Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID transcript_name strand transcript_status amino_acid_change ucsc_cons normal_depth normal_vaf tumor_depth tumor_vaf rna_depth rna_vaf polyphen sift condel domain CCDC30 728621 genome.wustl.edu 37 1 43076715 43076715 + Missense_Mutation SNP C C T novel TCGA-AX-A06L-01A-11D-A122-09 TCGA-AX-A06L-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44470392-800a-472e-befe-b2ea579cb78c b7f68d14-4673-4879-8456-acf101b7bf4a NM_001080850.2 +1 validated p.R484C 0.000 304 0% 393 33.8% - - benign(0.002) tolerated(0.15) neutral(0.241) NULL TM2D1 83941 genome.wustl.edu 37 1 62190783 62190783 + Missense_Mutation SNP C C A novel TCGA-AX-A06L-01A-11D-A122-09 TCGA-AX-A06L-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44470392-800a-472e-befe-b2ea579cb78c b7f68d14-4673-4879-8456-acf101b7bf4a NM_032027.2 -1 reviewed p.A4S 0.000 18 0% 17 47.1% - - benign(0.004) deleterious(0) neutral(0.445) NULL BCAN 63827 genome.wustl.edu 37 1 156628347 156628347 + Missense_Mutation SNP C C T novel TCGA-AX-A06L-01A-11D-A122-09 TCGA-AX-A06L-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44470392-800a-472e-befe-b2ea579cb78c b7f68d14-4673-4879-8456-acf101b7bf4a NM_021948.3 +1 validated p.P817L 0.870 31 0% 64 29.7% - - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain DISP1 84976 genome.wustl.edu 37 1 223178728 223178728 + Missense_Mutation SNP C C T novel TCGA-AX-A06L-01A-11D-A122-09 TCGA-AX-A06L-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44470392-800a-472e-befe-b2ea579cb78c b7f68d14-4673-4879-8456-acf101b7bf4a NM_032890.2 +1 reviewed p.T1330M 0.924 31 0% 36 38.9% - - benign(0.014) deleterious(0.04) neutral(0.349) NULL C2orf44 80304 genome.wustl.edu 37 2 24261607 24261607 + Missense_Mutation SNP A A C novel TCGA-AX-A06L-01A-11D-A122-09 TCGA-AX-A06L-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44470392-800a-472e-befe-b2ea579cb78c b7f68d14-4673-4879-8456-acf101b7bf4a NM_025203.2 -1 validated p.V253G 0.001 118 0% 140 37.9% - - probably_damaging(0.959) deleterious(0.01) deleterious(0.808) NULL GTDC1 79712 genome.wustl.edu 37 2 144709580 144709580 + Missense_Mutation SNP C C A novel TCGA-AX-A06L-01A-11D-A122-09 TCGA-AX-A06L-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44470392-800a-472e-befe-b2ea579cb78c b7f68d14-4673-4879-8456-acf101b7bf4a NM_001006636.3 -1 validated p.R421I 1.000 351 0% 177 39% - - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_Glycos_transf_1,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase SF3B1 23451 genome.wustl.edu 37 2 198281473 198281473 + Missense_Mutation SNP G G T novel TCGA-AX-A06L-01A-11D-A122-09 TCGA-AX-A06L-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44470392-800a-472e-befe-b2ea579cb78c b7f68d14-4673-4879-8456-acf101b7bf4a NM_012433.2 -1 reviewed p.Q220K 1.000 208 0.5% 122 38.5% - - benign(0.001) tolerated(0.98) - NULL DGKQ 1609 genome.wustl.edu 37 4 959940 959940 + Silent SNP C C T novel TCGA-AX-A06L-01A-11D-A122-09 TCGA-AX-A06L-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44470392-800a-472e-befe-b2ea579cb78c b7f68d14-4673-4879-8456-acf101b7bf4a ENST00000502309 -1 known p.A135 0.000 13 0% 28 39.3% - - - - - NULL EXOC3 11336 genome.wustl.edu 37 5 447672 447672 + Missense_Mutation SNP G G A novel TCGA-AX-A06L-01A-11D-A122-09 TCGA-AX-A06L-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44470392-800a-472e-befe-b2ea579cb78c b7f68d14-4673-4879-8456-acf101b7bf4a NM_007277.4 +1 reviewed p.G57R 1.000 28 0% 70 34.3% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL PIK3R1 5295 genome.wustl.edu 37 5 67591143 67591146 + Frame_Shift_Del DEL AATA AATA - novel TCGA-AX-A06L-01A-11D-A122-09 TCGA-AX-A06L-10A-01D-A122-09 AATA AATA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44470392-800a-472e-befe-b2ea579cb78c b7f68d14-4673-4879-8456-acf101b7bf4a NM_181523.1 +1 reviewed p.Q579fs 1.000:0.989:1.000:1.000 - - - - - - - - - NULL PIK3R1 5295 genome.wustl.edu 37 5 67591148 67591149 + Frame_Shift_Del DEL TT TT - novel TCGA-AX-A06L-01A-11D-A122-09 TCGA-AX-A06L-10A-01D-A122-09 TT TT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44470392-800a-472e-befe-b2ea579cb78c b7f68d14-4673-4879-8456-acf101b7bf4a NM_181523.1 +1 reviewed p.L581fs 1.000:1.000 - - - - - - - - - NULL RHOBTB3 22836 genome.wustl.edu 37 5 95091417 95091417 + Missense_Mutation SNP G G A novel TCGA-AX-A06L-01A-11D-A122-09 TCGA-AX-A06L-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44470392-800a-472e-befe-b2ea579cb78c b7f68d14-4673-4879-8456-acf101b7bf4a NM_014899.3 +1 validated p.A334T 0.707 387 0% 257 31.1% - - benign(0.01) tolerated(0.9) neutral(0.001) HMMSmart_BTB PCDHB6 56130 genome.wustl.edu 37 5 140531371 140531371 + Silent SNP G G T novel TCGA-AX-A06L-01A-11D-A122-09 TCGA-AX-A06L-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44470392-800a-472e-befe-b2ea579cb78c b7f68d14-4673-4879-8456-acf101b7bf4a NM_018939.2 +1 reviewed p.L511 0.114 109 0% 232 39.2% - - - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB16 57717 genome.wustl.edu 37 5 140563276 140563276 + Missense_Mutation SNP C C T novel TCGA-AX-A06L-01A-11D-A122-09 TCGA-AX-A06L-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44470392-800a-472e-befe-b2ea579cb78c b7f68d14-4673-4879-8456-acf101b7bf4a NM_020957.1 +1 reviewed p.T381M 0.002 126 0% 306 38.9% - - benign(0.001) tolerated(0.75) neutral(0.002) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB15 56121 genome.wustl.edu 37 5 140625590 140625590 + Silent SNP T T C novel TCGA-AX-A06L-01A-11D-A122-09 TCGA-AX-A06L-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44470392-800a-472e-befe-b2ea579cb78c b7f68d14-4673-4879-8456-acf101b7bf4a NM_018935.2 +1 reviewed p.L148 0.011 55 0% 144 35.4% - - - - - HMMPfam_Cadherin,superfamily_Cadherin IRGM 345611 genome.wustl.edu 37 5 150227777 150227777 + Missense_Mutation SNP G G A novel TCGA-AX-A06L-01A-11D-A122-09 TCGA-AX-A06L-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44470392-800a-472e-befe-b2ea579cb78c b7f68d14-4673-4879-8456-acf101b7bf4a NM_001145805.1 +1 validated p.R31K 0.000 113 0% 192 38.5% - - benign(0) tolerated(0.92) - HMMPfam_IIGP,superfamily_P-loop containing nucleoside triphosphate hydrolases SNTG1 54212 genome.wustl.edu 37 8 51362262 51362262 + Nonsense_Mutation SNP C C G novel TCGA-AX-A06L-01A-11D-A122-09 TCGA-AX-A06L-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44470392-800a-472e-befe-b2ea579cb78c b7f68d14-4673-4879-8456-acf101b7bf4a NM_018967.2 +1 reviewed p.S85* 1.000 291 0% 158 39.2% - - - - - HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like GPT 2875 genome.wustl.edu 37 8 145730784 145730784 + Silent SNP C C T novel TCGA-AX-A06L-01A-11D-A122-09 TCGA-AX-A06L-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44470392-800a-472e-befe-b2ea579cb78c b7f68d14-4673-4879-8456-acf101b7bf4a NM_005309.2 +1 reviewed p.D217 0.584 13 0% 26 46.2% - - - - - HMMPfam_Aminotran_1_2,superfamily_PyrdxlP-dep_Trfase_major SH2D3C 10044 genome.wustl.edu 37 9 130513581 130513581 + Splice_Site SNP T T G novel TCGA-AX-A06L-01A-11D-A122-09 TCGA-AX-A06L-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44470392-800a-472e-befe-b2ea579cb78c b7f68d14-4673-4879-8456-acf101b7bf4a NM_170600.2 -1 validated e4-2 1.000 100 0% 215 39.1% - - - - - - PTEN 5728 genome.wustl.edu 37 10 89690801 89690801 + Splice_Site SNP A A G novel TCGA-AX-A06L-01A-11D-A122-09 TCGA-AX-A06L-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44470392-800a-472e-befe-b2ea579cb78c b7f68d14-4673-4879-8456-acf101b7bf4a ENST00000371953 +1 known e4-2 1.000 218 0% 75 34.7% - - - - - - PTEN 5728 genome.wustl.edu 37 10 89711896 89711896 + Frame_Shift_Del DEL A A - novel TCGA-AX-A06L-01A-11D-A122-09 TCGA-AX-A06L-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44470392-800a-472e-befe-b2ea579cb78c b7f68d14-4673-4879-8456-acf101b7bf4a ENST00000371953 +1 known p.R172fs 1.000 - - - - - - - - - HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II GBF1 8729 genome.wustl.edu 37 10 104142011 104142011 + Missense_Mutation SNP C C T novel TCGA-AX-A06L-01A-11D-A122-09 TCGA-AX-A06L-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44470392-800a-472e-befe-b2ea579cb78c b7f68d14-4673-4879-8456-acf101b7bf4a NM_004193.1 +1 provisional p.A1833V 1.000 96 1% 168 33.9% - - possibly_damaging(0.643) tolerated(0.32) neutral(0.249) NULL NFKB2 4791 genome.wustl.edu 37 10 104160207 104160207 + Missense_Mutation SNP C C T novel TCGA-AX-A06L-01A-11D-A122-09 TCGA-AX-A06L-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44470392-800a-472e-befe-b2ea579cb78c b7f68d14-4673-4879-8456-acf101b7bf4a NM_001077494.1 +1 validated p.A586V 0.000 31 0% 95 42.1% - - benign(0) tolerated(0.16) neutral(0.059) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat OR5M11 219487 genome.wustl.edu 37 11 56310149 56310149 + Missense_Mutation SNP C C A rs144332728 by1000genomes TCGA-AX-A06L-01A-11D-A122-09 TCGA-AX-A06L-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44470392-800a-472e-befe-b2ea579cb78c b7f68d14-4673-4879-8456-acf101b7bf4a NM_001005245.1 -1 provisional p.E195D 0.247 97 0% 64 18.8% - - possibly_damaging(0.498) deleterious(0.01) deleterious(0.572) HMMPfam_7tm_1,superfamily_SSF81321 ZBTB16 7704 genome.wustl.edu 37 11 114118017 114118017 + Silent SNP C C T novel TCGA-AX-A06L-01A-11D-A122-09 TCGA-AX-A06L-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44470392-800a-472e-befe-b2ea579cb78c b7f68d14-4673-4879-8456-acf101b7bf4a NM_001018011.1 +1 reviewed p.Y574 0.974 86 0% 161 39.8% - - - - - HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CHD4 1108 genome.wustl.edu 37 12 6702279 6702279 + Missense_Mutation SNP C C T novel TCGA-AX-A06L-01A-11D-A122-09 TCGA-AX-A06L-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44470392-800a-472e-befe-b2ea579cb78c b7f68d14-4673-4879-8456-acf101b7bf4a NM_001273.2 -1 reviewed p.R877Q 1.000 116 0% 144 41% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_SNF2_N,PatternScan_DEAH_ATP_HELICASE,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases MLL2 8085 genome.wustl.edu 37 12 49435229 49435229 + Silent SNP C C T novel TCGA-AX-A06L-01A-11D-A122-09 TCGA-AX-A06L-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44470392-800a-472e-befe-b2ea579cb78c b7f68d14-4673-4879-8456-acf101b7bf4a NM_003482.3 -1 validated p.P2108 0.972 33 0% 45 44.4% - - - - - NULL SCN8A 6334 genome.wustl.edu 37 12 52183141 52183142 + Frame_Shift_Ins INS - - CTTCACC novel TCGA-AX-A06L-01A-11D-A122-09 TCGA-AX-A06L-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44470392-800a-472e-befe-b2ea579cb78c b7f68d14-4673-4879-8456-acf101b7bf4a NM_014191.2 +1 reviewed p.L1457fs 1.000:1.000 - - - - - - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels TGDS 23483 genome.wustl.edu 37 13 95229656 95229656 + Missense_Mutation SNP T T C novel TCGA-AX-A06L-01A-11D-A122-09 TCGA-AX-A06L-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44470392-800a-472e-befe-b2ea579cb78c b7f68d14-4673-4879-8456-acf101b7bf4a NM_014305.2 -1 validated p.M285V 1.000 209 0% 86 48.8% - - benign(0) tolerated(0.51) neutral(0.009) superfamily_NAD(P)-binding Rossmann-fold domains TRIM9 114088 genome.wustl.edu 37 14 51448776 51448776 + Missense_Mutation SNP A A T novel TCGA-AX-A06L-01A-11D-A122-09 TCGA-AX-A06L-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44470392-800a-472e-befe-b2ea579cb78c b7f68d14-4673-4879-8456-acf101b7bf4a NM_015163.5 -1 reviewed p.I550N 1.000 156 0% 116 33.6% - - possibly_damaging(0.782) tolerated(0.21) neutral(0.337) superfamily_Concanavalin A-like lectins/glucanases UBR1 197131 genome.wustl.edu 37 15 43329975 43329975 + Missense_Mutation SNP C C A novel TCGA-AX-A06L-01A-11D-A122-09 TCGA-AX-A06L-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44470392-800a-472e-befe-b2ea579cb78c b7f68d14-4673-4879-8456-acf101b7bf4a NM_174916.2 -1 reviewed p.S673I 1.000 149 0% 105 41.9% - - benign(0.091) deleterious(0) neutral(0.451) NULL STOML1 9399 genome.wustl.edu 37 15 74277004 74277004 + Silent SNP A A G novel TCGA-AX-A06L-01A-11D-A122-09 TCGA-AX-A06L-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44470392-800a-472e-befe-b2ea579cb78c b7f68d14-4673-4879-8456-acf101b7bf4a NM_004809.3 -1 provisional p.T333 0.143 42 0% 109 42.2% - - - - - HMMPfam_SCP2,superfamily_Sterol carrier protein SCP CHRNB4 1143 genome.wustl.edu 37 15 78921917 78921917 + Missense_Mutation SNP C C T novel TCGA-AX-A06L-01A-11D-A122-09 TCGA-AX-A06L-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44470392-800a-472e-befe-b2ea579cb78c b7f68d14-4673-4879-8456-acf101b7bf4a NM_000750.3 -1 validated p.V244M 0.988 535 0% 838 37.8% - - possibly_damaging(0.833) tolerated(0.21) neutral(0.361) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM CDH1 999 genome.wustl.edu 37 16 68862107 68862107 + Missense_Mutation SNP G G A novel TCGA-AX-A06L-01A-11D-A122-09 TCGA-AX-A06L-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44470392-800a-472e-befe-b2ea579cb78c b7f68d14-4673-4879-8456-acf101b7bf4a NM_004360.3 +1 reviewed p.R732Q 1.000 403 0.5% 350 38% - - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_Cadherin_C KLHL11 55175 genome.wustl.edu 37 17 40011489 40011489 + Silent SNP G G A novel TCGA-AX-A06L-01A-11D-A122-09 TCGA-AX-A06L-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44470392-800a-472e-befe-b2ea579cb78c b7f68d14-4673-4879-8456-acf101b7bf4a NM_018143.1 -1 provisional p.S210 1.000 77 0% 110 39.1% - - - - - HMMPfam_BACK GPATCH8 23131 genome.wustl.edu 37 17 42477332 42477332 + Missense_Mutation SNP C C A novel TCGA-AX-A06L-01A-11D-A122-09 TCGA-AX-A06L-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44470392-800a-472e-befe-b2ea579cb78c b7f68d14-4673-4879-8456-acf101b7bf4a NM_001002909.1 -1 validated p.G705W 0.998 490 0% 586 39.8% - - unknown(0) deleterious(0.01) - NULL PHOSPHO1 162466 genome.wustl.edu 37 17 47302390 47302392 + In_Frame_Del DEL AGG AGG - rs146708566 by1000genomes TCGA-AX-A06L-01A-11D-A122-09 TCGA-AX-A06L-10A-01D-A122-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44470392-800a-472e-befe-b2ea579cb78c b7f68d14-4673-4879-8456-acf101b7bf4a NM_001143804.1 -1 validated p.S32in_frame_del 0.092:0.143:0.249 - - - - - - - - - NULL LOC729602 729602 genome.wustl.edu 37 18 11621276 11621276 + Nonsense_Mutation SNP G G T novel TCGA-AX-A06L-01A-11D-A122-09 TCGA-AX-A06L-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44470392-800a-472e-befe-b2ea579cb78c b7f68d14-4673-4879-8456-acf101b7bf4a XM_002344140.1 -1 model p.C154* 0.227 467 0% 571 34.9% - - - - - HMMPfam_NPIP TGIF2 60436 genome.wustl.edu 37 20 35219567 35219567 + Silent SNP G G A novel TCGA-AX-A06L-01A-11D-A122-09 TCGA-AX-A06L-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44470392-800a-472e-befe-b2ea579cb78c b7f68d14-4673-4879-8456-acf101b7bf4a NM_021809.5 +1 reviewed p.G149 0.997 79 0% 62 43.5% - - - - - NULL KCNQ2 3785 genome.wustl.edu 37 20 62038258 62038258 + Silent SNP C C T novel TCGA-AX-A06L-01A-11D-A122-09 TCGA-AX-A06L-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44470392-800a-472e-befe-b2ea579cb78c b7f68d14-4673-4879-8456-acf101b7bf4a NM_172107.2 -1 reviewed p.T786 0.865 22 0% 41 41.5% - - - - - NULL CELSR1 9620 genome.wustl.edu 37 22 46932115 46932115 + Missense_Mutation SNP G G A novel TCGA-AX-A06L-01A-11D-A122-09 TCGA-AX-A06L-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44470392-800a-472e-befe-b2ea579cb78c b7f68d14-4673-4879-8456-acf101b7bf4a NM_014246.1 -1 reviewed p.T318M 1.000 69 0% 147 40.1% - - probably_damaging(0.997) tolerated(0.09) deleterious(0.762) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like EIF2S3 1968 genome.wustl.edu 37 X 24073092 24073092 + Missense_Mutation SNP G G A novel TCGA-AX-A06L-01A-11D-A122-09 TCGA-AX-A06L-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44470392-800a-472e-befe-b2ea579cb78c b7f68d14-4673-4879-8456-acf101b7bf4a NM_001415.3 +1 reviewed p.G3S 1.000 131 0% 278 46.4% - - benign(0) tolerated(0.19) neutral(0.050) NULL MIR513B 100313822 genome.wustl.edu 37 X 146280564 146280564 + RNA SNP C C A novel TCGA-AX-A06L-01A-11D-A122-09 TCGA-AX-A06L-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 44470392-800a-472e-befe-b2ea579cb78c b7f68d14-4673-4879-8456-acf101b7bf4a ENST00000385136 -1 known NULL 0.075 331 0% 210 23.3% - - - - - -