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 CSMD2 114784 genome.wustl.edu 37 1 34238322 34238322 + Missense_Mutation SNP C C T novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_052896.3 -1 validated p.G525D 1.000 176 0% 74 45.9% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain TIE1 7075 genome.wustl.edu 37 1 43774787 43774787 + Silent SNP C C T novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_005424.2 +1 provisional p.D391 0.154 63 0% 37 37.8% 6 0% - - - HMMPfam_ig,superfamily_SSF48726 ZZZ3 26009 genome.wustl.edu 37 1 78045210 78045210 + Splice_Site SNP A A C novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_015534.4 -1 provisional e6+2 0.998 352 0% 277 46.2% 1 100% - - - - PTGFRN 5738 genome.wustl.edu 37 1 117509898 117509898 + Nonsense_Mutation SNP C C T novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_020440.2 +1 provisional p.R669* 1.000 73 0% 46 60.9% 6 0% - - - HMMSmart_SM00409,superfamily_Immunoglobulin C1orf116 79098 genome.wustl.edu 37 1 207200840 207200840 + Missense_Mutation SNP G G A novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_023938.5 -1 validated p.S35F 1.000 137 0% 119 16.8% 0 - probably_damaging(0.991) tolerated(0.56) neutral(0.451) NULL LOC642587 642587 genome.wustl.edu 37 1 209605637 209605648 + In_Frame_Del DEL AGCAGCAGCAGC AGCAGCAGCAGC - novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 AGCAGCAGCAGC AGCAGCAGCAGC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_001104548.1 +1 validated p.AAAA88in_frame_del 0.000:0.000:0.000:0.000:0.000:0.002:0.000:0.000:0.000:0.000:0.000:0.000 - - - - - - - - - NULL OR2M3 127062 genome.wustl.edu 37 1 248367063 248367063 + Missense_Mutation SNP G G A novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_001004689.1 +1 provisional p.E232K 0.534 865 0% 451 24.6% 0 - benign(0.09) tolerated(0.24) neutral(0.044) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like LOC440917 440917 genome.wustl.edu 37 2 139046423 139046423 + RNA SNP C C T novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 XR_041289.2 -1 model NULL 0.268 123 0% 35 25.7% 0 - - - - - CACNB4 785 genome.wustl.edu 37 2 152695794 152695794 + Missense_Mutation SNP G G A novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_000726.3 -1 reviewed p.R468W 1.000 302 0% 135 57% 0 - probably_damaging(0.953) deleterious(0.02) deleterious(0.780) NULL C2orf62 375307 genome.wustl.edu 37 2 219227557 219227557 + Missense_Mutation SNP C C T novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_198559.1 +1 predicted p.R188W 0.135 125 0% 45 42.2% 15 60% possibly_damaging(0.938) deleterious(0.02) deleterious(0.766) NULL ANO10 55129 genome.wustl.edu 37 3 43474163 43474163 + Silent SNP C C T novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 ENST00000448045 -1 known p.G146D 0.067 258 0% 181 33.1% 54 25.9% - - - HMMPfam_DUF590 FLNB 2317 genome.wustl.edu 37 3 58094205 58094206 + Frame_Shift_Ins INS - - A novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_001457.3 +1 reviewed p.L654fs 0.749:0.893 - - - - - - - - - HMMSmart_IG_FLMN,superfamily_Ig_E-set,HMMPfam_Filamin PLCH1 23007 genome.wustl.edu 37 3 155301343 155301343 + Frame_Shift_Del DEL T T - novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_001130960.1 -1 validated p.Y218fs 1.000 - - - - - - - - - HMMPfam_efhand_like,superfamily_EF-hand IFT80 57560 genome.wustl.edu 37 3 160025564 160025576 + Frame_Shift_Del DEL ACGAACCTAAACA ACGAACCTAAACA - novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 ACGAACCTAAACA ACGAACCTAAACA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_020800.1 -1 validated p.V320fs 0.908:0.994:1.000:1.000:1.000:1.000 - - - - - - - - - superfamily_Cyt_cd1_haem_C TRIM59 286827 genome.wustl.edu 37 3 160156108 160156110 + In_Frame_Del DEL TTC TTC - novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_173084.2 -1 validated p.E288in_frame_del 0.953:0.997:1.000 - - - - - - - - - NULL PIK3CA 5290 genome.wustl.edu 37 3 178952072 178952072 + Missense_Mutation SNP A A G novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_006218.2 +1 reviewed p.M1043V 1.000 244 0% 153 61.4% 6 16.6% benign(0.123) deleterious(0.01) neutral(0.416) HMMSmart_PI3Kc,superfamily_Kinase_like LRRC33 375387 genome.wustl.edu 37 3 196388517 196388517 + Missense_Mutation SNP C C G novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_198565.1 +1 provisional p.T668S 0.003 48 0% 44 13.6% 10 10% benign(0.006) tolerated(0.06) neutral(0.323) NULL ZNF518B 85460 genome.wustl.edu 37 4 10445029 10445029 + Missense_Mutation SNP A A G novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_053042.2 -1 validated p.L975S 0.826 377 0% 152 42.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SRP72 6731 genome.wustl.edu 37 4 57340516 57340516 + Missense_Mutation SNP G G A novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_006947.3 +1 validated p.G190D 1.000 155 0% 55 41.8% 4 0% possibly_damaging(0.582) deleterious(0.01) deleterious(0.606) HMMPfam_TPR_1,superfamily_SSF48452 MAML3 55534 genome.wustl.edu 37 4 140811064 140811075 + Frame_Shift_Del DEL TGCTGCTGCTGC TGCTGCTGCTGC - novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 TGCTGCTGCTGC TGCTGCTGCTGC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 ENST00000398940 -1 known p.Q37fs 1.000:1.000 - - - - - - - - - NULL MAP3K1 4214 genome.wustl.edu 37 5 56176590 56176591 + Frame_Shift_Ins INS - - C novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_005921.1 +1 validated p.G715fs 1.000:1.000 - - - - - - - - - NULL ERBB2IP 55914 genome.wustl.edu 37 5 65319180 65319180 + Silent SNP T T G novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_018695.2 +1 reviewed p.T220 1.000 159 0% 221 38.5% 3 100% - - - superfamily_SSF52058 PIK3R1 5295 genome.wustl.edu 37 5 67591149 67591151 + In_Frame_Del DEL TGA TGA - novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 TGA TGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_181523.1 +1 reviewed p.M582in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL SLC25A46 91137 genome.wustl.edu 37 5 110077760 110077760 + Missense_Mutation SNP G G A novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_138773.1 +1 provisional p.R99K 1.000 86 0% 246 37.4% 2 50% probably_damaging(0.988) tolerated(0.79) neutral(0.439) superfamily_Mitochondrial carrier MAPK9 5601 genome.wustl.edu 37 5 179665378 179665378 + Silent SNP A A G novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_002752.4 -1 reviewed p.D362 0.997 460 0% 360 43.1% 13 38.4% - - - superfamily_Protein kinase-like (PK-like) POM121L12 285877 genome.wustl.edu 37 7 53103790 53103790 + Silent SNP G G A novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_182595.3 +1 validated p.A142 0.000 5 0.000 11 0.545 0 - - - - NULL TSPAN12 23554 genome.wustl.edu 37 7 120450582 120450582 + Missense_Mutation SNP T T C novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_012338.3 -1 reviewed p.M135V 1.000 353 0% 156 44.2% 1 0% benign(0.15) deleterious(0.03) neutral(0.378) superfamily_Tetraspanin,HMMPfam_Tetraspannin PDLIM2 64236 genome.wustl.edu 37 8 22438946 22438946 + Missense_Mutation SNP G G A novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_176871.2 +1 validated p.V50M 0.993 58 0% 88 39.8% 2 50% benign(0.123) tolerated(0.1) neutral(0.296) HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ SNTG1 54212 genome.wustl.edu 37 8 51465702 51465702 + Missense_Mutation SNP C C T novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_018967.2 +1 reviewed p.A258V 1.000 235 0% 127 44.1% 0 - possibly_damaging(0.681) tolerated(0.52) neutral(0.252) HMMSmart_SM00233,superfamily_PH domain-like SOX17 64321 genome.wustl.edu 37 8 55370985 55370985 + Missense_Mutation SNP C C G novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_022454.3 +1 reviewed p.A96G 1.000 5 0.000 13 0.385 81 32% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HMG_box,HMMSmart_HMG,superfamily_HMG-box SLCO5A1 81796 genome.wustl.edu 37 8 70744342 70744342 + Silent SNP G G A novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_030958.2 -1 reviewed p.G189 0.000 54 0% 27 18.5% 0 - - - - HMMPfam_OATP,superfamily_MFS_gen_substrate_transporter KIAA0368 23392 genome.wustl.edu 37 9 114151885 114151885 + Missense_Mutation SNP C C T novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_001080398.1 -1 provisional p.R1311Q 1.000 126 0% 55 40% 15 0% possibly_damaging(0.522) tolerated(1) neutral(0.176) superfamily_ARM repeat PARG 8505 genome.wustl.edu 37 10 51051656 51051656 + Nonsense_Mutation SNP G G T novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_003631.2 -1 reviewed p.Y792* 1.000 452 0% 171 45% 2 0% - - - HMMPfam_PARG_cat CTNNA3 29119 genome.wustl.edu 37 10 67680276 67680276 + Nonsense_Mutation SNP G G A novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_001127384.1 -1 validated p.R834* 1.000 194 0% 104 43.3% 0 - - - - HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin SAR1A 56681 genome.wustl.edu 37 10 71912281 71912281 + Missense_Mutation SNP C C G novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_001142648.1 -1 validated p.R183T 1.000 214 0% 93 49.5% 39 30.7% possibly_damaging(0.864) deleterious(0) deleterious(0.779) HMMSmart_SM00178,PatternScan_SAR1,HMMSmart_SM00177,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases PTEN 5728 genome.wustl.edu 37 10 89720657 89720661 + Frame_Shift_Del DEL ATGTT ATGTT - novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 ATGTT ATGTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 ENST00000371953 +1 known p.M270fs 1.000:1.000:1.000:1.000:1.000 - - - - - - - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 ABCC2 1244 genome.wustl.edu 37 10 101591439 101591439 + Silent SNP G G A novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_000392.3 +1 reviewed p.A985 0.002 385 0% 148 35.8% 0 - - - - HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain RASGRP2 10235 genome.wustl.edu 37 11 64508416 64508416 + Silent SNP G G A novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 ENST00000377486 -1 known p.C125 1.000 101 0% 58 46.6% 0 - - - - HMMSmart_RasGEFN AASDHPPT 60496 genome.wustl.edu 37 11 105962057 105962057 + Missense_Mutation SNP C C G novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_015423.2 +1 reviewed p.S182R 1.000 245 0% 220 34.5% 5 40% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ACPS,superfamily_4-PPT_transf APOLD1 81575 genome.wustl.edu 37 12 12940417 12940417 + Missense_Mutation SNP C C T novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_001130415.1 +1 validated p.A224V 0.989 68 0% 79 65.8% 0 - possibly_damaging(0.915) tolerated(0.43) neutral(0.380) NULL PLEKHA5 54477 genome.wustl.edu 37 12 19427617 19427624 + Frame_Shift_Del DEL ATGGTCAA ATGGTCAA - novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 ATGGTCAA ATGGTCAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_019012.3 +1 validated p.D332fs 1.000:0.997:1.000:1.000:1.000:1.000:0.999:0.979 - - - - - - - - - NULL TWF1 5756 genome.wustl.edu 37 12 44193224 44193224 + Missense_Mutation SNP G G C novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_002822.3 -1 reviewed p.L188V 1.000 294 0% 233 28.8% 22 9% probably_damaging(0.995) deleterious(0.03) deleterious(0.822) NULL ARID2 196528 genome.wustl.edu 37 12 46246441 46246451 + Frame_Shift_Del DEL GCAAAACTGTA GCAAAACTGTA - novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 GCAAAACTGTA GCAAAACTGTA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_152641.2 +1 validated p.C1512fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.983:0.738 - - - - - - - - - NULL IFT81 28981 genome.wustl.edu 37 12 110600778 110600778 + Missense_Mutation SNP A A G novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_001143779.1 +1 validated p.K366E 0.995 204 0% 259 31.7% 19 31.5% benign(0.389) tolerated(0.29) neutral(0.153) NULL TMED2 10959 genome.wustl.edu 37 12 124081218 124081223 + In_Frame_Del DEL TGACAT TGACAT - novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 TGACAT TGACAT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_006815.3 +1 validated p.TL184in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000 - - - - - - - - - HMMPfam_EMP24_GP25L DCT 1638 genome.wustl.edu 37 13 95121167 95121167 + Missense_Mutation SNP C C G novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_001129889.1 -1 validated p.G143A 0.203 267 0% 120 40% 0 - benign(0.001) tolerated(0.55) neutral(0.007) superfamily_Di-copper_centre CMTM5 116173 genome.wustl.edu 37 14 23848246 23848246 + Silent SNP C C T novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_138460.2 +1 reviewed p.L96 1.000 438 0.2% 160 51.9% 0 - - - - HMMPfam_MARVEL POLE2 5427 genome.wustl.edu 37 14 50121527 50121531 + Frame_Shift_Del DEL ATATT ATATT - novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 ATATT ATATT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_002692.2 -1 provisional p.I348fs 1.000:1.000:1.000:1.000:1.000 - - - - - - - - - HMMPfam_DNA_pol_E_B C14orf183 196913 genome.wustl.edu 37 14 50550482 50550482 + Nonsense_Mutation SNP G G A novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_001014830.1 -1 provisional p.Q288* 0.000 44 0% 36 44.4% 0 - - - - NULL MTA1 9112 genome.wustl.edu 37 14 105905013 105905013 + Silent SNP C C T novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_004689.3 +1 reviewed p.Y11 0.995 230 0% 88 54.5% 3 33.3% unknown(0) - - HMMPfam_BAH,HMMSmart_SM00439 IGHG4 3503 genome.wustl.edu 37 14 106091456 106091456 + Silent SNP C C T novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 ENST00000390543 -1 known p.V146 0.048 541 0% 134 38.1% 0 - - - - HMMPfam_C1-set,superfamily_SSF48726 PAK6 56924 genome.wustl.edu 37 15 40564624 40564624 + Missense_Mutation SNP G G A novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_001128628.1 +1 reviewed p.R353H 1.000 63 0% 46 47.8% 0 - probably_damaging(0.999) tolerated(0.12) deleterious(0.751) NULL MAP1A 4130 genome.wustl.edu 37 15 43814131 43814131 + Missense_Mutation SNP C C T novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_002373.5 +1 reviewed p.R154C 1.000 164 0% 72 47.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL UACA 55075 genome.wustl.edu 37 15 70960070 70960070 + Missense_Mutation SNP A A C novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_018003.2 -1 validated p.Y985D 1.000 732 0% 356 43.5% 24 37.5% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL ADAMTSL3 57188 genome.wustl.edu 37 15 84592756 84592756 + Silent SNP G G A novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_207517.2 +1 validated p.Q696 0.976 255 0% 104 46.2% 0 - - - - HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat ALPK3 57538 genome.wustl.edu 37 15 85406049 85406049 + Missense_Mutation SNP C C T novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_020778.4 +1 validated p.S1640L 1.000 287 0.3% 130 46.9% 1 0% probably_damaging(0.985) deleterious(0) deleterious(0.877) HMMPfam_Alpha_kinase,HMMSmart_SM00811,superfamily_Protein kinase-like (PK-like) C16orf70 80262 genome.wustl.edu 37 16 67179309 67179309 + Missense_Mutation SNP C C T novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_025187.3 +1 provisional p.T346M 1.000 156 0% 46 28.3% 12 25% possibly_damaging(0.902) deleterious(0.03) deleterious(0.722) HMMPfam_UPF0183 SMTNL2 342527 genome.wustl.edu 37 17 4496467 4496467 + Splice_Site SNP G G T novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_001114974.1 +1 validated e3+1 0.999 79 0% 24 33.3% 0 - - - - - BCL6B 255877 genome.wustl.edu 37 17 6928019 6928020 + In_Frame_Ins INS - - CAG novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_181844.3 +1 validated p.238in_frame_insS 0.939:0.528 - - - - - - - - - NULL DVL2 1856 genome.wustl.edu 37 17 7129210 7129210 + Missense_Mutation SNP T T A novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_004422.2 -1 reviewed p.S729C 1.000 63 0% 35 54.3% 11 54.5% unknown(0) tolerated(1) - NULL MYH13 8735 genome.wustl.edu 37 17 10247166 10247166 + Silent SNP C C T novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_003802.2 -1 validated p.S615 0.000 354 0% 179 43.6% 0 - - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYH8 4626 genome.wustl.edu 37 17 10312471 10312471 + Silent SNP C C T novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_002472.2 -1 reviewed p.A636 0.808 136 0% 78 41% 0 - - - - HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 SHISA6 388336 genome.wustl.edu 37 17 11461403 11461403 + Missense_Mutation SNP G G A novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_207386.3 +1 validated p.V480I 1.000 39 0% 35 51.4% 0 - possibly_damaging(0.946) tolerated(0.39) neutral(0.406) NULL ATP6V0A1 535 genome.wustl.edu 37 17 40622193 40622199 + Frame_Shift_Del DEL AATTAAA AATTAAA - novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 AATTAAA AATTAAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_001130020.1 +1 reviewed p.E127fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000 - - - - - - - - - HMMPfam_V_ATPase_I EFTUD2 9343 genome.wustl.edu 37 17 42940144 42940144 + Missense_Mutation SNP G G A novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_004247.3 -1 validated p.T515I 1.000 173 0% 57 29.8% 9 22.2% possibly_damaging(0.82) deleterious(0) deleterious(0.755) HMMPfam_GTP_EFTU_D2,superfamily_Translat_factor AFMID 125061 genome.wustl.edu 37 17 76201707 76201707 + Missense_Mutation SNP C C T novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_001145526.1 +1 validated p.P223L 0.999 152 0% 56 16.1% 8 12.5% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_alpha/beta-Hydrolases DNAH17 8632 genome.wustl.edu 37 17 76464956 76464956 + Missense_Mutation SNP C C T novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 ENST00000389840 -1 known p.A2827T 0.750 194 0% 88 45.5% 0 - benign(0.087) tolerated(0.16) neutral(0.066) superfamily_P-loop containing nucleoside triphosphate hydrolases DNMT1 1786 genome.wustl.edu 37 19 10257086 10257086 + Silent SNP G G A novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_001130823.1 -1 reviewed p.N945 0.229 106 0% 56 48.2% 15 40% - - - NULL MAP1S 55201 genome.wustl.edu 37 19 17838512 17838512 + Silent SNP G G A novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_018174.4 +1 validated p.R773 0.048 14 0% 15 26.7% 28 21.4% - - - NULL LILRB2 10288 genome.wustl.edu 37 19 54783380 54783382 + In_Frame_Del DEL CTC CTC - novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_005874.3 -1 reviewed p.G159in_frame_del 0.000:0.000:0.001 - - - - - - - - - HMMPfam_ig,superfamily_Immunoglobulin SLC24A3 57419 genome.wustl.edu 37 20 19698233 19698233 + Missense_Mutation SNP T T G novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_020689.3 +1 validated p.V594G 1.000 372 0% 226 32.3% 0 - possibly_damaging(0.914) deleterious(0.01) deleterious(0.772) HMMPfam_Na_Ca_ex ASXL1 171023 genome.wustl.edu 37 20 31022391 31022400 + Frame_Shift_Del DEL GGGGCGAGAG GGGGCGAGAG - novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 GGGGCGAGAG GGGGCGAGAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_015338.5 +1 reviewed p.G626fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 - - - - - - - - - NULL SYCP2 10388 genome.wustl.edu 37 20 58486876 58486876 + Missense_Mutation SNP G G C novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_014258.2 -1 reviewed p.L301V 1.000 92 0% 174 32.8% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL CDH4 1002 genome.wustl.edu 37 20 60427933 60427933 + Missense_Mutation SNP G G A novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_001794.2 +1 reviewed p.V286M 1.000 211 0% 101 63.4% 0 - probably_damaging(0.974) deleterious(0) deleterious(0.861) HMMPfam_Cadherin,superfamily_Cadherin YTHDF1 54915 genome.wustl.edu 37 20 61834673 61834673 + Missense_Mutation SNP C C T rs187686193 by1000genomes TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_017798.3 -1 validated p.V207I 0.997 71 0% 29 34.5% 11 36.3% benign(0.006) tolerated(0.39) neutral(0.016) NULL DSCAM 1826 genome.wustl.edu 37 21 41516471 41516471 + Missense_Mutation SNP C C A novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_001389.3 -1 validated p.R1069L 1.000 82 0% 49 49% 0 - benign(0.001) deleterious(0.03) neutral(0.364) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III LOC100128009 100128009 genome.wustl.edu 37 22 17414886 17414886 + Missense_Mutation SNP G G A novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 XM_001726296.1 -1 model p.A148V 0.767 165 0% 82 54.9% 0 - - - - NULL ASPHD2 57168 genome.wustl.edu 37 22 26830226 26830226 + Silent SNP G G A novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_020437.4 +1 validated p.P215 0.045 177 0% 60 48.3% 1 100% - - - HMMPfam_Asp_Arg_Hydrox ELFN2 114794 genome.wustl.edu 37 22 37769461 37769461 + Missense_Mutation SNP C C T novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_052906.3 -1 validated p.C705Y 1.000 42 0% 15 66.7% 0 - benign(0.001) tolerated(0.68) neutral(0.002) NULL ENSG00000211459 0 genome.wustl.edu 37 MT 1386 1386 + RNA SNP T T C novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 ENST00000389680 +1 known NULL NULL 12 0.000 9 1.000 802 89.6% - - - - ENSG00000210082 0 genome.wustl.edu 37 MT 2607 2607 + RNA SNP T T C novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 ENST00000387347 +1 known NULL NULL 154 0% 66 24.2% 6008 21.6% - - - - USP9X 8239 genome.wustl.edu 37 X 40996249 40996249 + Missense_Mutation SNP C C G novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_001039590.2 +1 reviewed p.R210G 1.000 457 0% 175 38.9% 1 100% possibly_damaging(0.859) tolerated(0.32) neutral(0.356) NULL UBQLN2 29978 genome.wustl.edu 37 X 56590464 56590464 + Missense_Mutation SNP C C T novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_013444.3 +1 reviewed p.S53L 0.998 48 0% 34 35.3% 3 0% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_ubiquitin,HMMSmart_SM00213,superfamily_Ubiquitin-like SLC16A2 6567 genome.wustl.edu 37 X 73744294 73744294 + Missense_Mutation SNP C C T novel TCGA-BG-A0W1-01A-12D-A10G-09 TCGA-BG-A0W1-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bfe1a50d-640e-45ce-af31-7ab32d818bc9 c29e416b-fcf6-45af-99f6-f9b1c24996a8 NM_006517.3 +1 reviewed p.R300C 1.000 463 0% 153 42.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter