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 ARID1A 8289 genome.wustl.edu 37 1 27105550 27105550 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NM_006015.4 +1 reviewed p.R1721* 1.000 461 0% 424 19.8% - - - - - NULL ARID1A 8289 genome.wustl.edu 37 1 27107092 27107093 + Frame_Shift_Ins INS - - C novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NM_006015.4 +1 reviewed p.R2236fs 1.000:1.000 - - - - - - - - - NULL KHDRBS1 10657 genome.wustl.edu 37 1 32503580 32503580 + Silent SNP G G A novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NM_006559.1 +1 provisional p.A350 0.836 118 0% 103 17.5% - - - - - NULL WLS 79971 genome.wustl.edu 37 1 68619222 68619222 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NM_001002292.2 -1 validated p.R259* 1.000 200 0% 156 37.2% - - - - - HMMPfam_DUF1171 CFH 3075 genome.wustl.edu 37 1 196646701 196646701 + Missense_Mutation SNP C C T novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NM_000186.3 +1 reviewed p.R175W 0.002 298 0% 274 25.5% - - possibly_damaging(0.881) deleterious(0.01) deleterious(0.749) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain USH2A 7399 genome.wustl.edu 37 1 215972272 215972272 + Missense_Mutation SNP C C T novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NM_206933.2 -1 reviewed p.G3312E 0.998 249 0% 287 27.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00060,superfamily_Fibronectin type III HNRNPU 3192 genome.wustl.edu 37 1 245022609 245022609 + Missense_Mutation SNP C C A novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NM_031844.2 -1 reviewed p.G362V 1.000 59 0% 23 21.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SPRY,HMMSmart_SM00449 RAB3GAP1 22930 genome.wustl.edu 37 2 135848653 135848653 + Missense_Mutation SNP T T C novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NM_012233.2 +1 reviewed p.L79P 1.000 157 0% 271 27.3% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL SCN3A 6328 genome.wustl.edu 37 2 165997296 165997296 + Silent SNP G G T novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NM_006922.3 -1 reviewed p.A628 1.000 160 0% 152 47.4% - - - - - NULL NFE2L2 4780 genome.wustl.edu 37 2 178098945 178098945 + Missense_Mutation SNP G G C novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NM_006164.3 -1 validated p.R34G 1.000 90 0% 125 54.4% - - unknown(0) deleterious(0) - NULL SPATS2L 26010 genome.wustl.edu 37 2 201303934 201303935 + Frame_Shift_Ins INS - - GGTC novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NM_001100422.1 +1 validated p.A181fs 1.000:1.000 - - - - - - - - - HMMPfam_DUF1387 ATIC 471 genome.wustl.edu 37 2 216200794 216200794 + Missense_Mutation SNP G G A novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NM_004044.6 +1 reviewed p.E349K 1.000 341 0% 526 15% - - benign(0.276) deleterious(0.03) neutral(0.394) HMMPfam_AICARFT_IMPCHas,HMMSmart_AICARFT_IMPCHas,superfamily_AICARFT_IMPCHas_formly CTNNB1 1499 genome.wustl.edu 37 3 41266104 41266104 + Missense_Mutation SNP G G A novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NM_001098209.1 +1 reviewed p.G34E 1.000 103 0% 83 19.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SERPINI1 5274 genome.wustl.edu 37 3 167512530 167512530 + Silent SNP C C T novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NM_001122752.1 +1 reviewed p.L267 0.982 168 0% 167 43.1% - - - - - HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins PIK3CA 5290 genome.wustl.edu 37 3 178936094 178936094 + Missense_Mutation SNP C C A rs121913286 byCluster TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NM_006218.2 +1 reviewed p.Q546K 1.000 107 0% 111 11.7% - - probably_damaging(0.978) tolerated(0.11) deleterious(0.692) HMMPfam_PI3Ka,HMMSmart_PI3Ka,superfamily_ARM-type_fold ENSG00000252150 0 genome.wustl.edu 37 4 461410 461410 + RNA SNP G G T novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c ENST00000516341 -1 novel NULL 0.173 64 0% 75 12% - - - - - - LOC643446 643446 genome.wustl.edu 37 4 11373841 11373841 + Silent SNP G G A novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c XM_001130637.2 +1 model p.S81 0.129 43 0% 27 33.3% - - - - - NULL CCKAR 886 genome.wustl.edu 37 4 26484777 26484777 + Splice_Site SNP C C T novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NM_000730.2 -1 reviewed e4+1 1.000 263 0% 339 27.4% - - - - - - SKP2 6502 genome.wustl.edu 37 5 36180334 36180336 + In_Frame_Del DEL ACA ACA - novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 ACA ACA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c ENST00000308927 +1 known p.N369in_frame_del 0.000:0.001:0.000 - - - - - - - - - NULL PIK3R1 5295 genome.wustl.edu 37 5 67589562 67589564 + In_Frame_Del DEL TTG TTG - novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 TTG TTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NM_181523.1 +1 reviewed p.IE442in_frame_delK 1.000:1.000:1.000 - - - - - - - - - NULL HOMER1 9456 genome.wustl.edu 37 5 78742931 78742931 + Missense_Mutation SNP C C A novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NM_004272.3 -1 validated p.R111L 1.000 110 0% 136 42.6% - - probably_damaging(0.982) deleterious(0) deleterious(0.871) superfamily_PH domain-like PCDHB6 56130 genome.wustl.edu 37 5 140531438 140531438 + Missense_Mutation SNP C C T novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NM_018939.2 +1 reviewed p.R534C 0.162 85 0% 55 32.7% - - probably_damaging(0.996) deleterious(0.03) deleterious(0.826) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB13 56123 genome.wustl.edu 37 5 140594620 140594620 + Missense_Mutation SNP G G A novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NM_018933.2 +1 reviewed p.D309N 0.980 289 0% 168 42.3% - - possibly_damaging(0.602) deleterious(0.05) deleterious(0.554) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin DCTN4 51164 genome.wustl.edu 37 5 150110289 150110289 + Silent SNP C C T novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NM_001135643.1 -1 validated p.Q253 1.000 272 0% 223 20.6% - - - - - HMMPfam_Dynactin_p62 GALNT10 55568 genome.wustl.edu 37 5 153760076 153760080 + Frame_Shift_Del DEL CGGTA CGGTA - novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 CGGTA CGGTA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NM_198321.3 +1 reviewed p.Y276fs 1.000:1.000:0.974:1.000:1.000 - - - - - - - - - HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases PRPF4B 8899 genome.wustl.edu 37 6 4031797 4031797 + Missense_Mutation SNP G G A novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NM_003913.4 +1 reviewed p.E16K 0.999 104 0% 80 37.5% - - possibly_damaging(0.915) deleterious(0.03) deleterious(0.731) NULL COL19A1 1310 genome.wustl.edu 37 6 70639431 70639431 + Missense_Mutation SNP C C T novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NM_001858.4 +1 reviewed p.R169C 1.000 283 0% 246 34.6% - - unknown(0) deleterious(0.03) - HMMSmart_TSPN,superfamily_ConA_like_lec_gl C6orf70 55780 genome.wustl.edu 37 6 170155490 170155490 + Missense_Mutation SNP C C G novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NM_018341.1 +1 validated p.P96R 0.000 70 0% 49 26.5% - - possibly_damaging(0.901) tolerated(0.1) deleterious(0.643) NULL BAZ1B 9031 genome.wustl.edu 37 7 72863878 72863878 + Missense_Mutation SNP C C T novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NM_032408.3 -1 validated p.R1241H 1.000 122 0% 141 14.2% - - possibly_damaging(0.936) deleterious(0.01) deleterious(0.787) NULL C7orf63 79846 genome.wustl.edu 37 7 89936216 89936216 + Missense_Mutation SNP T T G novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NM_001039706.2 +1 validated p.I710S 1.000 93 0% 100 20% - - benign(0.01) deleterious(0.01) neutral(0.406) NULL PTPRZ1 5803 genome.wustl.edu 37 7 121651553 121651553 + Missense_Mutation SNP C C T novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NM_002851.2 +1 reviewed p.P818L 1.000 412 0% 445 51.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TMEM2 23670 genome.wustl.edu 37 9 74360368 74360368 + Silent SNP C C T novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NM_013390.2 -1 validated p.A200 0.996 202 0% 208 39.4% - - - - - HMMPfam_G8 C9orf95 54981 genome.wustl.edu 37 9 77693423 77693425 + RNA DEL GAG GAG - rs35443976 byCluster;by1000genomes TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NR_023352.1 -1 validated NULL 0.000:0.000:0.000 - - - - - - - - - - TRIM32 22954 genome.wustl.edu 37 9 119460626 119460626 + Missense_Mutation SNP C C T novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NM_001099679.1 +1 reviewed p.S202F 1.000 48 0% 40 42.5% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL SARDH 1757 genome.wustl.edu 37 9 136596606 136596606 + Missense_Mutation SNP G G T novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NM_001134707.1 -1 reviewed p.L171M 1.000 32 0% 22 40.9% - - probably_damaging(1) tolerated(0.19) deleterious(0.549) HMMPfam_DAO,superfamily_SSF51905 PTEN 5728 genome.wustl.edu 37 10 89692904 89692904 + Nonsense_Mutation SNP C C T rs121909224 byCluster TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c ENST00000371953 +1 known p.R130* 1.000 396 0% 430 44.7% - - - - - HMMPfam_DSPc,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II PTEN 5728 genome.wustl.edu 37 10 89717672 89717672 + Nonsense_Mutation SNP C C T rs121909219 byCluster TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c ENST00000371953 +1 known p.R233* 0.984 337 0.3% 420 25.2% - - - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 GBF1 8729 genome.wustl.edu 37 10 104136744 104136744 + Silent SNP G G A novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NM_004193.1 +1 provisional p.G1446 0.990 154 0% 184 17.4% - - - - - NULL NUMA1 4926 genome.wustl.edu 37 11 71727542 71727542 + Missense_Mutation SNP C C A novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NM_006185.2 -1 validated p.G385V 0.996 63 0% 51 35.3% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ZBTB16 7704 genome.wustl.edu 37 11 113934462 113934462 + Missense_Mutation SNP A A G novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NM_001018011.1 +1 reviewed p.D147G 1.000 18 0% 12 41.7% - - benign(0.167) tolerated(0.09) neutral(0.311) NULL ATF7IP 55729 genome.wustl.edu 37 12 14610169 14610169 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NM_018179.3 +1 validated p.E700* 1.000 117 0% 126 32.5% - - - - - NULL KRAS 3845 genome.wustl.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 byCluster TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NM_033360.2 -1 reviewed p.G12V 1.000 38 0% 22 22.7% - - benign(0.048) deleterious(0) neutral(0.448) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases OR6C75 390323 genome.wustl.edu 37 12 55759353 55759353 + Silent SNP C C A novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NM_001005497.1 +1 provisional p.I153 0.116 222 0% 234 21.8% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 TRHDE 29953 genome.wustl.edu 37 12 73012792 73012792 + Missense_Mutation SNP C C T novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NM_013381.2 +1 reviewed p.R770C 1.000 139 0% 181 40.9% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL KCNC2 3747 genome.wustl.edu 37 12 75444734 75444734 + Silent SNP T T G novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NM_139137.2 -1 reviewed p.R351 0.999 164 0% 191 19.4% - - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels HSP90B1 7184 genome.wustl.edu 37 12 104335315 104335319 + Frame_Shift_Del DEL ATTAC ATTAC - novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 ATTAC ATTAC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NM_003299.1 +1 provisional p.Y408fs 1.000:1.000:1.000:1.000:1.000 - - - - - - - - - superfamily_Ribosomal_S5_D2-typ_fold,HMMPfam_HSP90 CENPJ 55835 genome.wustl.edu 37 13 25479518 25479518 + Silent SNP T T C novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NM_018451.3 -1 reviewed p.E886 0.911 183 0% 246 23.6% - - - - - NULL LOC100132257 100132257 genome.wustl.edu 37 14 19117129 19117129 + Frame_Shift_Del DEL A A - rs141168980 byCluster;by1000genomes TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c XM_002343306.1 +1 model p.S127fs 0.002 - - - - - - - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK SYT16 83851 genome.wustl.edu 37 14 62541899 62541899 + Silent SNP C C T novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NM_031914.2 +1 validated p.Y261 0.998 153 0% 139 40.3% - - - - - NULL SERPINA6 866 genome.wustl.edu 37 14 94780546 94780546 + Missense_Mutation SNP A A T novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NM_001756.3 -1 reviewed p.I147N 0.027 216 0% 185 27.6% - - possibly_damaging(0.734) deleterious(0.01) deleterious(0.674) HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins VRK1 7443 genome.wustl.edu 37 14 97321623 97321623 + Silent SNP C C T novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NM_003384.2 +1 reviewed p.Y213 1.000 148 0.7% 124 35.5% - - - - - superfamily_Kinase_like IGHM 3507 genome.wustl.edu 37 14 106321761 106321761 + Missense_Mutation SNP C C T novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c ENST00000496208 -1 known p.G157D 0.552 31 0% 25 44% - - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_C1-set,HMMSmart_SM00407,superfamily_Immunoglobulin USP22 23326 genome.wustl.edu 37 17 20906349 20906349 + Frame_Shift_Del DEL C C - novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NM_015276.1 -1 validated p.E525fs 1.000 - - - - - - - - - NULL NUFIP2 57532 genome.wustl.edu 37 17 27613851 27613851 + Silent SNP G G A novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NM_020772.2 -1 validated p.T387 1.000 127 0% 97 28.9% - - - - - NULL SYNRG 11276 genome.wustl.edu 37 17 35913779 35913779 + Silent SNP T T G novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NM_007247.4 -1 reviewed p.L682 0.732 105 0% 100 25% - - - - - NULL KRTAP4-7 100132476 genome.wustl.edu 37 17 39240789 39240803 + Frame_Shift_Del DEL CGCCCCAGCTGCTGC CGCCCCAGCTGCTGC - novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 CGCCCCAGCTGCTGC CGCCCCAGCTGCTGC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c ENST00000377731 +1 known p.R111fs 0.000:0.000:0.000:0.007:0.640:0.619:0.629:0.687:0.896:0.903:0.912 - - - - - - - - - HMMPfam_Keratin_B2 ACSF2 80221 genome.wustl.edu 37 17 48539805 48539805 + Silent SNP C C T novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NM_025149.4 +1 validated p.I217 0.973 56 0% 41 48.8% - - - - - HMMPfam_AMP-binding,superfamily_SSF56801 FHOD3 80206 genome.wustl.edu 37 18 34320755 34320755 + Missense_Mutation SNP G G A novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NM_025135.2 +1 validated p.R1063Q 1.000 120 0% 134 34.3% - - possibly_damaging(0.936) deleterious(0) deleterious(0.826) HMMSmart_FH2,HMMPfam_FH2,superfamily_FH2_actin_bd CYP4F12 66002 genome.wustl.edu 37 19 15794436 15794436 + Missense_Mutation SNP C C T novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NM_023944.2 +1 reviewed p.R261C 0.687 232 0% 173 34.7% - - benign(0.032) deleterious(0.01) neutral(0.407) HMMPfam_p450,superfamily_Cytochrome P450 KIRREL2 84063 genome.wustl.edu 37 19 36349430 36349430 + Missense_Mutation SNP G G A novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NM_199180.2 +1 validated p.R111H 1.000 56 0% 19 57.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin CYP2A13 1553 genome.wustl.edu 37 19 41601743 41601743 + Missense_Mutation SNP G G A rs187221928 by1000genomes TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NM_000766.3 +1 reviewed p.R461H 0.000 63 0% 42 11.9% - - benign(0) tolerated(0.14) neutral(0.249) HMMPfam_p450,superfamily_Cytochrome_P450 RASIP1 54922 genome.wustl.edu 37 19 49230661 49230661 + Silent SNP A A G novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NM_017805.2 -1 validated p.R620 0.998 160 0% 76 28.9% - - - - - NULL ACPT 93650 genome.wustl.edu 37 19 51295580 51295580 + Missense_Mutation SNP A A C novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NM_033068.2 +1 reviewed p.T211P 0.935 7 0.000 8 0.500 - - probably_damaging(0.991) tolerated(0.2) deleterious(0.493) HMMPfam_Acid_phosphat_A,superfamily_Phosphoglycerate mutase-like MTMR8 55613 genome.wustl.edu 37 X 63569876 63569876 + Missense_Mutation SNP C C G novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NM_017677.3 -1 reviewed p.K181N 0.847 223 0% 277 20.2% - - unknown(0) tolerated(0.14) - HMMPfam_Myotub-related,superfamily_(Phosphotyrosine protein) phosphatases II TKTL1 8277 genome.wustl.edu 37 X 153533707 153533707 + Missense_Mutation SNP C C A novel TCGA-AX-A05W-01A-21W-A027-09 TCGA-AX-A05W-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bd258332-f1bb-47a9-91fd-93df87c84eb6 7286cf3d-34e0-4c4b-b55d-f9ae8382a71c NM_012253.3 +1 validated p.F62L 0.990 53 0% 29 24.1% - - unknown(0) deleterious(0) - superfamily_Thiamin diphosphate-binding fold (THDP-binding)