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 chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error LOC645089 645089 genome.wustl.edu 36 6 164603 164603 + RNA SNP C T T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 6 164603 164603 C T SNP LOC645089 XR_017608 human genbank 54_36p -1 model rna NULL NULL 0.000 - - - pseudogene ZNF596 169270 genome.wustl.edu 36 8 185538 185538 + Missense_Mutation SNP G G A novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 8 185538 185538 G A SNP ZNF596 NM_001042415 human genbank 54_36p +1 validated missense c.691 p.A231T 0.946 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors LOC644026 644026 genome.wustl.edu 36 X 404552 404552 + Silent SNP C T T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 X 404552 404552 C T SNP LOC644026 XM_001714036 human genbank 54_36p -1 model silent c.867 p.S289 0.667 NULL NULL - no_start_codon:pseudogene:no_stop_codon SLC12A7 10723 genome.wustl.edu 36 5 1131822 1131822 + Missense_Mutation SNP C C T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 5 1131822 1131822 C T SNP SLC12A7 NM_006598 human genbank 54_36p -1 validated missense c.1448 p.R483Q 0.986 HMMPfam_AA_permease HMMPfam_AA_permease - no_errors MUC5AC 4586 genome.wustl.edu 36 11 1170220 1170220 + Silent SNP C A A novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 11 1170220 1170220 C A SNP MUC5AC ENST00000358378 human ensembl 54_36p +1 known silent c.891 p.A297 0.001 NULL HMMSmart_SM00214,HMMSmart_SM00216,HMMPfam_VWD,HMMPfam_C8,superfamily_Serine proterase inhibitors,PatternScan_VWFC_1,HMMPfam_VWC,HMMPfam_Cys_knot,HMMSmart_SM00041,PatternScan_CTCK_1 - no_start_codon LOC732360 732360 genome.wustl.edu 36 12 3176716 3176716 + RNA SNP C T T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 12 3176716 3176716 C T SNP LOC732360 XR_038607 human genbank 54_36p +1 model rna NULL NULL 0.001 - - - pseudogene MEFV 4210 genome.wustl.edu 36 16 3237178 3237178 + Missense_Mutation SNP G G T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 16 3237178 3237178 G T SNP MEFV NM_000243 human genbank 54_36p -1 reviewed missense c.1426 p.Q476K 0.259 NULL superfamily_DEATH domain,HMMPfam_PAAD_DAPIN,HMMPfam_zf-B_box,HMMSmart_SM00336,superfamily_B-box zinc-binding domain,HMMSmart_SM00589,HMMPfam_SPRY,HMMSmart_SM00449 - no_errors GLIS3 169792 genome.wustl.edu 36 9 4107803 4107803 + Nonsense_Mutation SNP T T A novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 9 4107803 4107803 T A SNP GLIS3 NM_001042413 human genbank 54_36p -1 reviewed nonsense c.1675 p.R559* 1.000 HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2 - no_errors PPAPDC2 403313 genome.wustl.edu 36 9 4653126 4653126 + Missense_Mutation SNP G G A novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 9 4653126 4653126 G A SNP PPAPDC2 NM_203453 human genbank 54_36p +1 validated missense c.751 p.V251I 1.000 superfamily_AcPase_VanPerase,HMMSmart_acidPPc,HMMPfam_PAP2 superfamily_AcPase_VanPerase,HMMSmart_acidPPc,HMMPfam_PAP2 - no_errors PLD2 5338 genome.wustl.edu 36 17 4660238 4660238 + Silent SNP G G A novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 17 4660238 4660238 G A SNP PLD2 NM_002663 human genbank 54_36p +1 validated silent c.810 p.G270 0.996 superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233 superfamily_PX domain,HMMPfam_PX,HMMSmart_SM00312,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_Phospholipase D/nuclease,HMMPfam_PLDc,HMMSmart_SM00155 - no_errors FARS2 10667 genome.wustl.edu 36 6 5716531 5716531 + Missense_Mutation SNP A A G novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 6 5716531 5716531 A G SNP FARS2 NM_006567 human genbank 54_36p +1 reviewed missense c.1226 p.K409R 0.955 superfamily_Fdx_AntiC_bd,HMMPfam_FDX-ACB superfamily_SSF55681,HMMPfam_tRNA-synt_2d,superfamily_Fdx_AntiC_bd,HMMPfam_FDX-ACB - no_errors GLDC 2731 genome.wustl.edu 36 9 6526105 6526105 + Missense_Mutation SNP T T A novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 9 6526105 6526105 T A SNP GLDC NM_000170 human genbank 54_36p -1 validated missense c.2797 p.I933F 1.000 superfamily_PyrdxlP-dep_Trfase_major HMMPfam_GDC-P,superfamily_PyrdxlP-dep_Trfase_major - no_errors TP53 7157 genome.wustl.edu 36 17 7519131 7519131 + Missense_Mutation SNP C T T rs28934578 unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 17 7519131 7519131 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.524 p.R175H 1.000 HMMPfam_P53,superfamily_p53-like transcription factors HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain - no_errors OR10A3 26496 genome.wustl.edu 36 11 7916719 7916719 + Missense_Mutation SNP C C A novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 11 7916719 7916719 C A SNP OR10A3 NM_001003745 human genbank 54_36p -1 provisional missense c.925 p.V309L 0.001 NULL superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors BRPF1 7862 genome.wustl.edu 36 3 9761009 9761009 + Silent SNP A A C novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 3 9761009 9761009 A C SNP BRPF1 NM_001003694 human genbank 54_36p +1 reviewed silent c.2737 p.R913 1.000 NULL HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_EPL1,superfamily_FYVE_PHD_ZnF,HMMSmart_PHD,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_Bromodomain,HMMSmart_BROMO,HMMPfam_Bromodomain,superfamily_SSF63748,HMMPfam_PWWP,HMMSmart_PWWP - no_errors MYH8 4626 genome.wustl.edu 36 17 10250187 10250187 + Silent SNP C C G novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 17 10250187 10250187 C G SNP MYH8 NM_002472 human genbank 54_36p -1 validated silent c.2328 p.L776 0.991 superfamily_SSF52540,HMMSmart_MYSc HMMPfam_Myosin_N,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ,HMMPfam_Myosin_tail_1 - no_errors MYH1 4619 genome.wustl.edu 36 17 10339113 10339113 + Nonsense_Mutation SNP C C A novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 17 10339113 10339113 C A SNP MYH1 NM_005963 human genbank 54_36p -1 reviewed nonsense c.5326 p.E1776* 1.000 HMMPfam_Myosin_tail_1 HMMPfam_Myosin_N,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ,HMMPfam_Myosin_tail_1 - no_errors TLR7 51284 genome.wustl.edu 36 X 12813822 12813822 + Missense_Mutation SNP G G A novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 X 12813822 12813822 G A SNP TLR7 NM_016562 human genbank 54_36p +1 reviewed missense c.274 p.V92I 0.901 superfamily_L domain-like superfamily_L domain-like,HMMSmart_SM00365,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00082,HMMPfam_LRRCT,superfamily_Toll/Interleukin receptor TIR domain,HMMSmart_SM00255,HMMPfam_TIR - no_errors PRAMEF4 400735 genome.wustl.edu 36 1 12864583 12864583 + Missense_Mutation SNP T T A novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 1 12864583 12864583 T A SNP PRAMEF4 NM_001009611 human genbank 54_36p -1 validated missense c.554 p.K185M 0.086 superfamily_SSF52047 superfamily_SSF52047 - no_errors PRAMEF14 729528 genome.wustl.edu 36 1 13541712 13541712 + Missense_Mutation SNP C C T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 1 13541712 13541712 C T SNP PRAMEF14 NM_001099854 human genbank 54_36p -1 provisional missense c.1061 p.S354N 0.001 superfamily_SSF52047 superfamily_SSF52047 - no_errors USH1C 10083 genome.wustl.edu 36 11 17487553 17487553 + Missense_Mutation SNP A A G novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 11 17487553 17487553 A G SNP USH1C NM_153676 human genbank 54_36p -1 reviewed missense c.1939 p.W647R 1.000 NULL superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ - no_errors NUP153 9972 genome.wustl.edu 36 6 17737059 17737059 + Missense_Mutation SNP A A T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 6 17737059 17737059 A T SNP NUP153 NM_005124 human genbank 54_36p -1 reviewed missense c.3350 p.V1117D 0.418 NULL HMMPfam_Nup153,HMMPfam_zf-RanBP,HMMSmart_ZnF_RBZ,PatternScan_ZF_RANBP2_1,HMMPfam_Nup_retrotrp_bd - no_errors LOC645312 645312 genome.wustl.edu 36 11 18167420 18167420 + Missense_Mutation SNP G G T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 11 18167420 18167420 G T SNP LOC645312 XM_928351 human genbank 54_36p +1 model missense c.298 p.G100C 0.998 superfamily_Glycolipid transfer protein GLTP,HMMPfam_GLTP superfamily_Glycolipid transfer protein GLTP,HMMPfam_GLTP - pseudogene PRPSAP2 5636 genome.wustl.edu 36 17 18709959 18709959 + Missense_Mutation SNP T G G novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 17 18709959 18709959 T G SNP PRPSAP2 NM_002767 human genbank 54_36p +1 reviewed missense c.88 p.S30A 0.967 superfamily_SSF53271 superfamily_SSF53271,HMMPfam_RelB,HMMPfam_Pribosyltran - no_errors NSUN6 221078 genome.wustl.edu 36 10 18980117 18980117 + Missense_Mutation SNP A A G novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 10 18980117 18980117 A G SNP NSUN6 NM_182543 human genbank 54_36p -1 validated missense c.22 p.S8P 1.000 NULL superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_PUA domain-like,HMMPfam_PUA,HMMPfam_Nol1_Nop2_Fmu,PatternScan_NOL1_NOP2_SUN - no_errors TEP1 7011 genome.wustl.edu 36 14 19946381 19946381 + Missense_Mutation SNP G G A novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 14 19946381 19946381 G A SNP TEP1 NM_007110 human genbank 54_36p -1 reviewed missense c.58 p.R20W 0.992 HMMPfam_TEP1_N HMMPfam_TEP1_N,HMMPfam_TROVE,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_NACHT,HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40 - no_errors APOB 338 genome.wustl.edu 36 2 21088927 21088927 + Missense_Mutation SNP C C A novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 2 21088927 21088927 C A SNP APOB NM_000384 human genbank 54_36p -1 reviewed missense c.4318 p.V1440L 0.000 NULL superfamily_Lipovitellin-phosvitin complex beta-sheet shell regions,HMMPfam_Vitellogenin_N,HMMSmart_SM00638,superfamily_Lipovitellin-phosvitin complex superhelical domain,HMMPfam_DUF1943,HMMPfam_DUF1081 - no_errors FGF9 2254 genome.wustl.edu 36 13 21173396 21173396 + Nonsense_Mutation SNP C C A novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 13 21173396 21173396 C A SNP FGF9 NM_002010 human genbank 54_36p +1 reviewed nonsense c.449 p.S150* 0.998 superfamily_Cytokine,HMMSmart_SM00442,HMMPfam_FGF superfamily_Cytokine,HMMSmart_SM00442,HMMPfam_FGF,PatternScan_HBGF_FGF - no_errors MKRN3 7681 genome.wustl.edu 36 15 21362151 21362151 + Silent SNP T T C novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 15 21362151 21362151 T C SNP MKRN3 NM_005664 human genbank 54_36p +1 reviewed silent c.129 p.A43 0.000 NULL HMMSmart_ZnF_C3H1,HMMPfam_zf-CCCH,superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1 - no_errors NDN 4692 genome.wustl.edu 36 15 21482961 21482961 + Missense_Mutation SNP G G A novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 15 21482961 21482961 G A SNP NDN NM_002487 human genbank 54_36p -1 reviewed missense c.497 p.A166V 0.425 HMMPfam_MAGE HMMPfam_MAGE - no_errors MLLT10 8028 genome.wustl.edu 36 10 22056818 22056818 + Missense_Mutation SNP A A T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 10 22056818 22056818 A T SNP MLLT10 NM_004641 human genbank 54_36p +1 validated missense c.2066 p.N689I 1.000 NULL superfamily_FYVE_PHD_ZnF,HMMSmart_PHD,HMMPfam_PHD,PatternScan_ZF_PHD_1 - no_errors PIWIL2 55124 genome.wustl.edu 36 8 22268919 22268919 + Missense_Mutation SNP C C G novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 8 22268919 22268919 C G SNP PIWIL2 NM_018068 human genbank 54_36p +1 validated missense c.2878 p.H960D 0.998 superfamily_Ribonuclease H-like superfamily_PAZ domain,HMMPfam_PAZ,superfamily_Ribonuclease H-like,HMMPfam_Piwi - no_errors SNURF 8926 genome.wustl.edu 36 15 22758418 22758418 + Missense_Mutation SNP C C G novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 15 22758418 22758418 C G SNP SNURF NM_005678 human genbank 54_36p +1 reviewed missense c.79 p.R27G 0.996 HMMPfam_SNURF HMMPfam_SNURF - no_errors WASF3 10810 genome.wustl.edu 36 13 26157836 26157836 + Missense_Mutation SNP A A G novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 13 26157836 26157836 A G SNP WASF3 NM_006646 human genbank 54_36p +1 reviewed missense c.1363 p.K455E 1.000 HMMPfam_WH2,HMMSmart_SM00246 HMMPfam_WH2,HMMSmart_SM00246 - no_errors TCF23 150921 genome.wustl.edu 36 2 27229094 27229094 + Missense_Mutation SNP G G T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 2 27229094 27229094 G T SNP TCF23 NM_175769 human genbank 54_36p +1 provisional missense c.500 p.G167V 0.998 NULL superfamily_HLH_basic,HMMPfam_HLH,HMMSmart_HLH - no_errors PAN3 255967 genome.wustl.edu 36 13 27732642 27732642 + Missense_Mutation SNP C C G novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 13 27732642 27732642 C G SNP PAN3 NM_175854 human genbank 54_36p +1 validated missense c.707 p.P236R 1.000 NULL superfamily_Kinase_like - no_errors N6AMT1 29104 genome.wustl.edu 36 21 29179486 29179486 + Missense_Mutation SNP G G T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 21 29179486 29179486 G T SNP N6AMT1 NM_013240 human genbank 54_36p -1 reviewed missense c.53 p.A18D 0.101 HMMPfam_MTS,superfamily_S-adenosyl-L-methionine-dependent methyltransferases HMMPfam_MTS,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,PatternScan_N6_MTASE - no_errors GHRHR 2692 genome.wustl.edu 36 7 30975207 30975207 + Silent SNP C T T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 7 30975207 30975207 C T SNP GHRHR NM_000823 human genbank 54_36p +1 reviewed silent c.165 p.C55 0.738 superfamily_SSF111418,HMMSmart_HormR,HMMPfam_HRM,PatternScan_G_PROTEIN_RECEP_F2_1 superfamily_SSF111418,HMMSmart_HormR,HMMPfam_HRM,PatternScan_G_PROTEIN_RECEP_F2_1,superfamily_SSF81321,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2 - no_errors BAT2 7916 genome.wustl.edu 36 6 31707130 31707130 + Nonsense_Mutation SNP A A T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 6 31707130 31707130 A T SNP BAT2 NM_080686 human genbank 54_36p +1 reviewed nonsense c.2701 p.K901* 0.211 NULL HMMPfam_BAT2_N - no_errors TNXB 7148 genome.wustl.edu 36 6 32120897 32120897 + Silent SNP G G A novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 6 32120897 32120897 G A SNP TNXB NM_019105 human genbank 54_36p -1 reviewed silent c.10926 p.P3642 1.000 superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3 superfamily_EGF/Laminin,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_SM00181,HMMPfam_EGF_2,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,HMMSmart_SM00186,HMMPfam_Fibrinogen_C,superfamily_Fibrinogen C-terminal domain-like,PatternScan_FIBRIN_AG_C_DOMAIN - no_errors RASD2 23551 genome.wustl.edu 36 22 34277599 34277599 + Missense_Mutation SNP C C G novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 22 34277599 34277599 C G SNP RASD2 NM_014310 human genbank 54_36p +1 reviewed missense c.375 p.N125K 1.000 superfamily_SSF52540,HMMSmart_RAS,HMMPfam_Ras superfamily_SSF52540,HMMSmart_RAS,HMMPfam_Ras - no_errors MRPS6 64968 genome.wustl.edu 36 21 34367745 34367745 + Missense_Mutation SNP C C G novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 21 34367745 34367745 C G SNP MRPS6 ENST00000399312 human ensembl 54_36p +1 known missense c.58 p.R20G 0.001 NULL superfamily_Ribosomal protein S6 - no_start_codon CREB3 10488 genome.wustl.edu 36 9 35723472 35723472 + Missense_Mutation SNP C C G novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 9 35723472 35723472 C G SNP CREB3 NM_006368 human genbank 54_36p +1 reviewed missense c.425 p.P142R 1.000 superfamily_Euk_transcr_DNA superfamily_Euk_transcr_DNA,HMMPfam_bZIP_1,HMMSmart_BRLZ,PatternScan_BZIP_BASIC - no_errors ARPP-21 10777 genome.wustl.edu 36 3 35753837 35753837 + Missense_Mutation SNP G G T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 3 35753837 35753837 G T SNP ARPP-21 NM_016300 human genbank 54_36p +1 validated missense c.1623 p.M541I 0.543 NULL HMMSmart_SM00393,superfamily_R3H domain,HMMPfam_R3H - no_errors PLCG1 5335 genome.wustl.edu 36 20 39227803 39227803 + Missense_Mutation SNP C C G novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 20 39227803 39227803 C G SNP PLCG1 NM_002660 human genbank 54_36p +1 reviewed missense c.1722 p.I574M 0.826 superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_SSF50729,HMMSmart_PH,superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2 superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,PatternScan_EF_HAND_1,superfamily_SSF47473,HMMSmart_PLCXc,HMMPfam_PI-PLC-X,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2,superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3,HMMPfam_PI-PLC-Y,HMMSmart_PLCYc,superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2 - no_errors DAB2 1601 genome.wustl.edu 36 5 39418828 39418828 + Silent SNP C C T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 5 39418828 39418828 C T SNP DAB2 NM_001343 human genbank 54_36p -1 validated silent c.990 p.P330 0.005 NULL superfamily_PH domain-like,HMMSmart_SM00462,HMMPfam_PID,PatternScan_PFKB_KINASES_1 - no_errors HDAC5 10014 genome.wustl.edu 36 17 39543666 39543666 + Silent SNP C C T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 17 39543666 39543666 C T SNP HDAC5 NM_001015053 human genbank 54_36p -1 reviewed silent c.54 p.L18 1.000 NULL superfamily_Arginase/deacetylase,HMMPfam_Hist_deacetyl - no_errors TCF20 6942 genome.wustl.edu 36 22 40940697 40940697 + Missense_Mutation SNP G G A novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 22 40940697 40940697 G A SNP TCF20 NM_005650 human genbank 54_36p -1 reviewed missense c.559 p.L187F 1.000 NULL HMMSmart_SM00249 - no_errors C6 729 genome.wustl.edu 36 5 41189735 41189735 + Missense_Mutation SNP A A T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 5 41189735 41189735 A T SNP C6 NM_000065 human genbank 54_36p -1 reviewed missense c.2224 p.S742T 0.179 superfamily_Complement_control_module,HMMPfam_Sushi,HMMSmart_CCP PatternScan_EGF_2,superfamily_TSP1,HMMSmart_TSP1,HMMPfam_TSP_1,superfamily_LDL_rcpt_classA_cys-rich,HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,HMMPfam_MACPF,HMMSmart_MACPF,PatternScan_MAC_PERFORIN,PatternScan_EGF_1,superfamily_Complement_control_module,HMMPfam_Sushi,HMMSmart_CCP,HMMSmart_FIMAC,HMMSmart_KAZAL,HMMPfam_Kazal_2 - no_errors ZFP14 57677 genome.wustl.edu 36 19 41523477 41523477 + Missense_Mutation SNP C C G novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 19 41523477 41523477 C G SNP ZFP14 NM_020917 human genbank 54_36p -1 provisional missense c.1091 p.G364A 0.980 superfamily_SSF57667 superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors LOC343515 343515 genome.wustl.edu 36 1 43142149 43142149 + RNA SNP C C G novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 1 43142149 43142149 C G SNP LOC343515 XR_017310 human genbank 54_36p +1 model rna NULL NULL 0.968 - - - pseudogene TP53TG5 27296 genome.wustl.edu 36 20 43439643 43439643 + Missense_Mutation SNP C C G novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 20 43439643 43439643 C G SNP TP53TG5 NM_014477 human genbank 54_36p -1 validated missense c.73 p.E25Q 0.016 NULL NULL - no_errors NNT 23530 genome.wustl.edu 36 5 43695120 43695120 + Nonsense_Mutation SNP G G T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 5 43695120 43695120 G T SNP NNT NM_012343 human genbank 54_36p +1 reviewed nonsense c.2545 p.E849* 0.999 HMMPfam_PNTB superfamily_SSF52283,PatternScan_ALADH_PNT_1,HMMPfam_AlaDh_PNT_N,superfamily_NAD(P)-bd,HMMPfam_AlaDh_PNT_C,PatternScan_ALADH_PNT_2,HMMPfam_PNTB,superfamily_SSF52467 - no_errors ZSWIM3 140831 genome.wustl.edu 36 20 43919952 43919952 + Silent SNP C C T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 20 43919952 43919952 C T SNP ZSWIM3 NM_080752 human genbank 54_36p +1 validated silent c.81 p.S27 1.000 NULL HMMPfam_MULE,HMMPfam_SWIM,HMMSmart_ZnF_PMZ - no_errors NFKBIB 4793 genome.wustl.edu 36 19 44091220 44091220 + Missense_Mutation SNP G G T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 19 44091220 44091220 G T SNP NFKBIB NM_002503 human genbank 54_36p +1 validated missense c.979 p.D327Y 0.996 NULL superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank - no_errors TRPM2 7226 genome.wustl.edu 36 21 44613609 44613609 + Silent SNP C C T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 21 44613609 44613609 C T SNP TRPM2 NM_003307 human genbank 54_36p +1 reviewed silent c.726 p.A242 1.000 NULL HMMPfam_Ion_trans,PatternScan_CHITINASE_18,superfamily_Nudix - no_errors TRPM2 7226 genome.wustl.edu 36 21 44622067 44622067 + Missense_Mutation SNP G G A novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 21 44622067 44622067 G A SNP TRPM2 NM_003307 human genbank 54_36p +1 reviewed missense c.997 p.G333S 0.998 NULL PatternScan_CHITINASE_18,HMMPfam_Ion_trans,superfamily_Nudix - no_errors COL1A1 1277 genome.wustl.edu 36 17 45619223 45619223 + Missense_Mutation SNP G G C novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 17 45619223 45619223 G C SNP COL1A1 NM_000088 human genbank 54_36p -1 reviewed missense c.3591 p.D1197E 1.000 NULL HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,HMMPfam_Collagen,HMMSmart_SM00038,HMMPfam_COLFI - no_errors TDRD6 221400 genome.wustl.edu 36 6 46765462 46765462 + Missense_Mutation SNP G G T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 6 46765462 46765462 G T SNP TDRD6 NM_001010870 human genbank 54_36p +1 provisional missense c.1638 p.K546N 0.868 HMMPfam_TUDOR,superfamily_SSF63748,HMMSmart_TUDOR HMMSmart_TUDOR,HMMPfam_TUDOR,superfamily_SSF63748 - no_errors SOCS5 9655 genome.wustl.edu 36 2 46839863 46839863 + Nonsense_Mutation SNP G G A novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 2 46839863 46839863 G A SNP SOCS5 NM_014011 human genbank 54_36p +1 reviewed nonsense c.690 p.W230* 1.000 NULL superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2,HMMSmart_SM00253,HMMPfam_SOCS_box - no_errors PRMT2 3275 genome.wustl.edu 36 21 46905184 46905184 + Missense_Mutation SNP T T G novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 21 46905184 46905184 T G SNP PRMT2 NM_001535 human genbank 54_36p +1 validated missense c.842 p.V281G 0.990 superfamily_S-adenosyl-L-methionine-dependent methyltransferases superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_MTS - no_errors PTH1R 5745 genome.wustl.edu 36 3 46919900 46919900 + Missense_Mutation SNP G G A novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 3 46919900 46919900 G A SNP PTH1R NM_000316 human genbank 54_36p +1 reviewed missense c.1532 p.R511H 0.940 NULL superfamily_SSF111418,HMMSmart_HormR,HMMPfam_HRM,PatternScan_G_PROTEIN_RECEP_F2_1,superfamily_SSF81321,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2 - no_errors ARHGEF1 9138 genome.wustl.edu 36 19 47088516 47088516 + Missense_Mutation SNP C C G novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 19 47088516 47088516 C G SNP ARHGEF1 NM_199002 human genbank 54_36p +1 reviewed missense c.415 p.R139G 1.000 HMMPfam_RGS-like,superfamily_Regulat_G_prot_signal_superfam HMMPfam_RGS-like,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_SSF50729,HMMSmart_PH - no_errors TNFRSF21 27242 genome.wustl.edu 36 6 47362272 47362272 + Missense_Mutation SNP T T C novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 6 47362272 47362272 T C SNP TNFRSF21 NM_014452 human genbank 54_36p -1 reviewed missense c.115 p.T39A 0.905 NULL superfamily_SSF57586,HMMSmart_TNFR,PatternScan_TNFR_NGFR_1,HMMSmart_DEATH,superfamily_DEATH_like,HMMPfam_Death - no_errors ELK1 2002 genome.wustl.edu 36 X 47382487 47382487 + Silent SNP C C T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 X 47382487 47382487 C T SNP ELK1 NM_005229 human genbank 54_36p -1 reviewed silent c.693 p.S231 0.034 NULL "superfamily_""Winged helix"" DNA-binding domain,HMMPfam_Ets,HMMSmart_SM00413,PatternScan_ETS_DOMAIN_1,PatternScan_ETS_DOMAIN_2" - no_errors LOC643507 643507 genome.wustl.edu 36 X 47585979 47585979 + RNA SNP A A T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 X 47585979 47585979 A T SNP LOC643507 XR_016898 human genbank 54_36p -1 model rna NULL NULL 0.996 - - - pseudogene OR4X2 119764 genome.wustl.edu 36 11 48224063 48224063 + Missense_Mutation SNP A A C novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 11 48224063 48224063 A C SNP OR4X2 NM_001004727 human genbank 54_36p +1 provisional missense c.832 p.I278L 0.999 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 - no_errors SLC27A2 11001 genome.wustl.edu 36 15 48306511 48306511 + Missense_Mutation SNP C C T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 15 48306511 48306511 C T SNP SLC27A2 NM_003645 human genbank 54_36p +1 reviewed missense c.1301 p.P434L 1.000 superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding,PatternScan_AMP_BINDING - no_errors TMEM89 440955 genome.wustl.edu 36 3 48633927 48633927 + Silent SNP C C A novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 3 48633927 48633927 C A SNP TMEM89 NM_001008269 human genbank 54_36p -1 provisional silent c.267 p.R89 0.003 NULL NULL - no_errors PPP1R3F 89801 genome.wustl.edu 36 X 49029405 49029405 + Missense_Mutation SNP C C A novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 X 49029405 49029405 C A SNP PPP1R3F NM_033215 human genbank 54_36p +1 validated missense c.1309 p.P437T 0.708 NULL HMMPfam_CBM_21 - no_errors SAPS2 9701 genome.wustl.edu 36 22 49216677 49216677 + Silent SNP C C T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 22 49216677 49216677 C T SNP SAPS2 NM_014678 human genbank 54_36p +1 validated silent c.1335 p.H445 1.000 HMMPfam_SAPS HMMPfam_SAPS - no_errors ENSG00000205034 0 genome.wustl.edu 36 11 49853086 49853086 + Missense_Mutation SNP T T C novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 11 49853086 49853086 T C SNP ENSG00000205034 ENST00000334042 human ensembl 54_36p +1 known missense c.146 p.L49P 0.942 NULL NULL - no_start_codon:no_stop_codon SNTG1 54212 genome.wustl.edu 36 8 51513708 51513708 + Missense_Mutation SNP T T C novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 8 51513708 51513708 T C SNP SNTG1 NM_018967 human genbank 54_36p +1 reviewed missense c.215 p.I72T 1.000 superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228 superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,HMMSmart_SM00233,superfamily_PH domain-like - no_errors PCBP2 5094 genome.wustl.edu 36 12 52147334 52147334 + Silent SNP C C T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 12 52147334 52147334 C T SNP PCBP2 NM_005016 human genbank 54_36p +1 reviewed silent c.789 p.T263 1.000 NULL HMMSmart_KH,superfamily_SSF54791,HMMPfam_KH_1 - no_errors NTF6B 0 genome.wustl.edu 36 19 54233691 54233691 + Missense_Mutation SNP C C G novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 19 54233691 54233691 C G SNP NTF6B ENST00000391533 human ensembl 54_36p -1 known missense c.631 p.G211R 0.382 superfamily_SSF57501,HMMPfam_NGF,HMMSmart_NGF superfamily_SSF57501,HMMPfam_NGF,HMMSmart_NGF - no_start_codon MAGED2 10916 genome.wustl.edu 36 X 54852891 54852891 + Silent SNP A A T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 X 54852891 54852891 A T SNP MAGED2 NM_014599 human genbank 54_36p +1 reviewed silent c.57 p.S19 1.000 NULL HMMPfam_MAGE - no_errors FAM83B 222584 genome.wustl.edu 36 6 54912707 54912707 + Missense_Mutation SNP G G T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 6 54912707 54912707 G T SNP FAM83B NM_001010872 human genbank 54_36p +1 validated missense c.979 p.D327Y 1.000 NULL HMMPfam_DUF1669,superfamily_SSF56024 - no_errors OR8H3 390152 genome.wustl.edu 36 11 55646655 55646655 + Silent SNP C C A novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 11 55646655 55646655 C A SNP OR8H3 NM_001005201 human genbank 54_36p +1 provisional silent c.231 p.V77 0.000 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors OR8H1 219469 genome.wustl.edu 36 11 55815089 55815089 + Missense_Mutation SNP A A G novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 11 55815089 55815089 A G SNP OR8H1 NM_001005199 human genbank 54_36p -1 provisional missense c.26 p.V9A 0.010 superfamily_Family A G protein-coupled receptor-like superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors KIF5A 3798 genome.wustl.edu 36 12 56252170 56252170 + Silent SNP A A G novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 12 56252170 56252170 A G SNP KIF5A NM_004984 human genbank 54_36p +1 reviewed silent c.1422 p.Q474 0.988 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00129,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_Prefoldin - no_errors PPAT 5471 genome.wustl.edu 36 4 56956292 56956292 + Missense_Mutation SNP C C G novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 4 56956292 56956292 C G SNP PPAT NM_002703 human genbank 54_36p -1 reviewed missense c.1537 p.V513L 1.000 superfamily_PRTase-like HMMPfam_GATase_2,superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases),superfamily_PRTase-like,HMMPfam_Pribosyltran - no_errors TMX2 51075 genome.wustl.edu 36 11 57262015 57262015 + Missense_Mutation SNP C C G novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 11 57262015 57262015 C G SNP TMX2 NM_015959 human genbank 54_36p +1 validated missense c.305 p.T102R 0.982 NULL superfamily_Thioredoxin-like,HMMPfam_Thioredoxin - no_errors GLYATL1 92292 genome.wustl.edu 36 11 58479690 58479690 + Missense_Mutation SNP G G T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 11 58479690 58479690 G T SNP GLYATL1 NM_080661 human genbank 54_36p +1 provisional missense c.616 p.D206Y 0.024 HMMPfam_Gly_acyl_tr_N,superfamily_Acyl_CoA_acyltransferase HMMPfam_Gly_acyl_tr_N,superfamily_Acyl_CoA_acyltransferase,HMMPfam_Gly_acyl_tr_C - no_errors TANC2 26115 genome.wustl.edu 36 17 58852249 58852249 + Missense_Mutation SNP A G G novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 17 58852249 58852249 A G SNP TANC2 NM_025185 human genbank 54_36p +1 validated missense c.5174 p.Y1725C 1.000 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMPfam_Ank,HMMSmart_SM00028,superfamily_TPR-like,HMMPfam_TPR_1 - no_errors CACNG6 59285 genome.wustl.edu 36 19 59194777 59194777 + Missense_Mutation SNP G G T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 19 59194777 59194777 G T SNP CACNG6 NM_145814 human genbank 54_36p +1 reviewed missense c.484 p.V162L 1.000 NULL NULL - no_errors LILRA4 23547 genome.wustl.edu 36 19 59541302 59541302 + Silent SNP G G A novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 19 59541302 59541302 G A SNP LILRA4 NM_012276 human genbank 54_36p -1 reviewed silent c.372 p.T124 0.045 superfamily_Immunoglobulin superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig - no_errors ZSCAN4 201516 genome.wustl.edu 36 19 62882062 62882062 + Missense_Mutation SNP C C T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 19 62882062 62882062 C T SNP ZSCAN4 NM_152677 human genbank 54_36p +1 validated missense c.1279 p.P427S 0.001 NULL HMMPfam_SCAN,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors SLC22A9 114571 genome.wustl.edu 36 11 62894443 62894443 + Missense_Mutation SNP G G T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 11 62894443 62894443 G T SNP SLC22A9 NM_080866 human genbank 54_36p +1 validated missense c.339 p.M113I 0.010 superfamily_MFS general substrate transporter superfamily_MFS general substrate transporter,HMMPfam_MFS_1 - no_errors KIAA0984 23329 genome.wustl.edu 36 12 63523492 63523492 + Missense_Mutation SNP T C C novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 12 63523492 63523492 T C SNP KIAA0984 XM_037557 human genbank 54_36p +1 model missense c.1487 p.M496T 1.000 superfamily_RabGAP_TBC superfamily_RabGAP_TBC,HMMPfam_TBC,HMMSmart_TBC - no_errors LOC649395 649395 genome.wustl.edu 36 7 63532055 63532055 + RNA SNP G G A novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 7 63532055 63532055 G A SNP LOC649395 XR_037228 human genbank 54_36p +1 model rna NULL NULL 0.998 - - - pseudogene AR 367 genome.wustl.edu 36 X 66859543 66859543 + Missense_Mutation SNP G G C novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 X 66859543 66859543 G C SNP AR NM_000044 human genbank 54_36p +1 reviewed missense c.2599 p.V867L 1.000 superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep HMMPfam_Androgen_recep,HMMSmart_SM00399,HMMPfam_zf-C4,superfamily_Glucocorticoid receptor-like (DNA-binding domain),PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep - no_errors SLC8A3 6547 genome.wustl.edu 36 14 69585360 69585360 + Missense_Mutation SNP T T C novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 14 69585360 69585360 T C SNP SLC8A3 NM_183002 human genbank 54_36p -1 reviewed missense c.2284 p.I762V 1.000 NULL HMMPfam_Na_Ca_ex,HMMSmart_SM00237,HMMPfam_Calx-beta - no_errors LOC642590 642590 genome.wustl.edu 36 6 71375598 71375598 + RNA SNP T T C novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 6 71375598 71375598 T C SNP LOC642590 XR_016251 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene TRIM50 135892 genome.wustl.edu 36 7 72365202 72365202 + Missense_Mutation SNP C C T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 7 72365202 72365202 C T SNP TRIM50 NM_178125 human genbank 54_36p -1 provisional missense c.1115 p.R372H 0.914 HMMPfam_SPRY,HMMSmart_SM00449 superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_SM00336,HMMSmart_SM00589,HMMPfam_SPRY,HMMSmart_SM00449 - no_errors GLIPR1L2 144321 genome.wustl.edu 36 12 74102969 74102969 + Missense_Mutation SNP A A C novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 12 74102969 74102969 A C SNP GLIPR1L2 NM_152436 human genbank 54_36p +1 provisional missense c.603 p.R201S 0.944 superfamily_SCP-like_extracellular superfamily_SCP-like_extracellular,HMMSmart_SCP,HMMPfam_SCP - no_errors SALL3 27164 genome.wustl.edu 36 18 74854281 74854281 + Silent SNP G G A novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 18 74854281 74854281 G A SNP SALL3 NM_171999 human genbank 54_36p +1 validated silent c.1302 p.A434 0.999 HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_C2H2 and C2HC zinc fingers HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_C2H2 and C2HC zinc fingers - no_errors MAGEE1 57692 genome.wustl.edu 36 X 75566589 75566589 + Missense_Mutation SNP T T C novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 X 75566589 75566589 T C SNP MAGEE1 NM_020932 human genbank 54_36p +1 validated missense c.1862 p.F621S 0.947 HMMPfam_MAGE HMMPfam_MAGE - no_errors C11orf30 56946 genome.wustl.edu 36 11 75934680 75934680 + Missense_Mutation SNP G G T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 11 75934680 75934680 G T SNP C11orf30 NM_020193 human genbank 54_36p +1 validated missense c.3465 p.M1155I 1.000 NULL HMMPfam_ENT - no_errors DTX2 113878 genome.wustl.edu 36 7 75972778 75972778 + Missense_Mutation SNP A A T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 7 75972778 75972778 A T SNP DTX2 NM_001102594 human genbank 54_36p +1 validated missense c.1793 p.D598V 1.000 NULL HMMPfam_WWE,HMMSmart_SM00678,superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4 - no_errors ADNP2 22850 genome.wustl.edu 36 18 75995072 75995072 + Missense_Mutation SNP A A G novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 18 75995072 75995072 A G SNP ADNP2 NM_014913 human genbank 54_36p +1 validated missense c.785 p.K262R 0.995 NULL superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Homeodomain-like,HMMSmart_SM00389 - no_errors KIAA1303 57521 genome.wustl.edu 36 17 76548546 76548546 + Missense_Mutation SNP G G C novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 17 76548546 76548546 G C SNP KIAA1303 NM_020761 human genbank 54_36p +1 validated missense c.3551 p.G1184A 1.000 superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40 superfamily_ARM repeat,HMMPfam_HEAT,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40 - no_errors IMPG1 3617 genome.wustl.edu 36 6 76771805 76771805 + Missense_Mutation SNP C C G novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 6 76771805 76771805 C G SNP IMPG1 NM_001563 human genbank 54_36p -1 provisional missense c.1054 p.A352P 0.002 NULL superfamily_SSF82671,HMMPfam_SEA,HMMSmart_SEA - no_errors BRWD3 254065 genome.wustl.edu 36 X 79819272 79819272 + Missense_Mutation SNP T T A novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 X 79819272 79819272 T A SNP BRWD3 NM_153252 human genbank 54_36p -1 validated missense c.4901 p.D1634V 1.000 NULL HMMSmart_SM00320,HMMPfam_WD40,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,PatternScan_WD_REPEATS_1,superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain - no_errors ACSS3 79611 genome.wustl.edu 36 12 80171238 80171238 + Missense_Mutation SNP G G C novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 12 80171238 80171238 G C SNP ACSS3 NM_024560 human genbank 54_36p +1 validated missense c.1741 p.V581L 1.000 superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding,PatternScan_AMP_BINDING - no_errors KRT18P24 340460 genome.wustl.edu 36 9 80841902 80841902 + RNA SNP A A T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 9 80841902 80841902 A T SNP KRT18P24 XR_016865 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene SEL1L 6400 genome.wustl.edu 36 14 81063827 81063827 + Missense_Mutation SNP C C T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 14 81063827 81063827 C T SNP SEL1L NM_005065 human genbank 54_36p -1 validated missense c.79 p.G27S 0.989 NULL superfamily_Kringle-like,HMMSmart_SM00059,HMMPfam_fn2,PatternScan_FN2_1,HMMPfam_Sel1,HMMSmart_SM00671,superfamily_HCP-like - no_errors CCDC90B 60492 genome.wustl.edu 36 11 82650625 82650625 + Missense_Mutation SNP C C G novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 11 82650625 82650625 C G SNP CCDC90B NM_021825 human genbank 54_36p -1 provisional missense c.741 p.L247F 1.000 HMMPfam_DUF1640 HMMPfam_DUF1640 - no_errors CD8B 926 genome.wustl.edu 36 2 86896285 86896285 + Missense_Mutation SNP T T C novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 2 86896285 86896285 T C SNP CD8B NM_172213 human genbank 54_36p -1 reviewed missense c.688 p.T230A 0.000 NULL superfamily_SSF48726,HMMPfam_V-set,HMMSmart_IG - no_errors PTPN21 11099 genome.wustl.edu 36 14 88015230 88015230 + Silent SNP G G A novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 14 88015230 88015230 G A SNP PTPN21 NM_007039 human genbank 54_36p -1 reviewed silent c.2298 p.D766 0.005 NULL HMMSmart_SM00295,superfamily_Ubiquitin-like,HMMPfam_FERM_N,PatternScan_FERM_1,superfamily_Second domain of FERM,HMMPfam_FERM_M,PatternScan_FERM_2,superfamily_PH domain-like,HMMPfam_FERM_C,superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1 - no_errors AFF1 4299 genome.wustl.edu 36 4 88245985 88245985 + Missense_Mutation SNP C C A novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 4 88245985 88245985 C A SNP AFF1 NM_005935 human genbank 54_36p +1 validated missense c.1319 p.T440N 0.328 HMMPfam_AF-4 HMMPfam_AF-4 - no_errors LOC100130134 0 genome.wustl.edu 36 X 89181468 89181468 + RNA SNP C C T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 X 89181468 89181468 C T SNP LOC100130134 XR_037810 human genbank 54_36p -1 model rna NULL NULL 0.917 - - - pseudogene LOC100131364 0 genome.wustl.edu 36 11 89656265 89656265 + Missense_Mutation SNP C C T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 11 89656265 89656265 C T SNP LOC100131364 XM_001725122 human genbank 54_36p -1 model missense c.133 p.D45N 1.000 NULL NULL - no_errors DECR1 1666 genome.wustl.edu 36 8 91126353 91126353 + Missense_Mutation SNP T T G novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 8 91126353 91126353 T G SNP DECR1 NM_001359 human genbank 54_36p +1 reviewed missense c.839 p.L280R 1.000 superfamily_NAD(P)-bd PatternScan_ADH_SHORT,superfamily_NAD(P)-bd,HMMPfam_adh_short - no_errors GPC5 2262 genome.wustl.edu 36 13 91206651 91206651 + Nonsense_Mutation SNP G G A novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 13 91206651 91206651 G A SNP GPC5 NM_004466 human genbank 54_36p +1 reviewed nonsense c.1256 p.W419* 1.000 HMMPfam_Glypican HMMPfam_Glypican,PatternScan_GLYPICAN - no_errors PHF2 5253 genome.wustl.edu 36 9 95478902 95478902 + Missense_Mutation SNP C C T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 9 95478902 95478902 C T SNP PHF2 NM_005392 human genbank 54_36p +1 reviewed missense c.3038 p.P1013L 0.970 NULL superfamily_FYVE_PHD_ZnF,HMMSmart_PHD,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_SSF51197,HMMSmart_JmjC,HMMPfam_JmjC - no_errors COPS6 10980 genome.wustl.edu 36 7 99527308 99527308 + Missense_Mutation SNP G G A novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 7 99527308 99527308 G A SNP COPS6 NM_006833 human genbank 54_36p +1 reviewed missense c.944 p.R315Q 1.000 NULL HMMPfam_Mov34,HMMSmart_SM00232 - no_errors HEMGN 55363 genome.wustl.edu 36 9 99732335 99732335 + Missense_Mutation SNP G G A novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 9 99732335 99732335 G A SNP HEMGN NM_018437 human genbank 54_36p -1 validated missense c.1163 p.T388I 0.797 NULL NULL - no_errors RNF149 284996 genome.wustl.edu 36 2 101271882 101271882 + Missense_Mutation SNP C C T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 2 101271882 101271882 C T SNP RNF149 NM_173647 human genbank 54_36p -1 provisional missense c.848 p.R283K 1.000 superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4 PatternScan_ZF_RING_1,superfamily_SSF52025,HMMPfam_PA,superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4 - no_errors LOC392713 392713 genome.wustl.edu 36 7 101766195 101766195 + Missense_Mutation SNP C C A novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 7 101766195 101766195 C A SNP LOC392713 XM_001718158 human genbank 54_36p +1 model missense c.342 p.H114Q 0.986 superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase - pseudogene NT5DC3 51559 genome.wustl.edu 36 12 102695740 102695740 + Missense_Mutation SNP C C A novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 12 102695740 102695740 C A SNP NT5DC3 NM_001031701 human genbank 54_36p -1 validated missense c.1644 p.K548N 0.689 NULL superfamily_HAD-like,HMMPfam_5_nucleotid - no_errors POU3F3 5455 genome.wustl.edu 36 2 104839233 104839233 + Missense_Mutation SNP C C T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 2 104839233 104839233 C T SNP POU3F3 NM_006236 human genbank 54_36p +1 provisional missense c.833 p.A278V 1.000 NULL HMMPfam_Pou,HMMSmart_POU,superfamily_Lambda_like_DNA,PatternScan_POU_1,PatternScan_POU_2,superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1 - no_errors RGPD3 653489 genome.wustl.edu 36 2 106407073 106407073 + Missense_Mutation SNP T T G novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 2 106407073 106407073 T G SNP RGPD3 ENST00000304514 human ensembl 54_36p -1 known missense c.3782 p.D1261A 0.772 NULL superfamily_SSF48452,HMMPfam_TPR_1,superfamily_SSF50729,HMMSmart_RanBD,HMMPfam_Ran_BP1,HMMPfam_GRIP,HMMSmart_Grip - no_errors ZNF462 58499 genome.wustl.edu 36 9 108725588 108725588 + Missense_Mutation SNP G G T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 9 108725588 108725588 G T SNP ZNF462 NM_021224 human genbank 54_36p +1 validated missense c.103 p.D35Y 1.000 NULL superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_beta-sandwich domain of Sec23/24 - no_errors ATXN2 6311 genome.wustl.edu 36 12 110407475 110407475 + Missense_Mutation SNP G G T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 12 110407475 110407475 G T SNP ATXN2 NM_002973 human genbank 54_36p -1 reviewed missense c.2981 p.A994D 1.000 NULL superfamily_Sm-like ribonucleoproteins,HMMPfam_LsmAD,HMMPfam_PAM2 - no_errors LRRN3 54674 genome.wustl.edu 36 7 110550112 110550112 + Silent SNP C C T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 7 110550112 110550112 C T SNP LRRN3 NM_001099658 human genbank 54_36p +1 validated silent c.48 p.I16 1.000 NULL superfamily_L domain-like,HMMSmart_SM00013,HMMSmart_SM00365,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00082,HMMPfam_LRRCT,superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_fn3,superfamily_Fibronectin type III - no_errors ARHGEF7 8874 genome.wustl.edu 36 13 110751828 110751828 + Missense_Mutation SNP G G T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 13 110751828 110751828 G T SNP ARHGEF7 NM_003899 human genbank 54_36p +1 reviewed missense c.1766 p.S589I 1.000 NULL superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3,superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,PatternScan_DH_1,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH - no_errors PTPN11 5781 genome.wustl.edu 36 12 111411290 111411290 + Silent SNP A A T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 12 111411290 111411290 A T SNP PTPN11 NM_002834 human genbank 54_36p +1 reviewed silent c.1527 p.A509 0.868 superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404 superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2,superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1 - no_errors ALPK1 80216 genome.wustl.edu 36 4 113523139 113523139 + Silent SNP C C T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 4 113523139 113523139 C T SNP ALPK1 NM_001102406 human genbank 54_36p +1 validated silent c.258 p.A86 0.988 NULL superfamily_Protein kinase-like (PK-like),HMMSmart_SM00811,HMMPfam_Alpha_kinase - no_errors HS3ST5 222537 genome.wustl.edu 36 6 114485237 114485237 + Silent SNP C C T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 6 114485237 114485237 C T SNP HS3ST5 NM_153612 human genbank 54_36p -1 validated silent c.918 p.A306 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Sulfotransfer_1 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Sulfotransfer_1 - no_errors TNC 3371 genome.wustl.edu 36 9 116866127 116866127 + Missense_Mutation SNP C C G novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 9 116866127 116866127 C G SNP TNC NM_002160 human genbank 54_36p -1 validated missense c.3529 p.G1177R 0.996 HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_EGF,HMMPfam_EGF_2,HMMPfam_EGF,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like,HMMSmart_FBG,HMMPfam_Fibrinogen_C,superfamily_Fibrinogen_a/b/g_C - no_errors RFC5 5985 genome.wustl.edu 36 12 116941272 116941272 + Silent SNP C C T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 12 116941272 116941272 C T SNP RFC5 NM_007370 human genbank 54_36p +1 reviewed silent c.78 p.Y26 1.000 NULL superfamily_SSF52540,HMMSmart_AAA,HMMPfam_AAA,HMMPfam_Rep_fac_C,superfamily_Pol_clamp_load_C - no_errors SPPL3 121665 genome.wustl.edu 36 12 119687204 119687204 + Missense_Mutation SNP G A A novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 12 119687204 119687204 G A SNP SPPL3 NM_139015 human genbank 54_36p -1 validated missense c.1136 p.S379F 1.000 NULL HMMPfam_Peptidase_A22B,HMMSmart_SM00730 - no_errors HSD3B1 3283 genome.wustl.edu 36 1 119851725 119851725 + Silent SNP T T C novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 1 119851725 119851725 T C SNP HSD3B1 NM_000862 human genbank 54_36p +1 validated silent c.103 p.L35 0.379 superfamily_NAD(P)-bd,HMMPfam_3Beta_HSD superfamily_NAD(P)-bd,HMMPfam_3Beta_HSD - no_errors SORL1 6653 genome.wustl.edu 36 11 120854149 120854149 + Missense_Mutation SNP C C G novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 11 120854149 120854149 C G SNP SORL1 NM_003105 human genbank 54_36p +1 reviewed missense c.515 p.A172G 0.902 superfamily_Oligoxyloglucan reducing end-specific cellobiohydrolase,HMMSmart_SM00602 superfamily_Oligoxyloglucan reducing end-specific cellobiohydrolase,HMMSmart_SM00602,superfamily_YWTD domain,HMMSmart_SM00135,HMMPfam_Ldl_recept_b,PatternScan_EGF_2,superfamily_LDL receptor-like module,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,PatternScan_COPPER_BLUE,superfamily_Fibronectin type III,HMMPfam_fn3,HMMSmart_SM00060 - no_errors SLC41A3 54946 genome.wustl.edu 36 3 127208746 127208746 + Silent SNP G G A novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 3 127208746 127208746 G A SNP SLC41A3 NM_001008485 human genbank 54_36p -1 validated silent c.1267 p.L423 0.996 NULL HMMPfam_MgtE,PatternScan_PEROXIDASE_2 - no_errors BIN1 274 genome.wustl.edu 36 2 127542232 127542232 + Missense_Mutation SNP G G C novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 2 127542232 127542232 G C SNP BIN1 NM_139343 human genbank 54_36p -1 reviewed missense c.589 p.Q197E 1.000 HMMSmart_SM00721,HMMPfam_BAR HMMSmart_SM00721,HMMPfam_BAR,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326 - no_errors XPNPEP2 7512 genome.wustl.edu 36 X 128729340 128729340 + Silent SNP T T C novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 X 128729340 128729340 T C SNP XPNPEP2 NM_003399 human genbank 54_36p +1 reviewed silent c.1821 p.S607 0.547 superfamily_Peptidase_M24_cat_core superfamily_SSF53092,HMMPfam_Creatinase_N,superfamily_Peptidase_M24_cat_core,HMMPfam_Peptidase_M24,PatternScan_PROLINE_PEPTIDASE - no_errors LOC100128615 0 genome.wustl.edu 36 3 130049773 130049773 + Silent SNP G C C novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 3 130049773 130049773 G C SNP LOC100128615 XM_001717892 human genbank 54_36p -1 model silent c.1317 p.A439 0.021 HMMSmart_SM00220 superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase associated domain 1 KA1 - no_errors SAMD3 154075 genome.wustl.edu 36 6 130578054 130578054 + Nonsense_Mutation SNP C C A novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 6 130578054 130578054 C A SNP SAMD3 NM_001017373 human genbank 54_36p -1 validated nonsense c.58 p.E20* 1.000 superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1 superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1 - no_errors ATP2C1 27032 genome.wustl.edu 36 3 132165539 132165539 + Missense_Mutation SNP A A T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 3 132165539 132165539 A T SNP ATP2C1 NM_001001486 human genbank 54_36p +1 reviewed missense c.934 p.I312F 1.000 superfamily_Calcium ATPase transmembrane domain M,HMMPfam_E1-E2_ATPase HMMPfam_Cation_ATPase_N,superfamily_Calcium ATPase transmembrane domain M,HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,superfamily_HAD-like,HMMPfam_Hydrolase,PatternScan_ATPASE_E1_E2,superfamily_Metal cation-transporting ATPase ATP-binding domain N,HMMPfam_Cation_ATPase_C - no_errors NACC2 138151 genome.wustl.edu 36 9 138043637 138043637 + Missense_Mutation SNP G G T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 9 138043637 138043637 G T SNP NACC2 NM_144653 human genbank 54_36p -1 validated missense c.1310 p.A437D 0.987 HMMPfam_BEN superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,HMMPfam_BEN - no_errors FAM62C 83850 genome.wustl.edu 36 3 139656766 139656766 + Missense_Mutation SNP A A G novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 3 139656766 139656766 A G SNP FAM62C NM_031913 human genbank 54_36p +1 validated missense c.410 p.E137G 1.000 NULL superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2 - no_errors EHMT1 79813 genome.wustl.edu 36 9 139827761 139827761 + Silent SNP G G C novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 9 139827761 139827761 G C SNP EHMT1 NM_024757 human genbank 54_36p +1 reviewed silent c.3045 p.V1015 1.000 superfamily_SET domain,HMMSmart_SM00468,HMMPfam_Pre-SET superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,superfamily_SET domain,HMMSmart_SM00468,HMMPfam_Pre-SET,HMMPfam_SET,HMMSmart_SM00317 - no_errors PIK3CB 5291 genome.wustl.edu 36 3 139896378 139896378 + Missense_Mutation SNP T T A novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 3 139896378 139896378 T A SNP PIK3CB NM_006219 human genbank 54_36p -1 provisional missense c.1832 p.D611V 1.000 superfamily_ARM-type_fold,HMMSmart_PI3Ka,HMMPfam_PI3Ka HMMPfam_PI3K_p85B,HMMSmart_PI3K_p85B,superfamily_SSF54236,HMMPfam_PI3K_rbd,HMMSmart_PI3K_rbd,HMMSmart_PI3K_C2,superfamily_C2_CaLB,HMMPfam_PI3K_C2,superfamily_ARM-type_fold,HMMSmart_PI3Ka,HMMPfam_PI3Ka,superfamily_Kinase_like,HMMPfam_PI3_PI4_kinase,HMMSmart_PI3Kc,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2 - no_errors PCDHB4 56131 genome.wustl.edu 36 5 140483395 140483395 + Missense_Mutation SNP C C T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 5 140483395 140483395 C T SNP PCDHB4 NM_018938 human genbank 54_36p +1 reviewed missense c.1631 p.A544V 0.969 superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA HMMPfam_Cadherin_2,superfamily_Cadherin,PatternScan_CADHERIN_1,HMMPfam_Cadherin,HMMSmart_CA - no_errors GLI4 2738 genome.wustl.edu 36 8 144428372 144428372 + Nonsense_Mutation SNP G G A novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 8 144428372 144428372 G A SNP GLI4 ENST00000344692 human ensembl 54_36p +1 known nonsense c.17 p.W6* 0.000 NULL HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_start_codon:no_stop_codon ZNF623 9831 genome.wustl.edu 36 8 144803667 144803667 + Missense_Mutation SNP G G T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 8 144803667 144803667 G T SNP ZNF623 NM_014789 human genbank 54_36p +1 validated missense c.482 p.G161V 0.005 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors HMGB3 3149 genome.wustl.edu 36 X 149905302 149905302 + Missense_Mutation SNP A A T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 X 149905302 149905302 A T SNP HMGB3 NM_005342 human genbank 54_36p +1 validated missense c.271 p.N91Y 1.000 superfamily_HMG-box superfamily_HMG-box,HMMPfam_HMG_box,HMMSmart_HMG,PatternScan_HMG_BOX_1 - no_errors MAGEA4 4103 genome.wustl.edu 36 X 150843244 150843244 + Missense_Mutation SNP T T A novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 X 150843244 150843244 T A SNP MAGEA4 NM_001011548 human genbank 54_36p +1 reviewed missense c.452 p.I151N 0.069 HMMPfam_MAGE HMMPfam_MAGE - no_errors ARHGAP4 393 genome.wustl.edu 36 X 152828562 152828562 + Silent SNP C C G novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 X 152828562 152828562 C G SNP ARHGAP4 NM_001666 human genbank 54_36p -1 validated silent c.2241 p.G747 0.020 superfamily_SH3 HMMPfam_FCH,HMMSmart_FCH,superfamily_Rho_GAP,HMMSmart_RhoGAP,HMMPfam_RhoGAP,superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3 - no_errors ADAM15 8751 genome.wustl.edu 36 1 153295526 153295526 + Missense_Mutation SNP C C G novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 1 153295526 153295526 C G SNP ADAM15 NM_207197 human genbank 54_36p +1 reviewed missense c.955 p.Q319E 0.998 "superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin" "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin),HMMSmart_SM00608,HMMPfam_ADAM_CR,HMMPfam_EGF_2,PatternScan_EGF_2" - no_errors FAM114A2 10827 genome.wustl.edu 36 5 153352738 153352738 + Silent SNP T T C novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 5 153352738 153352738 T C SNP FAM114A2 NM_018691 human genbank 54_36p -1 validated silent c.1509 p.L503 0.000 NULL HMMPfam_DUF719 - no_errors FAM62B 57488 genome.wustl.edu 36 7 158219699 158219699 + Missense_Mutation SNP T T A novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 7 158219699 158219699 T A SNP FAM62B NM_020728 human genbank 54_36p -1 validated missense c.2642 p.D881V 1.000 superfamily_C2_CaLB superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2 - no_errors FCGR3B 2215 genome.wustl.edu 36 1 159862600 159862600 + Missense_Mutation SNP T T G novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 1 159862600 159862600 T G SNP FCGR3B NM_000570 human genbank 54_36p -1 validated missense c.536 p.K179T 0.000 superfamily_Immunoglobulin,HMMSmart_SM00409 superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig - no_errors LPA 4018 genome.wustl.edu 36 6 160947632 160947632 + Silent SNP A A C novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 6 160947632 160947632 A C SNP LPA NM_005577 human genbank 54_36p -1 validated silent c.2652 p.P884 0.421 superfamily_Kringle-like,HMMSmart_SM00130,HMMPfam_Kringle,PatternScan_KRINGLE_1 superfamily_Kringle-like,HMMSmart_SM00130,HMMPfam_Kringle,PatternScan_KRINGLE_1,superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER - no_errors SLC9A11 284525 genome.wustl.edu 36 1 171819361 171819361 + Missense_Mutation SNP G G C novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 1 171819361 171819361 G C SNP SLC9A11 NM_178527 human genbank 54_36p -1 validated missense c.547 p.L183V 0.202 HMMPfam_Na_H_Exchanger PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2,HMMPfam_Na_H_Exchanger,HMMPfam_Ion_trans,HMMSmart_cNMP,superfamily_cNMP_binding,HMMPfam_cNMP_binding - no_errors COL5A2 1290 genome.wustl.edu 36 2 189608049 189608049 + Silent SNP G G C novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 2 189608049 189608049 G C SNP COL5A2 NM_000393 human genbank 54_36p -1 reviewed silent c.4191 p.A1397 0.914 HMMSmart_COLFI,HMMPfam_COLFI HMMPfam_VWC,HMMSmart_VWC,PatternScan_VWFC_1,HMMPfam_Collagen,HMMSmart_COLFI,HMMPfam_COLFI - no_errors MUC20 200958 genome.wustl.edu 36 3 196938476 196938476 + Missense_Mutation SNP T C C novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 3 196938476 196938476 T C SNP MUC20 NM_152673 human genbank 54_36p +1 reviewed missense c.818 p.L273P 0.000 NULL NULL - no_errors REN 5972 genome.wustl.edu 36 1 202390792 202390792 + Missense_Mutation SNP C C T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 1 202390792 202390792 C T SNP REN NM_000537 human genbank 54_36p -1 reviewed missense c.1196 p.R399H 1.000 superfamily_Acid proteases,HMMPfam_Asp superfamily_Acid proteases,HMMPfam_A1_Propeptide,HMMPfam_Asp,PatternScan_ASP_PROTEASE - no_errors PARD3B 117583 genome.wustl.edu 36 2 205694655 205694655 + Missense_Mutation SNP T C C novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 2 205694655 205694655 T C SNP PARD3B NM_152526 human genbank 54_36p +1 validated missense c.902 p.I301T 0.999 superfamily_PDZ superfamily_PDZ,HMMSmart_PDZ,HMMPfam_PDZ - no_errors CABC1 56997 genome.wustl.edu 36 1 225236412 225236412 + Silent SNP G G C novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 1 225236412 225236412 G C SNP CABC1 NM_020247 human genbank 54_36p +1 reviewed silent c.792 p.V264 0.985 NULL HMMPfam_ABC1,superfamily_Protein kinase-like (PK-like) - no_errors URB2 9816 genome.wustl.edu 36 1 227839180 227839180 + Missense_Mutation SNP C C T novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 1 227839180 227839180 C T SNP URB2 NM_014777 human genbank 54_36p +1 provisional missense c.2197 p.L733F 0.000 NULL HMMPfam_Urb2 - no_errors SH3BP4 23677 genome.wustl.edu 36 2 235615745 235615745 + Silent SNP G G A novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 2 235615745 235615745 G A SNP SH3BP4 NM_014521 human genbank 54_36p +1 reviewed silent c.1593 p.L531 0.766 NULL superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,HMMPfam_SH3_2 - no_errors MAP1LC3C 440738 genome.wustl.edu 36 1 240228882 240228882 + Missense_Mutation SNP T T A novel unknown TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e2da306d-5b3b-40dc-bcf2-85c2cdf48a4c 0440ebfb-764d-448f-9bba-e7a42e7fac80 1 240228882 240228882 T A SNP MAP1LC3C NM_001004343 human genbank 54_36p -1 validated missense c.52 p.S18C 1.000 superfamily_SSF54236 superfamily_SSF54236,HMMPfam_MAP1_LC3 - no_errors