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 SERINC2 347735 genome.wustl.edu 37 1 31899584 31899584 + Missense_Mutation SNP G G A rs184672093 by1000genomes TCGA-A5-A0R7-01A-31D-A10B-09 TCGA-A5-A0R7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6eec89c5-279c-4978-a7a0-233516902a13 5c9c0960-f406-42fb-9673-11deab32be4c NM_178865.3 +1 validated p.G232S 0.025 238 0% 140 22.1% - - benign(0.001) tolerated(0.37) neutral(0.019) HMMPfam_Serinc UBAP2L 9898 genome.wustl.edu 37 1 154201200 154201200 + Missense_Mutation SNP C C T novel TCGA-A5-A0R7-01A-31D-A10B-09 TCGA-A5-A0R7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6eec89c5-279c-4978-a7a0-233516902a13 5c9c0960-f406-42fb-9673-11deab32be4c NM_014847.3 +1 validated p.T93M 1.000 258 0% 173 28.9% - - probably_damaging(0.997) tolerated(0.08) deleterious(0.766) NULL CACNA1E 777 genome.wustl.edu 37 1 181731719 181731719 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0R7-01A-31D-A10B-09 TCGA-A5-A0R7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6eec89c5-279c-4978-a7a0-233516902a13 5c9c0960-f406-42fb-9673-11deab32be4c NM_000721.2 +1 reviewed p.R1539* 1.000 249 0% 109 30.3% - - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CEP170 9859 genome.wustl.edu 37 1 243328914 243328914 + Missense_Mutation SNP T T C novel TCGA-A5-A0R7-01A-31D-A10B-09 TCGA-A5-A0R7-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6eec89c5-279c-4978-a7a0-233516902a13 5c9c0960-f406-42fb-9673-11deab32be4c NM_014812.2 -1 reviewed p.Q783R 0.180 293 0% 336 29.5% - - possibly_damaging(0.575) tolerated(0.45) neutral(0.209) NULL CNST 163882 genome.wustl.edu 37 1 246797890 246797891 + Splice_Site INS - - T novel TCGA-A5-A0R7-01A-31D-A10B-09 TCGA-A5-A0R7-10A-01D-A10B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6eec89c5-279c-4978-a7a0-233516902a13 5c9c0960-f406-42fb-9673-11deab32be4c NM_152609.2 +1 validated e5+1 1.000:1.000 - - - - - - - - - - OR2AK2 391191 genome.wustl.edu 37 1 248128665 248128665 + Missense_Mutation SNP T T C novel TCGA-A5-A0R7-01A-31D-A10B-09 TCGA-A5-A0R7-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6eec89c5-279c-4978-a7a0-233516902a13 5c9c0960-f406-42fb-9673-11deab32be4c NM_001004491.1 +1 provisional p.I11T 0.000 158 0% 122 12.3% - - benign(0.021) - - superfamily_SSF81321 LCT 3938 genome.wustl.edu 37 2 136547198 136547198 + Silent SNP G G T novel TCGA-A5-A0R7-01A-31D-A10B-09 TCGA-A5-A0R7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6eec89c5-279c-4978-a7a0-233516902a13 5c9c0960-f406-42fb-9673-11deab32be4c NM_002299.2 -1 reviewed p.R1836 0.095 140 0% 120 16.7% - - - - - HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat ENSG00000253049 0 genome.wustl.edu 37 3 3144607 3144607 + RNA SNP A A C novel TCGA-A5-A0R7-01A-31D-A10B-09 TCGA-A5-A0R7-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6eec89c5-279c-4978-a7a0-233516902a13 5c9c0960-f406-42fb-9673-11deab32be4c ENST00000517240 +1 novel NULL 0.000 30 0% 16 25% - - - - - - TFDP2 7029 genome.wustl.edu 37 3 141712416 141712416 + Missense_Mutation SNP C C T novel TCGA-A5-A0R7-01A-31D-A10B-09 TCGA-A5-A0R7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6eec89c5-279c-4978-a7a0-233516902a13 5c9c0960-f406-42fb-9673-11deab32be4c NM_006286.4 -1 reviewed p.R46Q 1.000 80 0% 89 30.3% - - probably_damaging(0.986) tolerated(0.12) deleterious(0.695) NULL LOC728384 728384 genome.wustl.edu 37 4 49558181 49558181 + Nonsense_Mutation SNP C C T rs143588472 by1000genomes TCGA-A5-A0R7-01A-31D-A10B-09 TCGA-A5-A0R7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6eec89c5-279c-4978-a7a0-233516902a13 5c9c0960-f406-42fb-9673-11deab32be4c XM_002344243.1 +1 model p.Q104* 0.060 5 0.000 17 0.294 - - - - - NULL UGT2B15 7366 genome.wustl.edu 37 4 69535622 69535622 + Missense_Mutation SNP C C T novel TCGA-A5-A0R7-01A-31D-A10B-09 TCGA-A5-A0R7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6eec89c5-279c-4978-a7a0-233516902a13 5c9c0960-f406-42fb-9673-11deab32be4c NM_001076.2 -1 validated p.E239K 1.000 146 0.7% 52 42.3% - - benign(0.008) tolerated(0.13) neutral(0.253) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase OSTC 58505 genome.wustl.edu 37 4 109578803 109578803 + Missense_Mutation SNP C C G novel TCGA-A5-A0R7-01A-31D-A10B-09 TCGA-A5-A0R7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6eec89c5-279c-4978-a7a0-233516902a13 5c9c0960-f406-42fb-9673-11deab32be4c NM_021227.2 +1 validated p.P144R 1.000 223 0% 193 10.4% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL PIK3R1 5295 genome.wustl.edu 37 5 67591154 67591154 + Splice_Site DEL T T - novel TCGA-A5-A0R7-01A-31D-A10B-09 TCGA-A5-A0R7-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6eec89c5-279c-4978-a7a0-233516902a13 5c9c0960-f406-42fb-9673-11deab32be4c NM_181523.1 +1 reviewed e12+2 1.000 - - - - - - - - - - PCDHA12 56137 genome.wustl.edu 37 5 140256804 140256804 + Missense_Mutation SNP C C T novel TCGA-A5-A0R7-01A-31D-A10B-09 TCGA-A5-A0R7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6eec89c5-279c-4978-a7a0-233516902a13 5c9c0960-f406-42fb-9673-11deab32be4c NM_018903.2 +1 reviewed p.R583W 0.000 293 0% 91 14.3% - - benign(0.054) deleterious(0.04) neutral(0.352) superfamily_Cadherin-like SYNPO 11346 genome.wustl.edu 37 5 149998029 149998029 + Missense_Mutation SNP G G A novel TCGA-A5-A0R7-01A-31D-A10B-09 TCGA-A5-A0R7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6eec89c5-279c-4978-a7a0-233516902a13 5c9c0960-f406-42fb-9673-11deab32be4c ENST00000314840 +1 known p.A34T 1.000 73 0% 35 34.3% - - possibly_damaging(0.839) deleterious(0) deleterious(0.765) NULL RREB1 6239 genome.wustl.edu 37 6 7229956 7229956 + Missense_Mutation SNP C C T novel TCGA-A5-A0R7-01A-31D-A10B-09 TCGA-A5-A0R7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6eec89c5-279c-4978-a7a0-233516902a13 5c9c0960-f406-42fb-9673-11deab32be4c ENST00000274670 +1 known p.P399L 1.000 11 0% 10 60% - - - - - NULL CDSN 1041 genome.wustl.edu 37 6 31084936 31084938 + In_Frame_Del DEL GCT GCT - novel TCGA-A5-A0R7-01A-31D-A10B-09 TCGA-A5-A0R7-10A-01D-A10B-09 GCT GCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6eec89c5-279c-4978-a7a0-233516902a13 5c9c0960-f406-42fb-9673-11deab32be4c NM_001264.3 -1 reviewed p.S153in_frame_del 0.001:0.002:0.002 - - - - - - - - - NULL TBX18 9096 genome.wustl.edu 37 6 85453986 85453986 + Missense_Mutation SNP G G A novel TCGA-A5-A0R7-01A-31D-A10B-09 TCGA-A5-A0R7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6eec89c5-279c-4978-a7a0-233516902a13 5c9c0960-f406-42fb-9673-11deab32be4c NM_001080508.1 -1 provisional p.R333C 1.000 86 0% 79 26.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_TBOX NCOA7 135112 genome.wustl.edu 37 6 126236503 126236503 + Silent SNP T T C novel TCGA-A5-A0R7-01A-31D-A10B-09 TCGA-A5-A0R7-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6eec89c5-279c-4978-a7a0-233516902a13 5c9c0960-f406-42fb-9673-11deab32be4c NM_181782.3 +1 validated p.F707 1.000 182 0% 54 13% - - - - - NULL GRM3 2913 genome.wustl.edu 37 7 86416164 86416164 + Silent SNP G G C novel TCGA-A5-A0R7-01A-31D-A10B-09 TCGA-A5-A0R7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6eec89c5-279c-4978-a7a0-233516902a13 5c9c0960-f406-42fb-9673-11deab32be4c NM_000840.2 +1 reviewed p.R352 0.962 82 0% 65 24.6% - - - - - HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I HTR5A 3361 genome.wustl.edu 37 7 154862972 154862972 + Silent SNP C C T novel TCGA-A5-A0R7-01A-31D-A10B-09 TCGA-A5-A0R7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6eec89c5-279c-4978-a7a0-233516902a13 5c9c0960-f406-42fb-9673-11deab32be4c NM_024012.2 +1 reviewed p.D121 0.998 55 0% 31 45.2% - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CSMD1 64478 genome.wustl.edu 37 8 2830735 2830735 + Missense_Mutation SNP G G A novel TCGA-A5-A0R7-01A-31D-A10B-09 TCGA-A5-A0R7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6eec89c5-279c-4978-a7a0-233516902a13 5c9c0960-f406-42fb-9673-11deab32be4c NM_033225.5 -1 validated p.R2944C 0.996 106 0% 54 59.3% - - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain ZFHX4 79776 genome.wustl.edu 37 8 77618597 77618597 + Silent SNP G G A novel TCGA-A5-A0R7-01A-31D-A10B-09 TCGA-A5-A0R7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6eec89c5-279c-4978-a7a0-233516902a13 5c9c0960-f406-42fb-9673-11deab32be4c NM_024721.4 +1 validated p.P758 0.007 84 0% 44 59.1% - - - - - NULL KANK1 23189 genome.wustl.edu 37 9 742271 742274 + Frame_Shift_Del DEL GCCT GCCT - rs183748218 by1000genomes TCGA-A5-A0R7-01A-31D-A10B-09 TCGA-A5-A0R7-10A-01D-A10B-09 GCCT GCCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6eec89c5-279c-4978-a7a0-233516902a13 5c9c0960-f406-42fb-9673-11deab32be4c NM_015158.2 +1 reviewed p.A1255fs 1.000:1.000:0.997:1.000 - - - - - - - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK ADARB2 105 genome.wustl.edu 37 10 1262895 1262895 + Missense_Mutation SNP C C T novel TCGA-A5-A0R7-01A-31D-A10B-09 TCGA-A5-A0R7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6eec89c5-279c-4978-a7a0-233516902a13 5c9c0960-f406-42fb-9673-11deab32be4c NM_018702.2 -1 reviewed p.A560T 0.976 49 0% 52 36.5% - - possibly_damaging(0.724) tolerated(0.14) deleterious(0.512) HMMPfam_A_deamin,HMMSmart_ADEAMc UNC5B 219699 genome.wustl.edu 37 10 73053617 73053617 + Missense_Mutation SNP C C T novel TCGA-A5-A0R7-01A-31D-A10B-09 TCGA-A5-A0R7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6eec89c5-279c-4978-a7a0-233516902a13 5c9c0960-f406-42fb-9673-11deab32be4c NM_170744.3 +1 validated p.A701V 1.000 44 0% 33 39.4% - - benign(0.207) deleterious(0.01) neutral(0.426) NULL PTEN 5728 genome.wustl.edu 37 10 89685292 89685293 + Frame_Shift_Ins INS - - ACCATTAC novel TCGA-A5-A0R7-01A-31D-A10B-09 TCGA-A5-A0R7-10A-01D-A10B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6eec89c5-279c-4978-a7a0-233516902a13 5c9c0960-f406-42fb-9673-11deab32be4c ENST00000371953 +1 known p.K66fs 1.000:1.000 - - - - - - - - - HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II PTEN 5728 genome.wustl.edu 37 10 89711927 89711928 + Frame_Shift_Ins INS - - A novel TCGA-A5-A0R7-01A-31D-A10B-09 TCGA-A5-A0R7-10A-01D-A10B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6eec89c5-279c-4978-a7a0-233516902a13 5c9c0960-f406-42fb-9673-11deab32be4c ENST00000371953 +1 known p.N184fs 1.000:1.000 - - - - - - - - - superfamily_(Phosphotyrosine protein) phosphatases II CHST1 8534 genome.wustl.edu 37 11 45671664 45671664 + Silent SNP C C T novel TCGA-A5-A0R7-01A-31D-A10B-09 TCGA-A5-A0R7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6eec89c5-279c-4978-a7a0-233516902a13 5c9c0960-f406-42fb-9673-11deab32be4c NM_003654.4 -1 validated p.T270 0.836 22 0% 23 21.7% - - - - - HMMPfam_Sulfotransfer_1,superfamily_SSF52540 CAPN5 726 genome.wustl.edu 37 11 76823688 76823688 + Silent SNP C C T novel TCGA-A5-A0R7-01A-31D-A10B-09 TCGA-A5-A0R7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6eec89c5-279c-4978-a7a0-233516902a13 5c9c0960-f406-42fb-9673-11deab32be4c NM_004055.4 +1 reviewed p.Y117 0.020 116 0% 66 31.8% - - - - - HMMPfam_Peptidase_C2,HMMSmart_CysPc,superfamily_SSF54001 DLG2 1740 genome.wustl.edu 37 11 83243813 83243813 + Missense_Mutation SNP C C T novel TCGA-A5-A0R7-01A-31D-A10B-09 TCGA-A5-A0R7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6eec89c5-279c-4978-a7a0-233516902a13 5c9c0960-f406-42fb-9673-11deab32be4c NM_001142699.1 -1 reviewed p.E711K 1.000 392 0% 97 11.3% - - probably_damaging(0.995) tolerated(0.05) deleterious(0.803) superfamily_SH3-domain C1QTNF5 114902 genome.wustl.edu 37 11 119210105 119210105 + Missense_Mutation SNP G G C novel TCGA-A5-A0R7-01A-31D-A10B-09 TCGA-A5-A0R7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6eec89c5-279c-4978-a7a0-233516902a13 5c9c0960-f406-42fb-9673-11deab32be4c NM_015645.3 -1 reviewed p.T223R 1.000 162 0% 95 10.5% - - possibly_damaging(0.61) deleterious(0.02) deleterious(0.595) HMMPfam_C1q,HMMSmart_C1Q,superfamily_TNF_like ARHGAP32 9743 genome.wustl.edu 37 11 128868228 128868228 + Frame_Shift_Del DEL T T - novel TCGA-A5-A0R7-01A-31D-A10B-09 TCGA-A5-A0R7-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6eec89c5-279c-4978-a7a0-233516902a13 5c9c0960-f406-42fb-9673-11deab32be4c NM_001142685.1 -1 validated p.N380fs 1.000 - - - - - - - - - superfamily_GTPase activation domain GAP LRTM2 654429 genome.wustl.edu 37 12 1940350 1940350 + Missense_Mutation SNP G G C novel TCGA-A5-A0R7-01A-31D-A10B-09 TCGA-A5-A0R7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6eec89c5-279c-4978-a7a0-233516902a13 5c9c0960-f406-42fb-9673-11deab32be4c NM_001039029.2 +1 validated p.R106P 0.997 75 0% 86 44.2% - - benign(0.076) tolerated(0.29) neutral(0.035) HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like OTOGL 283310 genome.wustl.edu 37 12 80714312 80714312 + Missense_Mutation SNP C C T novel TCGA-A5-A0R7-01A-31D-A10B-09 TCGA-A5-A0R7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6eec89c5-279c-4978-a7a0-233516902a13 5c9c0960-f406-42fb-9673-11deab32be4c XM_002343203.1 +1 model p.R1210W 0.047 206 0% 121 9.9% - - probably_damaging(0.985) deleterious(0.01) deleterious(0.838) superfamily_AbfB domain (Pfam 05270) RPLP0 6175 genome.wustl.edu 37 12 120637257 120637257 + Missense_Mutation SNP A A G novel TCGA-A5-A0R7-01A-31D-A10B-09 TCGA-A5-A0R7-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6eec89c5-279c-4978-a7a0-233516902a13 5c9c0960-f406-42fb-9673-11deab32be4c NM_001002.3 -1 reviewed p.I29T 1.000 94 0% 114 30.7% - - benign(0.187) deleterious(0) neutral(0.462) HMMPfam_Ribosomal_L10 HEATR4 399671 genome.wustl.edu 37 14 73969643 73969643 + Silent SNP C C T novel TCGA-A5-A0R7-01A-31D-A10B-09 TCGA-A5-A0R7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6eec89c5-279c-4978-a7a0-233516902a13 5c9c0960-f406-42fb-9673-11deab32be4c NM_203309.1 -1 provisional p.A640 0.225 237 0.4% 66 56.1% - - - - - superfamily_ARM-type_fold C14orf45 80127 genome.wustl.edu 37 14 74514635 74514635 + Missense_Mutation SNP A A C novel TCGA-A5-A0R7-01A-31D-A10B-09 TCGA-A5-A0R7-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6eec89c5-279c-4978-a7a0-233516902a13 5c9c0960-f406-42fb-9673-11deab32be4c NM_025057.2 +1 validated p.Q217P 1.000 90 0% 97 52.6% - - probably_damaging(0.978) tolerated(0.1) deleterious(0.707) NULL AHNAK2 113146 genome.wustl.edu 37 14 105408765 105408765 + Silent SNP C C G rs185751603 by1000genomes TCGA-A5-A0R7-01A-31D-A10B-09 TCGA-A5-A0R7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6eec89c5-279c-4978-a7a0-233516902a13 5c9c0960-f406-42fb-9673-11deab32be4c NM_138420.2 -1 validated p.L4341 0.000 201 0% 126 55.6% - - - - - NULL ENSG00000215407 0 genome.wustl.edu 37 15 20433918 20433918 + Missense_Mutation SNP C C G novel TCGA-A5-A0R7-01A-31D-A10B-09 TCGA-A5-A0R7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6eec89c5-279c-4978-a7a0-233516902a13 5c9c0960-f406-42fb-9673-11deab32be4c ENST00000400226 -1 known p.K568N 0.958 258 0% 93 29% - - - - - NULL TP53 7157 genome.wustl.edu 37 17 7579559 7579559 + Frame_Shift_Del DEL A A - novel TCGA-A5-A0R7-01A-31D-A10B-09 TCGA-A5-A0R7-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6eec89c5-279c-4978-a7a0-233516902a13 5c9c0960-f406-42fb-9673-11deab32be4c NM_000546.4 -1 reviewed p.L43fs 0.010 - - - - - - - - - NULL KCNH4 23415 genome.wustl.edu 37 17 40321521 40321521 + Missense_Mutation SNP C C T novel TCGA-A5-A0R7-01A-31D-A10B-09 TCGA-A5-A0R7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6eec89c5-279c-4978-a7a0-233516902a13 5c9c0960-f406-42fb-9673-11deab32be4c NM_012285.2 -1 reviewed p.V522I 1.000 56 0% 20 55% - - possibly_damaging(0.564) tolerated(0.22) neutral(0.235) superfamily_cNMP_binding DDX42 11325 genome.wustl.edu 37 17 61864579 61864579 + Missense_Mutation SNP C C G novel TCGA-A5-A0R7-01A-31D-A10B-09 TCGA-A5-A0R7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6eec89c5-279c-4978-a7a0-233516902a13 5c9c0960-f406-42fb-9673-11deab32be4c NM_007372.2 +1 reviewed p.P57R 1.000 255 0% 108 19.4% - - possibly_damaging(0.898) tolerated(0.14) deleterious(0.604) NULL TIMP2 7077 genome.wustl.edu 37 17 76853712 76853712 + Silent SNP G G A novel TCGA-A5-A0R7-01A-31D-A10B-09 TCGA-A5-A0R7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6eec89c5-279c-4978-a7a0-233516902a13 5c9c0960-f406-42fb-9673-11deab32be4c NM_003255.4 -1 reviewed p.D119 0.594 108 0.9% 101 66.3% - - - - - HMMPfam_TIMP,HMMSmart_NTR,superfamily_TIMP_like TJP3 27134 genome.wustl.edu 37 19 3739072 3739072 + Missense_Mutation SNP C C T novel TCGA-A5-A0R7-01A-31D-A10B-09 TCGA-A5-A0R7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6eec89c5-279c-4978-a7a0-233516902a13 5c9c0960-f406-42fb-9673-11deab32be4c NM_014428.1 +1 provisional p.A557V 0.994 21 0% 21 19% - - probably_damaging(0.998) tolerated(0.19) deleterious(0.524) HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_SH3_2 DPP9 91039 genome.wustl.edu 37 19 4684758 4684758 + Missense_Mutation SNP G G C novel TCGA-A5-A0R7-01A-31D-A10B-09 TCGA-A5-A0R7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6eec89c5-279c-4978-a7a0-233516902a13 5c9c0960-f406-42fb-9673-11deab32be4c NM_139159.4 -1 reviewed p.L699V 1.000 160 0% 109 11% - - possibly_damaging(0.95) tolerated(0.27) neutral(0.427) HMMPfam_Peptidase_S9,superfamily_SSF53474 GGN 199720 genome.wustl.edu 37 19 38877250 38877250 + Missense_Mutation SNP C C T novel TCGA-A5-A0R7-01A-31D-A10B-09 TCGA-A5-A0R7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6eec89c5-279c-4978-a7a0-233516902a13 5c9c0960-f406-42fb-9673-11deab32be4c NM_152657.3 -1 reviewed p.G218R 0.008 21 0% 18 38.9% - - benign(0.104) deleterious(0.02) neutral(0.391) NULL CEACAM7 1087 genome.wustl.edu 37 19 42181360 42181360 + Missense_Mutation SNP C C T novel TCGA-A5-A0R7-01A-31D-A10B-09 TCGA-A5-A0R7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6eec89c5-279c-4978-a7a0-233516902a13 5c9c0960-f406-42fb-9673-11deab32be4c NM_006890.3 -1 provisional p.A260T 0.803 366 0% 181 21.5% - - possibly_damaging(0.947) tolerated(0.08) deleterious(0.691) NULL RSPH6A 81492 genome.wustl.edu 37 19 46318101 46318101 + Missense_Mutation SNP C C G novel TCGA-A5-A0R7-01A-31D-A10B-09 TCGA-A5-A0R7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6eec89c5-279c-4978-a7a0-233516902a13 5c9c0960-f406-42fb-9673-11deab32be4c NM_030785.3 -1 reviewed p.A112P 0.000 60 0% 65 35.4% - - benign(0.001) deleterious(0) neutral(0.445) NULL GYS1 2997 genome.wustl.edu 37 19 49481246 49481246 + Missense_Mutation SNP C C T novel TCGA-A5-A0R7-01A-31D-A10B-09 TCGA-A5-A0R7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6eec89c5-279c-4978-a7a0-233516902a13 5c9c0960-f406-42fb-9673-11deab32be4c NM_002103.4 -1 reviewed p.D415N 1.000 197 1.5% 110 39.1% - - benign(0.266) tolerated(0.18) neutral(0.084) HMMPfam_Glycogen_syn RPL13A 23521 genome.wustl.edu 37 19 49993146 49993146 + Silent SNP C C T novel TCGA-A5-A0R7-01A-31D-A10B-09 TCGA-A5-A0R7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6eec89c5-279c-4978-a7a0-233516902a13 5c9c0960-f406-42fb-9673-11deab32be4c NM_012423.2 +1 reviewed p.L19 1.000 150 0% 171 31% - - - - - HMMPfam_Ribosomal_L13,superfamily_Ribosomal_L13 C20orf132 140699 genome.wustl.edu 37 20 35807790 35807791 + Frame_Shift_Ins INS - - CTTATAGACAGGGCCCCGCGGCCGGCACT rs11467214 TCGA-A5-A0R7-01A-31D-A10B-09 TCGA-A5-A0R7-10A-01D-A10B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6eec89c5-279c-4978-a7a0-233516902a13 5c9c0960-f406-42fb-9673-11deab32be4c ENST00000400441 -1 known p.H31fs 1.000:0.052 - - - - - - - - - NULL C21orf62 56245 genome.wustl.edu 37 21 34166478 34166478 + Silent SNP C C T novel TCGA-A5-A0R7-01A-31D-A10B-09 TCGA-A5-A0R7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6eec89c5-279c-4978-a7a0-233516902a13 5c9c0960-f406-42fb-9673-11deab32be4c ENST00000479548 -1 known p.T85 0.027 154 0% 40 40% - - - - - NULL ERAS 3266 genome.wustl.edu 37 X 48687738 48687738 + Missense_Mutation SNP G G A novel TCGA-A5-A0R7-01A-31D-A10B-09 TCGA-A5-A0R7-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6eec89c5-279c-4978-a7a0-233516902a13 5c9c0960-f406-42fb-9673-11deab32be4c NM_181532.2 +1 provisional p.D69N 0.948 73 0% 33 30.3% - - probably_damaging(0.999) tolerated(0.05) deleterious(0.836) HMMSmart_RAS,HMMPfam_Ras,superfamily_SSF52540 MED12 9968 genome.wustl.edu 37 X 70338669 70338669 + Missense_Mutation SNP C C G novel TCGA-A5-A0R7-01A-31D-A10B-09 TCGA-A5-A0R7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6eec89c5-279c-4978-a7a0-233516902a13 5c9c0960-f406-42fb-9673-11deab32be4c NM_005120.2 +1 reviewed p.P22R 1.000 35 0% 34 32.4% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CTAG2 30848 genome.wustl.edu 37 X 153880708 153880708 + Missense_Mutation SNP C C T novel TCGA-A5-A0R7-01A-31D-A10B-09 TCGA-A5-A0R7-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6eec89c5-279c-4978-a7a0-233516902a13 5c9c0960-f406-42fb-9673-11deab32be4c NM_020994.3 -1 reviewed p.G156E 0.000 179 0% 191 47.1% - - unknown(0) deleterious(0) - NULL