723 92761723 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_152703.2 -1 validated p.R1188* 0.010 624 0% 992 34.7% 5 40% - - - NULL PEG10 23089 genome.wustl.edu 37 7 94293620 94293620 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001040152.1 +1 reviewed p.R251H 0.068 28 0% 34 50% 0 - probably_damaging(0.973) tolerated(0.12) deleterious(0.675) NULL PILRB 29990 genome.wustl.edu 37 7 99964997 99964997 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_013440.3 +1 reviewed p.F227 0.002 123 0% 95 31.6% 41 48.7% - - - NULL AGFG2 3268 genome.wustl.edu 37 7 100160514 100160514 + Silent SNP C C A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d ENST00000429987 +1 known p.P114Q 0.741 39 0% 49 30.6% 2 0% - - - NULL CFTR 1080 genome.wustl.edu 37 7 117180323 117180323 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_000492.3 +1 reviewed p.R347C 1.000 139 0.7% 205 23.4% 6 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain KCND2 3751 genome.wustl.edu 37 7 119915013 119915013 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_012281.2 +1 reviewed p.H109 0.882 97 0% 157 35.7% 0 - - - - HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain FLNC 2318 genome.wustl.edu 37 7 128483354 128483354 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001458.4 +1 reviewed p.G874 0.973 9 0.000 16 0.438 0 - - - - HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin PAXIP1 22976 genome.wustl.edu 37 7 154767932 154767932 + Missense_Mutation SNP G G T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_007349.3 -1 reviewed p.P183H 1.000 98 0% 107 40.2% 1 100% unknown(0) deleterious(0) - superfamily_BRCT domain TNKS 8658 genome.wustl.edu 37 8 9634228 9634228 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_003747.2 +1 validated p.A1322 0.020 87 0% 76 39.5% 4 50% - - - NULL PRSS55 203074 genome.wustl.edu 37 8 10396219 10396219 + Silent SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_198464.2 +1 validated p.S325 0.000 290 0.3% 385 40.8% 0 - - - - NULL FAM167A 83648 genome.wustl.edu 37 8 11282099 11282099 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_053279.2 -1 validated p.R143H 1.000 31 0% 21 52.4% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL KIAA1967 57805 genome.wustl.edu 37 8 22473644 22473644 + Frame_Shift_Del DEL G G - novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_021174.4 +1 validated p.E577fs 1.000 - - - - - - - - - NULL DPYSL2 1808 genome.wustl.edu 37 8 26501579 26501579 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001386.4 +1 validated p.R361Q 1.000 94 0% 83 38.6% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Amidohydro_1,superfamily_Composite domain of metallo-dependent hydrolases,superfamily_Metallo-dependent hydrolases TEX15 56154 genome.wustl.edu 37 8 30694679 30694679 + Missense_Mutation SNP A A G novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_031271.3 -1 validated p.Y2658H 0.104 235 0% 266 36.1% 0 - possibly_damaging(0.911) tolerated(0.11) deleterious(0.635) NULL HOOK3 84376 genome.wustl.edu 37 8 42841910 42841910 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_032410.3 +1 validated p.R502C 0.916 187 0% 249 22.9% 2 0% probably_damaging(0.968) deleterious(0.02) deleterious(0.793) HMMPfam_HOOK PI15 51050 genome.wustl.edu 37 8 75737548 75737548 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_015886.3 +1 reviewed p.V22I 0.033 577 0% 569 24.8% 0 - benign(0) tolerated(0.58) neutral(0.005) NULL HNF4G 3174 genome.wustl.edu 37 8 76456180 76456180 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_004133.4 +1 validated p.R75C 1.000 442 0.2% 429 33.1% 0 - probably_damaging(0.984) deleterious(0) deleterious(0.875) HMMPfam_zf-C4,HMMSmart_ZnF_C4,PatternScan_NUCLEAR_REC_DBD_1,superfamily_SSF57716 TPD52 7163 genome.wustl.edu 37 8 80976753 80976753 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001025252.1 -1 validated p.S72L 0.093 244 0% 350 33.1% 11 18.1% possibly_damaging(0.902) deleterious(0) deleterious(0.801) HMMPfam_TPD52 ATP6V0D2 245972 genome.wustl.edu 37 8 87125949 87125949 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_152565.1 +1 validated p.H48Y 1.000 357 0% 258 33.3% 1 0% probably_damaging(0.979) tolerated(0.09) deleterious(0.718) HMMPfam_vATP-synt_AC39,superfamily_ATPase_V0/A0_c/d KIAA1429 25962 genome.wustl.edu 37 8 95539346 95539346 + Missense_Mutation SNP A A G novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_015496.3 -1 validated p.S376P 1.000 437 0% 299 34.4% 0 - probably_damaging(0.959) tolerated(0.22) neutral(0.445) NULL CCNE2 9134 genome.wustl.edu 37 8 95893903 95893905 + In_Frame_Del DEL ATA ATA - novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 ATA ATA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_057749.1 -1 reviewed p.I390in_frame_del 1.000:0.998:0.921 - - - - - - - - - NULL ST3GAL1 6482 genome.wustl.edu 37 8 134472014 134472014 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_003033.3 -1 reviewed p.G339E 1.000 70 0% 87 19.5% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_transf_29 FLJ43860 389690 genome.wustl.edu 37 8 142504974 142504974 + Missense_Mutation SNP C C T rs150372378 by1000genomes TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_207414.2 -1 validated p.V158I 0.000 9 0.000 16 0.438 0 - benign(0.134) tolerated(0.69) neutral(0.013) NULL LY6K 54742 genome.wustl.edu 37 8 143783116 143783116 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_017527.3 +1 validated p.V126I 0.000 18 0% 17 47.1% 14 0% possibly_damaging(0.792) - - superfamily_Snake toxin-like C9orf93 203238 genome.wustl.edu 37 9 15745572 15745574 + In_Frame_Del DEL CTT CTT - novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_173550.2 +1 predicted p.L873in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL C9orf93 203238 genome.wustl.edu 37 9 15745626 15745626 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_173550.2 +1 predicted p.A890T 1.000 469 0% 561 35.3% 0 - benign(0) tolerated(0.8) neutral(0.001) NULL ELAVL2 1993 genome.wustl.edu 37 9 23704957 23704957 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_004432.3 -1 reviewed p.G149E 1.000 291 0% 284 32.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD NFX1 4799 genome.wustl.edu 37 9 33347103 33347103 + Frame_Shift_Del DEL G G - novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_002504.3 +1 reviewed p.G805fs 1.000 - - - - - - - - - NULL TRBV25OR9-2 6960 genome.wustl.edu 37 9 33662478 33662478 + Missense_Mutation SNP T T C novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d ENST00000438417 +1 known p.Y52H 0.998 337 0% 285 35.4% 0 - probably_damaging(0.988) deleterious(0.03) deleterious(0.802) superfamily_Immunoglobulin DNAI1 27019 genome.wustl.edu 37 9 34506703 34506703 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_012144.2 +1 reviewed p.S381N 1.000 49 0% 61 23% 1 0% benign(0.002) tolerated(1) - HMMSmart_WD40,superfamily_WD40_like IL11RA 3590 genome.wustl.edu 37 9 34657098 34657098 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001142784.1 +1 reviewed p.S133N 1.000 146 0% 127 40.9% 3 33.3% possibly_damaging(0.819) tolerated(0.42) neutral(0.324) HMMSmart_SM00060,superfamily_Fibronectin type III MSMP 692094 genome.wustl.edu 37 9 35753674 35753674 + Silent SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001044264.1 -1 provisional p.G74 0.993 44 0% 47 23.4% 4 0% - - - NULL RECK 8434 genome.wustl.edu 37 9 36118808 36118809 + Frame_Shift_Ins INS - - GT novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_021111.2 +1 reviewed p.A773fs 0.883:0.868 - - - - - - - - - HMMSmart_SM00280,HMMPfam_Kazal_2,superfamily_Kazal-type serine protease inhibitors FRMPD1 22844 genome.wustl.edu 37 9 37735655 37735655 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_014907.2 +1 validated p.A442V 1.000 165 0% 156 35.3% 0 - possibly_damaging(0.527) tolerated(0.11) neutral(0.450) NULL FAM122A 116224 genome.wustl.edu 37 9 71395787 71395788 + Frame_Shift_Del DEL GT GT - novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 GT GT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_138333.3 +1 validated p.V239fs 0.152:0.077 - - - - - - - - - NULL ALDH1A1 216 genome.wustl.edu 37 9 75545819 75545819 + Silent SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_000689.3 -1 reviewed p.I96 0.991 154 0% 224 36.6% 19 21% - - - HMMPfam_Aldedh,superfamily_ALDH-like AGTPBP1 23287 genome.wustl.edu 37 9 88233965 88233965 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_015239.2 -1 validated p.M716I 1.000 88 0% 101 32.7% 3 0% benign(0.39) deleterious(0.03) deleterious(0.489) NULL ZNF782 158431 genome.wustl.edu 37 9 99580912 99580912 + Missense_Mutation SNP G G T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001001662.1 -1 provisional p.L465I 0.998 746 0.1% 744 25.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CTSL2 1515 genome.wustl.edu 37 9 99798927 99798927 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001333.2 -1 reviewed p.V167M 1.000 92 0% 108 40.7% 24 37.5% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_Peptidase_C1,HMMSmart_Pept_C1,superfamily_SSF54001 XPA 7507 genome.wustl.edu 37 9 100437818 100437818 + Missense_Mutation SNP T T A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_000380.3 -1 reviewed p.H242L 1.000 85 0% 109 29.4% 6 16.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CYLC2 1539 genome.wustl.edu 37 9 105767444 105767444 + Missense_Mutation SNP A A T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001340.3 +1 reviewed p.E177D 0.534 465 0% 399 34.8% 0 - unknown(0) tolerated(0.29) - NULL SLC44A1 23446 genome.wustl.edu 37 9 108118592 108118592 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_080546.3 +1 validated p.V200 1.000 198 0% 261 32.6% 2 100% - - - NULL RPL35 11224 genome.wustl.edu 37 9 127620293 127620293 + Silent SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_007209.3 -1 reviewed p.R92 1.000 8 0.000 15 0.400 1454 51.3% - - - NULL ZBTB34 403341 genome.wustl.edu 37 9 129642988 129642988 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001099270.1 +1 validated p.C433Y 1.000 49 0% 43 25.6% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF79 7633 genome.wustl.edu 37 9 130207396 130207396 + Missense_Mutation SNP T T A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_007135.2 +1 validated p.Y473N 0.820 362 0% 332 41.6% 5 0% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 METTL11A 28989 genome.wustl.edu 37 9 132397697 132397697 + Missense_Mutation SNP A A T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_014064.2 +1 validated p.N209I 1.000 22 0% 31 45.2% 18 27.7% benign(0.3) tolerated(0.12) neutral(0.354) HMMPfam_DUF858,superfamily_SSF53335 USP20 10868 genome.wustl.edu 37 9 132636948 132636948 + Missense_Mutation SNP C C A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001008563.3 +1 validated p.L612M 1.000 25 0% 36 38.9% 4 25% possibly_damaging(0.565) tolerated(1) neutral(0.193) HMMPfam_UCH,superfamily_SSF54001 C9orf86 55684 genome.wustl.edu 37 9 139726288 139726288 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_024718.4 +1 validated p.R192C 1.000 9 0.000 12 0.417 25 44% unknown(0) deleterious(0.01) - HMMSmart_SM00175,superfamily_P-loop containing nucleoside triphosphate hydrolases PFKP 5214 genome.wustl.edu 37 10 3176690 3176690 + Missense_Mutation SNP C C G novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_002627.3 +1 validated p.P680A 1.000 161 0% 331 22.7% 83 24% probably_damaging(0.984) tolerated(0.06) deleterious(0.753) HMMPfam_PFK,superfamily_Phosphofructokinase,PatternScan_PHOSPHOFRUCTOKINASE RBM17 84991 genome.wustl.edu 37 10 6154289 6154289 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001145547.1 +1 reviewed p.G274D 1.000 24 0% 35 31.4% 29 27.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_G-patch,HMMSmart_SM00443 SFMBT2 57713 genome.wustl.edu 37 10 7218058 7218058 + Silent SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001029880.1 -1 provisional p.C626 1.000 204 0% 203 27.1% 0 - - - - NULL SEPHS1 22929 genome.wustl.edu 37 10 13370373 13370373 + Silent SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_012247.3 -1 reviewed p.N243 0.971 142 0% 196 21.9% 43 16.2% - - - HMMPfam_AIRS_C,superfamily_PurM C-terminal domain-like C1QL3 389941 genome.wustl.edu 37 10 16562570 16562570 + Silent SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001010908.1 -1 validated p.C165 1.000 11 0% 36 44.4% 0 - - - - HMMPfam_C1q,HMMSmart_SM00110,superfamily_TNF-like DNAJC1 64215 genome.wustl.edu 37 10 22048223 22048223 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_022365.3 -1 provisional p.R491Q 0.012 111 0.9% 215 27% 36 16.6% benign(0.097) tolerated(0.31) neutral(0.035) NULL MASTL 84930 genome.wustl.edu 37 10 27459301 27459301 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_032844.3 +1 reviewed p.N471 0.005 156 0% 178 24.7% 3 33.3% - - - superfamily_Kinase_like PTCHD3 374308 genome.wustl.edu 37 10 27702635 27702635 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001034842.3 -1 validated p.R182Q 0.207 32 0% 74 24.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Patched MPP7 143098 genome.wustl.edu 37 10 28378641 28378641 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_173496.3 -1 validated p.R361Q 1.000 273 0% 413 22.5% 2 50% benign(0.026) tolerated(0.54) neutral(0.009) superfamily_SSF52540 ANKRD30A 91074 genome.wustl.edu 37 10 37419199 37419199 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_052997.2 +1 validated p.V79I 0.000 55 0% 104 23.1% 0 - benign(0) tolerated(0.15) neutral(0.241) PatternScan_ASP_PROTEASE,HMMPfam_Ank,superfamily_Ankyrin repeat VSTM4 196740 genome.wustl.edu 37 10 50315780 50315780 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001031746.3 -1 validated p.R106W 0.003 52 0% 95 20% 0 - possibly_damaging(0.544) deleterious(0.02) deleterious(0.568) HMMSmart_SM00409,superfamily_Immunoglobulin PCDH15 65217 genome.wustl.edu 37 10 55566601 55566601 + Missense_Mutation SNP A A G novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001142771.1 -1 reviewed p.L1596S 0.094 510 0% 854 23.8% 0 - benign(0) deleterious(0) neutral(0.445) NULL MYPN 84665 genome.wustl.edu 37 10 69881344 69881344 + Missense_Mutation SNP C C G novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_032578.2 +1 validated p.A50G 1.000 142 0% 136 24.3% 0 - benign(0.27) deleterious(0.05) neutral(0.374) NULL MYPN 84665 genome.wustl.edu 37 10 69902806 69902806 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_032578.2 +1 validated p.R338C 1.000 280 0% 275 29.8% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin UNC5B 219699 genome.wustl.edu 37 10 73053193 73053193 + Missense_Mutation SNP A A G novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_170744.3 +1 validated p.S602G 1.000 91 0% 108 16.7% 6 33.3% probably_damaging(0.999) tolerated(0.21) deleterious(0.534) HMMPfam_ZU5,HMMSmart_SM00218 MCU 90550 genome.wustl.edu 37 10 74619090 74619090 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_138357.1 +1 provisional p.A126T 1.000 532 0% 732 24% 6 0% benign(0.006) tolerated(0.3) neutral(0.029) HMMPfam_DUF607 ANXA7 310 genome.wustl.edu 37 10 75139867 75139867 + Silent SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_004034.2 -1 reviewed p.T359 0.922 999 0% 1187 24.6% 62 29% - - - superfamily_Annexin,PatternScan_ANNEXIN,HMMPfam_Annexin,HMMSmart_SM00335 PTEN 5728 genome.wustl.edu 37 10 89720741 89720741 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d ENST00000371953 +1 known p.Q298* 1.000 316 0.3% 401 78.3% 18 72.2% - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 HTR7 3363 genome.wustl.edu 37 10 92616932 92616932 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_019859.3 -1 reviewed p.C166Y 1.000 11 0% 25 32% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ABCC2 1244 genome.wustl.edu 37 10 101559079 101559079 + Missense_Mutation SNP T T C novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_000392.3 +1 reviewed p.L328P 0.977 905 0% 947 23.4% 1 0% possibly_damaging(0.942) deleterious(0.01) deleterious(0.792) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain PPRC1 23082 genome.wustl.edu 37 10 103899212 103899212 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_015062.3 +1 reviewed p.C316Y 1.000 81 0% 115 33.9% 2 0% benign(0.121) deleterious(0) neutral(0.454) NULL PDCD11 22984 genome.wustl.edu 37 10 105184985 105184985 + Missense_Mutation SNP T T C novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_014976.1 +1 validated p.M1003T 0.087 117 0% 141 24.1% 3 66.6% benign(0.003) tolerated(0.78) neutral(0.001) NULL SORCS1 114815 genome.wustl.edu 37 10 108366977 108366977 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001013031.1 -1 reviewed p.P1038S 1.000 134 0% 156 29.5% 0 - benign(0.294) deleterious(0.04) neutral(0.440) NULL TCF7L2 6934 genome.wustl.edu 37 10 114901026 114901026 + Silent SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_030756.4 +1 reviewed p.T189 0.995 198 0% 255 29.8% 4 25% - - - HMMPfam_CTNNB1_binding ATRNL1 26033 genome.wustl.edu 37 10 117026389 117026389 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_207303.2 +1 validated p.G630R 1.000 136 0% 288 18.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00423,superfamily_Plexin repeat KRTAP5-6 440023 genome.wustl.edu 37 11 1718786 1718786 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001012416.1 +1 validated p.C104Y 0.985 150 0% 154 40.3% 0 - unknown(0) deleterious(0.04) - PatternScan_VWFC_1 FAM160A2 84067 genome.wustl.edu 37 11 6244358 6244358 + Silent SNP G G T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_032127.3 -1 validated p.A296 0.840 373 0% 357 38.1% 6 16.6% - - - HMMPfam_RAI16-like MRGPRX3 117195 genome.wustl.edu 37 11 18158964 18158964 + Missense_Mutation SNP A A G novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_054031.3 +1 reviewed p.D72G 0.998 131 0% 196 32.1% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like NAV2 89797 genome.wustl.edu 37 11 20078094 20078094 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d ENST00000396087 +1 known p.S1640F 0.000 81 0% 67 34.3% 0 - benign(0.133) tolerated(0.09) neutral(0.307) NULL CAPRIN1 4076 genome.wustl.edu 37 11 34110996 34110996 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_005898.4 +1 validated p.A429V 1.000 82 0% 72 26.4% 16 37.5% possibly_damaging(0.538) tolerated(0.2) neutral(0.231) NULL OR5D13 390142 genome.wustl.edu 37 11 55541737 55541737 + Missense_Mutation SNP T T C novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001001967.1 +1 provisional p.V275A 0.004 260 0% 250 35.2% 0 - possibly_damaging(0.527) deleterious(0.01) deleterious(0.584) HMMPfam_7tm_1,superfamily_SSF81321 CTNND1 1500 genome.wustl.edu 37 11 57564239 57564239 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001085458.1 +1 validated p.S244N 1.000 169 0% 169 30.8% 6 0% probably_damaging(0.964) tolerated(0.31) neutral(0.433) NULL OR9I1 219954 genome.wustl.edu 37 11 57886332 57886332 + Silent SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001005211.1 -1 validated p.I195 0.000 174 0% 191 26.2% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 DAK 26007 genome.wustl.edu 37 11 61113950 61113950 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_015533.3 +1 reviewed p.A568V 1.000 30 0% 25 32% 27 55.5% unknown(0) deleterious(0.01) - HMMPfam_Dak2,superfamily_Citrobacter dihydroxyacetone kinase extra ATP-binding domain TUT1 64852 genome.wustl.edu 37 11 62349083 62349083 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_022830.2 -1 reviewed p.R122C 0.974 33 0% 36 25% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD ROM1 6094 genome.wustl.edu 37 11 62382116 62382116 + Silent SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_000327.3 +1 reviewed p.R287 1.000 51 0% 44 20.5% 6 33.3% unknown(0) - - HMMPfam_Tetraspannin SLC22A9 114571 genome.wustl.edu 37 11 63137718 63137718 + Missense_Mutation SNP A A G novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_080866.2 +1 validated p.T64A 0.026 315 0.3% 379 34.3% 0 - possibly_damaging(0.796) tolerated(0.15) deleterious(0.540) NULL ATG2A 23130 genome.wustl.edu 37 11 64684453 64684453 + Missense_Mutation SNP A A T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_015104.2 -1 validated p.I52N 1.000 5 0.000 12 0.417 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL LOC440043 440043 genome.wustl.edu 37 11 64942732 64942732 + RNA SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d XR_015843.3 -1 model NULL 0.998 192 0% 217 31.3% 8 12.5% - - - - SF3B2 10992 genome.wustl.edu 37 11 65831171 65831173 + In_Frame_Del DEL GAA GAA - novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_006842.2 +1 reviewed p.K770in_frame_del 0.999:1.000:1.000 - - - - - - - - - NULL MRPL11 65003 genome.wustl.edu 37 11 66204588 66204588 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_016050.3 -1 reviewed p.R154C 0.130 75 0% 108 41.7% 36 38.8% probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_Ribosomal_L11,HMMSmart_SM00649,superfamily_Ribosomal protein L11 C-terminal domain SPTBN2 6712 genome.wustl.edu 37 11 66460481 66460481 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_006946.2 -1 reviewed p.A1649T 1.000 72 0% 95 40% 6 50% benign(0.002) tolerated(0.41) neutral(0.015) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat IGHMBP2 3508 genome.wustl.edu 37 11 68703791 68703791 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_002180.2 +1 reviewed p.R615C 0.636 108 0% 107 29.9% 3 0% possibly_damaging(0.693) deleterious(0.01) deleterious(0.653) superfamily_P-loop containing nucleoside triphosphate hydrolases POLD3 10714 genome.wustl.edu 37 11 74336609 74336609 + Missense_Mutation SNP A A G novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_006591.1 +1 validated p.E297G 0.998 153 0% 125 28.8% 4 75% probably_damaging(0.977) deleterious(0) deleterious(0.863) HMMPfam_CDC27 KCTD21 283219 genome.wustl.edu 37 11 77885236 77885236 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001029859.1 -1 provisional p.T122M 0.446 100 0% 104 47.1% 0 - possibly_damaging(0.95) tolerated(0.24) neutral(0.431) NULL CCDC89 220388 genome.wustl.edu 37 11 85396653 85396653 + Missense_Mutation SNP G G T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_152723.1 -1 provisional p.A174E 0.959 258 0% 209 30.6% 2 0% benign(0.249) tolerated(1) neutral(0.025) NULL HTR3A 3359 genome.wustl.edu 37 11 113853984 113853984 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_213621.3 +1 reviewed p.L173 0.952 315 0% 289 36% 3 0% - - - HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD CBL 867 genome.wustl.edu 37 11 119170373 119170373 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_005188.2 +1 reviewed p.G868E 1.000 641 0% 613 35.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UBA,HMMSmart_UBA ARHGEF12 23365 genome.wustl.edu 37 11 120346178 120346182 + Frame_Shift_Del DEL TTAAG TTAAG - novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 TTAAG TTAAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_015313.1 +1 reviewed p.K1081fs 1.000:1.000:1.000:1.000:0.996 - - - - - - - - - HMMSmart_SM00233,superfamily_PH domain-like ARHGAP32 9743 genome.wustl.edu 37 11 128842407 128842407 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001142685.1 -1 validated p.P1318S 0.589 132 0% 147 45.6% 3 100% benign(0.014) tolerated(0.21) neutral(0.044) NULL ZBTB44 29068 genome.wustl.edu 37 11 130106776 130106776 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d ENST00000397753 -1 known p.A494T 1.000 18 0% 17 47.1% 1 100% probably_damaging(0.99) tolerated(0.15) deleterious(0.682) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers KDM5A 5927 genome.wustl.edu 37 12 432830 432830 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001042603.1 -1 reviewed p.R696W 1.000 132 0% 157 37.6% 0 - probably_damaging(0.993) tolerated(0.06) deleterious(0.772) HMMPfam_zf-C5HC2 WNK1 65125 genome.wustl.edu 37 12 1017742 1017742 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_018979.3 +1 reviewed p.T2311 1.000 107 0% 103 27.2% 14 35.7% - - - NULL ATN1 1822 genome.wustl.edu 37 12 7047786 7047786 + Missense_Mutation SNP G G C novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001007026.1 +1 reviewed p.S887T 1.000 99 0% 117 29.9% 75 41.3% possibly_damaging(0.444) deleterious(0) deleterious(0.590) HMMPfam_Atrophin-1 KLRB1 3820 genome.wustl.edu 37 12 9760353 9760353 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_002258.2 -1 reviewed p.R28Q 0.138 225 0% 201 37.8% 1 0% benign(0.018) tolerated(0.35) neutral(0.021) NULL GPRC5A 9052 genome.wustl.edu 37 12 13061997 13061997 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_003979.3 +1 reviewed p.R272* 0.310 275 0% 251 38.2% 14 7.1% - - - HMMPfam_7tm_3 GUCY2C 2984 genome.wustl.edu 37 12 14774035 14774035 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_004963.3 -1 validated p.T906I 1.000 189 0% 193 31.1% 1 0% probably_damaging(0.984) deleterious(0.01) deleterious(0.836) HMMPfam_Guanylate_cyc,HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain AMN1 196394 genome.wustl.edu 37 12 31862291 31862291 + Missense_Mutation SNP A A G novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001113402.1 -1 validated p.I36T 1.000 212 0% 228 39.9% 0 - possibly_damaging(0.795) deleterious(0.01) deleterious(0.704) NULL C12orf35 55196 genome.wustl.edu 37 12 32138766 32138766 + Missense_Mutation SNP A A T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_018169.3 +1 validated p.N1626I 0.000 117 0% 106 31.1% 13 38.4% benign(0.003) tolerated(0.17) neutral(0.059) NULL CPNE8 144402 genome.wustl.edu 37 12 39161536 39161536 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_153634.2 -1 reviewed p.A159V 1.000 179 0% 197 33% 1 0% benign(0) tolerated(1) - HMMSmart_C2,superfamily_C2_CaLB NELL2 4753 genome.wustl.edu 37 12 45059329 45059329 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001145107.1 -1 reviewed p.P511L 1.000 239 0% 215 43.7% 0 - possibly_damaging(0.917) tolerated(0.25) neutral(0.405) PatternScan_ASX_HYDROXYL,HMMSmart_EGF_CA,superfamily_ConA_like_lec_gl,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_SSF57196 PRPF40B 25766 genome.wustl.edu 37 12 50027226 50027226 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001031698.1 +1 provisional p.C137Y 1.000 360 0% 374 35.3% 4 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_WW,HMMSmart_SM00456,superfamily_WW domain KRT6C 286887 genome.wustl.edu 37 12 52862991 52862991 + Missense_Mutation SNP T T C novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_173086.4 -1 reviewed p.Y517C 0.859 106 0% 136 37.5% 9 44.4% unknown(0) tolerated(0.18) - NULL OR6C3 254786 genome.wustl.edu 37 12 55725804 55725804 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_054104.1 +1 provisional p.T107I 0.001 469 0% 484 31.8% 0 - possibly_damaging(0.688) deleterious(0.01) deleterious(0.651) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 GPR182 11318 genome.wustl.edu 37 12 57389789 57389789 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_007264.3 +1 reviewed p.V266I 0.984 171 0.6% 183 35% 1 0% benign(0.018) tolerated(0.11) neutral(0.272) HMMPfam_7tm_1,superfamily_SSF81321 NAB2 4665 genome.wustl.edu 37 12 57485292 57485292 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_005967.3 +1 reviewed p.R156 0.613 77 0% 57 40.4% 4 50% - - - NULL MBD6 114785 genome.wustl.edu 37 12 57919721 57919722 + Frame_Shift_Del DEL CT CT - novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_052897.3 +1 validated p.S325fs 1.000:1.000 - - - - - - - - - NULL CEP290 80184 genome.wustl.edu 37 12 88487606 88487606 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_025114.3 -1 reviewed p.R1084W 0.894 73 0% 49 36.7% 3 66.6% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) NULL SLC41A2 84102 genome.wustl.edu 37 12 105239709 105239709 + Silent SNP A A G novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_032148.3 -1 validated p.S433 1.000 113 0% 126 34.1% 1 0% - - - HMMPfam_MgtE TBX5 6910 genome.wustl.edu 37 12 114793313 114793313 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d ENST00000448888 -1 known p.H378Y 0.000 48 0% 47 31.9% 0 - unknown(0) - - NULL TBX5 6910 genome.wustl.edu 37 12 114803961 114803961 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_080718.1 -1 reviewed p.D331N 0.000 268 0% 243 28.4% 0 - benign(0.125) tolerated(0.25) neutral(0.048) NULL SRRM4 84530 genome.wustl.edu 37 12 119563191 119563191 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_194286.2 +1 validated p.R174Q 1.000 57 0% 56 35.7% 0 - unknown(0) tolerated(0.13) - NULL ATP12A 479 genome.wustl.edu 37 13 25283521 25283521 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001676.5 +1 reviewed p.A838V 1.000 32 0% 46 21.7% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Cation_ATPase_C,superfamily_Calcium ATPase transmembrane domain M GPR12 2835 genome.wustl.edu 37 13 27333009 27333009 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_005288.3 -1 validated p.C319Y 1.000 12 0% 17 35.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Family A G protein-coupled receptor-like GSX1 219409 genome.wustl.edu 37 13 28367883 28367883 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_145657.1 +1 provisional p.R198H 1.000 58 1.7% 59 45.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like,PatternScan_HOMEOBOX_1 ALOX5AP 241 genome.wustl.edu 37 13 31338107 31338107 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001629.2 +1 reviewed p.R117H 1.000 436 0% 364 32.7% 9 0% probably_damaging(0.999) tolerated(0.25) deleterious(0.527) HMMPfam_MAPEG POSTN 10631 genome.wustl.edu 37 13 38154760 38154760 + Silent SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_006475.2 -1 validated p.R489 0.992 226 0% 316 30.7% 4 0% - - - HMMPfam_Fasciclin,HMMSmart_SM00554,superfamily_FAS1 domain MRPS31 10240 genome.wustl.edu 37 13 41340976 41340976 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_005830.3 -1 reviewed p.R116* 0.661 196 0.5% 251 33.9% 5 20% - - - NULL NAA16 79612 genome.wustl.edu 37 13 41947888 41947888 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_024561.4 +1 validated p.N757 0.101 301 0% 334 36.5% 0 - - - - NULL VPS36 51028 genome.wustl.edu 37 13 53016551 53016553 + In_Frame_Del DEL AAG AAG - novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_016075.2 -1 validated p.L42in_frame_del 0.991:1.000:1.000 - - - - - - - - - NULL SLAIN1 122060 genome.wustl.edu 37 13 78320678 78320678 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001040153.2 +1 validated p.A75T 0.997 232 0% 282 27.7% 1 100% possibly_damaging(0.566) deleterious(0.01) deleterious(0.599) NULL MBNL2 10150 genome.wustl.edu 37 13 98009779 98009779 + Missense_Mutation SNP C C A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_144778.2 +1 reviewed p.A283E 1.000 238 0% 224 32.6% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL RAP2A 5911 genome.wustl.edu 37 13 98116573 98116573 + Missense_Mutation SNP G G T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_021033.6 +1 validated p.M143I 1.000 134 0% 122 35.2% 2 0% benign(0) tolerated(0.77) neutral(0.001) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases SLC10A2 6555 genome.wustl.edu 37 13 103718332 103718332 + Missense_Mutation SNP A A G novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_000452.2 -1 reviewed p.F90L 1.000 262 0% 280 32.5% 0 - probably_damaging(0.991) deleterious(0.05) deleterious(0.789) HMMPfam_SBF COL4A1 1282 genome.wustl.edu 37 13 110845222 110845222 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001845.4 -1 reviewed p.G474R 0.593 37 2.7% 30 43.3% 12 8.3% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Collagen TM9SF1 10548 genome.wustl.edu 37 14 24662463 24662463 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_006405.5 -1 validated p.R120C 1.000 71 0% 73 35.6% 35 48.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_EMP70 MDGA2 161357 genome.wustl.edu 37 14 47426750 47426750 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001113498.1 -1 validated p.R570Q 1.000 182 0% 160 23.1% 0 - possibly_damaging(0.923) deleterious(0) deleterious(0.817) superfamily_SSF48726 C14orf135 64430 genome.wustl.edu 37 14 60591543 60591543 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_022495.5 +1 validated p.A651V 0.966 332 0% 322 30.1% 1 0% benign(0.02) tolerated(0.16) neutral(0.060) NULL SYNE2 23224 genome.wustl.edu 37 14 64469641 64469641 + Silent SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_182914.2 +1 reviewed p.A1330 0.001 251 0.4% 229 30.1% 0 - - - - NULL TMEM229B 161145 genome.wustl.edu 37 14 67940517 67940517 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_182526.2 -1 provisional p.P42S 1.000 9 0.000 18 0.222 1 0% possibly_damaging(0.67) tolerated(0.19) neutral(0.287) NULL ZFYVE26 23503 genome.wustl.edu 37 14 68249976 68249976 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_015346.3 -1 reviewed p.P1298L 0.363 342 1.5% 131 35.9% 5 20% benign(0.014) deleterious(0) neutral(0.445) NULL ALDH6A1 4329 genome.wustl.edu 37 14 74534089 74534089 + Missense_Mutation SNP T T C novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_005589.2 -1 reviewed p.N346D 1.000 126 0% 103 28.2% 3 33.3% benign(0.003) tolerated(0.14) neutral(0.249) HMMPfam_Aldedh,superfamily_ALDH-like LTBP2 4053 genome.wustl.edu 37 14 74969606 74969606 + Silent SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_000428.2 -1 reviewed p.R1640 0.979 25 0% 37 29.7% 5 20% - - - superfamily_TB module/8-cys domain TTLL5 23093 genome.wustl.edu 37 14 76420772 76420772 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_015072.4 +1 reviewed p.A1277T 0.856 356 0% 334 37.7% 6 50% benign(0) deleterious(0.01) neutral(0.406) NULL SPATA7 55812 genome.wustl.edu 37 14 88895757 88895757 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_018418.4 +1 reviewed p.D326 0.000 105 0% 158 25.3% 3 66.6% - - - NULL FBLN5 10516 genome.wustl.edu 37 14 92349298 92349298 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_006329.3 -1 reviewed p.D288N 1.000 99 1% 66 31.8% 17 11.7% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00179,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin SLC24A4 123041 genome.wustl.edu 37 14 92920290 92920290 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_153646.2 +1 validated p.D292 0.663 51 0% 42 33.3% 0 - - - - NULL LGMN 5641 genome.wustl.edu 37 14 93178024 93178024 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001008530.1 -1 reviewed p.V267I 1.000 219 0% 276 26.4% 35 34.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_C13 HHIPL1 84439 genome.wustl.edu 37 14 100118886 100118886 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001127258.1 +1 validated p.R194H 1.000 23 0% 20 35% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) superfamily_Soluble quinoprotein glucose dehydrogenase DYNC1H1 1778 genome.wustl.edu 37 14 102516208 102516208 + Missense_Mutation SNP T T G novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001376.4 +1 reviewed p.F4558C 1.000 51 0% 74 31.1% 289 46% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Dynein_heavy MARK3 4140 genome.wustl.edu 37 14 103932313 103932314 + Frame_Shift_Ins INS - - GA novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001128918.1 +1 validated p.R265fs 1.000:0.999 - - - - - - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase LOC727924 727924 genome.wustl.edu 37 15 22332707 22332707 + RNA DEL C C - novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NR_015416.1 +1 predicted NULL 0.978 - - - - - - - - - - APBA2 321 genome.wustl.edu 37 15 29346574 29346574 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_005503.3 +1 reviewed p.G163S 0.001 50 2% 49 32.7% 0 - benign(0) tolerated(0.09) neutral(0.296) NULL CHAC1 79094 genome.wustl.edu 37 15 41247912 41247912 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_024111.3 +1 validated p.D245 0.017 32 0% 22 45.5% 5 20% - - - HMMPfam_ChaC ZNF280D 54816 genome.wustl.edu 37 15 56959143 56959143 + Silent SNP A A C novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_017661.2 -1 validated p.A529 0.890 118 0% 131 29% 1 0% - - - NULL SLTM 79811 genome.wustl.edu 37 15 59182564 59182565 + Frame_Shift_Del DEL CT CT - novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_024755.2 -1 validated p.E665fs 1.000:1.000 - - - - - - - - - NULL LDHAL6B 92483 genome.wustl.edu 37 15 59499241 59499241 + Silent SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_033195.1 +1 provisional p.T34 0.000 71 0% 89 38.2% 0 - - - - NULL CA12 771 genome.wustl.edu 37 15 63619395 63619395 + Silent SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001218.3 -1 reviewed p.G315 0.998 46 0% 59 20.3% 1 0% - - - NULL DENND4A 10260 genome.wustl.edu 37 15 65962417 65962417 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001144823.1 -1 validated p.P1524L 1.000 40 0% 40 32.5% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL STRA6 64220 genome.wustl.edu 37 15 74476278 74476278 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001142617.1 -1 reviewed p.H407Y 0.000 39 0% 34 41.2% 15 26.6% benign(0.011) tolerated(0.23) neutral(0.042) NULL SH2D7 646892 genome.wustl.edu 37 15 78390287 78390287 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001101404.1 +1 provisional p.R95* 1.000 71 0% 68 26.5% 0 - - - - HMMPfam_SH2,HMMSmart_SH2,superfamily_SSF55550 ALPK3 57538 genome.wustl.edu 37 15 85410568 85410568 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_020778.4 +1 validated p.D1784N 1.000 68 0% 72 44.4% 1 100% benign(0.264) tolerated(0.11) neutral(0.299) HMMPfam_Alpha_kinase,HMMSmart_SM00811,superfamily_Protein kinase-like (PK-like) AKAP13 11214 genome.wustl.edu 37 15 86287029 86287031 + In_Frame_Del DEL AAC AAC - novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 AAC AAC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_006738.4 +1 reviewed p.N2793in_frame_del 1.000:0.998:1.000 - - - - - - - - - NULL NTRK3 4916 genome.wustl.edu 37 15 88483980 88483980 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001012338.1 -1 reviewed p.V530 0.747 253 0% 284 35.6% 0 - - - - superfamily_Protein kinase-like (PK-like) PRR25 388199 genome.wustl.edu 37 16 855518 855523 + In_Frame_Del DEL GCAGCT GCAGCT - rs137876084 byCluster;by1000genomes TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 GCAGCT GCAGCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001013638.1 +1 provisional p.AA27in_frame_del 0.001:0.001:0.001:0.002:0.003:0.001 - - - - - - - - - NULL IFT140 9742 genome.wustl.edu 37 16 1657232 1657232 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_014714.3 -1 validated p.P12 0.003 122 0% 123 32.5% 0 - - - - NULL ZNF213 7760 genome.wustl.edu 37 16 3188488 3188488 + Missense_Mutation SNP A A G novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001134655.1 +1 validated p.T157A 0.000 21 0% 30 53.3% 7 42.8% benign(0.011) tolerated(0.53) neutral(0.008) NULL ABCC6 368 genome.wustl.edu 37 16 16315596 16315596 + Nonsense_Mutation SNP G G C novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001171.5 -1 reviewed p.Y43* 1.000 45 0% 52 42.3% 0 - - - - NULL SMG1 23049 genome.wustl.edu 37 16 18847420 18847420 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_015092.4 -1 reviewed p.R2631H 1.000 40 0% 39 20.5% 0 - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL EEF2K 29904 genome.wustl.edu 37 16 22237173 22237173 + Silent SNP C C A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_013302.3 +1 reviewed p.P41 1.000 124 0% 96 28.1% 0 - - - - NULL ENSG00000245868 0 genome.wustl.edu 37 16 23489655 23489655 + RNA SNP A A G novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d ENST00000498959 +1 novel NULL 0.001 265 0% 140 27.9% 0 - - - - - GGA2 23062 genome.wustl.edu 37 16 23491143 23491143 + Missense_Mutation SNP G G C novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_015044.4 -1 reviewed p.P358A 0.006 89 0% 46 37% 5 40% benign(0.005) tolerated(0.11) neutral(0.272) NULL GSG1L 146395 genome.wustl.edu 37 16 27802695 27802695 + Missense_Mutation SNP A A G novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001109763.1 -1 validated p.V331A 1.000 24 0% 18 27.8% 0 - benign(0.029) deleterious(0) neutral(0.446) NULL SEZ6L2 26470 genome.wustl.edu 37 16 29897042 29897042 + Missense_Mutation SNP G G T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_201575.2 -1 validated p.L413I 0.983 48 0% 38 36.8% 6 16.6% benign(0.362) tolerated(0.18) neutral(0.171) HMMSmart_SM00042,superfamily_Spermadhesin CUB domain SETD1A 9739 genome.wustl.edu 37 16 30977325 30977325 + Missense_Mutation SNP G G C novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_014712.1 +1 provisional p.G708A 0.948 72 0% 46 32.6% 1 100% possibly_damaging(0.845) - - NULL SHCBP1 79801 genome.wustl.edu 37 16 46615863 46615863 + Nonsense_Mutation SNP A A T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_024745.4 -1 validated p.C599* 0.031 319 0% 465 32.5% 2 50% - - - NULL LONP2 83752 genome.wustl.edu 37 16 48295468 48295468 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_031490.2 +1 provisional p.A286V 1.000 229 0% 283 29% 6 66.6% probably_damaging(0.999) tolerated(1) deleterious(0.490) NULL SLC6A2 6530 genome.wustl.edu 37 16 55719140 55719140 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001043.3 +1 reviewed p.V244I 1.000 59 0% 50 30% 0 - probably_damaging(0.999) tolerated(0.16) deleterious(0.550) HMMPfam_SNF NUP93 9688 genome.wustl.edu 37 16 56870621 56870621 + Missense_Mutation SNP C C A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_014669.3 +1 validated p.L631I 1.000 200 0.5% 150 34% 18 55.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Nic96 THAP11 57215 genome.wustl.edu 37 16 67876890 67876890 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_020457.2 +1 reviewed p.L145 1.000 55 0% 53 41.5% 16 37.5% - - - NULL IRF8 3394 genome.wustl.edu 37 16 85952310 85952310 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_002163.2 +1 reviewed p.V297M 1.000 10 0% 23 43.5% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SMAD_FHA,HMMPfam_IRF-3 MIS12 79003 genome.wustl.edu 37 17 5392339 5392340 + Frame_Shift_Del DEL TG TG - novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_024039.1 +1 provisional p.C53fs 0.020:0.016 - - - - - - - - - HMMPfam_Mis12 ZBTB4 57659 genome.wustl.edu 37 17 7366166 7366166 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001128833.1 -1 validated p.A712V 0.001 45 0% 50 36% 4 75% benign(0.253) deleterious(0.01) neutral(0.432) NULL CTC1 80169 genome.wustl.edu 37 17 8138476 8138476 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_025099.5 -1 validated p.R445H 0.000 113 0% 100 30% 0 - benign(0) tolerated(0.54) neutral(0.007) NULL USP43 124739 genome.wustl.edu 37 17 9631549 9631549 + Missense_Mutation SNP C C A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_153210.3 +1 validated p.L872I 0.000 30 0% 28 39.3% 8 50% possibly_damaging(0.736) deleterious(0.01) deleterious(0.675) NULL MYH13 8735 genome.wustl.edu 37 17 10212664 10212664 + Silent SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_003802.2 -1 validated p.L1686 0.309 19 0% 24 41.7% 0 - - - - HMMPfam_Myosin_tail_1 TEKT3 64518 genome.wustl.edu 37 17 15234814 15234814 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_031898.2 -1 reviewed p.A30V 0.976 203 0% 168 41.1% 1 100% benign(0.277) deleterious(0.04) neutral(0.378) NULL ENSG00000251537 0 genome.wustl.edu 37 17 15554750 15554750 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d ENST00000455584 -1 known p.R73K 0.001 426 0.2% 375 34.4% 4 25% - - - NULL MAPK7 5598 genome.wustl.edu 37 17 19284406 19284406 + Missense_Mutation SNP G G T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_002749.3 +1 reviewed p.R295L 1.000 24 0% 44 38.6% 9 44.4% unknown(0) deleterious(0.01) - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ALDH3A2 224 genome.wustl.edu 37 17 19575092 19575092 + Silent SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001031806.1 +1 reviewed p.Q422 0.009 173 0% 132 31.1% 34 67.6% - - - superfamily_Aldehyde_DH/Histidinol_DH SUPT6H 6830 genome.wustl.edu 37 17 27016476 27016476 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_003170.3 +1 validated p.A1080V 1.000 91 1.1% 119 26.9% 13 46.1% benign(0.33) tolerated(0.1) neutral(0.390) NULL SEZ6 124925 genome.wustl.edu 37 17 27284458 27284458 + Missense_Mutation SNP T T C novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_178860.4 -1 validated p.Q801R 1.000 67 0% 89 32.6% 0 - benign(0.311) tolerated(0.32) neutral(0.121) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CORO6 84940 genome.wustl.edu 37 17 27945918 27945918 + Missense_Mutation SNP G G T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_032854.3 -1 validated p.P175T 1.000 7 0.000 22 0.500 1 0% benign(0.001) tolerated(0.35) neutral(0.021) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 TMEM132E 124842 genome.wustl.edu 37 17 32961879 32961879 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_207313.1 +1 provisional p.R494C 1.000 14 0% 19 26.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL UNC45B 146862 genome.wustl.edu 37 17 33477187 33477187 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_173167.2 +1 validated p.R109Q 0.230 62 0% 54 38.9% 0 - benign(0.33) tolerated(0.19) neutral(0.153) HMMPfam_TPR_1,superfamily_ARM repeat,HMMSmart_SM00028,superfamily_TPR-like SLFN11 91607 genome.wustl.edu 37 17 33680666 33680666 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001104587.1 -1 validated p.A537 0.000 92 0% 115 15.7% 2 0% - - - NULL KRT20 54474 genome.wustl.edu 37 17 39041174 39041174 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_019010.1 -1 reviewed p.V88 1.000 119 0% 73 34.2% 2 0% - - - HMMPfam_Filament KRT32 3882 genome.wustl.edu 37 17 39623297 39623297 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_002278.3 -1 reviewed p.G94D 0.997 50 0% 50 40% 0 - probably_damaging(0.988) deleterious(0) deleterious(0.882) NULL DHX8 1659 genome.wustl.edu 37 17 41599511 41599511 + Silent SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_004941.1 +1 reviewed p.P1120 0.012 91 0% 90 36.7% 20 40% - - - HMMPfam_DUF1605 DCAKD 79877 genome.wustl.edu 37 17 43102073 43102073 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001128631.1 -1 validated p.A142T 0.064 32 0% 42 38.1% 9 22.2% benign(0.271) tolerated(0.52) neutral(0.038) HMMPfam_CoaE,superfamily_P-loop containing nucleoside triphosphate hydrolases HOXB9 3219 genome.wustl.edu 37 17 46700309 46700309 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_024017.4 -1 reviewed p.R236W 1.000 317 0% 300 35.3% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1 IGF2BP1 10642 genome.wustl.edu 37 17 47115720 47115720 + Missense_Mutation SNP C C A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_006546.3 +1 reviewed p.L198I 0.902 265 0% 46 37% 0 - benign(0.196) tolerated(0.08) neutral(0.319) HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) BRIP1 83990 genome.wustl.edu 37 17 59761337 59761337 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_032043.1 -1 reviewed p.G1024R 0.002 263 0% 233 30.5% 0 - benign(0) tolerated(0.86) neutral(0.001) NULL ACE 1636 genome.wustl.edu 37 17 61557836 61557836 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_000789.2 +1 reviewed p.R265Q 0.996 26 0% 36 47.2% 2 0% benign(0.059) tolerated(0.74) neutral(0.005) "HMMPfam_Peptidase_M2,superfamily_Metalloproteases (""zincins"") catalytic domain" KCNH6 81033 genome.wustl.edu 37 17 61611293 61611293 + Missense_Mutation SNP C C T rs184322799 by1000genomes TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_030779.2 +1 reviewed p.A241V 0.998 45 0% 42 45.2% 0 - benign(0.023) deleterious(0.03) neutral(0.365) NULL BPTF 2186 genome.wustl.edu 37 17 65850503 65850503 + Missense_Mutation SNP A A T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_182641.3 +1 reviewed p.Y354F 0.997 244 0% 239 35.6% 0 - possibly_damaging(0.767) tolerated(0.54) neutral(0.292) NULL BPTF 2186 genome.wustl.edu 37 17 65882299 65882299 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_004459.6 +1 reviewed p.I703 0.967 307 0% 313 35.8% 1 100% - - - NULL KCNJ2 3759 genome.wustl.edu 37 17 68171387 68171387 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_000891.2 +1 reviewed p.L69 0.465 113 0% 122 32% 0 - - - - HMMPfam_IRK,superfamily_Voltage-gated potassium channels SEPT9 10801 genome.wustl.edu 37 17 75398198 75398198 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001113491.1 +1 reviewed p.R45Q 1.000 34 0% 23 60.9% 27 37% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL CANT1 124583 genome.wustl.edu 37 17 76989737 76989737 + Silent SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_138793.3 -1 reviewed p.S367 0.002 38 0% 39 38.5% 10 10% - - - HMMPfam_Apyrase,superfamily_Apyrase GAA 2548 genome.wustl.edu 37 17 78081446 78081446 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_000152.3 +1 reviewed p.A261 0.943 12 0% 12 33.3% 7 14.2% - - - NULL RNF213 57674 genome.wustl.edu 37 17 78335565 78335565 + Silent SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d ENST00000508628 +1 known p.Q3744 1.000 24 0% 54 29.6% 0 - - - - NULL RNF213 57674 genome.wustl.edu 37 17 78355489 78355489 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d ENST00000508628 +1 known p.R4647H 0.674 36 0% 42 28.6% 9 33.3% benign(0.001) tolerated(0.2) neutral(0.049) NULL SLC38A10 124565 genome.wustl.edu 37 17 79226360 79226360 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001037984.1 -1 validated p.A527V 0.000 29 0% 33 24.2% 24 45.8% benign(0) tolerated(0.31) neutral(0.027) NULL CCDC137 339230 genome.wustl.edu 37 17 79638853 79638853 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_199287.2 +1 validated p.R193* 0.973 16 0% 19 31.6% 5 0% - - - NULL MYOM1 8736 genome.wustl.edu 37 18 3079267 3079267 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_003803.3 -1 reviewed p.E1520K 1.000 64 0% 77 29.9% 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) superfamily_Immunoglobulin CIDEA 1149 genome.wustl.edu 37 18 12264321 12264321 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_198289.2 +1 reviewed p.V101I 0.000 81 0% 79 27.8% 0 - benign(0.002) tolerated(0.45) neutral(0.012) HMMPfam_CIDE-N,HMMSmart_CAD,superfamily_SSF54277 DSG2 1829 genome.wustl.edu 37 18 29110980 29110980 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001943.3 +1 reviewed p.D349N 0.720 191 0% 186 36.6% 7 85.7% benign(0.001) tolerated(0.09) neutral(0.296) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin FAM59A 64762 genome.wustl.edu 37 18 29848074 29848074 + Silent SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_022751.1 -1 provisional p.G796 0.143 59 0% 54 38.9% 3 66.6% - - - NULL GALNT1 2589 genome.wustl.edu 37 18 33272178 33272178 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_020474.3 +1 reviewed p.S398L 1.000 201 0% 203 33% 7 42.8% benign(0.015) tolerated(0.08) neutral(0.300) superfamily_Nucleotide-diphospho-sugar transferases SLC39A6 25800 genome.wustl.edu 37 18 33694087 33694087 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_012319.3 -1 validated p.H606Y 1.000 137 0% 103 29.1% 16 68.7% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Zip WDR7 23335 genome.wustl.edu 37 18 54448877 54448877 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_015285.2 +1 reviewed p.H1060 0.043 103 0% 86 11.6% 0 - - - - NULL ALPK2 115701 genome.wustl.edu 37 18 56203528 56203528 + Silent SNP A A G novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_052947.3 -1 validated p.A1297 0.001 177 0% 154 37.7% 0 - - - - NULL SERPINB11 89778 genome.wustl.edu 37 18 61379911 61379911 + Missense_Mutation SNP C C T rs193224810 by1000genomes TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_080475.2 +1 validated p.T114M 0.000 212 0% 241 33.6% 0 - benign(0.001) tolerated(0.11) neutral(0.272) HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins AP3D1 8943 genome.wustl.edu 37 19 2121046 2121046 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_003938.5 -1 validated p.R432 0.988 9 0.000 14 0.500 17 17.6% - - - HMMPfam_Adaptin_N,superfamily_ARM repeat ZNF555 148254 genome.wustl.edu 37 19 2853461 2853461 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_152791.4 +1 validated p.C466 0.001 89 0% 77 31.2% 2 50% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers STAP2 55620 genome.wustl.edu 37 19 4327199 4327199 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_017720.2 -1 reviewed p.V229M 0.975 65 0% 74 40.5% 52 36.5% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SH2 domain LOC100133070 100133070 genome.wustl.edu 37 19 4793669 4793669 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d XM_001719147.1 -1 model p.D103N 0.553 27 0% 32 56.2% 2 0% - - - NULL LONP1 9361 genome.wustl.edu 37 19 5693662 5693662 + Silent SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_004793.2 -1 reviewed p.S813 0.652 11 0% 22 40.9% 60 45% - - - HMMPfam_Lon_C,superfamily_Ribosomal_S5_D2-typ_fold CAMSAP3 57662 genome.wustl.edu 37 19 7682892 7682892 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001080429.2 +1 validated p.W1260* 1.000 29 0% 31 41.9% 50 48% - - - superfamily_PRC-barrel domain,HMMPfam_DUF1781 FBN3 84467 genome.wustl.edu 37 19 8182069 8182069 + Silent SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_032447.3 -1 reviewed p.D1190 0.965 51 0% 58 44.8% 0 - - - - HMMSmart_SM00179,HMMSmart_SM00181,PatternScan_EGF_2,HMMPfam_EGF_CA,superfamily_EGF/Laminin LOC100287659 100287659 genome.wustl.edu 37 19 11169410 11169410 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d XM_002343639.1 -1 model p.R37H 0.000 14 0% 20 50% 0 - - - - NULL ENSG00000188474 0 genome.wustl.edu 37 19 12223780 12223780 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d ENST00000339302 +1 known p.P473L 0.984 75 0% 94 22.3% 1 0% probably_damaging(0.975) deleterious(0.01) deleterious(0.823) superfamily_SSF57667 WDR83OS 51398 genome.wustl.edu 37 19 12780035 12780035 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_016145.3 -1 validated p.P21 0.986 21 0% 30 43.3% 100 46% - - - HMMPfam_UPF0139 SAMD1 90378 genome.wustl.edu 37 19 14199247 14199247 + Silent SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_138352.1 -1 provisional p.P427 0.795 21 0% 24 33.3% 112 48.2% - - - NULL DDX39A 10212 genome.wustl.edu 37 19 14520641 14520641 + Silent SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_005804.2 -1 reviewed p.H259 0.746 33 0% 41 36.6% 56 53.5% - - - HMMSmart_DEXDc,superfamily_SSF52540 SLC1A6 6511 genome.wustl.edu 37 19 15065049 15065049 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_005071.1 -1 provisional p.T421M 1.000 47 0% 36 30.6% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_SDF,PatternScan_NA_DICARBOXYL_SYMP_2 NOTCH3 4854 genome.wustl.edu 37 19 15281257 15281257 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_000435.2 -1 reviewed p.R1667C 0.977 28 0% 29 34.5% 18 44.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CYP4F3 4051 genome.wustl.edu 37 19 15752370 15752370 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_000896.2 +1 reviewed p.R49W 0.000 53 0% 42 38.1% 1 0% probably_damaging(0.992) deleterious(0.01) deleterious(0.853) NULL OR10H2 26538 genome.wustl.edu 37 19 15839245 15839245 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_013939.2 +1 validated p.R131H 0.999 149 0% 168 30.4% 0 - benign(0.061) tolerated(0.47) neutral(0.015) HMMPfam_7tm_1,superfamily_SSF81321 USE1 55850 genome.wustl.edu 37 19 17330117 17330117 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_018467.3 +1 validated p.A173V 1.000 18 0% 13 30.8% 17 47% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Use1 PDE4C 5143 genome.wustl.edu 37 19 18329174 18329174 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_000923.3 -1 validated p.T400 0.985 54 0% 54 27.8% 0 - - - - HMMPfam_PDEase_I,HMMSmart_SM00471,superfamily_HD-domain/PDEase-like FKBP8 23770 genome.wustl.edu 37 19 18650434 18650434 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_012181.3 -1 reviewed p.S130L 0.012 53 0% 57 21.1% 115 21.7% probably_damaging(0.961) tolerated(0.43) neutral(0.418) HMMPfam_FKBP_C,superfamily_SSF54534 ZNF93 81931 genome.wustl.edu 37 19 20045476 20045476 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_031218.3 +1 validated p.G571D 0.151 245 0% 282 39% 4 100% benign(0.128) tolerated(0.09) neutral(0.307) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LSR 51599 genome.wustl.edu 37 19 35758600 35758600 + Missense_Mutation SNP C C G novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_205834.2 +1 validated p.T626S 0.971 12 0% 18 44.4% 186 38.7% possibly_damaging(0.942) tolerated(0.48) neutral(0.398) NULL ARHGAP33 115703 genome.wustl.edu 37 19 36272095 36272095 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_052948.3 +1 reviewed p.H342 0.581 43 0% 39 38.5% 0 - - - - HMMPfam_RhoGAP,HMMSmart_RhoGAP,superfamily_Rho_GAP SIPA1L3 23094 genome.wustl.edu 37 19 38610381 38610381 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_015073.1 +1 validated p.F909 1.000 79 0% 78 38.5% 5 60% - - - NULL CYP2A7P1 1550 genome.wustl.edu 37 19 41530280 41530280 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d ENST00000301171 -1 known p.E237 0.879 104 0% 78 19.2% 0 - - - - HMMPfam_p450,superfamily_Cytochrome_P450 ARHGEF1 9138 genome.wustl.edu 37 19 42396677 42396677 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_199002.1 +1 reviewed p.R139H 1.000 26 0% 30 23.3% 6 16.6% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_RGS-like,superfamily_Regulat_G_prot_signal_superfam GRIK5 2901 genome.wustl.edu 37 19 42507499 42507499 + Silent SNP T T C novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d ENST00000454993 -1 known p.S210G 0.976 72 0% 44 45.5% 0 - - - - NULL LIPE 3991 genome.wustl.edu 37 19 42914764 42914764 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_005357.2 -1 reviewed p.G372R 0.999 109 0% 98 29.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HSL_N CCDC114 93233 genome.wustl.edu 37 19 48805992 48805992 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_144577.3 -1 validated p.R363H 0.002 37 0% 44 52.3% 3 66.6% benign(0.004) deleterious(0.03) neutral(0.364) NULL SCAF1 58506 genome.wustl.edu 37 19 50148366 50148366 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_021228.2 +1 validated p.T28M 0.989 16 0% 38 18.4% 4 75% unknown(0) deleterious(0) - NULL CPT1C 126129 genome.wustl.edu 37 19 50208272 50208272 + Frame_Shift_Del DEL G G - novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_152359.1 +1 provisional p.Y261fs 1.000 - - - - - - - - - HMMPfam_Carn_acyltransf,superfamily_CoA-dependent acyltransferases ZNF616 90317 genome.wustl.edu 37 19 52618314 52618314 + Silent SNP A A G novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_178523.3 -1 validated p.S701 0.000 420 0% 338 30.5% 2 50% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF160 90338 genome.wustl.edu 37 19 53571638 53571638 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001102603.1 -1 reviewed p.R717C 0.000 292 0% 278 31.3% 0 - possibly_damaging(0.864) tolerated(0.08) deleterious(0.635) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF347 84671 genome.wustl.edu 37 19 53652530 53652530 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_032584.2 -1 validated p.V36M 0.866 493 0% 411 33.1% 4 50% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) LENG8 114823 genome.wustl.edu 37 19 54967522 54967522 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_052925.2 +1 validated p.S441 0.276 46 0% 63 25.4% 6 33.3% - - - NULL ZNF548 147694 genome.wustl.edu 37 19 57910152 57910152 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_152909.3 +1 validated p.S166L 0.001 432 0% 322 25.2% 2 0% possibly_damaging(0.845) tolerated(0.67) neutral(0.327) NULL ZNF551 90233 genome.wustl.edu 37 19 58198747 58198747 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_138347.3 +1 validated p.C352 0.998 250 0.8% 297 34.3% 1 0% benign(0) - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers C20orf194 25943 genome.wustl.edu 37 20 3305558 3305558 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001009984.1 -1 validated p.P416S 0.006 249 0% 241 27.8% 1 0% benign(0.009) tolerated(0.14) neutral(0.250) NULL SMOX 54498 genome.wustl.edu 37 20 4167953 4167953 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_175839.1 +1 reviewed p.R523C 1.000 55 0% 50 32% 18 22.2% probably_damaging(1) tolerated(0.14) deleterious(0.750) HMMPfam_Amino_oxidase,superfamily_FAD/NAD(P)-binding domain SSTR4 6754 genome.wustl.edu 37 20 23016483 23016483 + Silent SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001052.2 +1 validated p.A121 0.408 19 0% 28 46.4% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 HM13 81502 genome.wustl.edu 37 20 30149471 30149471 + Missense_Mutation SNP A A C novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_178581.1 +1 reviewed p.S294R 1.000 87 0% 78 35.9% 171 43.2% probably_damaging(0.991) deleterious(0.03) deleterious(0.808) HMMSmart_PSN,HMMPfam_Peptidase_A22B PXMP4 11264 genome.wustl.edu 37 20 32295752 32295752 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_183397.2 -1 validated p.A67V 0.000 39 0% 50 20% 9 22.2% unknown(0) - - NULL ITCH 83737 genome.wustl.edu 37 20 33001684 33001687 + Frame_Shift_Del DEL AAGT AAGT - novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 AAGT AAGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_031483.4 +1 reviewed p.S159fs 0.998:0.999 - - - - - - - - - NULL NCOA6 23054 genome.wustl.edu 37 20 33345759 33345759 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_014071.2 -1 reviewed p.Q264 0.969 61 0% 74 35.1% 0 - - - - NULL TTI1 9675 genome.wustl.edu 37 20 36631111 36631111 + Silent SNP T T C novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_014657.1 -1 predicted p.P857 0.000 127 0% 142 38.7% 8 50% - - - superfamily_ARM-type_fold LBP 3929 genome.wustl.edu 37 20 36974959 36974959 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_004139.2 +1 reviewed p.A14T 0.007 17 0% 18 38.9% 0 - unknown(0) tolerated(0.13) - NULL MMP9 4318 genome.wustl.edu 37 20 44639602 44639602 + Missense_Mutation SNP C C A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_004994.2 +1 reviewed p.L188M 0.999 99 0% 119 40.3% 6 0% probably_damaging(1) deleterious(0) deleterious(0.945) "HMMPfam_Peptidase_M10,HMMSmart_SM00235,superfamily_Metalloproteases (""zincins"") catalytic domain" FAM65C 140876 genome.wustl.edu 37 20 49218765 49218765 + Silent SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_080829.2 -1 predicted p.H497 0.000 14 0% 21 38.1% 1 0% - - - NULL GNAS 2778 genome.wustl.edu 37 20 57485864 57485864 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_080425.2 +1 reviewed p.R1032C 1.000 79 0% 76 15.8% 1910 26.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_G-alpha,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases YTHDF1 54915 genome.wustl.edu 37 20 61834124 61834124 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_017798.3 -1 validated p.R390C 1.000 60 0% 63 38.1% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SON 6651 genome.wustl.edu 37 21 34926723 34926723 + Missense_Mutation SNP A A G novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_138927.1 +1 reviewed p.N1729S 1.000 86 0% 131 29% 6 16.6% possibly_damaging(0.936) deleterious(0) deleterious(0.826) NULL DYRK1A 1859 genome.wustl.edu 37 21 38853090 38853090 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001396.3 +1 reviewed p.E160K 1.000 153 0% 208 31.7% 0 - benign(0.216) deleterious(0.04) neutral(0.370) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase TRAPPC10 7109 genome.wustl.edu 37 21 45502961 45502961 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_003274.4 +1 reviewed p.P672 0.000 140 0% 137 27% 5 60% - - - NULL TRPM2 7226 genome.wustl.edu 37 21 45855083 45855083 + Silent SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_003307.3 +1 reviewed p.L1348 0.998 45 0% 37 48.6% 10 30% - - - superfamily_Nudix POFUT2 23275 genome.wustl.edu 37 21 46698047 46698047 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_133635.4 -1 validated p.D226N 1.000 143 0% 172 29.1% 3 0% probably_damaging(0.956) deleterious(0.01) deleterious(0.805) HMMPfam_O-FucT LSS 4047 genome.wustl.edu 37 21 47636307 47636307 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001001438.2 -1 reviewed p.R260H 1.000 13 0% 21 33.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Terp_cyc_toroid MICAL3 57553 genome.wustl.edu 37 22 18305733 18305733 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_015241.2 -1 provisional p.T1096I 1.000 17 0% 18 44.4% 0 - possibly_damaging(0.85) deleterious(0.02) deleterious(0.710) NULL DGCR14 8220 genome.wustl.edu 37 22 19121896 19121896 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_022719.2 -1 reviewed p.R415Q 1.000 8 0.000 12 0.583 25 48% probably_damaging(0.992) tolerated(0.27) deleterious(0.481) NULL PI4KA 5297 genome.wustl.edu 37 22 21065053 21065053 + Missense_Mutation SNP C C A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_058004.2 -1 reviewed p.G1948V 1.000 35 0% 27 14.8% 18 38.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,superfamily_Protein kinase-like (PK-like) IGLV6-57 28778 genome.wustl.edu 37 22 22550437 22550437 + Silent SNP C C A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d ENST00000390285 +1 known p.T38 0.001 47 0% 77 28.6% 1 0% - - - HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin CABIN1 23523 genome.wustl.edu 37 22 24479195 24479195 + Silent SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_012295.2 +1 reviewed p.Q921 0.955 31 0% 32 40.6% 3 33.3% - - - superfamily_SSF48452 SUSD2 56241 genome.wustl.edu 37 22 24580151 24580151 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_019601.3 +1 validated p.E163K 1.000 22 0% 19 26.3% 3 33.3% possibly_damaging(0.916) tolerated(0.43) neutral(0.381) NULL MORC2 22880 genome.wustl.edu 37 22 31330918 31330919 + Frame_Shift_Del DEL GA GA - novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_014941.1 -1 provisional p.L619fs 0.000:0.000 - - - - - - - - - NULL CSNK1E 1454 genome.wustl.edu 37 22 38695977 38695977 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001894.4 -1 reviewed p.T220I 1.000 72 0% 58 36.2% 49 40.8% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase L3MBTL2 83746 genome.wustl.edu 37 22 41605722 41605722 + Missense_Mutation SNP T T A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_031488.4 +1 validated p.M16K 1.000 393 0% 231 29.9% 0 - unknown(0) deleterious(0) - NULL TCF20 6942 genome.wustl.edu 37 22 42608372 42608372 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_005650.1 -1 reviewed p.P980 0.003 109 0% 100 32% 0 - - - - NULL ENSG00000198888 0 genome.wustl.edu 37 MT 3454 3454 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d ENST00000361390 +1 known p.A50T NULL 110 0% 12 58.3% 8006 62.3% possibly_damaging(0.908) deleterious(0.01) deleterious(0.767) HMMPfam_NADHdh,PatternScan_COMPLEX1_ND1_1 CSF2RA 1438 genome.wustl.edu 37 X 1413240 1413240 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_006140.4 +1 reviewed p.S222 0.002 59 0% 101 33.7% 2 0% - - - superfamily_Fibronectin type III ARSH 347527 genome.wustl.edu 37 X 2933043 2933043 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001011719.1 +1 validated p.R125W 0.000 126 0% 102 45.1% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core ARSH 347527 genome.wustl.edu 37 X 2942143 2942143 + Missense_Mutation SNP T T C novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001011719.1 +1 validated p.L328P 0.976 18 0% 16 56.2% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core STS 412 genome.wustl.edu 37 X 7267972 7267972 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_000351.4 +1 reviewed p.N474 0.000 283 0% 247 29.6% 5 0% - - - HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core DMD 1756 genome.wustl.edu 37 X 31838106 31838106 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_004006.2 -1 reviewed p.T2432I 0.000 156 0% 168 41.7% 1 0% benign(0.009) tolerated(0.15) neutral(0.241) NULL FAM47A 158724 genome.wustl.edu 37 X 34149162 34149162 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_203408.3 -1 validated p.R412C 0.003 183 0% 249 25.3% 0 - benign(0.034) deleterious(0.01) neutral(0.408) NULL BCOR 54880 genome.wustl.edu 37 X 39933048 39933048 + Silent SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001123385.1 -1 reviewed p.N517 0.189 43 0% 51 37.3% 3 0% - - - NULL RBM10 8241 genome.wustl.edu 37 X 47030473 47030473 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_005676.3 +1 reviewed p.R83Q 1.000 42 0% 41 48.8% 3 0% probably_damaging(0.982) tolerated(0.11) deleterious(0.698) NULL RBM10 8241 genome.wustl.edu 37 X 47039373 47039373 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_005676.3 +1 reviewed p.R332 0.976 28 0% 17 29.4% 10 100% - - - HMMSmart_SM00360,superfamily_RNA-binding domain RBD CFP 5199 genome.wustl.edu 37 X 47487912 47487913 + Frame_Shift_Ins INS - - G rs11436787 byCluster TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d ENST00000480317 -1 known p.S89fs 0.000:0.000 - - - - - - - - - NULL ZNF182 7569 genome.wustl.edu 37 X 47837015 47837015 + Silent SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_006962.1 -1 reviewed p.P157 0.013 181 0% 155 26.5% 0 - - - - NULL EBP 10682 genome.wustl.edu 37 X 48382317 48382317 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_006579.2 +1 reviewed p.A53V 0.695 100 0% 139 30.9% 11 0% benign(0.001) tolerated(0.18) neutral(0.056) HMMPfam_EBP MIR500A 574502 genome.wustl.edu 37 X 49773063 49773063 + RNA SNP C C A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d ENST00000385051 +1 known NULL 0.830 454 0% 422 38.2% 0 - - - - - FAM123B 139285 genome.wustl.edu 37 X 63411057 63411057 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_152424.3 -1 reviewed p.R704C 0.999 205 0% 153 28.8% 1 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL EDA2R 60401 genome.wustl.edu 37 X 65819474 65819474 + Missense_Mutation SNP T T A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_021783.2 -1 reviewed p.H249L 1.000 35 0% 57 36.8% 0 - possibly_damaging(0.85) deleterious(0) deleterious(0.772) NULL NLGN3 54413 genome.wustl.edu 37 X 70389868 70389868 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_018977.3 +1 reviewed p.T803I 0.995 55 0% 57 15.8% 0 - benign(0.266) deleterious(0.01) neutral(0.434) NULL TAF1 6872 genome.wustl.edu 37 X 70683821 70683821 + Missense_Mutation SNP C C A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_004606.3 +1 reviewed p.H1869Q 0.919 43 0% 34 32.4% 3 0% benign(0) tolerated(0.97) - NULL CXCR3 2833 genome.wustl.edu 37 X 70837274 70837274 + Frame_Shift_Del DEL A A - novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001504.1 -1 reviewed p.A17fs 0.000 - - - - - - - - - NULL CXorf26 51260 genome.wustl.edu 37 X 75395384 75395384 + Missense_Mutation SNP A A T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_016500.3 +1 predicted p.N78I 0.015 84 0% 82 29.3% 15 60% benign(0.004) tolerated(0.32) neutral(0.024) HMMPfam_DUF757 POU3F4 5456 genome.wustl.edu 37 X 82763801 82763801 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_000307.3 +1 reviewed p.A157T 0.753 44 0% 37 43.2% 0 - benign(0.001) tolerated(0.61) neutral(0.004) NULL POF1B 79983 genome.wustl.edu 37 X 84560852 84560852 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_024921.3 -1 reviewed p.T461M 1.000 203 0% 267 37.5% 0 - benign(0) tolerated(0.69) neutral(0.002) NULL SRPX2 27286 genome.wustl.edu 37 X 99920260 99920260 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_014467.2 +1 reviewed p.R185C 0.993 59 0% 55 36.4% 2 0% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) HMMPfam_HYR THOC2 57187 genome.wustl.edu 37 X 122759783 122759783 + Missense_Mutation SNP T T C novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_001081550.1 -1 validated p.T1013A 1.000 421 0.2% 459 34.2% 6 0% possibly_damaging(0.945) deleterious(0.01) deleterious(0.795) NULL ODZ1 10178 genome.wustl.edu 37 X 123518611 123518612 + Frame_Shift_Ins INS - - T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_014253.3 -1 reviewed p.S2050fs 1.000:1.000 - - - - - - - - - NULL BCORL1 63035 genome.wustl.edu 37 X 129147630 129147630 + Silent SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_021946.3 +1 reviewed p.P294 0.000 177 0% 168 35.7% 2 0% - - - NULL TFDP3 51270 genome.wustl.edu 37 X 132352180 132352180 + Silent SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_016521.2 -1 reviewed p.P36 0.083 56 0% 41 26.8% 0 - - - - NULL ARHGEF6 9459 genome.wustl.edu 37 X 135772879 135772879 + Missense_Mutation SNP G G C novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_004840.2 -1 reviewed p.Q359E 1.000 145 0% 139 37.4% 0 - benign(0.289) tolerated(0.06) neutral(0.411) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) RBMX 27316 genome.wustl.edu 37 X 135961586 135961588 + In_Frame_Del DEL TGT TGT - novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 TGT TGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_002139.3 -1 reviewed p.MVEA1in_frame_delWLK 1.000 - - - - - - - - - NULL LDOC1 23641 genome.wustl.edu 37 X 140271020 140271020 + Missense_Mutation SNP G G A novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_012317.2 -1 reviewed p.R63W 0.957 90 0% 76 28.9% 30 93.3% probably_damaging(1) tolerated(0.05) deleterious(0.845) NULL IDH3G 3421 genome.wustl.edu 37 X 153052955 153052955 + Missense_Mutation SNP C C T novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d NM_004135.2 -1 reviewed p.R213H 1.000 10 0% 18 33.3% 61 67.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Iso_dh,superfamily_SSF53659 HCFC1 3054 genome.wustl.edu 37 X 153225348 153225348 + Splice_Site SNP T T C novel TCGA-AX-A05S-01A-11W-A027-09 TCGA-AX-A05S-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e24c4d04-f076-47fd-8a9b-f26797478fa9 93530eb7-7675-45d1-9b78-0c08582b825d ENST00000354233 -1 known e9-2 1.000 9 0.000 9 0.444 2 50% - - - -