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 TCHH 7062 genome.wustl.edu 36 1 150346934 150346934 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6f9e5a76-5d2a-4bb0-babf-3f365a177236 676ce788-9f4c-476e-8145-2f8835d2a163 1 150346934 150346934 T C SNP TCHH NM_007113 human genbank 54_36p -1 provisional missense c.5383 p.R1795G 0.03 NULL - - no_errors TNR 7143 genome.wustl.edu 36 1 173560251 173560251 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6f9e5a76-5d2a-4bb0-babf-3f365a177236 676ce788-9f4c-476e-8145-2f8835d2a163 1 173560251 173560251 C A SNP TNR NM_003285 human genbank 54_36p -1 validated missense c.3821 p.R1274L 1 HMMPfam_Fibrinogen_C HMMPfam_Fibrinogen_C;HMMPfam_fn3;superfamily_Fibronectin type III;HMMPfam_EGF_2;superfamily_Fibrinogen C-terminal domain-like;superfamily_EGF/Laminin - no_errors CEP350 9857 genome.wustl.edu 36 1 178290216 178290216 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 6f9e5a76-5d2a-4bb0-babf-3f365a177236 676ce788-9f4c-476e-8145-2f8835d2a163 1 178290216 178290216 C T SNP CEP350 NM_014810 human genbank 54_36p 1 reviewed missense c.5215 p.R1739W 1 NULL - - no_errors THRAP3 9967 genome.wustl.edu 36 1 36527461 36527461 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6f9e5a76-5d2a-4bb0-babf-3f365a177236 676ce788-9f4c-476e-8145-2f8835d2a163 1 36527461 36527461 T G SNP THRAP3 NM_005119 human genbank 54_36p 1 validated missense c.1254 p.F418L 1 NULL - - no_errors MKNK1 8569 genome.wustl.edu 36 1 46824234 46824234 + Splice_Site SNP C G C novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 C C G C C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 6f9e5a76-5d2a-4bb0-babf-3f365a177236 676ce788-9f4c-476e-8145-2f8835d2a163 1 46824234 46824234 C G SNP MKNK1 ENST00000371949 human ensembl 54_36p -1 known splice_site c.1-1 e1-1 1 - - - no_errors USP1 7398 genome.wustl.edu 36 1 62688607 62688607 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6f9e5a76-5d2a-4bb0-babf-3f365a177236 676ce788-9f4c-476e-8145-2f8835d2a163 1 62688607 62688607 C G SNP USP1 NM_001017415 human genbank 54_36p 1 reviewed missense c.1725 p.S575R 1 HMMPfam_UCH HMMPfam_UCH;superfamily_Cysteine proteinases - no_errors CCNYL2 414194 genome.wustl.edu 36 10 42285601 42285601 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6f9e5a76-5d2a-4bb0-babf-3f365a177236 676ce788-9f4c-476e-8145-2f8835d2a163 10 42285601 42285601 A G SNP CCNYL2 XM_374787 human genbank 54_36p -1 model missense c.350 p.V117A 0.83 NULL - - no_errors DIP2C 22982 genome.wustl.edu 36 10 458810 458810 + Silent SNP G G A novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6f9e5a76-5d2a-4bb0-babf-3f365a177236 676ce788-9f4c-476e-8145-2f8835d2a163 10 458810 458810 G A SNP DIP2C NM_014974 human genbank 54_36p -1 reviewed silent c.558 p.S186 1 NULL HMMPfam_AMP-binding;HMMPfam_DMAP_binding;superfamily_Acetyl-CoA synthetase-like - no_errors SNORD113-9 767569 genome.wustl.edu 36 14 100481803 100481803 + RNA SNP A A T novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6f9e5a76-5d2a-4bb0-babf-3f365a177236 676ce788-9f4c-476e-8145-2f8835d2a163 14 100481803 100481803 A T SNP SNORD113-9 NR_003237 human genbank 54_36p 1 provisional rna NULL NULL 0.93 - - - no_errors OR5T2 219464 genome.wustl.edu 36 11 55756971 55756971 + Silent SNP A A G novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6f9e5a76-5d2a-4bb0-babf-3f365a177236 676ce788-9f4c-476e-8145-2f8835d2a163 11 55756971 55756971 A G SNP OR5T2 NM_001004746 human genbank 54_36p -1 provisional silent c.267 p.I89 0.001 NULL - - no_errors TBX5 6910 genome.wustl.edu 36 12 113278030 113278030 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6f9e5a76-5d2a-4bb0-babf-3f365a177236 676ce788-9f4c-476e-8145-2f8835d2a163 12 113278030 113278030 T A SNP TBX5 NM_000192 human genbank 54_36p -1 reviewed missense c.1247 p.Q416L 1 NULL HMMPfam_T-box;superfamily_p53-like transcription factors - no_errors PDE3A 5139 genome.wustl.edu 36 12 20694658 20694658 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6f9e5a76-5d2a-4bb0-babf-3f365a177236 676ce788-9f4c-476e-8145-2f8835d2a163 12 20694658 20694658 G T SNP PDE3A NM_000921 human genbank 54_36p 1 validated missense c.2782 p.V928F 0.07 HMMPfam_PDEase_I HMMPfam_PDEase_I;superfamily_HD-domain/PDEase-like - no_errors KRT72 140807 genome.wustl.edu 36 12 51267752 51267752 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6f9e5a76-5d2a-4bb0-babf-3f365a177236 676ce788-9f4c-476e-8145-2f8835d2a163 12 51267752 51267752 C T SNP KRT72 NM_080747 human genbank 54_36p -1 provisional missense c.1240 p.V414M 0.97 NULL - - no_errors GLI1 2735 genome.wustl.edu 36 12 56150700 56150700 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6f9e5a76-5d2a-4bb0-babf-3f365a177236 676ce788-9f4c-476e-8145-2f8835d2a163 12 56150700 56150700 G A SNP GLI1 NM_005269 human genbank 54_36p 1 reviewed missense c.1910 p.R637Q 1 NULL zf-C2H2;HMMPfam_zf-C2H2;C2H2 and C2HC zinc fingers;superfamily_C2H2 and C2HC zinc fingers - no_errors MRPL42 28977 genome.wustl.edu 36 12 92405485 92405485 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6f9e5a76-5d2a-4bb0-babf-3f365a177236 676ce788-9f4c-476e-8145-2f8835d2a163 12 92405485 92405485 G T SNP MRPL42 NM_014050 human genbank 54_36p 1 reviewed nonsense c.301 p.E101* NULL - - no_errors ARHGEF7 8874 genome.wustl.edu 36 13 110736520 110736520 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6f9e5a76-5d2a-4bb0-babf-3f365a177236 676ce788-9f4c-476e-8145-2f8835d2a163 13 110736520 110736520 T G SNP ARHGEF7 NM_145735 human genbank 54_36p 1 reviewed missense c.1976 p.M659R 1 NULL HMMPfam_RhoGEF;HMMPfam_SH3_1;superfamily_SH3-domain;HMMPfam_CH;HMMPfam_PH;superfamily_Calponin-homology domain CH-domain;superfamily_DBL homology domain (DH-domain);superfamily_PH domain-like - no_errors FREM2 341640 genome.wustl.edu 36 13 38328279 38328279 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6f9e5a76-5d2a-4bb0-babf-3f365a177236 676ce788-9f4c-476e-8145-2f8835d2a163 13 38328279 38328279 A T SNP FREM2 NM_207361 human genbank 54_36p 1 reviewed missense c.6942 p.E2314D 0.98 HMMPfam_Calx-beta HMMPfam_Calx-beta;superfamily_Cadherin-like - no_errors ASGR2 433 genome.wustl.edu 36 17 6946148 6946148 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6f9e5a76-5d2a-4bb0-babf-3f365a177236 676ce788-9f4c-476e-8145-2f8835d2a163 17 6946148 6946148 T C SNP ASGR2 NM_001181 human genbank 54_36p -1 reviewed missense c.755 p.Y252C 0.03 HMMPfam_Lectin_C HMMPfam_Lectin_C;HMMPfam_Lectin_N;superfamily_C-type lectin-like - no_errors GPR142 350383 genome.wustl.edu 36 17 69880170 69880170 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6f9e5a76-5d2a-4bb0-babf-3f365a177236 676ce788-9f4c-476e-8145-2f8835d2a163 17 69880170 69880170 G A SNP GPR142 NM_181790 human genbank 54_36p 1 provisional missense c.1225 p.A409T 0.812 NULL - - no_errors NFATC1 4772 genome.wustl.edu 36 18 75294569 75294569 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6f9e5a76-5d2a-4bb0-babf-3f365a177236 676ce788-9f4c-476e-8145-2f8835d2a163 18 75294569 75294569 C T SNP NFATC1 NM_172387 human genbank 54_36p 1 reviewed missense c.1190 p.P397L 1 NULL HMMPfam_TIG;superfamily_p53-like transcription factors;HMMPfam_RHD;superfamily_E set domains - no_errors ARHGEF1 9138 genome.wustl.edu 36 19 47090170 47090170 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6f9e5a76-5d2a-4bb0-babf-3f365a177236 676ce788-9f4c-476e-8145-2f8835d2a163 19 47090170 47090170 G A SNP ARHGEF1 NM_199002 human genbank 54_36p 1 reviewed missense c.740 p.R247Q 0.99 NULL - - no_errors EHD2 30846 genome.wustl.edu 36 19 52935970 52935970 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6f9e5a76-5d2a-4bb0-babf-3f365a177236 676ce788-9f4c-476e-8145-2f8835d2a163 19 52935970 52935970 C G SNP EHD2 NM_014601 human genbank 54_36p 1 reviewed missense c.1101 p.D367E 1 NULL HMMPfam_Dynamin_N;superfamily_EF-hand;superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors CNTNAP5 129684 genome.wustl.edu 36 2 124716338 124716338 + Silent SNP G G A novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 6f9e5a76-5d2a-4bb0-babf-3f365a177236 676ce788-9f4c-476e-8145-2f8835d2a163 2 124716338 124716338 G A SNP CNTNAP5 NM_130773 human genbank 54_36p 1 reviewed silent c.279 p.T93 0.89 HMMPfam_F5_F8_type_C HMMPfam_F5_F8_type_C;HMMPfam_EGF;superfamily_Galactose-binding domain-like;superfamily_Concanavalin A-like lectins/glucanases;HMMPfam_Laminin_G_2;superfamily_Fibrinogen C-terminal domain-like - no_errors LOC729141 729141 genome.wustl.edu 36 2 188801234 188801234 + RNA SNP C C T novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6f9e5a76-5d2a-4bb0-babf-3f365a177236 676ce788-9f4c-476e-8145-2f8835d2a163 2 188801234 188801234 C T SNP LOC729141 XR_015463 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene KLRAQ1 129285 genome.wustl.edu 36 2 48540782 48540782 + Silent SNP T T G novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6f9e5a76-5d2a-4bb0-babf-3f365a177236 676ce788-9f4c-476e-8145-2f8835d2a163 2 48540782 48540782 T G SNP KLRAQ1 NM_152994 human genbank 54_36p 1 validated silent c.585 p.L195 0.99 NULL - - no_errors C20orf185 359710 genome.wustl.edu 36 20 31123572 31123572 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6f9e5a76-5d2a-4bb0-babf-3f365a177236 676ce788-9f4c-476e-8145-2f8835d2a163 20 31123572 31123572 G A SNP C20orf185 NM_182658 human genbank 54_36p 1 provisional missense c.1262 p.G421E 0.46 NULL - - no_errors DSCR4 10281 genome.wustl.edu 36 21 38348854 38348854 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6f9e5a76-5d2a-4bb0-babf-3f365a177236 676ce788-9f4c-476e-8145-2f8835d2a163 21 38348854 38348854 T C SNP DSCR4 NM_005867 human genbank 54_36p -1 reviewed missense c.322 p.R108G NULL - - no_errors CABIN1 23523 genome.wustl.edu 36 22 22860285 22860285 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6f9e5a76-5d2a-4bb0-babf-3f365a177236 676ce788-9f4c-476e-8145-2f8835d2a163 22 22860285 22860285 G A SNP CABIN1 NM_012295 human genbank 54_36p 1 reviewed missense c.4649 p.R1550H 1 NULL HMMPfam_TPR_1;HMMPfam_MEF2_binding;superfamily_TPR-like - no_errors CBLB 868 genome.wustl.edu 36 3 106921653 106921653 + Silent SNP C C T novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6f9e5a76-5d2a-4bb0-babf-3f365a177236 676ce788-9f4c-476e-8145-2f8835d2a163 3 106921653 106921653 C T SNP CBLB NM_170662 human genbank 54_36p -1 validated silent c.1335 p.P445 0.75 NULL UBA;HMMPfam_UBA;zf-C3HC4;HMMPfam_zf-C3HC4;Cbl_N;HMMPfam_Cbl_N;Cbl_N2;HMMPfam_Cbl_N2;Cbl_N3;HMMPfam_Cbl_N3 - no_errors UROC1 131669 genome.wustl.edu 36 3 127703408 127703408 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 6f9e5a76-5d2a-4bb0-babf-3f365a177236 676ce788-9f4c-476e-8145-2f8835d2a163 3 127703408 127703408 A G SNP UROC1 ENST00000383579 human ensembl 54_36p -1 known missense c.1009 p.S337P 0.01 HMMPfam_Urocanase HMMPfam_Urocanase;superfamily_Urocanase - no_start_codon SI 6476 genome.wustl.edu 36 3 166220206 166220206 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6f9e5a76-5d2a-4bb0-babf-3f365a177236 676ce788-9f4c-476e-8145-2f8835d2a163 3 166220206 166220206 G T SNP SI NM_001041 human genbank 54_36p -1 validated missense c.3301 p.Q1101K 1 NULL HMMPfam_Glyco_hydro_31;HMMPfam_Trefoil;superfamily_Trefoil;superfamily_(Trans)glycosidases - no_errors AMT 275 genome.wustl.edu 36 3 49431466 49431466 + Silent SNP A A G novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 6f9e5a76-5d2a-4bb0-babf-3f365a177236 676ce788-9f4c-476e-8145-2f8835d2a163 3 49431466 49431466 A G SNP AMT NM_000481 human genbank 54_36p -1 validated silent c.819 p.Y273 1 HMMPfam_GCV_T HMMPfam_GCV_T;HMMPfam_GCV_T_C;superfamily_Aminomethyltransferase beta-barrel domain;superfamily_Aminomethyltransferase folate-binding domain - no_errors FRMD4B 23150 genome.wustl.edu 36 3 69313206 69313206 + Silent SNP C C T novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6f9e5a76-5d2a-4bb0-babf-3f365a177236 676ce788-9f4c-476e-8145-2f8835d2a163 3 69313206 69313206 C T SNP FRMD4B NM_015123 human genbank 54_36p -1 validated silent c.2385 p.K795 0.04 NULL - - no_errors ENSG00000215208 0 genome.wustl.edu 36 9 30790374 30790374 + Splice_Site SNP T T C novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6f9e5a76-5d2a-4bb0-babf-3f365a177236 676ce788-9f4c-476e-8145-2f8835d2a163 9 30790374 30790374 T C SNP ENSG00000215208 ENST00000399791 human ensembl 54_36p -1 novel splice_site c.NULL NULL 0.99 - - - no_coding_region:pseudogene TRIML1 339976 genome.wustl.edu 36 4 189305446 189305446 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6f9e5a76-5d2a-4bb0-babf-3f365a177236 676ce788-9f4c-476e-8145-2f8835d2a163 4 189305446 189305446 T A SNP TRIML1 NM_178556 human genbank 54_36p 1 provisional missense c.1333 p.F445I 0.99 NULL - - no_errors LOC339970 339970 genome.wustl.edu 36 4 68587375 68587375 + RNA SNP G G A novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6f9e5a76-5d2a-4bb0-babf-3f365a177236 676ce788-9f4c-476e-8145-2f8835d2a163 4 68587375 68587375 G A SNP LOC339970 XR_038239 human genbank 54_36p 1 model rna NULL NULL - - - pseudogene LOC391777 391777 genome.wustl.edu 36 5 37121120 37121120 + RNA SNP T T C novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6f9e5a76-5d2a-4bb0-babf-3f365a177236 676ce788-9f4c-476e-8145-2f8835d2a163 5 37121120 37121120 T C SNP LOC391777 XR_016978 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene GPR98 84059 genome.wustl.edu 36 5 89974258 89974258 + Silent SNP C C T novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6f9e5a76-5d2a-4bb0-babf-3f365a177236 676ce788-9f4c-476e-8145-2f8835d2a163 5 89974258 89974258 C T SNP GPR98 NM_032119 human genbank 54_36p 1 reviewed silent c.2290 p.L764 0.95 NULL HMMPfam_GPS;HMMPfam_Calx-beta;HMMPfam_EPTP;superfamily_Concanavalin A-like lectins/glucanases;superfamily_Phosphoglucomutase first 3 domains - no_errors L3MBTL3 84456 genome.wustl.edu 36 6 130455630 130455630 + Silent SNP A A G novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6f9e5a76-5d2a-4bb0-babf-3f365a177236 676ce788-9f4c-476e-8145-2f8835d2a163 6 130455630 130455630 A G SNP L3MBTL3 NM_032438 human genbank 54_36p 1 validated silent c.1566 p.A522 1 NULL - - no_errors MAP3K4 4216 genome.wustl.edu 36 6 161433095 161433095 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6f9e5a76-5d2a-4bb0-babf-3f365a177236 676ce788-9f4c-476e-8145-2f8835d2a163 6 161433095 161433095 A G SNP MAP3K4 NM_005922 human genbank 54_36p 1 reviewed missense c.3199 p.I1067V 1 NULL Pkinase;HMMPfam_Pkinase - no_errors HIST1H2BC 8347 genome.wustl.edu 36 6 26232094 26232094 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6f9e5a76-5d2a-4bb0-babf-3f365a177236 676ce788-9f4c-476e-8145-2f8835d2a163 6 26232094 26232094 C A SNP HIST1H2BC NM_003526 human genbank 54_36p -1 reviewed missense c.18 p.K6N 0.99 NULL - - no_errors PRSS16 10279 genome.wustl.edu 36 6 27324878 27324878 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6f9e5a76-5d2a-4bb0-babf-3f365a177236 676ce788-9f4c-476e-8145-2f8835d2a163 6 27324878 27324878 C T SNP PRSS16 NM_005865 human genbank 54_36p 1 reviewed missense c.358 p.P120S 0.8 NULL - - no_errors ATP6V1F 9296 genome.wustl.edu 36 7 128292746 128292746 + Missense_Mutation SNP G G A Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6f9e5a76-5d2a-4bb0-babf-3f365a177236 676ce788-9f4c-476e-8145-2f8835d2a163 7 128292746 128292746 G A SNP ATP6V1F NM_004231 human genbank 54_36p 1 reviewed missense c.238 p.A80T 1 HMMPfam_ATP-synt_F HMMPfam_ATP-synt_F - no_errors OR2F2 135948 genome.wustl.edu 36 7 143263482 143263482 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6f9e5a76-5d2a-4bb0-babf-3f365a177236 676ce788-9f4c-476e-8145-2f8835d2a163 7 143263482 143263482 C G SNP OR2F2 NM_001004685 human genbank 54_36p 1 provisional missense c.224 p.T75R 0.78 NULL - - no_errors NEUROD6 63974 genome.wustl.edu 36 7 31344459 31344459 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6f9e5a76-5d2a-4bb0-babf-3f365a177236 676ce788-9f4c-476e-8145-2f8835d2a163 7 31344459 31344459 C T SNP NEUROD6 NM_022728 human genbank 54_36p -1 provisional missense c.949 p.D317N 1 NULL HMMPfam_HLH;superfamily_HLH helix-loop-helix DNA-binding domain - no_errors GAL3ST4 79690 genome.wustl.edu 36 7 99595714 99595714 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6f9e5a76-5d2a-4bb0-babf-3f365a177236 676ce788-9f4c-476e-8145-2f8835d2a163 7 99595714 99595714 C A SNP GAL3ST4 NM_024637 human genbank 54_36p -1 reviewed nonsense c.1234 p.E412* 0.12 HMMPfam_Gal-3-0_sulfotr HMMPfam_Gal-3-0_sulfotr - no_errors LOC642546 642546 genome.wustl.edu 36 X 79715889 79715889 + RNA SNP G G A novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6f9e5a76-5d2a-4bb0-babf-3f365a177236 676ce788-9f4c-476e-8145-2f8835d2a163 X 79715889 79715889 G A SNP LOC642546 XR_038841 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene GRHL2 79977 genome.wustl.edu 36 8 102640019 102640020 + Frame_Shift_Ins INS - - T novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 - - - T - - Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 6f9e5a76-5d2a-4bb0-babf-3f365a177236 676ce788-9f4c-476e-8145-2f8835d2a163 8 102640019 102640020 - T INS GRHL2 NM_024915 human genbank 54_36p 1 validated frame_shift_ins c.481_482 p.E161fs 0.998:1.000 NULL - - no_errors GBA2 57704 genome.wustl.edu 36 9 35730010 35730010 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6f9e5a76-5d2a-4bb0-babf-3f365a177236 676ce788-9f4c-476e-8145-2f8835d2a163 9 35730010 35730010 G A SNP GBA2 NM_020944 human genbank 54_36p -1 reviewed missense c.1394 p.P465L 0.99 NULL HMMPfam_DUF608;superfamily_Six-hairpin glycosidases - no_errors TDRD7 23424 genome.wustl.edu 36 9 99277564 99277564 + Nonsense_Mutation SNP C C T novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6f9e5a76-5d2a-4bb0-babf-3f365a177236 676ce788-9f4c-476e-8145-2f8835d2a163 9 99277564 99277564 C T SNP TDRD7 NM_014290 human genbank 54_36p 1 validated nonsense c.2158 p.R720* 0.88 HMMPfam_TUDOR HMMPfam_TUDOR;superfamily_Tudor/PWWP/MBT - no_errors