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 GBP1 2633 genome.wustl.edu 37 1 89528913 89528913 + Missense_Mutation SNP G G T novel TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a NM_002053.2 -1 validated p.A2E 0.101 227 0% 180 36.7% - - probably_damaging(0.968) tolerated(0.17) deleterious(0.469) NULL TRAF5 7188 genome.wustl.edu 37 1 211545736 211545736 + Missense_Mutation SNP G G A novel TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a NM_001033910.2 +1 reviewed p.G456R 1.000 246 0% 290 39.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MATH,HMMSmart_SM00061,superfamily_TRAF domain-like FMN2 56776 genome.wustl.edu 37 1 240371223 240371223 + Silent SNP C C T novel TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a NM_020066.4 +1 validated p.P1037 0.004 11 0% 11 36.4% - - - - - HMMSmart_FH2,HMMPfam_Drf_FH1 ACVR1 90 genome.wustl.edu 37 2 158630626 158630626 + Missense_Mutation SNP C C T rs121912678 TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a NM_001105.4 -1 reviewed p.R206H 1.000 328 0% 299 37.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TGF_beta_GS,HMMSmart_GS,superfamily_Kinase_like LRP2 4036 genome.wustl.edu 37 2 170081881 170081882 + Frame_Shift_Ins INS - - GG novel TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a NM_004525.2 -1 reviewed p.L1826fs 1.000:1.000 - - - - - - - - - HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 PLCL1 5334 genome.wustl.edu 37 2 198948824 198948824 + Missense_Mutation SNP G G A novel TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a NM_006226.3 +1 validated p.G97R 1.000 267 0% 247 40.1% - - probably_damaging(1) tolerated(0.09) deleterious(0.796) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 ERBB4 2066 genome.wustl.edu 37 2 212543781 212543781 + Missense_Mutation SNP C C T novel TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a NM_005235.2 -1 reviewed p.D540N 1.000 68 0% 92 41.3% - - benign(0.009) tolerated(0.52) neutral(0.009) HMMSmart_SM00261,superfamily_Growth factor receptor domain WDFY3 23001 genome.wustl.edu 37 4 85600322 85600322 + Silent SNP G G A novel TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a NM_014991.4 -1 reviewed p.D3299 0.028 53 0% 26 61.5% - - - - - superfamily_WD40 repeat-like MMRN1 22915 genome.wustl.edu 37 4 90856506 90856506 + Missense_Mutation SNP A A C novel TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a NM_007351.2 +1 reviewed p.M559L 0.991 147 0% 115 40% - - benign(0.059) tolerated(0.33) neutral(0.028) NULL BMPR1B 658 genome.wustl.edu 37 4 96051103 96051103 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a NM_001203.2 +1 reviewed p.E226* 1.000 224 0% 202 40.6% - - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase SPOCK3 50859 genome.wustl.edu 37 4 168155291 168155292 + Frame_Shift_Del DEL CA CA - novel TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a NM_016950.2 -1 validated p.A12fs 1.000:1.000 - - - - - - - - - NULL PIK3R1 5295 genome.wustl.edu 37 5 67589562 67589562 + Missense_Mutation SNP T T G novel TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a NM_181523.1 +1 reviewed p.I442S 1.000 117 0% 109 47.7% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL PIK3R1 5295 genome.wustl.edu 37 5 67589620 67589620 + Frame_Shift_Del DEL A A - novel TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a NM_181523.1 +1 reviewed p.E462fs 0.234 - - - - - - - - - NULL PIK3R1 5295 genome.wustl.edu 37 5 67589622 67589623 + Frame_Shift_Del DEL AA AA - novel TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 AA AA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a NM_181523.1 +1 reviewed p.E462fs 1.000:1.000 - - - - - - - - - NULL SLC23A1 9963 genome.wustl.edu 37 5 138716569 138716569 + Silent SNP C C T novel TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a NM_152685.3 -1 reviewed p.P105 0.009 12 0% 22 31.8% - - - - - HMMPfam_Xan_ur_permease TSPO2 222642 genome.wustl.edu 37 6 41010878 41010878 + Missense_Mutation SNP G G T novel TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a NM_001010873.2 +1 validated p.A52S 0.001 258 0% 178 47.8% - - benign(0.121) tolerated(0.13) neutral(0.262) HMMPfam_TspO_MBR BAZ1B 9031 genome.wustl.edu 37 7 72903688 72903688 + Missense_Mutation SNP G G A novel TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a NM_032408.3 -1 validated p.R243C 1.000 125 0% 132 43.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SLC25A40 55972 genome.wustl.edu 37 7 87485696 87485696 + Missense_Mutation SNP G G A novel TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a ENST00000429674 -1 known p.R36C 0.004 248 0% 220 45.5% - - unknown(0) - - NULL ZAN 7455 genome.wustl.edu 37 7 100344204 100344204 + Silent SNP G G A novel TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a NM_003386.1 +1 reviewed p.G270 0.186 67 0% 57 36.8% - - - - - HMMPfam_MAM,HMMSmart_SM00137 SHB 6461 genome.wustl.edu 37 9 37955915 37955915 + Missense_Mutation SNP T T A novel TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a NM_003028.2 -1 validated p.E397D 0.960 55 0% 49 40.8% - - possibly_damaging(0.837) tolerated(0.07) deleterious(0.639) superfamily_SH2 domain BSPRY 54836 genome.wustl.edu 37 9 116132395 116132395 + Silent SNP C C G novel TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a NM_017688.2 +1 validated p.A394 0.169 91 0% 86 47.7% - - - - - HMMPfam_SPRY,HMMSmart_SM00449 RET 5979 genome.wustl.edu 37 10 43610086 43610086 + Missense_Mutation SNP G G A rs184498773 by1000genomes TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a NM_020975.4 +1 reviewed p.A680T 0.888 50 0% 54 46.3% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL PTEN 5728 genome.wustl.edu 37 10 89692892 89692892 + Missense_Mutation SNP G G T novel TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a ENST00000371953 +1 known p.A126S 1.000 382 0% 383 39.2% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_DSPc,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II PTEN 5728 genome.wustl.edu 37 10 89720817 89720817 + Missense_Mutation SNP A A C rs121913291 TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a ENST00000371953 +1 known p.N323T 1.000 414 0% 461 41% - - benign(0) tolerated(0.38) neutral(0.018) superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 PTEN 5728 genome.wustl.edu 37 10 89725043 89725043 + Splice_Site SNP G G A novel TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a ENST00000371953 +1 known e9-1 1.000 103 0% 99 47.5% - - - - - - FGFR2 2263 genome.wustl.edu 37 10 123258034 123258034 + Missense_Mutation SNP A A T rs121913476 TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a NM_022970.3 -1 reviewed p.N550K 1.000 51 0% 76 32.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like OR5D16 390144 genome.wustl.edu 37 11 55606741 55606741 + Missense_Mutation SNP G G T novel TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a NM_001005496.1 +1 provisional p.G172C 0.001 305 0% 290 45.2% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,superfamily_SSF81321 FAM111A 63901 genome.wustl.edu 37 11 58916408 58916408 + Silent SNP C C T novel TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a NM_001142519.1 +1 validated p.I21 0.000 81 0% 127 38.6% - - - - - NULL TAS2R30 259293 genome.wustl.edu 37 12 11286214 11286214 + Silent SNP C C T novel TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a NM_001097643.1 -1 provisional p.Q210 0.017 655 0% 539 38.2% - - - - - HMMPfam_TAS2R,superfamily_Family A G protein-coupled receptor-like KIAA1467 57613 genome.wustl.edu 37 12 13220149 13220149 + Nonsense_Mutation SNP C C G novel TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a NM_020853.1 +1 validated p.S354* 0.959 125 0% 123 38.2% - - - - - NULL MED13L 23389 genome.wustl.edu 37 12 116446900 116446900 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a NM_015335.3 -1 validated p.R440* 0.995 169 0% 185 42.7% - - - - - NULL MLNR 2862 genome.wustl.edu 37 13 49796255 49796255 + Missense_Mutation SNP G G A novel TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a ENST00000398307 +1 known p.A378T 0.029 186 0% 138 46.4% - - unknown(0) - - NULL TRIM9 114088 genome.wustl.edu 37 14 51561057 51561057 + Missense_Mutation SNP G G A novel TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a NM_015163.5 -1 reviewed p.R201W 1.000 33 0% 37 45.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00336 DIO3 1735 genome.wustl.edu 37 14 102028448 102028448 + Silent SNP C C T novel TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a NM_001362.3 +1 reviewed p.D179 1.000 41 0% 20 50% - - - - - HMMPfam_T4_deiodinase TECPR2 9895 genome.wustl.edu 37 14 102904460 102904460 + Silent SNP G G A novel TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a NM_014844.3 +1 validated p.L832 1.000 104 0% 74 54.1% - - - - - NULL CDAN1 146059 genome.wustl.edu 37 15 43028233 43028233 + Missense_Mutation SNP C C T novel TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a NM_138477.2 -1 reviewed p.E205K 1.000 59 0% 32 56.2% - - probably_damaging(0.963) tolerated(0.22) neutral(0.448) NULL XYLT1 64131 genome.wustl.edu 37 16 17232374 17232374 + Silent SNP C C T novel TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a NM_022166.3 -1 reviewed p.T534 0.946 72 0% 64 48.4% - - - - - HMMPfam_Branch SLC12A3 6559 genome.wustl.edu 37 16 56926062 56926062 + Silent SNP C C T novel TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a NM_000339.2 +1 reviewed p.V812 0.092 74 0% 68 47.1% - - - - - NULL ENSG00000247185 0 genome.wustl.edu 37 17 29096748 29096749 + RNA INS - - AT rs59722699 byCluster;by1000genomes TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a ENST00000499895 +1 known NULL 0.000:0.000 - - - - - - - - - - RGS9 8787 genome.wustl.edu 37 17 63164391 63164391 + Silent SNP C C A novel TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a NM_003835.3 +1 reviewed p.R192 0.999 67 0% 41 41.5% - - - - - NULL HELZ 9931 genome.wustl.edu 37 17 65105571 65105571 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a NM_014877.3 -1 validated p.Q1384* 1.000 214 0.5% 195 45.1% - - - - - NULL EXOC7 23265 genome.wustl.edu 37 17 74097902 74097902 + Missense_Mutation SNP C C T novel TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a NM_001145297.2 -1 validated p.E57K 1.000 104 0% 112 45.5% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ENSG00000188314 0 genome.wustl.edu 37 19 9346183 9346183 + Missense_Mutation SNP C C T novel TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a ENST00000344049 +1 known p.R17W 0.999 172 0% 182 47.8% - - benign(0.101) deleterious(0) neutral(0.452) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 LDLR 3949 genome.wustl.edu 37 19 11213431 11213431 + Silent SNP C C T novel TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a NM_000527.3 +1 reviewed p.D94 1.000 81 0% 110 39.1% - - - - - HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,superfamily_LDL receptor-like module ZNF568 374900 genome.wustl.edu 37 19 37413737 37413737 + Missense_Mutation SNP T T C novel TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a NM_198539.2 +1 validated p.M22T 0.345 54 0% 73 41.1% - - benign(0.008) - - NULL TSKS 60385 genome.wustl.edu 37 19 50248524 50248524 + Silent SNP G G A novel TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a NM_021733.1 -1 reviewed p.R374 0.610 20 0% 30 60% - - - - - NULL ZNF304 57343 genome.wustl.edu 37 19 57867860 57867860 + Missense_Mutation SNP C C T novel TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a NM_020657.2 +1 validated p.S208F 0.006 217 0% 202 43.1% - - possibly_damaging(0.8) deleterious(0) deleterious(0.746) superfamily_C2H2 and C2HC zinc fingers TMEM74B 55321 genome.wustl.edu 37 20 1161829 1161829 + Missense_Mutation SNP C C T rs149321298 by1000genomes TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a NM_018354.1 -1 provisional p.R145H 0.998 103 0% 104 48.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SULF2 55959 genome.wustl.edu 37 20 46295005 46295005 + Missense_Mutation SNP G G A novel TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a NM_018837.3 -1 validated p.R602W 1.000 39 0% 62 29% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Alkaline phosphatase-like KRTAP22-1 337979 genome.wustl.edu 37 21 31973469 31973469 + Silent SNP C C A novel TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a NM_181620.1 +1 provisional p.G10 0.000 305 0% 331 44.7% - - - - - NULL TRMT2A 27037 genome.wustl.edu 37 22 20100501 20100501 + Missense_Mutation SNP C C G novel TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a NM_022727.4 -1 validated p.A527P 0.999 73 0% 57 38.6% - - possibly_damaging(0.661) deleterious(0.03) deleterious(0.598) superfamily_S-adenosyl-L-methionine-dependent methyltransferases SMARCB1 6598 genome.wustl.edu 37 22 24135794 24135794 + Missense_Mutation SNP C C T novel TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a NM_003073.3 +1 reviewed p.S94L 0.999 134 0% 136 44.1% - - benign(0.389) tolerated(0.64) neutral(0.128) NULL LIMK2 3985 genome.wustl.edu 37 22 31658666 31658666 + Missense_Mutation SNP G G A novel TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a NM_001031801.1 +1 reviewed p.R227Q 0.996 37 0% 45 51.1% - - benign(0.001) tolerated(0.38) neutral(0.018) NULL CYTH4 27128 genome.wustl.edu 37 22 37688718 37688718 + Silent SNP C C A novel TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a NM_013385.3 +1 reviewed p.R26 0.994 36 0% 39 48.7% - - - - - NULL FAM9A 171482 genome.wustl.edu 37 X 8766463 8766463 + Missense_Mutation SNP T T C novel TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a NM_174951.3 -1 validated p.E93G 0.003 299 0.3% 347 16.1% - - possibly_damaging(0.875) deleterious(0) deleterious(0.784) NULL ZFX 7543 genome.wustl.edu 37 X 24229432 24229432 + Missense_Mutation SNP G G A novel TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a NM_003410.3 +1 reviewed p.R786Q 1.000 449 0.2% 436 40.6% - - probably_damaging(0.965) deleterious(0.01) deleterious(0.812) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers MTMR8 55613 genome.wustl.edu 37 X 63488655 63488655 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a ENST00000442913 -1 known p.W429* 0.000 174 0% 203 44.3% - - probably_damaging(0.994) - - NULL ATRX 546 genome.wustl.edu 37 X 76939716 76939716 + Silent SNP G G A novel TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a NM_000489.3 -1 reviewed p.S344 1.000 303 0% 371 48.2% - - - - - NULL H2BFWT 158983 genome.wustl.edu 37 X 103268036 103268036 + Missense_Mutation SNP C C T novel TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a NM_001002916.3 -1 reviewed p.R66H 0.000 50 0% 58 43.1% - - benign(0) deleterious(0.01) neutral(0.406) superfamily_Histone-fold BCORL1 63035 genome.wustl.edu 37 X 129147887 129147887 + Missense_Mutation SNP C C T novel TCGA-B5-A0K1-01A-11W-A062-09 TCGA-B5-A0K1-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f497eb2e-0360-447d-9c8b-06a00a1d7a5e 7d1ba552-2cec-468b-ab1f-2e6dfa5e231a NM_021946.3 +1 reviewed p.P380L 0.271 25 0% 14 57.1% - - unknown(0) deleterious(0) - NULL