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 RER1 11079 genome.wustl.edu 37 1 2334500 2334500 + Silent SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_007033.4 +1 reviewed p.P176 0.007 72 0% 98 35.7% 172 40.1% - - - HMMPfam_Rer1 MTOR 2475 genome.wustl.edu 37 1 11210216 11210216 + Missense_Mutation SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_004958.3 -1 reviewed p.A1513T 1.000 98 0% 136 63.2% 0 - possibly_damaging(0.677) deleterious(0) deleterious(0.685) HMMPfam_FAT,superfamily_ARM-type_fold,superfamily_SSF48452 CLCN6 1185 genome.wustl.edu 37 1 11894088 11894088 + Splice_Site SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_001286.2 +1 reviewed e15+1 1.000 198 0% 281 18.9% 0 - - - - - ZBTB17 7709 genome.wustl.edu 37 1 16268936 16268936 + Missense_Mutation SNP C C T rs150936019 by1000genomes TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 ENST00000375733 -1 known p.G680D 0.002 35 0% 32 37.5% 1 0% probably_damaging(1) tolerated(0.42) deleterious(0.514) NULL NECAP2 55707 genome.wustl.edu 37 1 16782332 16782332 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_018090.4 +1 reviewed p.W229* 1.000 46 0% 87 12.6% 9 0% - - - NULL ARHGEF10L 55160 genome.wustl.edu 37 1 17982446 17982446 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_018125.3 +1 validated p.V852I 1.000 24 0% 35 14.3% 8 12.5% possibly_damaging(0.798) tolerated(0.4) neutral(0.317) NULL C1orf38 9473 genome.wustl.edu 37 1 28211827 28211827 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_001105556.1 +1 validated p.Q581* 0.000 108 0% 153 63.4% 9 44.4% - - - NULL TMEM39B 55116 genome.wustl.edu 37 1 32566131 32566132 + Frame_Shift_Ins INS - - TCCCC novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_018056.2 +1 validated p.D405fs 0.981:0.998 - - - - - - - - - HMMPfam_Tmp39 RIMS3 9783 genome.wustl.edu 37 1 41101655 41101655 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_014747.2 -1 validated p.R98W 1.000 16 0% 29 31% 0 - probably_damaging(1) tolerated(0.19) deleterious(0.549) NULL SZT2 23334 genome.wustl.edu 37 1 43895413 43895413 + Silent SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_015284.2 +1 predicted p.S503 0.427 107 0% 120 70.8% 0 - - - - NULL NRAS 4893 genome.wustl.edu 37 1 115258747 115258747 + Missense_Mutation SNP C C T rs121913237 byCluster TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_002524.3 -1 reviewed p.G12D 1.000 322 0% 343 66.5% 1 0% possibly_damaging(0.844) deleterious(0) deleterious(0.768) HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases NOTCH2 4853 genome.wustl.edu 37 1 120512300 120512300 + Silent SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_024408.2 -1 reviewed p.T314 1.000 134 0% 154 33.1% 0 - - - - HMMSmart_EGF_CA,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_SSF57196 NBPF9 400818 genome.wustl.edu 37 1 144824710 144824710 + Silent SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_001037675.2 +1 predicted p.L429 0.002 9 0.000 18 0.278 0 - possibly_damaging(0.892) tolerated(0.25) neutral(0.388) NULL ATP8B2 57198 genome.wustl.edu 37 1 154318946 154318946 + Silent SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_020452.3 +1 reviewed p.S1039 0.990 60 0% 78 33.3% 3 0% - - - superfamily_SSF81665 VANGL2 57216 genome.wustl.edu 37 1 160385694 160385694 + Missense_Mutation SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_020335.1 +1 validated p.H23Y 1.000 23 0% 26 26.9% 1 100% unknown(0) tolerated(0.1) - HMMPfam_Strabismus SEC16B 89866 genome.wustl.edu 37 1 177930738 177930738 + Silent SNP A A G novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_033127.2 -1 validated p.S258 0.959 52 0% 58 43.1% 1 100% - - - NULL HMCN1 83872 genome.wustl.edu 37 1 186135987 186135987 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_031935.2 +1 reviewed p.D5163N 1.000 311 0% 375 32.5% 0 - probably_damaging(1) tolerated(0.27) deleterious(0.533) HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin KIF21B 23046 genome.wustl.edu 37 1 200978071 200978071 + Silent SNP G G C novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_017596.2 -1 provisional p.A91 0.011 28 0% 63 22.2% 1 0% - - - HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SSF52540 PGBD5 79605 genome.wustl.edu 37 1 230498042 230498042 + Missense_Mutation SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_024554.3 -1 reviewed p.G133E 0.012 59 0% 68 33.8% 0 - benign(0) tolerated(0.14) neutral(0.249) NULL ZNF670 93474 genome.wustl.edu 37 1 247200896 247200896 + Missense_Mutation SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_033213.2 -1 validated p.C342Y 1.000 181 0% 255 32.9% 2 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 DHX57 90957 genome.wustl.edu 37 2 39081294 39081294 + Silent SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_198963.1 -1 provisional p.C644 1.000 228 0% 291 38.5% 2 100% - - - HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases PREPL 9581 genome.wustl.edu 37 2 44556234 44556234 + Silent SNP T T G novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_006036.4 -1 reviewed p.P457 0.709 170 0% 161 21.7% 5 60% - - - superfamily_alpha/beta-Hydrolases CCDC85A 114800 genome.wustl.edu 37 2 56603037 56603037 + Silent SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_001080433.1 +1 provisional p.S513 1.000 146 0% 187 34.8% 0 - - - - NULL DCTN1 1639 genome.wustl.edu 37 2 74592654 74592654 + Missense_Mutation SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_004082.3 -1 reviewed p.R1006Q 1.000 100 0% 157 35.7% 33 42.4% benign(0.077) tolerated(0.24) neutral(0.043) NULL RETSAT 54884 genome.wustl.edu 37 2 85573154 85573154 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 ENST00000449375 -1 known p.Q143* 0.985 49 0% 59 30.5% 4 25% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_FAD/NAD(P)-binding domain GGCX 2677 genome.wustl.edu 37 2 85785709 85785709 + Silent SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_000821.4 -1 reviewed p.L131 1.000 60 0% 108 28.7% 0 - - - - HMMPfam_VKG_Carbox,HMMSmart_HTTM ADRA2B 151 genome.wustl.edu 37 2 96780734 96780734 + Silent SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 ENST00000409345 -1 known p.F385 1.000 76 0% 111 36.9% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like R3HDM1 23518 genome.wustl.edu 37 2 136409470 136409470 + Silent SNP A A G novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 ENST00000429703 +1 known p.T321A 0.199 123 0% 163 34.4% 0 - - - - NULL ARL6IP6 151188 genome.wustl.edu 37 2 153616487 153616487 + RNA SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NR_024526.1 +1 validated NULL 0.009 38 0% 38 13.2% 4 25% - - - - GCA 25801 genome.wustl.edu 37 2 163215595 163215595 + Missense_Mutation SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_012198.3 +1 validated p.R166C 1.000 281 0% 334 31.4% 16 18.7% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_EF-hand TTN 7273 genome.wustl.edu 37 2 179590278 179590278 + Missense_Mutation SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 ENST00000356127 -1 known p.V5641I 1.000 366 0% 344 29.9% 0 - unknown(0) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set DNAH7 56171 genome.wustl.edu 37 2 196822051 196822051 + Silent SNP A A G novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_018897.2 -1 validated p.P1004 0.515 130 0% 189 27.5% 0 - - - - HMMPfam_DHC_N2 PARD3B 117583 genome.wustl.edu 37 2 206166352 206166352 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_152526.4 +1 validated p.E791K 1.000 191 0% 197 35.5% 0 - probably_damaging(0.999) tolerated(0.5) deleterious(0.500) NULL MTMR14 64419 genome.wustl.edu 37 3 9719673 9719673 + Silent SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_001077525.2 +1 reviewed p.Y276 1.000 70 0% 99 36.4% 5 20% - - - superfamily_(Phosphotyrosine protein) phosphatases II BRPF1 7862 genome.wustl.edu 37 3 9776420 9776420 + Missense_Mutation SNP A A G novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_001003694.1 +1 reviewed p.Y199C 1.000 32 0% 46 21.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_EPL1 SATB1 6304 genome.wustl.edu 37 3 18391132 18391133 + In_Frame_Ins INS - - CTG novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_001131010.1 -1 validated p.607in_frame_insQ 0.003:0.002 - - - - - - - - - NULL MLH1 4292 genome.wustl.edu 37 3 37050365 37050365 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_000249.3 +1 reviewed p.E172K 1.000 450 0% 387 30% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_ATP_bd_ATPase CX3CR1 1524 genome.wustl.edu 37 3 39307902 39307902 + Silent SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_001337.3 -1 reviewed p.F33 0.673 115 0% 156 37.8% 0 - - - - superfamily_Family A G protein-coupled receptor-like BSN 8927 genome.wustl.edu 37 3 49691938 49691938 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_003458.3 +1 reviewed p.G1650E 1.000 35 0% 50 34% 0 - probably_damaging(1) - - NULL NAT6 24142 genome.wustl.edu 37 3 50334162 50334162 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_012191.2 -1 provisional p.P267S 0.999 43 0% 67 32.8% 10 20% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CISH 1154 genome.wustl.edu 37 3 50645878 50645879 + Frame_Shift_Del DEL CT CT - novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_013324.5 -1 reviewed p.S73fs 1.000:1.000 - - - - - - - - - NULL IQCF3 401067 genome.wustl.edu 37 3 51863728 51863728 + Missense_Mutation SNP G G T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_001085479.1 +1 provisional p.K22N 0.996 378 0.3% 504 21.2% 0 - probably_damaging(0.958) tolerated(0.07) deleterious(0.721) superfamily_P-loop containing nucleoside triphosphate hydrolases CACNA1D 776 genome.wustl.edu 37 3 53804453 53804453 + Silent SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_000720.2 +1 validated p.N1326 1.000 178 0% 231 35.5% 0 - - - - HMMPfam_Ion_trans,superfamily_SSF81324 PDHB 5162 genome.wustl.edu 37 3 58414129 58414129 + Silent SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 ENST00000474765 -1 known p.R317 0.000 63 0% 72 33.3% 7 71.4% - - - NULL KCTD6 200845 genome.wustl.edu 37 3 58486807 58486807 + Silent SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_001128214.1 +1 validated p.G54 1.000 133 0% 176 31.2% 12 66.6% - - - HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain CCDC80 151887 genome.wustl.edu 37 3 112357720 112357720 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_199511.1 -1 validated p.P345S 0.901 113 0% 170 38.2% 0 - possibly_damaging(0.771) tolerated(0.1) deleterious(0.573) NULL PARP9 83666 genome.wustl.edu 37 3 122274874 122274874 + Silent SNP T T C novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_031458.2 -1 validated p.E83 0.995 81 0% 116 26.7% 6 83.3% unknown(0) - - superfamily_Macro domain-like KALRN 8997 genome.wustl.edu 37 3 124380745 124380745 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_001024660.3 +1 reviewed p.M2104I 1.000 186 0% 252 25% 1 0% probably_damaging(0.975) deleterious(0) deleterious(0.861) superfamily_DBL homology domain (DH-domain) COL6A6 131873 genome.wustl.edu 37 3 130368095 130368095 + Missense_Mutation SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_001102608.1 +1 provisional p.H1808Y 0.000 66 0% 91 29.7% 0 - possibly_damaging(0.465) - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like PIK3CA 5290 genome.wustl.edu 37 3 178917478 178917478 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_006218.2 +1 reviewed p.G118D 1.000 245 0% 238 36.6% 0 - probably_damaging(0.976) deleterious(0.04) deleterious(0.767) superfamily_SSF54236 PIK3CA 5290 genome.wustl.edu 37 3 178938931 178938931 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_006218.2 +1 reviewed p.D725N 1.000 143 0% 172 31.4% 1 0% probably_damaging(1) tolerated(0.3) deleterious(0.528) superfamily_Kinase_like DGKG 1608 genome.wustl.edu 37 3 185990101 185990101 + Silent SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_001346.2 -1 reviewed p.V314 0.994 212 0% 267 29.2% 0 - - - - HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,superfamily_Cysteine-rich domain LMLN 89782 genome.wustl.edu 37 3 197751626 197751626 + Silent SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_001136049.2 +1 reviewed p.L578 1.000 233 0% 264 39.4% 1 100% - - - "HMMPfam_Peptidase_M8,superfamily_Metalloproteases (""zincins"") catalytic domain" MAEA 10296 genome.wustl.edu 37 4 1305835 1305835 + Silent SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_001017405.1 +1 reviewed p.H46 1.000 24 0% 33 30.3% 10 60% - - - NULL FAM193A 8603 genome.wustl.edu 37 4 2659543 2659543 + Missense_Mutation SNP C C T rs34435530 byCluster;byFrequency;by1000genomes TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_003704.3 +1 validated p.T151I 1.000 255 0% 259 27.4% 8 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL HTT 3064 genome.wustl.edu 37 4 3213828 3213828 + Missense_Mutation SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_002111.6 +1 reviewed p.A2196V 0.000 50 0% 52 32.7% 0 - benign(0) tolerated(0.32) neutral(0.024) NULL KIAA1239 57495 genome.wustl.edu 37 4 37448297 37448297 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_001144990.1 +1 validated p.A1563T 1.000 238 0% 299 29.8% 0 - probably_damaging(0.996) deleterious(0.02) deleterious(0.845) superfamily_WD40_like KLHL5 51088 genome.wustl.edu 37 4 39064614 39064614 + Silent SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 ENST00000381933 +1 known p.A165V 1.000 72 0% 94 33% 1 0% - - - NULL EPHA5 2044 genome.wustl.edu 37 4 66509094 66509094 + Missense_Mutation SNP A A G novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_004439.5 -1 reviewed p.F78S 0.998 160 0% 195 28.7% 0 - benign(0.062) tolerated(0.49) neutral(0.015) HMMPfam_Ephrin_lbd,HMMSmart_SM00615,superfamily_Galactose-binding domain-like AFF1 4299 genome.wustl.edu 37 4 88052954 88052954 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_005935.2 +1 validated p.M1030I 1.000 427 0% 466 30.7% 3 33.3% unknown(0) deleterious(0.01) - HMMPfam_AF-4 SLC9B2 133308 genome.wustl.edu 37 4 103988741 103988741 + Silent SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 ENST00000508136 -1 known p.F105 0.001 268 0% 291 30.6% 0 - - - - superfamily_NAD(P)-binding Rossmann-fold domains FAM173B 134145 genome.wustl.edu 37 5 10235349 10235349 + Missense_Mutation SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_199133.2 -1 validated p.V157I 0.878 180 0% 247 32.8% 3 66.6% possibly_damaging(0.739) tolerated(0.45) neutral(0.283) superfamily_S-adenosyl-L-methionine-dependent methyltransferases SLC45A2 51151 genome.wustl.edu 37 5 33984310 33984310 + Missense_Mutation SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_016180.3 -1 reviewed p.V127I 0.000 48 0% 70 51.4% 0 - unknown(0) tolerated(0.69) - superfamily_MFS general substrate transporter DEPDC1B 55789 genome.wustl.edu 37 5 59982947 59982947 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_018369.2 -1 validated p.W52* 1.000 127 0% 150 42% 0 - - - - "HMMPfam_DEP,HMMSmart_SM00049,superfamily_""Winged helix"" DNA-binding domain" KIF2A 3796 genome.wustl.edu 37 5 61659573 61659573 + Silent SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_001098511.1 +1 validated p.V438 0.950 178 0% 265 32.1% 0 - - - - HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SSF52540 GPR98 84059 genome.wustl.edu 37 5 90445988 90445988 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_032119.3 +1 reviewed p.G6192R 1.000 158 0% 217 34.1% 1 0% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL APC 324 genome.wustl.edu 37 5 112178885 112178885 + Missense_Mutation SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_000038.4 +1 reviewed p.H2532Y 1.000 82 0% 73 38.4% 3 66.6% probably_damaging(0.98) deleterious(0.01) deleterious(0.830) HMMPfam_APC_basic PCDHA4 56144 genome.wustl.edu 37 5 140188478 140188478 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_018907.2 +1 reviewed p.R569Q 0.000 52 0% 62 46.8% 1 0% benign(0.006) tolerated(0.42) neutral(0.014) superfamily_Cadherin-like PCDHB3 56132 genome.wustl.edu 37 5 140481921 140481921 + Missense_Mutation SNP A A G novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_018937.2 +1 reviewed p.Y563C 1.000 16 0% 21 38.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Cadherin-like PCDHB6 56130 genome.wustl.edu 37 5 140530392 140530392 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_018939.2 +1 reviewed p.S185N 0.000 53 0% 95 32.6% 2 50% benign(0.148) tolerated(0.29) neutral(0.042) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHGA9 56107 genome.wustl.edu 37 5 140783352 140783352 + Missense_Mutation SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_018921.2 +1 reviewed p.A278V 0.000 51 0% 63 33.3% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like POU4F3 5459 genome.wustl.edu 37 5 145719154 145719154 + Missense_Mutation SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_002700.2 +1 reviewed p.A55V 1.000 50 0% 67 32.8% 0 - benign(0.001) deleterious(0.01) neutral(0.406) NULL MRPL22 29093 genome.wustl.edu 37 5 154346344 154346344 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_014180.3 +1 reviewed p.V170M 1.000 199 0% 250 30.4% 135 41.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ribosomal_L22,superfamily_Ribosomal protein L22 HK3 3101 genome.wustl.edu 37 5 176318413 176318413 + Missense_Mutation SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_002115.2 -1 reviewed p.V79M 0.999 28 0% 44 29.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Hexokinase_1,superfamily_SSF53067 JARID2 3720 genome.wustl.edu 37 6 15512527 15512527 + Missense_Mutation SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_004973.2 +1 reviewed p.S1014F 1.000 77 0% 121 37.2% 2 0% probably_damaging(0.964) deleterious(0) deleterious(0.851) HMMSmart_SM00558,HMMPfam_JmjC MDFI 4188 genome.wustl.edu 37 6 41613889 41613889 + Silent SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_005586.3 +1 reviewed p.G34 0.993 53 0% 84 40.5% 4 50% - - - NULL AARS2 57505 genome.wustl.edu 37 6 44272437 44272437 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_020745.2 -1 validated p.A566V 0.995 25 0% 34 20.6% 4 25% probably_damaging(0.977) deleterious(0) deleterious(0.863) HMMPfam_tRNA-synt_2c DST 667 genome.wustl.edu 37 6 56347593 56347593 + Missense_Mutation SNP C C A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_015548.4 -1 reviewed p.R4474L 0.983 71 0% 87 12.6% 2 0% possibly_damaging(0.898) - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat MYO6 4646 genome.wustl.edu 37 6 76527370 76527370 + Missense_Mutation SNP C C A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_004999.3 +1 reviewed p.Q36K 1.000 126 0% 167 17.4% 1 100% benign(0.004) tolerated(0.66) neutral(0.003) superfamily_P-loop containing nucleoside triphosphate hydrolases DSE 29940 genome.wustl.edu 37 6 116757177 116757177 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_001080976.1 +1 reviewed p.D516N 1.000 72 0% 74 18.9% 2 0% benign(0.235) tolerated(0.48) neutral(0.034) NULL LOC285735 285735 genome.wustl.edu 37 6 133421282 133421282 + RNA SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NR_026969.1 +1 predicted NULL 0.000 541 0% 561 32.1% 0 - - - - - TTLL2 83887 genome.wustl.edu 37 6 167753645 167753645 + Missense_Mutation SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_031949.4 +1 validated p.P86L 0.603 87 0% 118 32.2% 0 - probably_damaging(1) tolerated(0.14) deleterious(0.750) NULL SDK1 221935 genome.wustl.edu 37 7 4285424 4285424 + Missense_Mutation SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_152744.3 +1 validated p.A2123V 0.000 18 0% 41 43.9% 1 100% benign(0) tolerated(0.71) neutral(0.002) NULL TNRC18 84629 genome.wustl.edu 37 7 5364733 5364733 + Missense_Mutation SNP C C G novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_001080495.2 -1 provisional p.K2098N 0.999 65 0% 60 33.3% 11 72.7% unknown(0) - - NULL ISPD 729920 genome.wustl.edu 37 7 16445694 16445694 + Missense_Mutation SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_001101426.3 -1 validated p.E176K 1.000 173 0% 205 30.7% 0 - possibly_damaging(0.461) tolerated(0.2) neutral(0.200) HMMPfam_IspD,superfamily_SSF53448 TNS3 64759 genome.wustl.edu 37 7 47409110 47409110 + Missense_Mutation SNP T T C novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_022748.10 -1 validated p.N378S 0.235 61 0% 55 29.1% 0 - benign(0) tolerated(1) - NULL SRRT 51593 genome.wustl.edu 37 7 100473213 100473213 + Missense_Mutation SNP T T C novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_015908.5 +1 validated p.M1T 1.000 57 0% 55 32.7% 1 100% unknown(0) deleterious(0) - NULL DNAJB9 4189 genome.wustl.edu 37 7 108213555 108213555 + Missense_Mutation SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_012328.1 +1 provisional p.R144C 1.000 343 0% 394 33% 4 50% possibly_damaging(0.902) deleterious(0.04) deleterious(0.706) NULL KCND2 3751 genome.wustl.edu 37 7 119915538 119915538 + Silent SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_012281.2 +1 reviewed p.D284 0.991 112 0% 164 35.4% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels ATG9B 285973 genome.wustl.edu 37 7 150721035 150721035 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_173681.5 -1 validated p.P159L 1.000 10 0% 29 34.5% 0 - possibly_damaging(0.631) deleterious(0.01) deleterious(0.626) NULL MLL3 58508 genome.wustl.edu 37 7 151904450 151904450 + Missense_Mutation SNP T T C novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_170606.2 -1 reviewed p.D1259G 1.000 558 0% 691 34.6% 2 0% probably_damaging(0.984) - - NULL DPP6 1804 genome.wustl.edu 37 7 154667806 154667806 + Frame_Shift_Del DEL G G - novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 ENST00000377770 +1 known p.V692fs 0.991 - - - - - - - - - HMMPfam_Peptidase_S9,superfamily_alpha/beta-Hydrolases LGI3 203190 genome.wustl.edu 37 8 22009001 22009001 + Splice_Site SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_139278.2 -1 validated e7+1 1.000 36 0% 53 41.5% 0 - - - - - TRIM35 23087 genome.wustl.edu 37 8 27156017 27156017 + Missense_Mutation SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_171982.3 -1 validated p.M165I 0.997 40 0% 74 23% 0 - benign(0.005) tolerated(0.54) neutral(0.007) NULL SLC20A2 6575 genome.wustl.edu 37 8 42297067 42297067 + Missense_Mutation SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_006749.3 -1 provisional p.A279T 0.391 271 0.4% 322 33.2% 2 50% benign(0.02) tolerated(0.46) neutral(0.013) HMMPfam_PHO4 ZFHX4 79776 genome.wustl.edu 37 8 77690514 77690514 + Missense_Mutation SNP C C G novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_024721.4 +1 validated p.T1029S 1.000 65 0% 133 34.6% 0 - benign(0) - - HMMSmart_SM00451,HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers INTS8 55656 genome.wustl.edu 37 8 95839981 95839981 + Missense_Mutation SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_017864.2 +1 provisional p.P160S 1.000 365 0% 398 32.9% 1 0% probably_damaging(0.98) deleterious(0) deleterious(0.869) NULL TRPS1 7227 genome.wustl.edu 37 8 116631928 116631928 + Missense_Mutation SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_014112.2 -1 reviewed p.G133R 1.000 48 0% 58 34.5% 2 50% probably_damaging(0.97) deleterious(0) deleterious(0.857) NULL ADCY8 114 genome.wustl.edu 37 8 131792687 131792687 + Silent SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_001115.2 -1 reviewed p.G1235 0.881 139 0% 166 38% 0 - - - - NULL ZC3H3 23144 genome.wustl.edu 37 8 144547909 144547909 + Missense_Mutation SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_015117.2 -1 validated p.G762D 1.000 45 0% 51 33.3% 29 58.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-CCCH,HMMSmart_SM00356,superfamily_CCCH zinc finger ERMP1 79956 genome.wustl.edu 37 9 5811277 5811277 + Missense_Mutation SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_024896.2 -1 validated p.M387I 1.000 259 0% 273 30.8% 2 0% benign(0.01) tolerated(0.39) neutral(0.017) NULL TYRP1 7306 genome.wustl.edu 37 9 12698500 12698500 + Missense_Mutation SNP C C G novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_000550.2 +1 reviewed p.T253R 1.000 335 0% 392 28.6% 0 - benign(0.253) tolerated(0.08) neutral(0.326) HMMPfam_Tyrosinase,superfamily_Di-copper_centre TOPORS 10210 genome.wustl.edu 37 9 32542663 32542663 + Silent SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_005802.3 -1 reviewed p.G620 0.619 243 0% 251 30.7% 2 50% - - - NULL MIR2278 100313780 genome.wustl.edu 37 9 97572334 97572334 + RNA SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 ENST00000516344 +1 known NULL 0.000 150 0% 198 29.3% 0 - - - - - TXNDC8 255220 genome.wustl.edu 37 9 113096554 113096554 + Missense_Mutation SNP A A G novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_001003936.2 -1 validated p.V24A 0.983 144 0% 139 19.4% 0 - possibly_damaging(0.792) deleterious(0.04) deleterious(0.646) superfamily_Thiordxn-like_fd,HMMPfam_Thioredoxin DFNB31 25861 genome.wustl.edu 37 9 117240824 117240824 + Silent SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 ENST00000374057 -1 known p.G282 0.000 53 0% 78 16.7% 2 50% - - - NULL LHX6 26468 genome.wustl.edu 37 9 124967038 124967038 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_199160.2 -1 reviewed p.T359M 0.903 32 0% 45 35.6% 1 0% probably_damaging(0.997) deleterious(0.03) deleterious(0.831) NULL GLE1 2733 genome.wustl.edu 37 9 131298671 131298671 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_001003722.1 +1 reviewed p.Q562* 0.921 110 0% 137 32.1% 9 44.4% - - - HMMPfam_GLE1 MAMDC4 158056 genome.wustl.edu 37 9 139748476 139748476 + Silent SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 ENST00000413647 +1 known p.Q188* 1.000 29 0% 71 33.8% 2 100% - - - HMMPfam_MAM,HMMSmart_SM00137 CACNA1B 774 genome.wustl.edu 37 9 140773607 140773607 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_000718.2 +1 validated p.R129Q 0.968 45 0% 48 27.1% 0 - benign(0.247) tolerated(0.1) neutral(0.311) superfamily_Voltage-gated potassium channels FAM188A 80013 genome.wustl.edu 37 10 15875682 15875682 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_024948.2 -1 validated p.T226M 1.000 354 0% 326 31.9% 1 100% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL CUBN 8029 genome.wustl.edu 37 10 17130276 17130276 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_001081.3 -1 reviewed p.P612S 0.936 167 0% 235 30.6% 0 - benign(0.377) tolerated(0.86) neutral(0.121) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain GPR158 57512 genome.wustl.edu 37 10 25886883 25886883 + Silent SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_020752.2 +1 validated p.G776 0.000 57 0% 83 31.3% 0 - - - - NULL ARID5B 84159 genome.wustl.edu 37 10 63850786 63850786 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_032199.2 +1 validated p.Q522* 0.901 191 0% 197 23.9% 1 100% - - - NULL MYPN 84665 genome.wustl.edu 37 10 69966645 69966645 + Missense_Mutation SNP A A G novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_032578.2 +1 validated p.R1260G 0.941 123 0% 143 24.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin GRID1 2894 genome.wustl.edu 37 10 87362285 87362285 + Silent SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 ENST00000327946 -1 known p.S708F 1.000 57 0% 74 25.7% 4 0% - - - NULL PTEN 5728 genome.wustl.edu 37 10 89720799 89720802 + Frame_Shift_Del DEL TACT TACT - novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 TACT TACT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 ENST00000371953 +1 known p.T319fs 1.000:1.000:1.000:1.000 - - - - - - - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 ZNF518A 9849 genome.wustl.edu 37 10 97916799 97916799 + Silent SNP T T C novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 ENST00000371192 +1 known p.H240 1.000 124 0% 209 26.3% 1 0% - - - PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers PAX2 5076 genome.wustl.edu 37 10 102568906 102568906 + Missense_Mutation SNP G G A rs78914041 TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_003988.3 +1 reviewed p.D278N 1.000 48 0% 55 41.8% 42 57.1% benign(0.209) tolerated(0.3) neutral(0.049) NULL RBM20 282996 genome.wustl.edu 37 10 112572419 112572419 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_001134363.1 +1 reviewed p.R755H 0.997 71 0% 87 39.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL NRAP 4892 genome.wustl.edu 37 10 115406779 115406779 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_198060.2 -1 validated p.P299L 0.000 118 0% 173 35.8% 0 - benign(0) tolerated(0.22) neutral(0.042) NULL GPR26 2849 genome.wustl.edu 37 10 125447609 125447609 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_153442.3 +1 validated p.R316H 0.999 38 0% 59 22% 0 - benign(0.092) tolerated(0.13) neutral(0.260) superfamily_SSF81321 CHST15 51363 genome.wustl.edu 37 10 125804156 125804156 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_015892.2 -1 validated p.H276Y 1.000 36 0% 41 36.6% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_P-loop containing nucleoside triphosphate hydrolases FAM175B 23172 genome.wustl.edu 37 10 126523400 126523400 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_032182.3 +1 validated p.E370K 0.828 105 0% 93 33.3% 0 - benign(0.397) deleterious(0) deleterious(0.572) NULL ENSG00000244242 0 genome.wustl.edu 37 11 1756620 1756620 + Missense_Mutation SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 ENST00000340134 -1 known p.V193M 0.989 119 0% 167 36.5% 9 11.1% probably_damaging(0.991) tolerated(0.11) deleterious(0.716) HMMPfam_CD225 OR51S1 119692 genome.wustl.edu 37 11 4869973 4869973 + Missense_Mutation SNP T T C novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_001004758.1 -1 provisional p.I156V 0.001 53 0% 97 35.1% 0 - possibly_damaging(0.939) tolerated(0.45) neutral(0.397) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CATSPER1 117144 genome.wustl.edu 37 11 65792899 65792899 + Missense_Mutation SNP A A G novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_053054.3 -1 reviewed p.Y318H 0.000 385 0% 461 31.2% 0 - possibly_damaging(0.599) tolerated(0.14) neutral(0.457) superfamily_Voltage-gated potassium channels STARD10 10809 genome.wustl.edu 37 11 72469678 72469678 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_006645.2 -1 validated p.W119* 1.000 27 0% 63 41.3% 175 10.2% - - - HMMPfam_START,HMMSmart_START,superfamily_SSF55961 ALG8 79053 genome.wustl.edu 37 11 77812180 77812180 + Missense_Mutation SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_024079.4 -1 reviewed p.E471K 1.000 112 0% 152 38.8% 143 41.9% benign(0.004) tolerated(0.92) - HMMPfam_Alg6_Alg8 ENSG00000234376 0 genome.wustl.edu 37 11 89487105 89487105 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 ENST00000411859 -1 known p.W10* 0.893 194 0% 245 20.4% 0 - - - - NULL DYNC2H1 79659 genome.wustl.edu 37 11 103191761 103191761 + Missense_Mutation SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_001080463.1 +1 reviewed p.A3917V 0.352 161 0.6% 178 29.8% 3 66.6% benign(0) tolerated(0.12) neutral(0.261) HMMPfam_Dynein_heavy TRAPPC4 51399 genome.wustl.edu 37 11 118889983 118889983 + Silent SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_016146.4 +1 validated p.R102 0.997 122 0% 157 34.4% 44 63.6% - - - HMMPfam_Sybindin,superfamily_SNARE-like DCP1B 196513 genome.wustl.edu 37 12 2062241 2062241 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_152640.3 -1 validated p.Q289* 1.000 120 0% 137 44.5% 5 60% - - - NULL AKAP3 10566 genome.wustl.edu 37 12 4736232 4736232 + Silent SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_006422.2 -1 reviewed p.S612 0.000 42 0% 52 30.8% 1 100% - - - HMMPfam_AKAP_110,HMMSmart_SM00807 SLC38A2 54407 genome.wustl.edu 37 12 46758905 46758905 + Silent SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_018976.4 -1 validated p.L211 0.765 235 0% 254 31.1% 5 0% - - - HMMPfam_Aa_trans MLL2 8085 genome.wustl.edu 37 12 49433789 49433789 + Silent SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_003482.3 -1 validated p.H2588 1.000 84 0% 107 34.6% 1 0% - - - NULL GLS2 27165 genome.wustl.edu 37 12 56881845 56881845 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_013267.2 -1 reviewed p.R20* 0.898 16 0% 20 35% 0 - - - - NULL PPFIA2 8499 genome.wustl.edu 37 12 81777850 81777850 + Silent SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_003625.2 -1 reviewed p.L312 1.000 376 0% 415 29.6% 0 - - - - NULL SOCS2 8835 genome.wustl.edu 37 12 93968497 93968497 + Splice_Site SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_003877.3 +1 reviewed e2-1 1.000 103 0% 100 20% 0 - - - - - RASAL1 8437 genome.wustl.edu 37 12 113537853 113537853 + Missense_Mutation SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_004658.1 -1 reviewed p.A766T 0.005 21 0% 37 45.9% 36 30.5% possibly_damaging(0.514) tolerated(0.1) neutral(0.459) NULL FBXO21 23014 genome.wustl.edu 37 12 117603424 117603424 + Splice_Site SNP T T C rs113711299 byCluster TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_033624.2 -1 reviewed e9-2 0.999 105 0% 108 37% 0 - - - - - C12orf43 64897 genome.wustl.edu 37 12 121442174 121442174 + Missense_Mutation SNP T T C novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_022895.1 -1 predicted p.R191G 0.973 164 0.6% 207 34.8% 4 50% possibly_damaging(0.832) tolerated(0.2) neutral(0.366) NULL POLE 5426 genome.wustl.edu 37 12 133201328 133201328 + Silent SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_006231.2 -1 validated p.E2272 1.000 57 0% 79 32.9% 25 32% - - - NULL OR4N5 390437 genome.wustl.edu 37 14 20612345 20612345 + Missense_Mutation SNP G G A rs77282548 TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_001004724.1 +1 provisional p.G151R 0.997 111 0% 177 35.6% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_7tm_1,superfamily_SSF81321 AKAP6 9472 genome.wustl.edu 37 14 33243013 33243013 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_004274.4 +1 reviewed p.V1168I 1.000 94 0% 125 28.8% 0 - possibly_damaging(0.722) tolerated(0.36) neutral(0.282) HMMSmart_SM00150,superfamily_Spectrin repeat YLPM1 56252 genome.wustl.edu 37 14 75265326 75265326 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_019589.2 +1 validated p.R1109Q 1.000 97 0% 135 29.6% 5 40% possibly_damaging(0.668) deleterious(0) deleterious(0.681) NULL EIF2B2 8892 genome.wustl.edu 37 14 75471446 75471446 + Missense_Mutation SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_014239.3 +1 reviewed p.T147I 1.000 11 0% 27 37% 23 26% benign(0.104) tolerated(0.11) neutral(0.280) HMMPfam_IF-2B,superfamily_NagB/RpiA/CoA transferase-like AHNAK2 113146 genome.wustl.edu 37 14 105408571 105408571 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_138420.2 -1 validated p.P4406L 0.957 98 0% 122 31.1% 1 100% possibly_damaging(0.896) tolerated(0.28) neutral(0.385) NULL TRPM1 4308 genome.wustl.edu 37 15 31341667 31341667 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_002420.4 -1 reviewed p.R473C 0.999 198 0% 167 28.1% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL EIF2AK4 440275 genome.wustl.edu 37 15 40284381 40284381 + Silent SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_001013703.2 +1 validated p.D879 0.011 189 0.5% 182 26.9% 0 - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase RPAP1 26015 genome.wustl.edu 37 15 41829196 41829196 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_015540.2 -1 reviewed p.A43V 0.785 80 0% 100 29% 0 - benign(0.252) tolerated(0.11) neutral(0.298) NULL CASC4 113201 genome.wustl.edu 37 15 44673036 44673036 + Missense_Mutation SNP A A G novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_138423.2 +1 reviewed p.T312A 0.558 147 0% 147 28.6% 0 - benign(0.371) tolerated(0.95) neutral(0.118) NULL DUOX1 53905 genome.wustl.edu 37 15 45455873 45455873 + Silent SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_017434.3 +1 reviewed p.R1464 1.000 97 0% 138 11.6% 8 25% - - - HMMPfam_NAD_binding_6,superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain GLDN 342035 genome.wustl.edu 37 15 51669724 51669724 + Splice_Site SNP T T C novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 ENST00000464150 +1 known NULL 0.000 26 0% 35 25.7% 0 - - - - - UNC13C 440279 genome.wustl.edu 37 15 54592414 54592414 + Missense_Mutation SNP T T G novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_001080534.1 +1 provisional p.F1371V 1.000 311 0% 325 32.6% 0 - probably_damaging(0.967) tolerated(0.09) deleterious(0.706) NULL PRTG 283659 genome.wustl.edu 37 15 55931865 55931865 + Missense_Mutation SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_173814.4 -1 validated p.A767T 1.000 264 0% 289 34.6% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like PRTG 283659 genome.wustl.edu 37 15 55971583 55971583 + Missense_Mutation SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_173814.4 -1 validated p.R345Q 1.000 200 0% 286 32.5% 0 - probably_damaging(1) deleterious(0.05) deleterious(0.845) HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 MEGF11 84465 genome.wustl.edu 37 15 66208605 66208605 + Missense_Mutation SNP G G T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_032445.2 -1 validated p.A742E 0.995 23 0% 40 35% 6 33.3% benign(0.026) tolerated(1) neutral(0.001) HMMSmart_SM00180,superfamily_EGF/Laminin DIS3L 115752 genome.wustl.edu 37 15 66618428 66618428 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_133375.3 +1 validated p.R560* 0.508 117 0% 143 27.3% 2 100% - - - HMMPfam_RNB PIAS1 8554 genome.wustl.edu 37 15 68473579 68473579 + Missense_Mutation SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_016166.1 +1 reviewed p.P504L 1.000 349 0% 457 34.6% 14 42.8% possibly_damaging(0.784) tolerated(0.06) deleterious(0.616) NULL UBL7 84993 genome.wustl.edu 37 15 74741579 74741579 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_032907.3 -1 validated p.A277V 1.000 46 0% 77 39% 98 45.9% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL C15orf39 56905 genome.wustl.edu 37 15 75500303 75500303 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_015492.4 +1 validated p.M638I 0.012 34 0% 42 33.3% 4 75% unknown(0) deleterious(0.03) - NULL SH3GL3 6457 genome.wustl.edu 37 15 84245350 84245350 + Silent SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_003027.3 +1 validated p.L161 1.000 93 0% 121 28.9% 1 0% - - - HMMPfam_BAR,HMMSmart_SM00721 TTLL13 440307 genome.wustl.edu 37 15 90800387 90800387 + Silent SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_001029964.2 +1 validated p.G241 1.000 121 0% 135 32.6% 1 0% - - - HMMPfam_TTL,superfamily_SSF56059 CERS3 204219 genome.wustl.edu 37 15 101019643 101019643 + Missense_Mutation SNP T T C novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_178842.3 -1 validated p.Y169C 1.000 252 0% 358 34.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TRAM_LAG1_CLN8,HMMSmart_SM00724 PKD1 5310 genome.wustl.edu 37 16 2152547 2152547 + Silent SNP C C T rs190470234 by1000genomes TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_001009944.2 -1 reviewed p.T3012 0.988 16 0% 33 48.5% 5 40% - - - HMMPfam_GPS,HMMSmart_SM00303 SLX4 84464 genome.wustl.edu 37 16 3633244 3633244 + Silent SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_032444.2 -1 provisional p.R1669 0.009 274 0% 318 36.2% 0 - - - - NULL ERCC4 2072 genome.wustl.edu 37 16 14041848 14041848 + Missense_Mutation SNP C C T rs121913049 byCluster;byFrequency TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_005236.2 +1 reviewed p.R799W 0.997 120 0% 182 33% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Restrict_endonuc_II-like_core NOMO3 408050 genome.wustl.edu 37 16 16346331 16346331 + Silent SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_001004067.2 +1 reviewed p.A305 1.000 767 0% 792 16.8% 2 50% - - - NULL DNAH3 55567 genome.wustl.edu 37 16 20975300 20975300 + Silent SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_017539.1 -1 provisional p.A3302 0.996 87 0% 162 37% 2 0% - - - NULL EARS2 124454 genome.wustl.edu 37 16 23546599 23546599 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_001083614.1 -1 provisional p.R190C 0.969 21 0% 27 29.6% 1 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_tRNA-synt_1c,superfamily_SSF52374 ATP2A1 487 genome.wustl.edu 37 16 28909708 28909708 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_173201.2 +1 reviewed p.R567Q 0.999 22 0% 35 28.6% 1 100% possibly_damaging(0.833) tolerated(0.15) deleterious(0.558) HMMPfam_Hydrolase,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_Calcium ATPase transmembrane domain M C16orf58 64755 genome.wustl.edu 37 16 31503605 31503605 + Missense_Mutation SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_022744.2 -1 validated p.A382T 0.999 18 0% 20 60% 21 38% possibly_damaging(0.836) tolerated(0.28) neutral(0.351) HMMPfam_DUF647 LPCAT2 54947 genome.wustl.edu 37 16 55579729 55579732 + Frame_Shift_Del DEL AGTA AGTA - novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 AGTA AGTA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_017839.4 +1 reviewed p.A313fs 0.997 - - - - - - - - - superfamily_Glycerol-3-phosphate (1)-acyltransferase TMCO7 79613 genome.wustl.edu 37 16 68961885 68961885 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_024562.1 +1 validated p.D848N 1.000 125 0% 135 31.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat,HMMPfam_DUF2435 CALB2 794 genome.wustl.edu 37 16 71416670 71416670 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_001740.3 +1 reviewed p.E131K 1.000 279 0% 376 36.4% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_EFh,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_SSF47473 ZFHX3 463 genome.wustl.edu 37 16 72828222 72828222 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_006885.3 -1 reviewed p.P2787S 1.000 152 0% 173 28.3% 4 0% probably_damaging(1) - - NULL KIAA1609 57707 genome.wustl.edu 37 16 84516214 84516214 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_020947.3 -1 validated p.T354M 1.000 53 0% 122 23.8% 7 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TLD,HMMSmart_SM00584 FAM57A 79850 genome.wustl.edu 37 17 643805 643805 + Missense_Mutation SNP A A G novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_024792.1 +1 provisional p.T157A 1.000 197 0% 264 18.9% 4 0% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_TRAM_LAG1_CLN8,HMMSmart_SM00724 TIMM22 29928 genome.wustl.edu 37 17 904309 904309 + Missense_Mutation SNP T T C novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_013337.2 +1 provisional p.I189T 0.998 436 0% 570 33.2% 4 50% benign(0.358) deleterious(0) deleterious(0.558) HMMPfam_Tim17 ZMYND15 84225 genome.wustl.edu 37 17 4648551 4648551 + Silent SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_001136046.1 +1 provisional p.Y646 0.997 26 0% 20 45% 13 7.6% - - - NULL FXR2 9513 genome.wustl.edu 37 17 7495857 7495857 + Missense_Mutation SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_004860.3 -1 reviewed p.R597Q 1.000 75 0% 122 31.1% 2 0% possibly_damaging(0.885) tolerated(0.08) deleterious(0.646) NULL DNAH9 1770 genome.wustl.edu 37 17 11572724 11572724 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_001372.3 +1 reviewed p.R989Q 0.975 43 0% 84 35.7% 0 - benign(0.004) tolerated(0.42) neutral(0.014) NULL MYO15A 51168 genome.wustl.edu 37 17 18054733 18054733 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_016239.3 +1 reviewed p.R2560Q 0.993 79 0% 120 30.8% 0 - possibly_damaging(0.656) - - NULL FLII 2314 genome.wustl.edu 37 17 18151108 18151108 + Missense_Mutation SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_002018.2 -1 reviewed p.V784M 1.000 10 0% 11 45.5% 31 35.4% possibly_damaging(0.873) deleterious(0.01) deleterious(0.745) HMMSmart_GEL,HMMPfam_Gelsolin,superfamily_SSF55753 SPECC1 92521 genome.wustl.edu 37 17 20135686 20135686 + Silent SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_001033553.1 +1 validated p.H773 0.984 19 0% 31 45.2% 16 25% - - - NULL MYO18A 399687 genome.wustl.edu 37 17 27441987 27441987 + Missense_Mutation SNP C C A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_078471.3 -1 validated p.D817Y 1.000 37 0% 56 23.2% 2 0% probably_damaging(0.976) deleterious(0) deleterious(0.863) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases ACACA 31 genome.wustl.edu 37 17 35601625 35601625 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_198834.1 -1 reviewed p.P874L 1.000 125 0% 144 37.5% 1 100% benign(0.077) deleterious(0.05) neutral(0.351) HMMPfam_ACC_central LOC100287863 100287863 genome.wustl.edu 37 17 37331839 37331839 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 XM_002343513.1 +1 model p.G51D 1.000 29 0% 34 23.5% 19 52.6% - - - NULL KCNH4 23415 genome.wustl.edu 37 17 40328190 40328190 + Silent SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_012285.2 -1 reviewed p.T237 1.000 41 0% 71 35.2% 0 - - - - superfamily_SSF81324 OSBPL7 114881 genome.wustl.edu 37 17 45886740 45886740 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_145798.2 -1 reviewed p.T662I 0.984 44 0% 74 37.8% 7 42.8% possibly_damaging(0.808) tolerated(0.25) neutral(0.341) HMMPfam_Oxysterol_BP KIF19 124602 genome.wustl.edu 37 17 72348989 72348989 + Silent SNP A A G novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_153209.3 +1 validated p.A670 0.998 161 0% 172 31.4% 7 28.5% - - - NULL NUP85 79902 genome.wustl.edu 37 17 73230992 73230992 + Missense_Mutation SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 ENST00000447371 +1 known p.R458C 0.000 23 0% 30 33.3% 7 57.1% unknown(0) - - NULL SPHK1 8877 genome.wustl.edu 37 17 74382184 74382184 + Silent SNP T T C novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_182965.2 +1 validated p.A129 0.000 43 0% 41 17.1% 1 0% - - - HMMPfam_DAGK_cat,HMMSmart_SM00046 BAHCC1 57597 genome.wustl.edu 37 17 79409907 79409907 + Missense_Mutation SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 ENST00000436173 +1 known p.P511L 0.729 15 0% 23 47.8% 0 - benign(0.176) deleterious(0) neutral(0.461) NULL HGS 9146 genome.wustl.edu 37 17 79667588 79667588 + Silent SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_004712.3 +1 provisional p.P658 0.926 28 0% 30 46.7% 106 41.5% - - - NULL DSG2 1829 genome.wustl.edu 37 18 29104786 29104786 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_001943.3 +1 reviewed p.E317K 1.000 165 0% 246 30.5% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin EPG5 57724 genome.wustl.edu 37 18 43481082 43481082 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_020964.2 -1 validated p.P1509S 0.854 67 0% 114 33.3% 1 0% benign(0) tolerated(0.17) neutral(0.059) NULL TCF4 6925 genome.wustl.edu 37 18 52928750 52928750 + Missense_Mutation SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_001083962.1 -1 reviewed p.G313R 1.000 62 0% 93 37.6% 3 0% benign(0.019) tolerated(0.05) neutral(0.346) NULL PNPLA6 10908 genome.wustl.edu 37 19 7604814 7604814 + Missense_Mutation SNP A A G novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_006702.4 +1 reviewed p.I103V 0.998 13 0% 16 25% 0 - benign(0.114) tolerated(0.17) neutral(0.068) NULL OLFM2 93145 genome.wustl.edu 37 19 9968037 9968037 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_058164.2 -1 provisional p.A161V 0.046 52 0% 65 36.9% 6 0% benign(0.008) tolerated(0.41) neutral(0.015) NULL CYP4F2 8529 genome.wustl.edu 37 19 16008277 16008277 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_001082.3 -1 reviewed p.R49W 0.013 132 0% 155 29.7% 0 - probably_damaging(0.975) deleterious(0.01) deleterious(0.823) NULL MYO9B 4650 genome.wustl.edu 37 19 17291838 17291838 + Silent SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_004145.3 +1 reviewed p.R774 0.769 72 0% 106 32.1% 2 0% - - - HMMSmart_MYSc,superfamily_SSF52540 PGLS 25796 genome.wustl.edu 37 19 17628158 17628158 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_012088.2 +1 validated p.G153D 1.000 36 0% 59 37.3% 336 39.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glucosamine_iso,superfamily_SSF100950 COMP 1311 genome.wustl.edu 37 19 18893940 18893940 + Missense_Mutation SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_000095.2 -1 reviewed p.M717I 1.000 37 0% 37 10.8% 1 0% possibly_damaging(0.918) tolerated(0.44) neutral(0.381) HMMPfam_TSP_C,superfamily_ConA_like_lec_gl WDR62 284403 genome.wustl.edu 37 19 36591674 36591674 + Missense_Mutation SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_001083961.1 +1 validated p.R922C 0.002 43 0% 37 32.4% 0 - benign(0) tolerated(0.15) neutral(0.241) NULL ZNF566 84924 genome.wustl.edu 37 19 36964304 36964304 + Silent SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_001145343.1 -1 validated p.C22 1.000 370 0% 474 27.2% 2 0% - - - HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box RYR1 6261 genome.wustl.edu 37 19 38943579 38943579 + Silent SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_000540.2 +1 reviewed p.S455 0.735 11 0% 18 50% 1 0% - - - HMMPfam_RYDR_ITPR PSMC4 5704 genome.wustl.edu 37 19 40485861 40485861 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_006503.2 +1 reviewed p.A271T 1.000 146 0% 160 38.8% 155 53.5% possibly_damaging(0.884) deleterious(0.03) deleterious(0.710) HMMSmart_SM00382,HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases ARHGAP35 2909 genome.wustl.edu 37 19 47425365 47425365 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_004491.4 +1 reviewed p.R1145* 1.000 53 0% 68 26.5% 2 50% - - - NULL AP2A1 160 genome.wustl.edu 37 19 50302906 50302906 + Silent SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_014203.2 +1 reviewed p.V385 1.000 10 0% 33 36.4% 10 30% - - - HMMPfam_Adaptin_N,superfamily_ARM repeat SHANK1 50944 genome.wustl.edu 37 19 51165573 51165573 + Silent SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_016148.2 -1 validated p.G2045 0.998 23 0% 24 33.3% 0 - - - - NULL ZNF613 79898 genome.wustl.edu 37 19 52448926 52448926 + Missense_Mutation SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_001031721.3 +1 validated p.A597V 0.024 51 0% 96 36.5% 17 70.5% benign(0) tolerated(0.14) neutral(0.249) NULL NLRP13 126204 genome.wustl.edu 37 19 56419304 56419304 + Silent SNP A A G novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_176810.2 -1 validated p.P767 0.001 101 0% 135 26.7% 0 - - - - superfamily_SSF52047 NLRP8 126205 genome.wustl.edu 37 19 56466226 56466226 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_176811.2 +1 provisional p.Q268* 0.000 155 0% 175 31.4% 1 0% - - - HMMPfam_NACHT,superfamily_P-loop containing nucleoside triphosphate hydrolases ZNF135 7694 genome.wustl.edu 37 19 58578794 58578794 + Silent SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 ENST00000391699 +1 known p.A332V 0.002 93 0% 108 32.4% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers PIGU 128869 genome.wustl.edu 37 20 33222426 33222426 + Silent SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_080476.4 -1 reviewed p.T174 0.010 190 0% 253 37.5% 7 42.8% - - - NULL TRPC4AP 26133 genome.wustl.edu 37 20 33595429 33595429 + Missense_Mutation SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_015638.2 -1 validated p.R537Q 1.000 85 0% 99 25.3% 10 30% probably_damaging(0.992) tolerated(0.06) deleterious(0.770) NULL SLA2 84174 genome.wustl.edu 37 20 35242812 35242812 + Silent SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_032214.2 -1 reviewed p.L187 0.996 73 0% 83 33.7% 0 - - - - superfamily_SH2 domain CTNNBL1 56259 genome.wustl.edu 37 20 36431375 36431375 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_030877.3 +1 reviewed p.R380* 1.000 217 0% 234 32.1% 21 19% - - - superfamily_ARM repeat SPATA2 9825 genome.wustl.edu 37 20 48522479 48522479 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_001135773.1 -1 validated p.P414S 0.974 46 0% 52 34.6% 3 66.6% benign(0.004) tolerated(0.98) - NULL GTPBP5 26164 genome.wustl.edu 37 20 60774244 60774244 + Missense_Mutation SNP T T A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_015666.3 +1 validated p.S253T 0.004 70 0% 100 29% 14 50% possibly_damaging(0.73) tolerated(0.55) neutral(0.274) HMMPfam_MMR_HSR1,superfamily_SSF52540 MYT1 4661 genome.wustl.edu 37 20 62863622 62863622 + Silent SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_004535.2 +1 reviewed p.G927 0.001 40 0% 53 32.1% 0 - - - - superfamily_SSF103637 C21orf91 54149 genome.wustl.edu 37 21 19165738 19165738 + Silent SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_001100420.1 -1 validated p.N296 0.997 346 0% 357 28% 11 45.4% - - - NULL PHF21B 112885 genome.wustl.edu 37 22 45316328 45316328 + Missense_Mutation SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_138415.3 -1 validated p.V55I 1.000 22 0% 31 25.8% 0 - benign(0.147) deleterious(0) neutral(0.458) NULL ENSG00000211459 0 genome.wustl.edu 37 MT 796 796 + RNA SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 ENST00000389680 +1 known NULL NULL 198 0% 615 46.3% 5704 43.8% - - - - PPP2R3B 28227 genome.wustl.edu 37 X 301565 301565 + Missense_Mutation SNP A A G novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_013239.4 -1 reviewed p.I429T 1.000 25 0% 35 25.7% 43 39.5% probably_damaging(1) tolerated(0.14) deleterious(0.750) superfamily_EF-hand PPEF1 5475 genome.wustl.edu 37 X 18725908 18725908 + Silent SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_006240.2 +1 reviewed p.C3 0.248 257 0% 330 23.9% 0 - - - - NULL EIF1AX 1964 genome.wustl.edu 37 X 20159755 20159755 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_001412.3 -1 reviewed p.P2S 1.000 89 0% 91 24.2% 18 61.1% unknown(0) deleterious(0) - superfamily_Nucleic acid-binding proteins PTCHD1 139411 genome.wustl.edu 37 X 23411729 23411729 + Silent SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_173495.2 +1 validated p.A698 1.000 177 0% 230 32.6% 0 - - - - HMMPfam_Patched,superfamily_Multidrug efflux transporter AcrB transmembrane domain RBM3 5935 genome.wustl.edu 37 X 48434775 48434775 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_006743.3 +1 reviewed p.G95E 0.926 160 0% 209 26.8% 70 0% unknown(0) tolerated(0.1) - superfamily_SSF54928 KCND1 3750 genome.wustl.edu 37 X 48823129 48823129 + Silent SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 ENST00000419374 -1 known p.R13W 0.000 136 0% 225 28.4% 0 - - - - NULL HUWE1 10075 genome.wustl.edu 37 X 53574888 53574888 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_031407.4 -1 reviewed p.S3461L 1.000 200 0% 269 36.4% 6 83.3% benign(0.429) deleterious(0.01) deleterious(0.545) NULL MED12 9968 genome.wustl.edu 37 X 70343021 70343021 + Missense_Mutation SNP G G A novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_005120.2 +1 reviewed p.R521H 1.000 293 0% 384 39.1% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ERCC6L 54821 genome.wustl.edu 37 X 71425833 71425833 + Silent SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_017669.2 -1 validated p.L928 0.039 82 0% 86 34.9% 2 0% - - - NULL BEX4 56271 genome.wustl.edu 37 X 102471398 102471398 + Frame_Shift_Del DEL A A - novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_001080425.2 +1 validated p.T107fs 0.222 - - - - - - - - - HMMPfam_BEX IRS4 8471 genome.wustl.edu 37 X 107977281 107977281 + Missense_Mutation SNP T T C novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_003604.2 -1 reviewed p.N765S 0.004 117 0% 119 34.5% 0 - benign(0.41) tolerated(0.21) neutral(0.176) NULL IL13RA1 3597 genome.wustl.edu 37 X 117895131 117895131 + Missense_Mutation SNP T T C novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_001560.2 +1 reviewed p.L236P 0.219 238 0.4% 289 36.7% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Fibronectin type III RAP2C 57826 genome.wustl.edu 37 X 131351069 131351069 + Silent SNP T T C novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_021183.3 -1 provisional p.Q76 1.000 209 0% 235 26.4% 6 66.6% - - - HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases PNMA3 29944 genome.wustl.edu 37 X 152226589 152226589 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17F-01A-11D-A12J-09 TCGA-D1-A17F-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e594ee1-572c-4fd7-a300-4eb5f4ab9521 49f475c3-3f95-45c6-8446-17acfc7f21c7 NM_013364.4 +1 reviewed p.R393* 0.001 49 0% 56 28.6% 0 - - - - NULL