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 EIF4G3 8672 genome.wustl.edu 37 1 21307677 21307677 + Missense_Mutation SNP G G A novel TCGA-BS-A0TG-01A-32D-A10B-09 TCGA-BS-A0TG-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19def402-fb8d-4b27-90dd-ce9135a3c0a2 5db476db-5f81-4086-b212-b481497d82a2 NM_003760.3 -1 validated p.P25L 1.000 107 0% 38 44.7% - - possibly_damaging(0.927) deleterious(0.01) deleterious(0.780) NULL ARID1A 8289 genome.wustl.edu 37 1 27056246 27056253 + Frame_Shift_Del DEL ACATGGGT ACATGGGT - novel TCGA-BS-A0TG-01A-32D-A10B-09 TCGA-BS-A0TG-10A-01D-A14K-09 ACATGGGT ACATGGGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19def402-fb8d-4b27-90dd-ce9135a3c0a2 5db476db-5f81-4086-b212-b481497d82a2 NM_006015.4 +1 reviewed p.H415fs 1.000:1.000:1.000:0.995:1.000:1.000:1.000:1.000 - - - - - - - - - NULL ARID1A 8289 genome.wustl.edu 37 1 27107093 27107093 + Frame_Shift_Del DEL C C - novel TCGA-BS-A0TG-01A-32D-A10B-09 TCGA-BS-A0TG-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19def402-fb8d-4b27-90dd-ce9135a3c0a2 5db476db-5f81-4086-b212-b481497d82a2 NM_006015.4 +1 reviewed p.R2236fs 1.000 - - - - - - - - - NULL GJB3 2707 genome.wustl.edu 37 1 35250842 35250842 + Missense_Mutation SNP G G A novel TCGA-BS-A0TG-01A-32D-A10B-09 TCGA-BS-A0TG-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19def402-fb8d-4b27-90dd-ce9135a3c0a2 5db476db-5f81-4086-b212-b481497d82a2 NM_001005752.1 +1 reviewed p.R160H 1.000 143 0% 55 38.2% - - possibly_damaging(0.522) tolerated(0.52) neutral(0.184) HMMPfam_Connexin_CCC HRNR 388697 genome.wustl.edu 37 1 152193217 152193217 + Silent SNP G G A novel TCGA-BS-A0TG-01A-32D-A10B-09 TCGA-BS-A0TG-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19def402-fb8d-4b27-90dd-ce9135a3c0a2 5db476db-5f81-4086-b212-b481497d82a2 NM_001009931.1 -1 validated p.H296 0.000 184 0% 38 36.8% - - - - - NULL FAM177B 400823 genome.wustl.edu 37 1 222920028 222920028 + Silent SNP G G A novel TCGA-BS-A0TG-01A-32D-A10B-09 TCGA-BS-A0TG-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19def402-fb8d-4b27-90dd-ce9135a3c0a2 5db476db-5f81-4086-b212-b481497d82a2 NM_207468.2 +1 validated p.K47 0.145 213 0% 71 31% - - - - - NULL FAM89A 375061 genome.wustl.edu 37 1 231155819 231155819 + Silent SNP G G A novel TCGA-BS-A0TG-01A-32D-A10B-09 TCGA-BS-A0TG-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19def402-fb8d-4b27-90dd-ce9135a3c0a2 5db476db-5f81-4086-b212-b481497d82a2 NM_198552.2 -1 validated p.Y115 0.983 78 1.3% 24 33.3% - - - - - NULL NRXN1 9378 genome.wustl.edu 37 2 50463974 50463974 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0TG-01A-32D-A10B-09 TCGA-BS-A0TG-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19def402-fb8d-4b27-90dd-ce9135a3c0a2 5db476db-5f81-4086-b212-b481497d82a2 NM_001135659.1 -1 reviewed p.R1207* 1.000 100 0% 66 22.7% - - - - - HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 SLC1A4 6509 genome.wustl.edu 37 2 65245367 65245367 + Silent SNP A A G novel TCGA-BS-A0TG-01A-32D-A10B-09 TCGA-BS-A0TG-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19def402-fb8d-4b27-90dd-ce9135a3c0a2 5db476db-5f81-4086-b212-b481497d82a2 NM_003038.3 +1 validated p.V399 0.000 256 0% 60 30% - - - - - HMMPfam_SDF CTNNB1 1499 genome.wustl.edu 37 3 41266137 41266137 + Missense_Mutation SNP C C T rs121913409 byCluster TCGA-BS-A0TG-01A-32D-A10B-09 TCGA-BS-A0TG-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19def402-fb8d-4b27-90dd-ce9135a3c0a2 5db476db-5f81-4086-b212-b481497d82a2 NM_001098209.1 +1 reviewed p.S45F 1.000 79 0% 25 32% - - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL MAGI1 9223 genome.wustl.edu 37 3 65425560 65425561 + In_Frame_Ins INS - - CTG rs113903140 TCGA-BS-A0TG-01A-32D-A10B-09 TCGA-BS-A0TG-10A-01D-A14K-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19def402-fb8d-4b27-90dd-ce9135a3c0a2 5db476db-5f81-4086-b212-b481497d82a2 NM_001033057.1 -1 reviewed p.421in_frame_insQ 0.208:0.001 - - - - - - - - - NULL ST3GAL6 10402 genome.wustl.edu 37 3 98512538 98512539 + Frame_Shift_Ins INS - - TGCAGAGCAGCTCTTT novel TCGA-BS-A0TG-01A-32D-A10B-09 TCGA-BS-A0TG-10A-01D-A14K-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19def402-fb8d-4b27-90dd-ce9135a3c0a2 5db476db-5f81-4086-b212-b481497d82a2 NM_006100.2 +1 provisional p.Q314fs 1.000:0.992 - - - - - - - - - HMMPfam_Glyco_transf_29 C3orf56 285311 genome.wustl.edu 37 3 126916433 126916434 + RNA INS - - TTC rs10623171 byCluster TCGA-BS-A0TG-01A-32D-A10B-09 TCGA-BS-A0TG-10A-01D-A14K-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19def402-fb8d-4b27-90dd-ce9135a3c0a2 5db476db-5f81-4086-b212-b481497d82a2 XR_078289.1 +1 model NULL 0.043:0.029 - - - - - - - - - - ABTB1 80325 genome.wustl.edu 37 3 127396128 127396128 + Missense_Mutation SNP G G A novel TCGA-BS-A0TG-01A-32D-A10B-09 TCGA-BS-A0TG-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19def402-fb8d-4b27-90dd-ce9135a3c0a2 5db476db-5f81-4086-b212-b481497d82a2 NM_172027.2 +1 reviewed p.R254Q 0.975 50 0% 13 30.8% - - probably_damaging(0.997) deleterious(0.05) deleterious(0.811) NULL XRN1 54464 genome.wustl.edu 37 3 142119311 142119311 + Missense_Mutation SNP C C T novel TCGA-BS-A0TG-01A-32D-A10B-09 TCGA-BS-A0TG-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19def402-fb8d-4b27-90dd-ce9135a3c0a2 5db476db-5f81-4086-b212-b481497d82a2 NM_019001.3 -1 validated p.V728M 1.000 106 0% 60 25% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 byCluster TCGA-BS-A0TG-01A-32D-A10B-09 TCGA-BS-A0TG-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19def402-fb8d-4b27-90dd-ce9135a3c0a2 5db476db-5f81-4086-b212-b481497d82a2 NM_006218.2 +1 reviewed p.E545K 1.000 119 0% 87 35.6% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_PI3Ka,HMMSmart_PI3Ka,superfamily_ARM-type_fold MAB21L2 10586 genome.wustl.edu 37 4 151504531 151504531 + Missense_Mutation SNP T T C novel TCGA-BS-A0TG-01A-32D-A10B-09 TCGA-BS-A0TG-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19def402-fb8d-4b27-90dd-ce9135a3c0a2 5db476db-5f81-4086-b212-b481497d82a2 NM_006439.4 +1 reviewed p.I117T 1.000 46 0% 15 60% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Mab-21 HMGCS1 3157 genome.wustl.edu 37 5 43292694 43292694 + Missense_Mutation SNP G G A novel TCGA-BS-A0TG-01A-32D-A10B-09 TCGA-BS-A0TG-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19def402-fb8d-4b27-90dd-ce9135a3c0a2 5db476db-5f81-4086-b212-b481497d82a2 NM_001098272.1 -1 validated p.T452M 1.000 93 0% 50 40% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HMG_CoA_synt_C,superfamily_Thiolase-like DUSP22 56940 genome.wustl.edu 37 6 335142 335142 + Missense_Mutation SNP C C T novel TCGA-BS-A0TG-01A-32D-A10B-09 TCGA-BS-A0TG-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19def402-fb8d-4b27-90dd-ce9135a3c0a2 5db476db-5f81-4086-b212-b481497d82a2 NM_020185.3 +1 provisional p.A56V 0.989 143 0% 101 20.8% - - benign(0.035) tolerated(0.44) neutral(0.015) HMMPfam_DSPc,HMMSmart_SM00195,superfamily_(Phosphotyrosine protein) phosphatases II HIST1H1E 3008 genome.wustl.edu 37 6 26156898 26156898 + Missense_Mutation SNP G G C novel TCGA-BS-A0TG-01A-32D-A10B-09 TCGA-BS-A0TG-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19def402-fb8d-4b27-90dd-ce9135a3c0a2 5db476db-5f81-4086-b212-b481497d82a2 NM_005321.2 +1 reviewed p.V94L 1.000 74 0% 23 39.1% - - benign(0.322) tolerated(0.16) neutral(0.161) "HMMPfam_Linker_histone,HMMSmart_SM00526,superfamily_""Winged helix"" DNA-binding domain" SCML4 256380 genome.wustl.edu 37 6 108041960 108041960 + Missense_Mutation SNP G G A novel TCGA-BS-A0TG-01A-32D-A10B-09 TCGA-BS-A0TG-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19def402-fb8d-4b27-90dd-ce9135a3c0a2 5db476db-5f81-4086-b212-b481497d82a2 NM_198081.3 -1 validated p.P307L 0.999 70 0% 23 43.5% - - benign(0) tolerated(0.32) neutral(0.024) NULL TMEM200A 114801 genome.wustl.edu 37 6 130761731 130761731 + Missense_Mutation SNP T T C novel TCGA-BS-A0TG-01A-32D-A10B-09 TCGA-BS-A0TG-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19def402-fb8d-4b27-90dd-ce9135a3c0a2 5db476db-5f81-4086-b212-b481497d82a2 NM_052913.2 +1 provisional p.I55T 1.000 324 0% 138 35.5% - - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMPfam_DUF2371 HGC6.3 100128124 genome.wustl.edu 37 6 168377029 168377029 + Missense_Mutation SNP G G A novel TCGA-BS-A0TG-01A-32D-A10B-09 TCGA-BS-A0TG-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19def402-fb8d-4b27-90dd-ce9135a3c0a2 5db476db-5f81-4086-b212-b481497d82a2 NM_001129895.1 -1 predicted p.P102S 0.519 71 1.4% 37 27% - - - - - NULL GPT 2875 genome.wustl.edu 37 8 145732325 145732325 + Missense_Mutation SNP G G C novel TCGA-BS-A0TG-01A-32D-A10B-09 TCGA-BS-A0TG-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19def402-fb8d-4b27-90dd-ce9135a3c0a2 5db476db-5f81-4086-b212-b481497d82a2 NM_005309.2 +1 reviewed p.R478P 0.963 71 0% 20 60% - - benign(0.421) tolerated(0.49) neutral(0.147) HMMPfam_Aminotran_1_2,superfamily_PyrdxlP-dep_Trfase_major DNAI1 27019 genome.wustl.edu 37 9 34512420 34512420 + Missense_Mutation SNP T T C novel TCGA-BS-A0TG-01A-32D-A10B-09 TCGA-BS-A0TG-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19def402-fb8d-4b27-90dd-ce9135a3c0a2 5db476db-5f81-4086-b212-b481497d82a2 NM_012144.2 +1 reviewed p.V496A 0.080 52 0% 20 25% - - benign(0.004) tolerated(0.37) neutral(0.019) superfamily_WD40_like COL5A1 1289 genome.wustl.edu 37 9 137620555 137620555 + Missense_Mutation SNP G G A novel TCGA-BS-A0TG-01A-32D-A10B-09 TCGA-BS-A0TG-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19def402-fb8d-4b27-90dd-ce9135a3c0a2 5db476db-5f81-4086-b212-b481497d82a2 NM_000093.3 +1 reviewed p.E276K 1.000 63 0% 28 46.4% - - unknown(0) tolerated(0.43) - NULL PKD2L1 9033 genome.wustl.edu 37 10 102058326 102058326 + Missense_Mutation SNP C C A novel TCGA-BS-A0TG-01A-32D-A10B-09 TCGA-BS-A0TG-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19def402-fb8d-4b27-90dd-ce9135a3c0a2 5db476db-5f81-4086-b212-b481497d82a2 NM_016112.2 -1 reviewed p.G242C 1.000 62 0% 30 86.7% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_PKD_channel TRIM3 10612 genome.wustl.edu 37 11 6478950 6478950 + Missense_Mutation SNP C C T novel TCGA-BS-A0TG-01A-32D-A10B-09 TCGA-BS-A0TG-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19def402-fb8d-4b27-90dd-ce9135a3c0a2 5db476db-5f81-4086-b212-b481497d82a2 NM_006458.2 -1 reviewed p.R164H 0.998 18 0% 11 54.5% - - possibly_damaging(0.631) tolerated(0.12) deleterious(0.481) HMMSmart_SM00502 ANKK1 255239 genome.wustl.edu 37 11 113270437 113270437 + Silent SNP C C T novel TCGA-BS-A0TG-01A-32D-A10B-09 TCGA-BS-A0TG-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19def402-fb8d-4b27-90dd-ce9135a3c0a2 5db476db-5f81-4086-b212-b481497d82a2 NM_178510.1 +1 reviewed p.Y582 0.050 29 0% 15 33.3% - - - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK SIK3 23387 genome.wustl.edu 37 11 116734472 116734472 + Missense_Mutation SNP C C T novel TCGA-BS-A0TG-01A-32D-A10B-09 TCGA-BS-A0TG-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19def402-fb8d-4b27-90dd-ce9135a3c0a2 5db476db-5f81-4086-b212-b481497d82a2 NM_025164.3 -1 validated p.R566Q 1.000 165 0% 43 27.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Protein kinase-like (PK-like) SPA17 53340 genome.wustl.edu 37 11 124545166 124545166 + Silent SNP G G A novel TCGA-BS-A0TG-01A-32D-A10B-09 TCGA-BS-A0TG-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19def402-fb8d-4b27-90dd-ce9135a3c0a2 5db476db-5f81-4086-b212-b481497d82a2 NM_017425.3 +1 reviewed p.S2 1.000 119 0% 42 38.1% - - - - - NULL KRAS 3845 genome.wustl.edu 37 12 25398282 25398282 + Missense_Mutation SNP C C A rs121913535 byCluster TCGA-BS-A0TG-01A-32D-A10B-09 TCGA-BS-A0TG-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19def402-fb8d-4b27-90dd-ce9135a3c0a2 5db476db-5f81-4086-b212-b481497d82a2 NM_033360.2 -1 reviewed p.G13C 1.000 225 0% 73 49.3% - - probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases DCLK1 9201 genome.wustl.edu 37 13 36348800 36348800 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0TG-01A-32D-A10B-09 TCGA-BS-A0TG-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19def402-fb8d-4b27-90dd-ce9135a3c0a2 5db476db-5f81-4086-b212-b481497d82a2 ENST00000360631 -1 known p.R699* 1.000 88 1.1% 31 45.2% - - - - - NULL KIAA0564 23078 genome.wustl.edu 37 13 42306285 42306285 + Silent SNP G G T novel TCGA-BS-A0TG-01A-32D-A10B-09 TCGA-BS-A0TG-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19def402-fb8d-4b27-90dd-ce9135a3c0a2 5db476db-5f81-4086-b212-b481497d82a2 NM_015058.1 -1 validated p.T811 0.793 130 0% 66 10.6% - - - - - HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases MIR208B 100126336 genome.wustl.edu 37 14 23887231 23887231 + RNA SNP C C T novel TCGA-BS-A0TG-01A-32D-A10B-09 TCGA-BS-A0TG-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19def402-fb8d-4b27-90dd-ce9135a3c0a2 5db476db-5f81-4086-b212-b481497d82a2 ENST00000401172 -1 known NULL 0.994 86 0% 20 40% - - - - - - LGMN 5641 genome.wustl.edu 37 14 93176130 93176130 + Missense_Mutation SNP C C A novel TCGA-BS-A0TG-01A-32D-A10B-09 TCGA-BS-A0TG-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19def402-fb8d-4b27-90dd-ce9135a3c0a2 5db476db-5f81-4086-b212-b481497d82a2 NM_001008530.1 -1 reviewed p.D303Y 0.999 228 0% 55 40% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL HBA1 3039 genome.wustl.edu 37 16 226741 226741 + Missense_Mutation SNP C C A novel TCGA-BS-A0TG-01A-32D-A10B-09 TCGA-BS-A0TG-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19def402-fb8d-4b27-90dd-ce9135a3c0a2 5db476db-5f81-4086-b212-b481497d82a2 NM_000558.3 +1 reviewed p.T9N 0.000 164 0% 23 39.1% - - benign(0) tolerated(0.17) neutral(0.059) HMMPfam_Globin,superfamily_Globin-like ABCC1 4363 genome.wustl.edu 37 16 16165501 16165501 + Silent SNP G G A novel TCGA-BS-A0TG-01A-32D-A10B-09 TCGA-BS-A0TG-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19def402-fb8d-4b27-90dd-ce9135a3c0a2 5db476db-5f81-4086-b212-b481497d82a2 NM_004996.3 +1 reviewed p.A609 0.485 159 0% 38 42.1% - - - - - superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain BCL6B 255877 genome.wustl.edu 37 17 6928019 6928020 + In_Frame_Ins INS - - CAG novel TCGA-BS-A0TG-01A-32D-A10B-09 TCGA-BS-A0TG-10A-01D-A14K-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19def402-fb8d-4b27-90dd-ce9135a3c0a2 5db476db-5f81-4086-b212-b481497d82a2 NM_181844.3 +1 validated p.238in_frame_insS 0.939:0.528 - - - - - - - - - NULL MYH2 4620 genome.wustl.edu 37 17 10428310 10428310 + Missense_Mutation SNP C C G novel TCGA-BS-A0TG-01A-32D-A10B-09 TCGA-BS-A0TG-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19def402-fb8d-4b27-90dd-ce9135a3c0a2 5db476db-5f81-4086-b212-b481497d82a2 NM_001100112.1 -1 reviewed p.D1579H 1.000 470 0% 137 40.1% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Myosin_tail_1 ANKFN1 162282 genome.wustl.edu 37 17 54428292 54428292 + Silent SNP A A C novel TCGA-BS-A0TG-01A-32D-A10B-09 TCGA-BS-A0TG-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19def402-fb8d-4b27-90dd-ce9135a3c0a2 5db476db-5f81-4086-b212-b481497d82a2 NM_153228.2 +1 validated p.T121 0.715 99 0% 52 34.6% - - - - - NULL SMAD2 4087 genome.wustl.edu 37 18 45394757 45394757 + Missense_Mutation SNP G G A novel TCGA-BS-A0TG-01A-32D-A10B-09 TCGA-BS-A0TG-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19def402-fb8d-4b27-90dd-ce9135a3c0a2 5db476db-5f81-4086-b212-b481497d82a2 NM_001003652.2 -1 reviewed p.H198Y 0.999 192 0% 93 38.7% - - benign(0.067) tolerated(0.24) neutral(0.042) NULL ZNF211 10520 genome.wustl.edu 37 19 58153185 58153185 + Missense_Mutation SNP G G T rs191091619 by1000genomes TCGA-BS-A0TG-01A-32D-A10B-09 TCGA-BS-A0TG-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19def402-fb8d-4b27-90dd-ce9135a3c0a2 5db476db-5f81-4086-b212-b481497d82a2 NM_006385.3 +1 validated p.R457L 0.898 192 0% 51 35.3% - - benign(0.095) tolerated(0.09) neutral(0.303) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZMYND8 23613 genome.wustl.edu 37 20 45878087 45878087 + Missense_Mutation SNP C C G novel TCGA-BS-A0TG-01A-32D-A10B-09 TCGA-BS-A0TG-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19def402-fb8d-4b27-90dd-ce9135a3c0a2 5db476db-5f81-4086-b212-b481497d82a2 NM_183047.1 -1 reviewed p.R573P 1.000 220 0% 58 36.2% - - probably_damaging(0.994) deleterious(0.03) deleterious(0.817) NULL ENSG00000210082 0 genome.wustl.edu 37 MT 2991 2991 + RNA SNP T T C novel TCGA-BS-A0TG-01A-32D-A10B-09 TCGA-BS-A0TG-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19def402-fb8d-4b27-90dd-ce9135a3c0a2 5db476db-5f81-4086-b212-b481497d82a2 ENST00000387347 +1 known NULL NULL 2 0.000 16 0.938 - - - - - - SLC35A2 7355 genome.wustl.edu 37 X 48767196 48767196 + Missense_Mutation SNP C C T novel TCGA-BS-A0TG-01A-32D-A10B-09 TCGA-BS-A0TG-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19def402-fb8d-4b27-90dd-ce9135a3c0a2 5db476db-5f81-4086-b212-b481497d82a2 NM_005660.1 -1 provisional p.A57T 0.960 87 0% 27 51.9% - - benign(0.163) tolerated(0.25) neutral(0.051) NULL GLUD2 2747 genome.wustl.edu 37 X 120182341 120182341 + Missense_Mutation SNP G G A novel TCGA-BS-A0TG-01A-32D-A10B-09 TCGA-BS-A0TG-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19def402-fb8d-4b27-90dd-ce9135a3c0a2 5db476db-5f81-4086-b212-b481497d82a2 NM_012084.3 +1 reviewed p.R268H 0.900 453 0% 107 43% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ELFV_dehydrog,superfamily_NAD(P)-bd ATP2B3 492 genome.wustl.edu 37 X 152845747 152845747 + Silent SNP G G A novel TCGA-BS-A0TG-01A-32D-A10B-09 TCGA-BS-A0TG-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19def402-fb8d-4b27-90dd-ce9135a3c0a2 5db476db-5f81-4086-b212-b481497d82a2 NM_001001344.2 +1 reviewed p.T1218 0.958 88 0% 24 50% - - - - - NULL