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 PLEKHN1 84069 genome.wustl.edu 37 1 906518 906518 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032129.2 +1 validated p.A213V 0.001 9 0.000 22 0.273 - - possibly_damaging(0.512) tolerated(0.11) neutral(0.444) NULL ISG15 9636 genome.wustl.edu 37 1 949415 949415 + Silent SNP C C T rs60405958 TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005101.3 +1 validated p.L19 0.001 18 0% 38 36.8% - - - - - HMMPfam_ubiquitin,HMMSmart_UBQ,superfamily_SSF54236 SDF4 51150 genome.wustl.edu 37 1 1153099 1153099 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016547.2 -1 validated p.A333V 0.000 52 0% 124 34.7% - - benign(0.008) - - NULL ATAD3C 219293 genome.wustl.edu 37 1 1398008 1398008 + Missense_Mutation SNP G G A rs189474682 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001039211.2 +1 validated p.G337R 1.000 24 0% 55 76.4% - - benign(0.396) tolerated(0.21) neutral(0.171) HMMPfam_AAA,superfamily_SSF52540 CDK11A 728642 genome.wustl.edu 37 1 1580553 1580553 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000340677 -1 known p.R191W 0.984 222 0% 389 14.7% - - - - - NULL SLC35E2 9906 genome.wustl.edu 37 1 1602956 1602956 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001110781.1 -1 validated p.I233 1.000 41 0% 103 40.8% - - - - - HMMPfam_TPT CDK11A 728642 genome.wustl.edu 37 1 1647897 1647897 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024011.2 -1 reviewed p.E126* 0.986 361 0% 459 25.5% - - - - - NULL C1orf222 339457 genome.wustl.edu 37 1 1857241 1857241 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000493964 -1 known p.S645F 0.192 34 0% 54 33.3% - - probably_damaging(0.982) deleterious(0.04) deleterious(0.775) NULL KIAA1751 85452 genome.wustl.edu 37 1 1897873 1897873 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080484.1 -1 predicted p.E446D 0.849 31 0% 64 31.2% - - possibly_damaging(0.842) tolerated(0.53) neutral(0.330) NULL PANK4 55229 genome.wustl.edu 37 1 2440304 2440304 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018216.1 -1 reviewed p.Y768 0.825 19 0% 32 25% - - - - - superfamily_Hypothetical protein At2g17340 PANK4 55229 genome.wustl.edu 37 1 2445818 2445818 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018216.1 -1 reviewed p.L488F 1.000 26 0% 61 26.2% - - possibly_damaging(0.914) deleterious(0) deleterious(0.810) HMMPfam_DUF89,superfamily_Hypothetical protein At2g17340 PRDM16 63976 genome.wustl.edu 37 1 3334422 3334422 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022114.3 +1 reviewed p.L907M 1.000 48 0% 86 37.2% - - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL MEGF6 1953 genome.wustl.edu 37 1 3428133 3428133 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000485002 -1 known p.Q205R 0.000 25 0% 70 31.4% - - - - - HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_2,superfamily_EGF/Laminin WRAP73 49856 genome.wustl.edu 37 1 3548007 3548007 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000378322 -1 known p.T421 0.000 17 0% 21 52.4% - - - - - NULL CCDC27 148870 genome.wustl.edu 37 1 3669362 3669362 + Missense_Mutation SNP C C T rs185617592 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152492.2 +1 validated p.T106M 0.002 26 0% 70 12.9% - - probably_damaging(0.969) tolerated(0.1) deleterious(0.698) NULL DFFB 1677 genome.wustl.edu 37 1 3782527 3782527 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004402.2 +1 reviewed p.A131 0.001 8 0.000 33 0.333 - - - - - HMMPfam_DFF40,superfamily_His-Me finger endonucleases NPHP4 261734 genome.wustl.edu 37 1 5923425 5923425 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015102.2 -1 reviewed p.A1394V 0.006 158 0% 278 29.9% - - benign(0.009) tolerated(0.63) neutral(0.004) NULL NPHP4 261734 genome.wustl.edu 37 1 6046231 6046231 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015102.2 -1 reviewed p.G40V 0.814 108 0% 149 32.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CHD5 26038 genome.wustl.edu 37 1 6188990 6188990 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015557.1 -1 provisional p.G1176D 1.000 14 0% 24 33.3% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_SSF52540 RNF207 388591 genome.wustl.edu 37 1 6270307 6270307 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_207396.2 +1 validated p.A275 0.993 45 0% 103 34% - - - - - NULL RNF207 388591 genome.wustl.edu 37 1 6272392 6272392 + Silent SNP C C T rs182853068 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_207396.2 +1 validated p.D466 0.998 31 0% 51 47.1% - - - - - NULL LINC00337 148645 genome.wustl.edu 37 1 6298938 6298938 + RNA SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XR_040930.2 +1 model NULL 0.002 40 0% 63 39.7% - - - - - - GPR153 387509 genome.wustl.edu 37 1 6314101 6314101 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_207370.2 -1 validated p.R155C 1.000 22 0% 63 39.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 TNFRSF25 8718 genome.wustl.edu 37 1 6522378 6522378 + Splice_Site SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000475730 -1 known NULL 0.000 34 0% 89 37.1% - - - - - - TAS1R1 80835 genome.wustl.edu 37 1 6631244 6631244 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138697.3 +1 reviewed p.A156V 0.982 32 0% 57 28.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I TAS1R1 80835 genome.wustl.edu 37 1 6635003 6635003 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138697.3 +1 reviewed p.V271M 0.983 36 0% 68 32.4% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I CAMTA1 23261 genome.wustl.edu 37 1 7798420 7798420 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015215.1 +1 validated p.R1354C 1.000 54 0% 40 40% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL VAMP3 9341 genome.wustl.edu 37 1 7837288 7837288 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004781.3 +1 reviewed p.D47 0.003 124 0% 194 32.5% - - - - - HMMPfam_Synaptobrevin,PatternScan_SYNAPTOBREVIN PER3 8863 genome.wustl.edu 37 1 7897172 7897172 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016831.1 +1 reviewed p.I1162T 1.000 111 0% 59 10.2% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL SLC45A1 50651 genome.wustl.edu 37 1 8384575 8384575 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080397.1 +1 provisional p.P62 0.929 14 0% 32 25% - - - - - NULL SLC2A7 155184 genome.wustl.edu 37 1 9070244 9070244 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_207420.2 -1 provisional p.C358 0.999 11 0% 11 36.4% - - - - - HMMPfam_Sugar_tr,superfamily_MFS_gen_substrate_transporter H6PD 9563 genome.wustl.edu 37 1 9324078 9324078 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004285.3 +1 reviewed p.R509H 0.026 24 0% 55 34.5% - - benign(0) tolerated(0.3) neutral(0.029) superfamily_SSF55347 SLC25A33 84275 genome.wustl.edu 37 1 9613727 9613727 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032315.2 +1 validated p.V34F 1.000 134 0% 82 13.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Mitoch_carrier,HMMPfam_Mito_carr PIK3CD 5293 genome.wustl.edu 37 1 9783259 9783259 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005026.3 +1 validated p.A835T 1.000 42 0% 82 42.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PI3_PI4_kinase,HMMSmart_PI3Kc,superfamily_Kinase_like NMNAT1 64802 genome.wustl.edu 37 1 10041203 10041203 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022787.3 +1 provisional p.K138N 0.983 112 0% 92 25% - - benign(0) tolerated(0.56) neutral(0.006) HMMPfam_CTP_transf_2,superfamily_Nucleotidylyl transferase KIF1B 23095 genome.wustl.edu 37 1 10318594 10318594 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015074.3 +1 reviewed p.D76G 1.000 160 0% 108 39.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases CASZ1 54897 genome.wustl.edu 37 1 10699932 10699932 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001079843.1 -1 validated p.Q1449 1.000 29 0% 70 38.6% - - - - - NULL C1orf127 148345 genome.wustl.edu 37 1 11015225 11015225 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000377008 -1 known p.S99L 0.001 110 0% 169 38.5% - - probably_damaging(0.957) deleterious(0) deleterious(0.845) NULL TARDBP 23435 genome.wustl.edu 37 1 11077011 11077011 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007375.3 +1 reviewed p.E117K 1.000 184 0% 182 40.1% - - possibly_damaging(0.704) deleterious(0) deleterious(0.698) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD MASP2 10747 genome.wustl.edu 37 1 11090818 11090818 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006610.2 -1 reviewed p.M403I 0.988 144 0% 100 35% - - benign(0.316) tolerated(0.15) neutral(0.340) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain SRM 6723 genome.wustl.edu 37 1 11115064 11115064 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003132.2 -1 validated p.S281 0.002 14 0% 27 33.3% - - - - - superfamily_S-adenosyl-L-methionine-dependent methyltransferases ANGPTL7 10218 genome.wustl.edu 37 1 11253721 11253721 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021146.2 +1 provisional p.W188R 1.000 97 0% 66 45.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Fibrinogen_C,HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like FBXO2 26232 genome.wustl.edu 37 1 11710617 11710617 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012168.4 -1 reviewed p.P99 0.874 7 0.000 12 0.417 - - - - - superfamily_F-box domain MAD2L2 10459 genome.wustl.edu 37 1 11737002 11737002 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001127325.1 -1 reviewed p.D79N 1.000 133 0% 259 33.6% - - benign(0.003) tolerated(0.09) neutral(0.296) HMMPfam_HORMA,superfamily_The spindle assembly checkpoint protein mad2 C1orf187 374946 genome.wustl.edu 37 1 11766740 11766740 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198545.3 +1 validated p.R142H 0.966 35 0% 51 43.1% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL CLCN6 1185 genome.wustl.edu 37 1 11898475 11898475 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001286.2 +1 reviewed p.T793 0.004 78 0% 108 37% - - - - - HMMPfam_CBS MFN2 9927 genome.wustl.edu 37 1 12066710 12066710 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001127660.1 +1 reviewed p.T611I 1.000 120 0% 191 31.4% - - probably_damaging(0.965) tolerated(0.1) deleterious(0.694) HMMPfam_Fzo_mitofusin AADACL4 343066 genome.wustl.edu 37 1 12726558 12726558 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001013630.1 +1 provisional p.N346D 0.093 37 0% 20 35% - - possibly_damaging(0.602) deleterious(0.05) deleterious(0.554) HMMPfam_Abhydrolase_3,superfamily_SSF53474 PRAMEF1 65121 genome.wustl.edu 37 1 12854205 12854205 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_023013.1 +1 provisional p.E143 0.000 292 0% 188 23.9% - - - - - superfamily_SSF52047 HNRNPCL1 343069 genome.wustl.edu 37 1 12908008 12908008 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001013631.1 -1 validated p.G45 1.000 447 0% 167 16.8% - - - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD PRDM2 7799 genome.wustl.edu 37 1 14108992 14108992 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012231.4 +1 reviewed p.P1568S 0.958 43 0% 42 21.4% - - possibly_damaging(0.525) deleterious(0.04) deleterious(0.526) NULL CTRC 11330 genome.wustl.edu 37 1 15768952 15768952 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000375943 +1 known p.G17E 0.007 28 0% 37 40.5% - - unknown(0) - - NULL CTRC 11330 genome.wustl.edu 37 1 15769968 15769968 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007272.2 +1 reviewed p.I137 1.000 48 0% 74 25.7% - - - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases FBLIM1 54751 genome.wustl.edu 37 1 16091636 16091636 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001024215.1 +1 reviewed p.E53G 0.343 21 0% 32 50% - - benign(0) tolerated(1) - NULL SPEN 23013 genome.wustl.edu 37 1 16254911 16254912 + Frame_Shift_Ins INS - - A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015001.2 +1 reviewed p.S727fs 1.000:1.000 - - - - - - - - - NULL CLCNKA 1187 genome.wustl.edu 37 1 16358283 16358283 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004070.3 +1 reviewed p.V567 0.944 75 0% 150 30.7% - - - - - HMMPfam_CBS,HMMSmart_CBS,superfamily_SSF54631 CLCNKA 1187 genome.wustl.edu 37 1 16359706 16359706 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004070.3 +1 reviewed p.F657 0.015 144 0% 261 45.2% - - - - - HMMPfam_CBS CROCC 9696 genome.wustl.edu 37 1 17257067 17257067 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014675.3 +1 validated p.A276V 1.000 25 0% 57 36.8% - - unknown(0) tolerated(0.12) - NULL CROCC 9696 genome.wustl.edu 37 1 17272853 17272853 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014675.3 +1 validated p.E746K 1.000 13 0% 42 31% - - unknown(0) tolerated(0.22) - NULL ARHGEF10L 55160 genome.wustl.edu 37 1 17914012 17914012 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018125.3 +1 validated p.G32E 1.000 65 0% 114 34.2% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ACTL8 81569 genome.wustl.edu 37 1 18152706 18152706 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030812.2 +1 validated p.F265L 0.964 18 0% 27 37% - - possibly_damaging(0.465) tolerated(1) neutral(0.153) HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067 PAX7 5081 genome.wustl.edu 37 1 19071417 19071417 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001135254.1 +1 reviewed p.A504 1.000 23 0% 39 17.9% - - - - - NULL UBR4 23352 genome.wustl.edu 37 1 19421438 19421438 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020765.2 -1 validated p.L4570I 1.000 75 0% 67 38.8% - - probably_damaging(0.955) deleterious(0.04) deleterious(0.748) superfamily_ARM repeat UBR4 23352 genome.wustl.edu 37 1 19452988 19452988 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020765.2 -1 validated p.T3130 0.159 278 0% 112 33% - - - - - superfamily_ARM repeat UBR4 23352 genome.wustl.edu 37 1 19455505 19455505 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020765.2 -1 validated p.N2990 0.649 90 0% 29 51.7% - - - - - NULL UBR4 23352 genome.wustl.edu 37 1 19487588 19487588 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020765.2 -1 validated p.S1743 0.092 87 0% 32 40.6% - - - - - superfamily_ARM repeat UBR4 23352 genome.wustl.edu 37 1 19526243 19526243 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020765.2 -1 validated p.R94W 0.998 94 0% 51 43.1% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL AKR7A3 22977 genome.wustl.edu 37 1 19611574 19611574 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012067.2 -1 validated p.T181M 0.950 81 0% 138 35.5% - - benign(0.003) deleterious(0.01) neutral(0.406) HMMPfam_Aldo_ket_red,superfamily_Aldo/ket_red AKR7A2 8574 genome.wustl.edu 37 1 19630787 19630787 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003689.2 -1 validated p.A338T 0.018 64 0% 86 38.4% - - benign(0) tolerated(0.2) neutral(0.049) superfamily_Aldo/ket_red CAPZB 832 genome.wustl.edu 37 1 19670864 19670864 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000375145 -1 known p.V302A 1.000 279 0% 450 37.6% - - possibly_damaging(0.882) deleterious(0) deleterious(0.789) HMMPfam_F_actin_cap_B,superfamily_Subunits of heterodimeric actin filament capping protein Capz HTR6 3362 genome.wustl.edu 37 1 19992508 19992508 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000871.1 +1 provisional p.L88 1.000 26 0% 50 58% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 PLA2G5 5322 genome.wustl.edu 37 1 20416366 20416366 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000929.2 +1 reviewed p.F90 0.000 79 0% 74 32.4% - - - - - HMMPfam_Phospholip_A2_1,HMMSmart_PA2c,superfamily_PhospholipaseA2 PLA2G2C 391013 genome.wustl.edu 37 1 20490611 20490611 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001105572.1 -1 provisional p.R109M 0.996 61 0% 71 53.5% - - benign(0.301) tolerated(0.08) neutral(0.393) HMMPfam_Phospholip_A2_1,HMMSmart_PA2c,superfamily_PhospholipaseA2 MUL1 79594 genome.wustl.edu 37 1 20827756 20827756 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024544.2 -1 validated p.S162 0.000 41 0% 53 41.5% - - - - - NULL PINK1 65018 genome.wustl.edu 37 1 20975080 20975080 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032409.2 +1 reviewed p.S402 1.000 34 0% 47 40.4% - - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase KIF17 57576 genome.wustl.edu 37 1 20991156 20991156 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020816.2 -1 validated p.R1004H 1.000 94 0% 157 33.1% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL KIF17 57576 genome.wustl.edu 37 1 21009304 21009304 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020816.2 -1 validated p.R769W 0.985 49 0% 81 40.7% - - benign(0.006) deleterious(0) neutral(0.445) NULL KIF17 57576 genome.wustl.edu 37 1 21042054 21042054 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020816.2 -1 validated p.L104M 1.000 46 0% 63 31.7% - - possibly_damaging(0.946) tolerated(0.18) neutral(0.446) HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SSF52540 RAP1GAP 5909 genome.wustl.edu 37 1 21936747 21936747 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001145658.1 -1 validated p.G353R 1.000 32 0% 46 39.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Rap_GAP,superfamily_Rap/Ran-GAP (Pfam 02145) CELA3B 23436 genome.wustl.edu 37 1 22310808 22310808 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007352.2 +1 reviewed p.I209T 0.000 82 0% 106 28.3% - - benign(0) tolerated(0.28) neutral(0.032) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases ZBTB40 9923 genome.wustl.edu 37 1 22850917 22850917 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001083621.1 +1 validated p.A1169T 0.582 61 0% 61 50.8% - - benign(0.006) tolerated(0.36) neutral(0.020) NULL C1QA 712 genome.wustl.edu 37 1 22965626 22965626 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015991.2 +1 reviewed p.V155A 0.998 40 0% 77 36.4% - - probably_damaging(0.972) deleterious(0) deleterious(0.859) HMMPfam_C1q,HMMSmart_SM00110,superfamily_TNF-like EPHB2 2048 genome.wustl.edu 37 1 23111076 23111076 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004442.6 +1 reviewed p.S106 1.000 44 0% 73 28.8% - - - - - HMMPfam_Ephrin_lbd,HMMSmart_EPH_lbd,superfamily_Gal_bind_like RPL11 6135 genome.wustl.edu 37 1 24022315 24022315 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000975.2 +1 reviewed p.A142T 1.000 145 0% 144 41.7% - - benign(0.001) tolerated(0.18) neutral(0.056) HMMPfam_Ribosomal_L5_C,superfamily_Ribosomal protein L5 PITHD1 57095 genome.wustl.edu 37 1 24112833 24112833 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020362.4 +1 validated p.L152I 1.000 405 0% 434 32.5% - - probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMPfam_DUF1000 GALE 2582 genome.wustl.edu 37 1 24124347 24124347 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000403.3 -1 reviewed p.H122 0.973 55 0% 87 34.5% - - - - - HMMPfam_Epimerase,superfamily_NAD(P)-binding Rossmann-fold domains IL28RA 163702 genome.wustl.edu 37 1 24483645 24483645 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_170743.2 -1 reviewed p.T513I 0.000 43 0% 53 50.9% - - benign(0.323) tolerated(0.3) neutral(0.130) NULL RUNX3 864 genome.wustl.edu 37 1 25228777 25228777 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001031680.2 -1 reviewed p.A376T 0.996 8 0.000 20 0.350 - - benign(0) tolerated(0.33) neutral(0.024) HMMPfam_RunxI TMEM50A 23585 genome.wustl.edu 37 1 25667022 25667022 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014313.2 +1 reviewed p.D15E 0.908 144 0% 192 41.1% - - benign(0.006) tolerated(0.22) neutral(0.042) HMMPfam_UPF0220 SEPN1 57190 genome.wustl.edu 37 1 26138361 26138361 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000354177 +1 known p.P390 1.000 25 0% 55 21.8% - - - - - NULL FAM54B 56181 genome.wustl.edu 37 1 26153116 26153116 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001099625.1 +1 validated p.R84C 0.991 38 0% 35 34.3% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_DUF729 C1orf135 79000 genome.wustl.edu 37 1 26162312 26162312 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024037.1 -1 provisional p.K82 0.023 291 0% 153 40.5% - - - - - NULL PAQR7 164091 genome.wustl.edu 37 1 26189688 26189688 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178422.4 -1 validated p.A215T 0.134 38 0% 49 42.9% - - benign(0.018) tolerated(0.27) neutral(0.034) HMMPfam_HlyIII PAQR7 164091 genome.wustl.edu 37 1 26190021 26190021 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178422.4 -1 validated p.A104T 0.997 32 0% 45 11.1% - - benign(0.047) tolerated(0.14) neutral(0.253) HMMPfam_HlyIII EXTL1 2134 genome.wustl.edu 37 1 26359729 26359729 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004455.2 +1 reviewed p.R481C 1.000 55 0% 81 11.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_transf_64,superfamily_SSF53448 SLC30A2 7780 genome.wustl.edu 37 1 26366370 26366370 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001004434.1 -1 validated p.R291C 0.019 47 0% 63 33.3% - - probably_damaging(0.974) deleterious(0.02) deleterious(0.799) HMMPfam_Cation_efflux CNKSR1 10256 genome.wustl.edu 37 1 26515800 26515800 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006314.2 +1 reviewed p.E635* 1.000 73 0% 103 26.2% - - - - - NULL CATSPER4 378807 genome.wustl.edu 37 1 26524491 26524491 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198137.1 +1 validated p.A201T 1.000 87 0% 104 41.3% - - probably_damaging(0.998) tolerated(0.11) deleterious(0.746) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels ZDHHC18 84243 genome.wustl.edu 37 1 27175108 27175108 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032283.2 +1 validated p.G169V 1.000 27 0% 25 28% - - benign(0.214) tolerated(0.11) neutral(0.293) NULL ZDHHC18 84243 genome.wustl.edu 37 1 27177048 27177048 + Splice_Site SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032283.2 +1 validated e5-1 1.000 149 0% 185 31.4% - - - - - - SLC9A1 6548 genome.wustl.edu 37 1 27434331 27434331 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003047.3 -1 validated p.R364C 1.000 16 0% 39 38.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Na_H_Exchanger WDTC1 23038 genome.wustl.edu 37 1 27632780 27632780 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015023.3 +1 validated p.M646T 1.000 39 0% 47 42.6% - - possibly_damaging(0.895) deleterious(0.01) deleterious(0.758) NULL WASF2 10163 genome.wustl.edu 37 1 27742567 27742567 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006990.2 -1 reviewed p.Y150C 1.000 266 0% 168 39.3% - - unknown(0) deleterious(0) - NULL C1orf38 9473 genome.wustl.edu 37 1 28206192 28206192 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001105556.1 +1 validated p.E91D 0.025 141 0% 211 36.5% - - benign(0) tolerated(0.61) neutral(0.004) NULL C1orf38 9473 genome.wustl.edu 37 1 28208706 28208706 + Missense_Mutation SNP G G A rs192452720 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001105556.1 +1 validated p.V291I 0.224 15 0% 24 25% - - benign(0.001) tolerated(1) - NULL C1orf38 9473 genome.wustl.edu 37 1 28209377 28209377 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000456990 +1 known p.G262D 0.000 56 0% 76 38.2% - - - - - NULL XKR8 55113 genome.wustl.edu 37 1 28293190 28293190 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018053.2 +1 provisional p.A223T 0.035 45 0% 61 29.5% - - benign(0.005) tolerated(0.08) neutral(0.300) HMMPfam_XK-related EYA3 2140 genome.wustl.edu 37 1 28339780 28339780 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001990.2 -1 reviewed p.G204D 1.000 121 0% 53 41.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PHACTR4 65979 genome.wustl.edu 37 1 28792956 28792956 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_023923.3 +1 reviewed p.P177H 0.977 146 0% 130 34.6% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL PTPRU 10076 genome.wustl.edu 37 1 29609287 29609287 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000323874 +1 known p.A652T 0.774 25 0% 43 46.5% - - - - - NULL PTPRU 10076 genome.wustl.edu 37 1 29633659 29633659 + Splice_Site SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_133177.2 +1 reviewed e19+1 1.000 138 0% 190 28.9% - - - - - - PTPRU 10076 genome.wustl.edu 37 1 29641894 29641894 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005704.3 +1 reviewed p.G1090S 1.000 98 0% 158 38.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II LOC100288450 100288450 genome.wustl.edu 37 1 29814891 29814891 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002342037.1 -1 model p.Y51 0.999 35 0% 37 13.5% - - - - - NULL LAPTM5 7805 genome.wustl.edu 37 1 31210499 31210499 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006762.2 -1 reviewed p.K186N 0.999 185 0% 196 40.3% - - benign(0.005) tolerated(0.83) neutral(0.001) HMMPfam_Mtp LAPTM5 7805 genome.wustl.edu 37 1 31214495 31214495 + Missense_Mutation SNP C C T rs183822203 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006762.2 -1 reviewed p.V84I 0.948 71 0% 95 36.8% - - benign(0.111) tolerated(0.48) neutral(0.019) HMMPfam_Mtp PEF1 553115 genome.wustl.edu 37 1 32096225 32096225 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012392.3 -1 reviewed p.R282W 1.000 80 0% 76 23.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL BAI2 576 genome.wustl.edu 37 1 32222009 32222009 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001703.2 -1 reviewed p.S143 0.021 19 0% 54 25.9% - - - - - NULL SPOCD1 90853 genome.wustl.edu 37 1 32256723 32256723 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000452755 -1 known p.E329K 0.728 13 0% 27 37% - - benign(0) - - HMMPfam_SPOC SPOCD1 90853 genome.wustl.edu 37 1 32257948 32257948 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144569.4 -1 provisional p.R944C 0.998 18 0% 35 40% - - probably_damaging(0.999) tolerated(0.09) deleterious(0.787) HMMPfam_SPOC SPOCD1 90853 genome.wustl.edu 37 1 32258997 32258997 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144569.4 -1 provisional p.A856V 0.004 28 0% 62 29% - - possibly_damaging(0.861) tolerated(0.12) deleterious(0.594) NULL TMEM39B 55116 genome.wustl.edu 37 1 32557412 32557412 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018056.2 +1 validated p.R243W 1.000 36 0% 52 30.8% - - probably_damaging(0.968) deleterious(0.02) deleterious(0.793) HMMPfam_Tmp39 TMEM234 56063 genome.wustl.edu 37 1 32682831 32682831 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000373593 -1 known p.T119 0.000 80 0% 127 35.4% - - - - - HMMPfam_UPF0546 LCK 3932 genome.wustl.edu 37 1 32745264 32745264 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000373562 +1 known p.L349 0.002 43 0% 56 39.3% - - - - - HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like HDAC1 3065 genome.wustl.edu 37 1 32782343 32782343 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004964.2 +1 reviewed p.R80 0.982 99 0% 72 31.9% - - - - - HMMPfam_Hist_deacetyl,superfamily_Arginase/deacetylase ZSCAN20 7579 genome.wustl.edu 37 1 33960946 33960946 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_145238.3 +1 validated p.S1001N 0.912 106 0% 43 34.9% - - benign(0.034) tolerated(0.12) neutral(0.263) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CSMD2 114784 genome.wustl.edu 37 1 34008405 34008405 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_052896.3 -1 validated p.C2920 0.996 57 0% 30 33.3% - - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD2 114784 genome.wustl.edu 37 1 34046420 34046420 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_052896.3 -1 validated p.N2442K 0.966 109 0% 66 39.4% - - probably_damaging(0.973) deleterious(0.03) deleterious(0.779) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CSMD2 114784 genome.wustl.edu 37 1 34554641 34554641 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_052896.3 -1 validated p.E74A 1.000 93 0% 107 29.9% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain LOC100287174 100287174 genome.wustl.edu 37 1 35250588 35250588 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002342072.1 -1 model p.A216T 1.000 243 0% 370 34.6% - - - - - NULL DLGAP3 58512 genome.wustl.edu 37 1 35370109 35370109 + Silent SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080418.1 -1 provisional p.P292 0.851 30 0% 70 37.1% - - - - - NULL ZMYM1 79830 genome.wustl.edu 37 1 35579880 35579880 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024772.3 +1 validated p.L817 0.000 99 0% 112 39.3% - - - - - NULL ZMYM4 9202 genome.wustl.edu 37 1 35847337 35847337 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005095.2 +1 validated p.S516L 0.001 229 0% 146 41.8% - - benign(0.004) deleterious(0.02) neutral(0.383) HMMPfam_zf-FCS,HMMSmart_SM00746 EIF2C1 26523 genome.wustl.edu 37 1 36354167 36354167 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012199.2 +1 reviewed p.Y55 1.000 63 0% 36 36.1% - - - - - superfamily_PAZ domain SH3D21 79729 genome.wustl.edu 37 1 36773736 36773736 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000453908 +1 known p.L78M 1.000 47 0% 91 37.4% - - possibly_damaging(0.685) tolerated(0.15) deleterious(0.485) HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SH3 ZC3H12A 80149 genome.wustl.edu 37 1 37948838 37948838 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025079.2 +1 validated p.S476P 0.000 31 0% 58 39.7% - - benign(0) deleterious(0) neutral(0.445) NULL SNIP1 79753 genome.wustl.edu 37 1 38003480 38003480 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024700.2 -1 provisional p.E354* 1.000 380 0% 276 11.2% - - - - - HMMPfam_FHA,superfamily_SMAD/FHA domain SNIP1 79753 genome.wustl.edu 37 1 38005927 38005927 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024700.2 -1 provisional p.R253C 1.000 76 0% 91 38.5% - - possibly_damaging(0.806) tolerated(0.09) deleterious(0.600) superfamily_SMAD/FHA domain RSPO1 284654 genome.wustl.edu 37 1 38080006 38080006 + Splice_Site SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001038633.2 -1 reviewed e3-1 1.000 37 0% 37 40.5% - - - - - - EPHA10 284656 genome.wustl.edu 37 1 38184399 38184399 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001099439.1 -1 validated p.R949H 1.000 26 3.8% 25 64% - - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_SAM_1,HMMSmart_SM00454,superfamily_SAM/Pointed domain EPHA10 284656 genome.wustl.edu 37 1 38227201 38227201 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001099439.1 -1 validated p.A242 0.937 40 0% 69 47.8% - - - - - NULL EPHA10 284656 genome.wustl.edu 37 1 38228491 38228491 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001099439.1 -1 validated p.A46V 1.000 161 0% 258 37.2% - - probably_damaging(0.98) deleterious(0.01) deleterious(0.830) HMMPfam_Ephrin_lbd,HMMSmart_SM00615,superfamily_Galactose-binding domain-like MTF1 4520 genome.wustl.edu 37 1 38305682 38305682 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005955.2 -1 reviewed p.S186N 1.000 116 0% 59 35.6% - - probably_damaging(0.999) tolerated(0.06) deleterious(0.813) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SF3A3 10946 genome.wustl.edu 37 1 38444398 38444398 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006802.2 -1 reviewed p.T310I 1.000 151 0% 93 39.8% - - possibly_damaging(0.717) tolerated(0.21) neutral(0.303) NULL UTP11L 51118 genome.wustl.edu 37 1 38484984 38484984 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016037.3 +1 validated p.F166V 1.000 124 0% 105 22.9% - - benign(0.009) tolerated(0.26) neutral(0.035) HMMPfam_Utp11 POU3F1 5453 genome.wustl.edu 37 1 38511475 38511475 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002699.3 -1 validated p.N314S 1.000 24 0% 44 25% - - benign(0.156) tolerated(0.09) neutral(0.310) HMMPfam_Pou,HMMSmart_POU,superfamily_Lambda_like_DNA MACF1 23499 genome.wustl.edu 37 1 39812757 39812757 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033044.2 +1 reviewed p.R2004* 1.000 62 1.6% 43 44.2% - - - - - HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin MACF1 23499 genome.wustl.edu 37 1 39880151 39880151 + Splice_Site SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000482035 +1 known NULL 1.000 150 0% 206 29.1% - - unknown(0) - - - RLF 6018 genome.wustl.edu 37 1 40627264 40627264 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012421.3 +1 validated p.V65M 1.000 94 0% 153 32% - - probably_damaging(0.97) tolerated(0.1) deleterious(0.699) NULL ZMPSTE24 10269 genome.wustl.edu 37 1 40747072 40747072 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005857.3 +1 reviewed p.R276Q 1.000 135 0% 87 40.2% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Peptidase_M48 COL9A2 1298 genome.wustl.edu 37 1 40767517 40767517 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001852.3 -1 reviewed p.H613Y 1.000 37 0% 95 30.5% - - probably_damaging(0.987) tolerated(0.44) neutral(0.449) NULL COL9A2 1298 genome.wustl.edu 37 1 40769625 40769625 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001852.3 -1 reviewed p.G448V 1.000 16 0% 49 40.8% - - unknown(0) - - HMMPfam_Collagen KCNQ4 9132 genome.wustl.edu 37 1 41300693 41300693 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000509682 +1 known p.R422* 0.990 36 0% 59 37.3% - - - - - HMMPfam_KCNQ_channel HIVEP3 59269 genome.wustl.edu 37 1 42045804 42045804 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024503.3 -1 validated p.D1555E 0.945 96 1% 70 12.9% - - possibly_damaging(0.945) tolerated(0.48) neutral(0.400) NULL HIVEP3 59269 genome.wustl.edu 37 1 42047866 42047866 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024503.3 -1 validated p.D868G 1.000 76 0% 81 24.7% - - probably_damaging(0.955) deleterious(0.03) deleterious(0.763) NULL GUCA2B 2981 genome.wustl.edu 37 1 42620359 42620359 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007102.2 +1 validated p.G33 1.000 18 0% 37 40.5% - - - - - HMMPfam_Guanylin,superfamily_Guanylin GUCA2B 2981 genome.wustl.edu 37 1 42621244 42621244 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007102.2 +1 validated p.V106I 0.030 67 0% 83 44.6% - - benign(0.185) tolerated(0.3) neutral(0.045) HMMPfam_Guanylin,superfamily_Guanylin FOXJ3 22887 genome.wustl.edu 37 1 42647693 42647693 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014947.3 -1 validated p.N550H 1.000 131 0% 154 33.8% - - probably_damaging(0.965) deleterious(0.05) deleterious(0.752) NULL FOXJ3 22887 genome.wustl.edu 37 1 42664774 42664774 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014947.3 -1 validated p.P253L 1.000 133 0% 34 14.7% - - possibly_damaging(0.69) tolerated(0.07) deleterious(0.566) NULL ZMYND12 84217 genome.wustl.edu 37 1 42915659 42915659 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032257.4 -1 validated p.R61H 1.000 84 0% 67 29.9% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL CCDC30 728621 genome.wustl.edu 37 1 43011123 43011123 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080850.2 +1 validated p.T100A 0.624 79 0% 66 27.3% - - benign(0.001) tolerated(0.19) neutral(0.050) NULL CLDN19 149461 genome.wustl.edu 37 1 43205555 43205555 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_148960.2 -1 reviewed p.G60 0.161 20 0% 33 30.3% - - - - - HMMPfam_PMP22_Claudin,PatternScan_CLAUDIN CLDN19 149461 genome.wustl.edu 37 1 43205585 43205585 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_148960.2 -1 reviewed p.L50 1.000 17 0% 42 45.2% - - - - - HMMPfam_PMP22_Claudin,PatternScan_CLAUDIN LEPRE1 64175 genome.wustl.edu 37 1 43221254 43221254 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022356.3 -1 reviewed p.A379T 1.000 113 0% 155 39.4% - - possibly_damaging(0.527) deleterious(0.01) deleterious(0.584) NULL C1orf50 79078 genome.wustl.edu 37 1 43240481 43240481 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024097.2 +1 predicted p.I119S 1.000 135 0% 134 32.1% - - possibly_damaging(0.914) deleterious(0) deleterious(0.810) HMMPfam_DUF2452 ZNF691 51058 genome.wustl.edu 37 1 43317424 43317424 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015911.2 +1 provisional p.S265 0.321 27 0% 35 37.1% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 TIE1 7075 genome.wustl.edu 37 1 43775103 43775103 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005424.2 +1 provisional p.F411 0.783 132 0% 254 37.8% - - - - - HMMPfam_ig,superfamily_SSF48726 CDC20 991 genome.wustl.edu 37 1 43826244 43826244 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001255.2 +1 reviewed p.W276* 1.000 145 0% 321 36.8% - - - - - HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 PTPRF 5792 genome.wustl.edu 37 1 44058142 44058142 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000414879 +1 known p.R86* 1.000 71 0% 143 32.2% - - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PTPRF 5792 genome.wustl.edu 37 1 44069680 44069680 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002840.3 +1 reviewed p.V953M 0.893 33 0% 68 42.6% - - possibly_damaging(0.932) tolerated(0.16) neutral(0.438) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PTPRF 5792 genome.wustl.edu 37 1 44071037 44071037 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000429895 +1 known p.R750H 0.000 24 0% 65 32.3% - - - - - superfamily_Fibronectin type III PTPRF 5792 genome.wustl.edu 37 1 44072576 44072576 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002840.3 +1 reviewed p.T1265M 1.000 55 0% 91 36.3% - - benign(0.001) tolerated(0.07) neutral(0.319) NULL KDM4A 9682 genome.wustl.edu 37 1 44154669 44154669 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014663.2 +1 reviewed p.R647Q 1.000 54 0% 41 36.6% - - probably_damaging(0.994) tolerated(0.08) deleterious(0.752) NULL ST3GAL3 6487 genome.wustl.edu 37 1 44386553 44386553 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_174963.2 +1 reviewed p.A400T 1.000 63 0% 45 42.2% - - possibly_damaging(0.506) tolerated(0.22) neutral(0.212) HMMPfam_Glyco_transf_29 IPO13 9670 genome.wustl.edu 37 1 44433277 44433277 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014652.3 +1 reviewed p.R939W 1.000 57 0% 102 36.3% - - possibly_damaging(0.459) deleterious(0.01) deleterious(0.556) NULL DPH2 1802 genome.wustl.edu 37 1 44438205 44438205 + Silent SNP C C T rs185345056 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001384.4 +1 reviewed p.S488 0.144 92 0% 115 41.7% - - - - - NULL ATP6V0B 533 genome.wustl.edu 37 1 44442487 44442487 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004047.3 +1 reviewed p.Y131H 1.000 68 0% 110 26.4% - - benign(0.002) tolerated(0.25) neutral(0.037) superfamily_F1F0 ATP synthase subunit C B4GALT2 8704 genome.wustl.edu 37 1 44447522 44447522 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005417.1 +1 reviewed p.R159C 0.999 36 0% 66 25.8% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Galactosyl_T_2,superfamily_Nucleotide-diphospho-sugar transferases CCDC24 149473 genome.wustl.edu 37 1 44461614 44461614 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152499.1 +1 provisional p.R236W 0.001 24 0% 69 34.8% - - benign(0) deleterious(0.01) neutral(0.406) NULL ERI3 79033 genome.wustl.edu 37 1 44818545 44818545 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024066.1 -1 validated p.L63P 1.000 119 0% 196 33.2% - - unknown(0) deleterious(0) - NULL RNF220 55182 genome.wustl.edu 37 1 45079902 45079902 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018150.2 +1 validated p.L231M 1.000 44 0% 84 36.9% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL KIF2C 11004 genome.wustl.edu 37 1 45221637 45221637 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006845.3 +1 validated p.R266C 1.000 86 1.2% 114 35.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases PLK3 1263 genome.wustl.edu 37 1 45271310 45271310 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004073.2 +1 validated p.R634L 0.215 32 0% 99 43.4% - - unknown(0) tolerated(0.07) - HMMPfam_POLO_box,superfamily_Polo-box domain BTBD19 149478 genome.wustl.edu 37 1 45274551 45274551 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001136537.1 +1 provisional p.R20Q 0.991 83 0% 139 35.3% - - possibly_damaging(0.676) tolerated(0.44) neutral(0.253) superfamily_POZ domain,HMMPfam_BTB EIF2B3 8891 genome.wustl.edu 37 1 45341352 45341352 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020365.3 -1 reviewed p.S331P 0.964 165 0% 249 39.8% - - benign(0) tolerated(0.33) neutral(0.024) superfamily_Nucleotide-diphospho-sugar transferases TESK2 10420 genome.wustl.edu 37 1 45887508 45887508 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007170.2 -1 reviewed p.R78Q 1.000 202 0% 106 39.6% - - probably_damaging(0.976) deleterious(0.01) deleterious(0.824) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase NASP 4678 genome.wustl.edu 37 1 46072179 46072179 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_172164.1 +1 reviewed p.A111T 1.000 269 0% 109 25.7% - - possibly_damaging(0.8) deleterious(0.02) deleterious(0.684) superfamily_SSF48452 LRRC41 10489 genome.wustl.edu 37 1 46746986 46746986 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006369.4 -1 validated p.R523C 1.000 38 0% 43 46.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_RNI-like CYP4B1 1580 genome.wustl.edu 37 1 47276555 47276555 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001099772.1 +1 reviewed p.G86R 0.994 88 0% 54 24.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_p450,superfamily_Cytochrome_P450 CYP4A11 1579 genome.wustl.edu 37 1 47402352 47402352 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000778.3 -1 reviewed p.S165Y 0.900 49 0% 31 12.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_p450,superfamily_Cytochrome P450 CYP4X1 260293 genome.wustl.edu 37 1 47505098 47505098 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178033.1 +1 reviewed p.A323T 0.807 69 0% 18 44.4% - - benign(0.012) deleterious(0) neutral(0.445) HMMPfam_p450,superfamily_Cytochrome P450 CYP4Z1 199974 genome.wustl.edu 37 1 47583466 47583466 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178134.2 +1 reviewed p.I460L 0.085 70 0% 17 47.1% - - benign(0) tolerated(0.4) neutral(0.016) HMMPfam_p450,superfamily_Cytochrome_P450 CYP4A22 284541 genome.wustl.edu 37 1 47614435 47614435 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001010969.2 +1 reviewed p.L509P 0.057 85 0% 61 32.8% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SLC5A9 200010 genome.wustl.edu 37 1 48695018 48695018 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001135181.1 +1 validated p.A156T 0.998 152 0% 115 35.7% - - benign(0.369) tolerated(0.23) neutral(0.159) HMMPfam_SSF SLC5A9 200010 genome.wustl.edu 37 1 48713023 48713023 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001135181.1 +1 validated p.W643* 0.029 89 0% 30 13.3% - - - - - NULL AGBL4 84871 genome.wustl.edu 37 1 49100185 49100185 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032785.3 -1 validated p.V311I 0.936 135 0% 66 39.4% - - benign(0.301) tolerated(0.74) neutral(0.095) HMMPfam_Peptidase_M14,HMMSmart_SM00631,superfamily_Zn-dependent exopeptidases TTC39A 22996 genome.wustl.edu 37 1 51755769 51755769 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001144832.1 -1 validated p.D471 0.991 82 0% 83 9.6% - - - - - HMMPfam_Deme6,superfamily_SSF48452 OSBPL9 114883 genome.wustl.edu 37 1 52237825 52237825 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_148909.1 +1 reviewed p.S351Y 1.000 179 0% 106 42.5% - - probably_damaging(0.994) deleterious(0.04) deleterious(0.801) HMMPfam_Oxysterol_BP GPX7 2882 genome.wustl.edu 37 1 53072457 53072457 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015696.4 +1 validated p.N80 0.208 56 0% 86 27.9% - - - - - HMMPfam_GSHPx,superfamily_Thiordxn-like_fd PODN 127435 genome.wustl.edu 37 1 53542934 53542934 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153703.3 +1 validated p.N266 0.614 24 0% 70 35.7% - - - - - superfamily_SSF52058 LRP8 7804 genome.wustl.edu 37 1 53716457 53716457 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004631.3 -1 reviewed p.F861V 1.000 408 0% 172 34.3% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL LRP8 7804 genome.wustl.edu 37 1 53732282 53732282 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004631.3 -1 reviewed p.H430 0.032 120 0% 113 44.2% - - - - - superfamily_YWTD domain DIO1 1733 genome.wustl.edu 37 1 54360005 54360005 + Missense_Mutation SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001039715.1 +1 reviewed p.I41N 0.986 211 0% 199 17.1% - - probably_damaging(0.956) deleterious(0) deleterious(0.844) HMMPfam_T4_deiodinase LDLRAD1 388633 genome.wustl.edu 37 1 54474768 54474768 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001010978.2 -1 provisional p.R169C 0.841 19 0% 45 37.8% - - possibly_damaging(0.511) deleterious(0.01) deleterious(0.577) HMMSmart_SM00192,superfamily_LDL receptor-like module CDCP2 200008 genome.wustl.edu 37 1 54607054 54607054 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_201546.2 -1 provisional p.E160D 0.976 47 0% 63 30.2% - - benign(0.002) tolerated(0.43) neutral(0.013) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain HEATR8 374977 genome.wustl.edu 37 1 55139413 55139413 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001039464.2 +1 validated p.R579* 0.978 100 0% 113 43.4% - - - - - superfamily_ARM repeat HEATR8 374977 genome.wustl.edu 37 1 55166045 55166045 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001039464.2 +1 validated p.R1006W 0.999 14 0% 26 30.8% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_ARM repeat DHCR24 1718 genome.wustl.edu 37 1 55349398 55349398 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014762.3 -1 reviewed p.R94C 1.000 150 0% 223 10.3% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_FAD-binding_2 TMEM61 199964 genome.wustl.edu 37 1 55457569 55457569 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182532.1 +1 provisional p.E142D 0.006 28 0% 42 35.7% - - benign(0.146) - - NULL PCSK9 255738 genome.wustl.edu 37 1 55521671 55521671 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_174936.2 +1 reviewed p.E269* 1.000 20 0% 49 36.7% - - - - - HMMPfam_Peptidase_S8,superfamily_Subtilisin-like PPAP2B 8613 genome.wustl.edu 37 1 57002743 57002743 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003713.3 -1 reviewed p.P61S 1.000 146 0% 44 40.9% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) superfamily_Acid phosphatase/Vanadium-dependent haloperoxidase PRKAA2 5563 genome.wustl.edu 37 1 57157066 57157066 + Splice_Site SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006252.3 +1 validated e3-1 1.000 140 0.7% 66 28.8% - - - - - - PRKAA2 5563 genome.wustl.edu 37 1 57169668 57169668 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006252.3 +1 validated p.D271 0.996 151 0% 73 34.2% - - - - - superfamily_Kinase_like DAB1 1600 genome.wustl.edu 37 1 57536735 57536735 + Splice_Site SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021080.3 -1 reviewed e6-1 1.000 118 0% 32 43.8% - - - - - - OMA1 115209 genome.wustl.edu 37 1 59004545 59004545 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_145243.3 -1 provisional p.R141Q 0.000 124 0% 69 46.4% - - benign(0.034) tolerated(0.21) neutral(0.046) NULL MYSM1 114803 genome.wustl.edu 37 1 59131183 59131183 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001085487.1 -1 provisional p.D718N 1.000 165 0% 35 37.1% - - benign(0.424) tolerated(0.14) neutral(0.387) NULL CYP2J2 1573 genome.wustl.edu 37 1 60381651 60381651 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000775.2 -1 reviewed p.R111H 1.000 154 0% 77 31.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_p450,superfamily_Cytochrome_P450 L1TD1 54596 genome.wustl.edu 37 1 62672877 62672877 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_019079.4 +1 validated p.E193* 0.068 80 0% 58 37.9% - - - - - NULL L1TD1 54596 genome.wustl.edu 37 1 62676006 62676006 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_019079.4 +1 validated p.K520N 0.000 50 0% 35 45.7% - - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL USP1 7398 genome.wustl.edu 37 1 62916468 62916468 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001017415.1 +1 reviewed p.N725T 0.000 144 0% 88 31.8% - - benign(0.025) tolerated(0.69) neutral(0.003) HMMPfam_UCH,superfamily_SSF54001 DOCK7 85440 genome.wustl.edu 37 1 62993828 62993828 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000454575 -1 known p.V482I 0.004 116 0% 44 31.8% - - - - - NULL DOCK7 85440 genome.wustl.edu 37 1 63044524 63044524 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033407.2 -1 validated p.P662H 1.000 151 0% 66 19.7% - - possibly_damaging(0.658) deleterious(0.02) deleterious(0.616) NULL ANGPTL3 27329 genome.wustl.edu 37 1 63064414 63064414 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014495.2 +1 reviewed p.T181 0.003 252 0% 69 23.2% - - - - - NULL ATG4C 84938 genome.wustl.edu 37 1 63284686 63284686 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032852.2 +1 reviewed p.W135* 1.000 74 0% 24 37.5% - - - - - HMMPfam_Peptidase_C54 ATG4C 84938 genome.wustl.edu 37 1 63300467 63300467 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032852.2 +1 reviewed p.D345N 1.000 325 0% 76 9.2% - - probably_damaging(0.975) deleterious(0) deleterious(0.861) HMMPfam_Peptidase_C54 PGM1 5236 genome.wustl.edu 37 1 64125315 64125315 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002633.2 +1 reviewed p.T553M 1.000 135 0% 54 13% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Phosphoglucomutase C-terminal domain LEPR 3953 genome.wustl.edu 37 1 66067580 66067580 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002303.4 +1 reviewed p.C447Y 1.000 99 0% 31 22.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Fibronectin type III LEPR 3953 genome.wustl.edu 37 1 66081870 66081870 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002303.4 +1 reviewed p.A725 0.005 231 0% 137 28.5% - - - - - PatternScan_HEMATOPO_REC_L_F2,superfamily_Fibronectin type III LEPR 3953 genome.wustl.edu 37 1 66088599 66088599 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002303.4 +1 reviewed p.L870 0.998 223 0% 63 25.4% - - - - - NULL SGIP1 84251 genome.wustl.edu 37 1 67206389 67206389 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032291.2 +1 validated p.Q761H 1.000 77 0% 77 40.3% - - benign(0.156) tolerated(0.06) neutral(0.337) NULL INSL5 10022 genome.wustl.edu 37 1 67263758 67263758 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005478.3 -1 reviewed p.D116N 0.000 74 0% 19 42.1% - - benign(0.415) deleterious(0.02) deleterious(0.518) HMMSmart_IlGF,superfamily_Insulin-like INSL5 10022 genome.wustl.edu 37 1 67266848 67266848 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005478.3 -1 reviewed p.E19D 0.008 130 0% 32 37.5% - - probably_damaging(0.992) deleterious(0) deleterious(0.892) superfamily_Insulin-like WDR78 79819 genome.wustl.edu 37 1 67292588 67292588 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024763.4 -1 validated p.D752N 1.000 92 0% 76 26.3% - - probably_damaging(1) deleterious(0.05) deleterious(0.845) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 WDR78 79819 genome.wustl.edu 37 1 67299384 67299384 + Missense_Mutation SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024763.4 -1 validated p.M633L 1.000 290 0% 142 32.4% - - probably_damaging(0.961) tolerated(0.15) deleterious(0.645) superfamily_WD40 repeat-like WDR78 79819 genome.wustl.edu 37 1 67301358 67301358 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024763.4 -1 validated p.A562T 0.096 104 0% 36 11.1% - - possibly_damaging(0.599) deleterious(0.04) deleterious(0.556) HMMSmart_SM00320,superfamily_WD40 repeat-like WDR78 79819 genome.wustl.edu 37 1 67306345 67306345 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024763.4 -1 validated p.P434L 0.998 215 0% 47 29.8% - - benign(0.157) tolerated(0.21) neutral(0.058) superfamily_WD40 repeat-like MIER1 57708 genome.wustl.edu 37 1 67436528 67436528 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020948.3 +1 validated p.E241D 0.338 97 0% 42 42.9% - - benign(0) tolerated(0.63) neutral(0.004) HMMPfam_ELM2 RPE65 6121 genome.wustl.edu 37 1 68896749 68896749 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000329.2 -1 reviewed p.D483 0.998 79 0% 22 45.5% - - - - - HMMPfam_RPE65 RPE65 6121 genome.wustl.edu 37 1 68905294 68905294 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000329.2 -1 reviewed p.I225 0.999 263 0% 95 31.6% - - - - - HMMPfam_RPE65 LRRC7 57554 genome.wustl.edu 37 1 70504275 70504275 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020794.2 +1 validated p.P885H 0.959 54 0% 28 21.4% - - benign(0.11) deleterious(0) neutral(0.453) NULL C1orf173 127254 genome.wustl.edu 37 1 75038491 75038491 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001002912.4 -1 validated p.D968G 0.000 214 0% 93 34.4% - - benign(0.002) tolerated(0.79) neutral(0.001) NULL SLC44A5 204962 genome.wustl.edu 37 1 75685026 75685026 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152697.4 -1 validated p.F394L 0.997 124 0% 37 45.9% - - possibly_damaging(0.649) deleterious(0.01) deleterious(0.634) HMMPfam_DUF580 ACADM 34 genome.wustl.edu 37 1 76194134 76194134 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001127328.1 +1 reviewed p.A31S 0.646 222 0% 205 37.1% - - benign(0) tolerated(0.42) neutral(0.014) NULL MSH4 4438 genome.wustl.edu 37 1 76345749 76345749 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002440.2 +1 validated p.K564N 1.000 142 0% 21 38.1% - - possibly_damaging(0.898) deleterious(0.03) deleterious(0.719) HMMPfam_MutS_III,HMMSmart_MUTSd,superfamily_DNA_repair_MutS_domIII,HMMPfam_MutS_IV MSH4 4438 genome.wustl.edu 37 1 76355043 76355043 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002440.2 +1 validated p.E739* 1.000 59 0% 28 28.6% - - - - - HMMPfam_MutS_V,HMMSmart_MUTSac,superfamily_SSF52540 ST6GALNAC3 256435 genome.wustl.edu 37 1 77094402 77094402 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152996.2 +1 validated p.H277N 1.000 142 0% 37 51.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_transf_29 PIGK 10026 genome.wustl.edu 37 1 77632504 77632504 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005482.2 -1 reviewed p.E129D 1.000 37 0% 18 50% - - possibly_damaging(0.933) deleterious(0.05) deleterious(0.724) HMMPfam_Peptidase_C13 AK5 26289 genome.wustl.edu 37 1 78024325 78024325 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_174858.1 +1 reviewed p.Q553 0.552 179 0% 83 34.9% - - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases ZZZ3 26009 genome.wustl.edu 37 1 78031418 78031418 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015534.4 -1 provisional p.Y873 1.000 212 0% 70 51.4% - - - - - NULL ZZZ3 26009 genome.wustl.edu 37 1 78044498 78044498 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015534.4 -1 provisional p.V713 1.000 226 0% 97 21.6% - - - - - superfamily_Homeodomain-like FUBP1 8880 genome.wustl.edu 37 1 78433329 78433329 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003902.3 -1 reviewed p.P91L 0.998 155 0% 55 43.6% - - benign(0.081) deleterious(0.05) neutral(0.351) superfamily_Eukaryotic type KH-domain (KH-domain type I) LPHN2 23266 genome.wustl.edu 37 1 82409180 82409180 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012302.2 +1 reviewed p.R309C 1.000 136 0% 29 37.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_OLF,HMMSmart_SM00284 TTLL7 79739 genome.wustl.edu 37 1 84394907 84394907 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024686.4 -1 validated p.R352 1.000 186 0% 28 25% - - - - - HMMPfam_TTL,superfamily_Glutathione synthetase ATP-binding domain-like MCOLN3 55283 genome.wustl.edu 37 1 85484930 85484930 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018298.9 -1 validated p.Q513R 1.000 143 0% 51 29.4% - - benign(0.007) tolerated(0.44) neutral(0.013) NULL MCOLN3 55283 genome.wustl.edu 37 1 85510989 85510989 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018298.9 -1 validated p.R19C 0.000 76 0% 106 38.7% - - benign(0.005) tolerated(0.1) neutral(0.286) NULL WDR63 126820 genome.wustl.edu 37 1 85592391 85592391 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_145172.3 +1 validated p.I770 0.017 79 0% 24 45.8% - - - - - superfamily_WD40 repeat-like CLCA2 9635 genome.wustl.edu 37 1 86905887 86905887 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006536.5 +1 reviewed p.S420 0.868 125 0% 46 32.6% - - - - - HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300 CLCA1 1179 genome.wustl.edu 37 1 86959988 86959988 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001285.3 +1 reviewed p.D600G 1.000 158 0% 60 36.7% - - possibly_damaging(0.898) tolerated(0.15) deleterious(0.595) HMMPfam_DUF1973 CLCA4 22802 genome.wustl.edu 37 1 87025701 87025701 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012128.3 +1 reviewed p.E82D 0.000 101 0% 73 24.7% - - benign(0.002) tolerated(0.57) neutral(0.006) HMMPfam_CLCA_N CLCA4 22802 genome.wustl.edu 37 1 87041098 87041098 + Silent SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012128.3 +1 reviewed p.S589 0.359 115 0% 23 39.1% - - - - - HMMPfam_DUF1973 PKN2 5586 genome.wustl.edu 37 1 89237518 89237518 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006256.2 +1 validated p.T314M 1.000 39 0% 45 28.9% - - possibly_damaging(0.92) tolerated(0.15) deleterious(0.612) NULL PKN2 5586 genome.wustl.edu 37 1 89273051 89273051 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006256.2 +1 validated p.S620F 0.781 127 0% 37 32.4% - - benign(0.007) tolerated(0.06) neutral(0.323) NULL GTF2B 2959 genome.wustl.edu 37 1 89353033 89353033 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001514.5 -1 reviewed p.R12I 1.000 216 0% 187 42.2% - - benign(0.077) deleterious(0.02) neutral(0.389) superfamily_Zinc beta-ribbon GBP2 2634 genome.wustl.edu 37 1 89587507 89587507 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004120.3 -1 reviewed p.R48H 0.953 298 0% 186 30.6% - - possibly_damaging(0.947) deleterious(0.04) deleterious(0.740) HMMPfam_GBP,superfamily_SSF52540 GBP7 388646 genome.wustl.edu 37 1 89637449 89637449 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_207398.2 -1 validated p.K57T 0.767 282 0% 65 36.9% - - possibly_damaging(0.926) deleterious(0.01) deleterious(0.780) HMMPfam_GBP,superfamily_P-loop containing nucleoside triphosphate hydrolases LRRC8D 55144 genome.wustl.edu 37 1 90398628 90398628 + Missense_Mutation SNP A A T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001134479.1 +1 validated p.M1L 1.000 155 0% 87 35.6% - - probably_damaging(0.983) deleterious(0) deleterious(0.873) NULL LRRC8D 55144 genome.wustl.edu 37 1 90400677 90400677 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001134479.1 +1 validated p.R684* 1.000 89 0% 34 47.1% - - - - - superfamily_SSF52058 ZNF326 284695 genome.wustl.edu 37 1 90470701 90470701 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182976.2 +1 validated p.R36H 1.000 227 0% 94 41.5% - - possibly_damaging(0.924) deleterious(0.03) deleterious(0.738) NULL ZNF326 284695 genome.wustl.edu 37 1 90478723 90478723 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182976.2 +1 validated p.R285* 0.973 117 0% 53 24.5% - - - - - NULL BARHL2 343472 genome.wustl.edu 37 1 91178005 91178005 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020063.1 -1 validated p.R343Q 1.000 27 0% 48 43.8% - - probably_damaging(0.988) deleterious(0.03) deleterious(0.802) NULL ZNF644 84146 genome.wustl.edu 37 1 91404654 91404654 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_201269.1 -1 validated p.S753A 1.000 158 0% 46 37% - - benign(0.067) deleterious(0.04) neutral(0.353) NULL HFM1 164045 genome.wustl.edu 37 1 91788537 91788537 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000430465 -1 known p.E107* 0.983 74 0% 20 30% - - possibly_damaging(0.862) tolerated(0.1) deleterious(0.619) HMMPfam_Sec63 CDC7 8317 genome.wustl.edu 37 1 91978766 91978766 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001134419.1 +1 reviewed p.V242I 0.993 118 0% 34 44.1% - - benign(0) tolerated(0.1) neutral(0.286) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase BRDT 676 genome.wustl.edu 37 1 92446207 92446207 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001726.3 +1 validated p.A432V 1.000 44 0% 30 33.3% - - possibly_damaging(0.922) deleterious(0.03) deleterious(0.736) NULL BTBD8 284697 genome.wustl.edu 37 1 92554375 92554375 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_183242.3 +1 validated p.Q90H 0.028 193 0% 112 32.1% - - benign(0) tolerated(0.71) neutral(0.002) HMMSmart_SM00225,superfamily_POZ domain KIAA1107 23285 genome.wustl.edu 37 1 92633485 92633485 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015237.2 +1 validated p.S24 0.913 232 0% 140 12.9% - - - - - NULL GLMN 11146 genome.wustl.edu 37 1 92754610 92754610 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_053274.2 -1 reviewed p.Q165* 1.000 162 0% 73 34.2% - - - - - HMMPfam_FKBP12 EVI5 7813 genome.wustl.edu 37 1 93160917 93160917 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005665.4 -1 validated p.T331P 1.000 138 0% 53 17% - - possibly_damaging(0.768) deleterious(0.05) deleterious(0.630) HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p EVI5 7813 genome.wustl.edu 37 1 93201992 93201992 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005665.4 -1 validated p.D82N 1.000 410 0% 152 32.9% - - possibly_damaging(0.614) tolerated(0.11) deleterious(0.485) NULL FAM69A 388650 genome.wustl.edu 37 1 93312917 93312917 + Splice_Site SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001006605.3 -1 reviewed e4-1 1.000 87 0% 53 47.2% - - - - - - MTF2 22823 genome.wustl.edu 37 1 93583972 93583972 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007358.3 +1 validated p.Q235K 1.000 119 0% 60 35% - - possibly_damaging(0.46) tolerated(0.2) neutral(0.200) HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger,PatternScan_ZF_PHD_1,HMMPfam_PHD CCDC18 343099 genome.wustl.edu 37 1 93677754 93677754 + Silent SNP C C T rs183557342 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000421014 +1 known p.A223V 0.001 94 0% 42 47.6% - - - - - NULL BCAR3 8412 genome.wustl.edu 37 1 94140445 94140445 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003567.2 -1 reviewed p.P14 0.000 36 0% 36 36.1% - - - - - NULL ABCA4 24 genome.wustl.edu 37 1 94490534 94490534 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000350.2 -1 reviewed p.T1537M 1.000 96 0% 78 41% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ABCA4 24 genome.wustl.edu 37 1 94528193 94528193 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000350.2 -1 reviewed p.A626V 0.000 56 0% 37 29.7% - - benign(0) tolerated(0.34) neutral(0.023) NULL PALMD 54873 genome.wustl.edu 37 1 100152678 100152678 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017734.4 +1 validated p.S149 1.000 161 0% 47 27.7% - - - - - NULL FRRS1 391059 genome.wustl.edu 37 1 100174669 100174669 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001013660.2 -1 validated p.L556F 0.993 103 0% 47 42.6% - - benign(0) tolerated(0.8) neutral(0.001) NULL AGL 178 genome.wustl.edu 37 1 100329984 100329984 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000028.2 +1 reviewed p.L168P 0.897 304 0.3% 249 42.6% - - possibly_damaging(0.928) tolerated(0.38) neutral(0.393) superfamily_(Trans)glycosidases HIAT1 64645 genome.wustl.edu 37 1 100547610 100547610 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033055.2 +1 validated p.L440M 1.000 164 0% 58 46.6% - - benign(0.057) tolerated(0.18) neutral(0.060) superfamily_MFS_gen_substrate_transporter RTCD1 8634 genome.wustl.edu 37 1 100752731 100752731 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001130841.1 +1 validated p.A337V 0.996 153 0% 81 42% - - probably_damaging(0.975) deleterious(0) deleterious(0.861) HMMPfam_RTC,superfamily_EPT/RTPC-like CDC14A 8556 genome.wustl.edu 37 1 100964688 100964688 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033312.2 +1 reviewed p.S542N 0.924 158 0% 103 38.8% - - possibly_damaging(0.667) deleterious(0.04) deleterious(0.585) NULL COL11A1 1301 genome.wustl.edu 37 1 103387102 103387102 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_080629.2 -1 reviewed p.R1239I 1.000 76 0% 62 29% - - unknown(0) deleterious(0.01) - NULL COL11A1 1301 genome.wustl.edu 37 1 103491503 103491503 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_080629.2 -1 reviewed p.K262N 1.000 320 0% 149 22.1% - - benign(0.006) tolerated(0.44) neutral(0.013) NULL COL11A1 1301 genome.wustl.edu 37 1 103540264 103540264 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_080629.2 -1 reviewed p.T187 1.000 341 0% 67 28.4% - - - - - HMMSmart_LamG,HMMSmart_TSPN,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 AMY2B 280 genome.wustl.edu 37 1 104118162 104118162 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020978.3 +1 reviewed p.N367 1.000 308 0% 88 40.9% - - - - - HMMPfam_Alpha-amylase,HMMSmart_SM00642,superfamily_(Trans)glycosidases VAV3 10451 genome.wustl.edu 37 1 108145688 108145688 + Missense_Mutation SNP C C T rs151104546 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006113.4 -1 reviewed p.E705K 1.000 198 0% 62 58.1% - - benign(0.247) tolerated(0.16) neutral(0.084) HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain VAV3 10451 genome.wustl.edu 37 1 108231050 108231050 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001079874.1 -1 reviewed p.P2S 1.000 294 0% 81 25.9% - - unknown(0) - - NULL VAV3 10451 genome.wustl.edu 37 1 108322068 108322068 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006113.4 -1 reviewed p.A123V 1.000 130 0% 61 13.1% - - benign(0.01) tolerated(0.28) neutral(0.032) superfamily_Calponin-homology domain CH-domain SLC25A24 29957 genome.wustl.edu 37 1 108686212 108686212 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013386.3 -1 validated p.L351V 0.007 112 0% 49 42.9% - - benign(0.002) tolerated(0.11) neutral(0.272) superfamily_Mitochondrial carrier,HMMPfam_Mito_carr HENMT1 113802 genome.wustl.edu 37 1 109191326 109191326 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001102592.1 -1 validated p.A348 0.223 116 0% 73 34.2% - - - - - NULL PRPF38B 55119 genome.wustl.edu 37 1 109241410 109241410 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018061.2 +1 validated p.A248D 0.000 118 0% 84 28.6% - - possibly_damaging(0.662) tolerated(0.51) neutral(0.243) NULL FNDC7 163479 genome.wustl.edu 37 1 109271412 109271412 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001144937.1 +1 provisional p.R510W 0.000 60 0% 42 45.2% - - benign(0) tolerated(0.19) neutral(0.050) HMMSmart_SM00060,superfamily_Fibronectin type III GPSM2 29899 genome.wustl.edu 37 1 109439494 109439494 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013296.4 +1 validated p.A22V 1.000 232 0% 79 35.4% - - benign(0.33) tolerated(0.2) neutral(0.152) superfamily_SSF48452 C1orf194 127003 genome.wustl.edu 37 1 109650569 109650569 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001122961.1 -1 validated p.R46W 0.271 158 0.6% 217 11.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL KIAA1324 57535 genome.wustl.edu 37 1 109656916 109656916 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020775.3 +1 validated p.Q37 1.000 23 0% 28 46.4% - - - - - NULL GNAI3 2773 genome.wustl.edu 37 1 110128884 110128884 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006496.2 +1 validated p.H213N 1.000 217 0% 96 33.3% - - possibly_damaging(0.949) deleterious(0.03) deleterious(0.758) HMMPfam_G-alpha,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases RNU6V 6071 genome.wustl.edu 37 1 110134233 110134233 + RNA SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000384105 -1 known NULL 0.009 169 0% 99 47.5% - - - - - - AMPD2 271 genome.wustl.edu 37 1 110168974 110168974 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004037.6 +1 validated p.D206E 1.000 50 0% 107 35.5% - - benign(0) tolerated(1) - NULL GSTM3 2947 genome.wustl.edu 37 1 110280934 110280934 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000849.4 -1 reviewed p.R82C 1.000 243 0% 292 36% - - possibly_damaging(0.897) deleterious(0.01) deleterious(0.760) HMMPfam_GST_N,superfamily_Thioredoxin-like FAM40A 85369 genome.wustl.edu 37 1 110581331 110581331 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033088.2 +1 validated p.E93* 1.000 190 0% 183 42.1% - - - - - HMMPfam_N1221 FAM40A 85369 genome.wustl.edu 37 1 110589357 110589357 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033088.2 +1 validated p.R491H 1.000 60 1.7% 56 25% - - possibly_damaging(0.742) deleterious(0.02) deleterious(0.655) NULL ALX3 257 genome.wustl.edu 37 1 110604106 110604106 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006492.2 -1 reviewed p.T225M 0.993 69 0% 84 41.7% - - possibly_damaging(0.782) deleterious(0.04) deleterious(0.642) NULL KCNC4 3749 genome.wustl.edu 37 1 110766393 110766393 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004978.3 +1 reviewed p.V496M 0.998 72 0% 116 32.8% - - benign(0.27) deleterious(0.02) neutral(0.412) NULL DENND2D 79961 genome.wustl.edu 37 1 111739856 111739856 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024901.3 -1 provisional p.R149H 1.000 60 0% 68 36.8% - - benign(0.335) deleterious(0.04) neutral(0.454) HMMPfam_DENN,HMMSmart_SM00799 CHIA 27159 genome.wustl.edu 37 1 111863055 111863055 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000430615 +1 known p.S396L 0.201 36 0% 27 44.4% - - - - - HMMPfam_CBM_14,HMMSmart_SM00494,superfamily_Invertebrate chitin-binding proteins C1orf88 128344 genome.wustl.edu 37 1 111891328 111891328 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000452858 +1 known p.T150M 0.049 101 0% 112 46.4% - - - - - NULL ATP5F1 515 genome.wustl.edu 37 1 112002191 112002191 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001688.4 +1 reviewed p.R209Q 0.912 75 0% 28 25% - - benign(0.304) tolerated(0.06) neutral(0.417) HMMPfam_Mt_ATP-synt_B ADORA3 140 genome.wustl.edu 37 1 112029258 112029258 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020683.6 -1 reviewed p.K274N 0.086 141 0.7% 78 43.6% - - possibly_damaging(0.901) deleterious(0.02) deleterious(0.740) HMMPfam_7tm_1 KCND3 3752 genome.wustl.edu 37 1 112319680 112319680 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004980.3 -1 reviewed p.I578 1.000 262 0% 161 35.4% - - - - - NULL WNT2B 7482 genome.wustl.edu 37 1 113057626 113057626 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024494.2 +1 reviewed p.R105 1.000 50 0% 59 45.8% - - - - - HMMPfam_wnt,HMMSmart_SM00097 WNT2B 7482 genome.wustl.edu 37 1 113058999 113058999 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024494.2 +1 reviewed p.R214Q 1.000 112 0.9% 96 35.4% - - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_wnt,HMMSmart_SM00097 CAPZA1 829 genome.wustl.edu 37 1 113212695 113212695 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006135.2 +1 reviewed p.K268E 1.000 78 0% 63 34.9% - - probably_damaging(0.982) deleterious(0) deleterious(0.871) HMMPfam_F-actin_cap_A,superfamily_SSF90096 FAM19A3 284467 genome.wustl.edu 37 1 113266642 113266642 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001004440.1 +1 reviewed p.S114L 0.067 42 0% 63 34.9% - - probably_damaging(0.974) deleterious(0) deleterious(0.861) NULL LRIG2 9860 genome.wustl.edu 37 1 113652925 113652925 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014813.1 +1 provisional p.M513I 0.026 118 0% 44 40.9% - - benign(0.001) tolerated(0.12) neutral(0.261) HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726 MAGI3 260425 genome.wustl.edu 37 1 114128048 114128048 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001142782.1 +1 validated p.S198I 1.000 89 0% 22 22.7% - - possibly_damaging(0.921) deleterious(0.04) deleterious(0.720) HMMSmart_GuKc PHTF1 10745 genome.wustl.edu 37 1 114243505 114243505 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006608.2 -1 validated p.A653S 1.000 142 0% 60 28.3% - - benign(0.079) tolerated(0.79) neutral(0.006) NULL PHTF1 10745 genome.wustl.edu 37 1 114280875 114280875 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006608.2 -1 validated p.K63T 1.000 153 0% 73 43.8% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL BCL2L15 440603 genome.wustl.edu 37 1 114429966 114429966 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001010922.2 -1 validated p.T11M 0.990 313 0% 165 27.9% - - unknown(0) deleterious(0) - NULL AP4B1 10717 genome.wustl.edu 37 1 114442634 114442634 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006594.2 -1 validated p.L336M 1.000 86 0% 74 39.2% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Adaptin_N,superfamily_ARM-type_fold HIPK1 204851 genome.wustl.edu 37 1 114512708 114512708 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198268.1 +1 reviewed p.V968I 0.045 135 0% 91 35.2% - - benign(0) tolerated(0.5) neutral(0.010) NULL DENND2C 163259 genome.wustl.edu 37 1 115128227 115128227 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198459.3 -1 validated p.K870N 1.000 95 0% 55 32.7% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL AMPD1 270 genome.wustl.edu 37 1 115220970 115220970 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000036.2 -1 reviewed p.S359Y 1.000 156 0% 118 34.7% - - probably_damaging(0.974) deleterious(0.01) deleterious(0.822) HMMPfam_A_deaminase,superfamily_SSF51556 AMPD1 270 genome.wustl.edu 37 1 115223080 115223080 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000036.2 -1 reviewed p.K189N 1.000 106 0% 80 43.8% - - benign(0.286) tolerated(0.38) neutral(0.105) NULL NRAS 4893 genome.wustl.edu 37 1 115256486 115256486 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002524.3 -1 reviewed p.G75 1.000 132 0% 124 32.3% - - - - - HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases CSDE1 7812 genome.wustl.edu 37 1 115261332 115261332 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001130523.1 -1 validated p.D766Y 1.000 72 0% 66 31.8% - - probably_damaging(0.992) deleterious(0.01) deleterious(0.853) NULL CSDE1 7812 genome.wustl.edu 37 1 115273209 115273209 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001130523.1 -1 validated p.R386C 1.000 246 0% 110 31.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CSD,HMMSmart_SM00357,superfamily_Nucleic acid-binding proteins,PatternScan_COLD_SHOCK CSDE1 7812 genome.wustl.edu 37 1 115280616 115280616 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001130523.1 -1 validated p.E139* 1.000 418 0% 134 35.8% - - - - - NULL SYCP1 6847 genome.wustl.edu 37 1 115419396 115419396 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003176.2 +1 validated p.E256* 0.997 75 0% 34 20.6% - - - - - HMMPfam_SCP-1 SYCP1 6847 genome.wustl.edu 37 1 115420763 115420763 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003176.2 +1 validated p.D284Y 1.000 69 0% 44 38.6% - - possibly_damaging(0.901) deleterious(0.01) deleterious(0.762) HMMPfam_SCP-1 SYCP1 6847 genome.wustl.edu 37 1 115428750 115428750 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003176.2 +1 validated p.T337N 1.000 100 0% 65 49.2% - - benign(0.395) tolerated(0.41) neutral(0.142) HMMPfam_SCP-1 SYCP1 6847 genome.wustl.edu 37 1 115428861 115428861 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003176.2 +1 validated p.S374* 0.993 116 0% 61 34.4% - - - - - HMMPfam_SCP-1 TSPAN2 10100 genome.wustl.edu 37 1 115593139 115593139 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005725.4 -1 reviewed p.A213V 0.939 161 0% 40 40% - - benign(0.008) deleterious(0) neutral(0.445) HMMPfam_Tetraspannin ATP1A1 476 genome.wustl.edu 37 1 116946553 116946553 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000701.7 +1 reviewed p.V1000A 1.000 235 0% 129 35.7% - - benign(0) tolerated(0.12) neutral(0.261) HMMPfam_Cation_ATPase_C,superfamily_Calcium ATPase transmembrane domain M CD101 9398 genome.wustl.edu 37 1 117552495 117552495 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004258.3 +1 validated p.E23* 0.981 45 0% 18 22.2% - - - - - HMMPfam_V-set CD101 9398 genome.wustl.edu 37 1 117552734 117552734 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004258.3 +1 validated p.N102 0.995 72 0% 33 12.1% - - - - - HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 CD101 9398 genome.wustl.edu 37 1 117556087 117556087 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004258.3 +1 validated p.E301K 0.539 126 0% 49 36.7% - - possibly_damaging(0.767) tolerated(0.09) deleterious(0.581) HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726 MAN1A2 10905 genome.wustl.edu 37 1 118003121 118003121 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006699.3 +1 validated p.R321* 0.990 140 0% 59 39% - - - - - HMMPfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 FAM46C 54855 genome.wustl.edu 37 1 118166015 118166015 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017709.3 +1 validated p.R175 0.015 167 0.6% 83 38.6% - - - - - HMMPfam_DUF1693 SPAG17 200162 genome.wustl.edu 37 1 118530745 118530745 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_206996.2 -1 validated p.F1868L 0.010 102 0% 44 45.5% - - possibly_damaging(0.797) tolerated(0.49) neutral(0.310) NULL SPAG17 200162 genome.wustl.edu 37 1 118644466 118644466 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_206996.2 -1 validated p.P177 0.057 388 0.5% 129 34.1% - - - - - NULL HAO2 51179 genome.wustl.edu 37 1 119925635 119925635 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005783.1 +1 reviewed p.P77S 0.999 76 0% 21 38.1% - - probably_damaging(0.971) deleterious(0.01) deleterious(0.819) HMMPfam_FMN_dh,superfamily_FMN-linked oxidoreductases HSD3B1 3283 genome.wustl.edu 37 1 120050108 120050108 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000862.2 +1 validated p.G3 0.040 227 0% 75 14.7% - - - - - superfamily_NAD(P)-bd HSD3B1 3283 genome.wustl.edu 37 1 120056928 120056928 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000862.2 +1 validated p.P261L 1.000 106 0% 47 46.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_3Beta_HSD,superfamily_NAD(P)-bd PHGDH 26227 genome.wustl.edu 37 1 120286531 120286531 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006623.3 +1 reviewed p.V490 0.917 43 0% 49 40.8% - - - - - NULL NBPF7 343505 genome.wustl.edu 37 1 120386977 120386977 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001047980.1 -1 predicted p.K61T 0.003 214 0% 117 32.5% - - - - - NULL ADAM30 11085 genome.wustl.edu 37 1 120437439 120437439 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021794.2 -1 reviewed p.C507 0.453 66 0% 63 39.7% - - - - - HMMPfam_ADAM_CR,HMMSmart_SM00608 NOTCH2 4853 genome.wustl.edu 37 1 120462160 120462160 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024408.2 -1 reviewed p.E1852D 0.965 47 0% 36 36.1% - - benign(0.001) tolerated(0.56) neutral(0.006) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK NOTCH2 4853 genome.wustl.edu 37 1 120468193 120468193 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024408.2 -1 reviewed p.A1416S 0.001 30 0% 28 35.7% - - benign(0.028) tolerated(0.45) neutral(0.013) superfamily_SSF57196 NOTCH2 4853 genome.wustl.edu 37 1 120496205 120496205 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024408.2 -1 reviewed p.V776M 1.000 168 0% 62 14.5% - - possibly_damaging(0.7) tolerated(0.2) neutral(0.300) PatternScan_ASX_HYDROXYL,HMMSmart_EGF_CA,HMMPfam_EGF,PatternScan_EGF_CA,superfamily_SSF57196 NOTCH2 4853 genome.wustl.edu 37 1 120512258 120512258 + Silent SNP G G A rs187598092 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024408.2 -1 reviewed p.N328 0.233 92 0% 29 20.7% - - - - - HMMSmart_EGF_CA,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,superfamily_SSF57196 LOC653513 653513 genome.wustl.edu 37 1 144677019 144677019 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_927826.4 -1 model p.R86W 0.570 81 1.2% 32 21.9% - - - - - NULL PDE4DIP 9659 genome.wustl.edu 37 1 144857634 144857634 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014644.4 -1 validated p.T2140 0.000 276 0% 122 21.3% - - unknown(0) - - NULL PDE4DIP 9659 genome.wustl.edu 37 1 144903114 144903114 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014644.4 -1 validated p.E926 1.000 104 0% 30 30% - - - - - NULL PDE4DIP 9659 genome.wustl.edu 37 1 144915476 144915476 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014644.4 -1 validated p.Q650P 0.998 310 0% 126 17.5% - - probably_damaging(0.992) tolerated(0.23) deleterious(0.489) NULL BCL9 607 genome.wustl.edu 37 1 147091339 147091339 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004326.2 +1 reviewed p.D460N 0.998 10 0% 28 39.3% - - possibly_damaging(0.918) deleterious(0.01) deleterious(0.774) NULL SV2A 9900 genome.wustl.edu 37 1 149882414 149882414 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014849.3 -1 validated p.A307T 1.000 48 0% 63 31.7% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_MFS_1,superfamily_MFS general substrate transporter SF3B4 10262 genome.wustl.edu 37 1 149895613 149895613 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005850.3 -1 reviewed p.G366C 1.000 31 0% 53 30.2% - - unknown(0) tolerated(0.11) - NULL SF3B4 10262 genome.wustl.edu 37 1 149895745 149895745 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005850.3 -1 reviewed p.G359R 1.000 30 0% 51 41.2% - - unknown(0) deleterious(0.01) - NULL OTUD7B 56957 genome.wustl.edu 37 1 149916175 149916175 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020205.2 -1 validated p.G705R 0.052 37 0% 37 27% - - possibly_damaging(0.861) deleterious(0.03) deleterious(0.698) NULL VPS45 11311 genome.wustl.edu 37 1 150049783 150049783 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007259.3 +1 reviewed p.R205C 1.000 197 0% 90 34.4% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Sec1,superfamily_Sec1/munc18-like (SM) proteins VPS45 11311 genome.wustl.edu 37 1 150064489 150064489 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007259.3 +1 reviewed p.L453I 1.000 137 0% 62 32.3% - - benign(0) tolerated(0.69) neutral(0.002) HMMPfam_Sec1,superfamily_Sec1/munc18-like (SM) proteins RPRD2 23248 genome.wustl.edu 37 1 150413407 150413407 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015203.3 +1 validated p.S115Y 1.000 88 0% 53 11.3% - - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMSmart_SM00582,HMMPfam_DUF618,superfamily_ENTH/VHS domain RPRD2 23248 genome.wustl.edu 37 1 150444675 150444675 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015203.3 +1 validated p.P1084H 0.999 49 0% 49 28.6% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL TARS2 80222 genome.wustl.edu 37 1 150461641 150461641 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000369053 +1 known p.F155L 0.395 40 0% 29 37.9% - - unknown(0) - - NULL ECM1 1893 genome.wustl.edu 37 1 150483519 150483519 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004425.3 +1 reviewed p.R185C 0.313 36 0% 64 43.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ECM1 SETDB1 9869 genome.wustl.edu 37 1 150900246 150900246 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001145415.1 +1 reviewed p.S19F 1.000 150 0% 104 32.7% - - probably_damaging(0.962) deleterious(0) deleterious(0.850) NULL SETDB1 9869 genome.wustl.edu 37 1 150921914 150921914 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001145415.1 +1 reviewed p.S498Y 1.000 102 0% 85 43.5% - - probably_damaging(0.962) deleterious(0) deleterious(0.850) NULL SETDB1 9869 genome.wustl.edu 37 1 150936084 150936084 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001145415.1 +1 reviewed p.S1179L 1.000 39 0% 49 30.6% - - possibly_damaging(0.918) deleterious(0) deleterious(0.813) HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain ANXA9 8416 genome.wustl.edu 37 1 150957075 150957075 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003568.2 +1 validated p.A132V 0.779 82 0% 102 32.4% - - probably_damaging(0.991) deleterious(0) deleterious(0.889) superfamily_Annexin,HMMPfam_Annexin,HMMSmart_ANX FAM63A 55793 genome.wustl.edu 37 1 150970249 150970249 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018379.4 -1 validated p.L394M 1.000 29 0% 23 30.4% - - benign(0.017) tolerated(0.12) neutral(0.261) NULL FAM63A 55793 genome.wustl.edu 37 1 150971864 150971864 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018379.4 -1 validated p.S321I 1.000 86 0% 112 33.9% - - possibly_damaging(0.76) deleterious(0.04) deleterious(0.630) NULL FAM63A 55793 genome.wustl.edu 37 1 150975079 150975079 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018379.4 -1 validated p.Q5 0.009 46 0% 76 38.2% - - - - - NULL BNIPL 149428 genome.wustl.edu 37 1 151011435 151011435 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138278.3 +1 validated p.E122D 0.000 110 0% 140 40% - - possibly_damaging(0.558) tolerated(0.61) neutral(0.195) NULL GABPB2 126626 genome.wustl.edu 37 1 151070452 151070452 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144618.2 +1 validated p.S199Y 1.000 104 0% 71 39.4% - - possibly_damaging(0.887) deleterious(0.01) deleterious(0.752) NULL GABPB2 126626 genome.wustl.edu 37 1 151076148 151076148 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144618.2 +1 validated p.T245A 1.000 98 0% 75 37.3% - - benign(0.021) tolerated(0.34) neutral(0.024) NULL VPS72 6944 genome.wustl.edu 37 1 151156966 151156966 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005997.1 -1 provisional p.R130Q 1.000 54 0% 69 40.6% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_YL1 CGN 57530 genome.wustl.edu 37 1 151508090 151508090 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020770.2 +1 validated p.R1003S 0.774 94 0% 107 30.8% - - probably_damaging(1) tolerated(0.19) deleterious(0.549) HMMPfam_Myosin_tail_1 SNX27 81609 genome.wustl.edu 37 1 151611496 151611496 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030918.5 +1 reviewed p.D148E 1.000 73 0% 58 43.1% - - benign(0.002) tolerated(0.55) neutral(0.007) superfamily_PDZ,superfamily_PX RORC 6097 genome.wustl.edu 37 1 151785743 151785743 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005060.3 -1 reviewed p.Y382 1.000 125 0% 183 40.4% - - - - - HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain RORC 6097 genome.wustl.edu 37 1 151787505 151787505 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005060.3 -1 reviewed p.R232H 0.047 39 0% 92 10.9% - - benign(0) tolerated(0.29) neutral(0.029) NULL TCHH 7062 genome.wustl.edu 37 1 152080302 152080302 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007113.2 -1 provisional p.F1797 0.072 210 0% 307 29% - - - - - NULL FLG 2312 genome.wustl.edu 37 1 152280711 152280711 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002016.1 -1 reviewed p.A2217 0.000 368 0% 296 35.5% - - - - - HMMPfam_Filaggrin FLG 2312 genome.wustl.edu 37 1 152281402 152281402 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002016.1 -1 reviewed p.R1987H 0.000 324 0% 194 43.8% - - unknown(0) tolerated(0.24) - NULL FLG2 388698 genome.wustl.edu 37 1 152326460 152326460 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001014342.2 -1 provisional p.R1268* 0.000 645 0% 197 38.1% - - - - - NULL FLG2 388698 genome.wustl.edu 37 1 152327997 152327997 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001014342.2 -1 provisional p.S755 0.001 446 0% 127 29.1% - - - - - NULL LCE3D 84648 genome.wustl.edu 37 1 152552229 152552229 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032563.1 -1 validated p.R62* 0.106 81 0% 124 40.3% - - - - - NULL LCE2B 26239 genome.wustl.edu 37 1 152659587 152659587 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014357.4 +1 reviewed p.D90N 0.003 44 0% 76 36.8% - - unknown(0) - - NULL KPRP 448834 genome.wustl.edu 37 1 152732525 152732525 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001025231.1 +1 provisional p.V154A 0.001 110 0% 128 37.5% - - possibly_damaging(0.941) deleterious(0.04) deleterious(0.736) NULL LCE1E 353135 genome.wustl.edu 37 1 152759928 152759928 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178353.1 +1 validated p.C51 1.000 137 0% 159 15.1% - - - - - NULL LCE1B 353132 genome.wustl.edu 37 1 152784999 152784999 + Missense_Mutation SNP C C A rs41268508 byCluster;byFrequency TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178349.1 +1 validated p.T26N 0.043 262 0% 263 35.7% - - unknown(0) - - NULL PGLYRP4 57115 genome.wustl.edu 37 1 153315685 153315685 + Splice_Site SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020393.2 -1 validated e4-1 1.000 196 0% 104 10.6% - - - - - - S100A9 6280 genome.wustl.edu 37 1 153333263 153333263 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002965.3 +1 reviewed p.D98 0.000 18 0% 18 44.4% - - - - - NULL S100A7 6278 genome.wustl.edu 37 1 153430384 153430384 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002963.3 -1 reviewed p.K68N 0.082 136 0% 113 34.5% - - benign(0.068) tolerated(0.42) neutral(0.018) PatternScan_S100_CABP,PatternScan_EF_HAND_1,superfamily_SSF47473 S100A5 6276 genome.wustl.edu 37 1 153509894 153509894 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002962.1 -1 reviewed p.D71N 0.957 159 0% 208 37.5% - - possibly_damaging(0.783) deleterious(0) deleterious(0.738) superfamily_SSF47473 CHTOP 26097 genome.wustl.edu 37 1 153615741 153615741 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015607.2 +1 provisional p.R148* 1.000 150 0% 146 38.4% - - - - - NULL INTS3 65123 genome.wustl.edu 37 1 153736664 153736664 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_023015.3 +1 validated p.R631Q 0.999 115 0% 94 43.6% - - possibly_damaging(0.887) tolerated(0.61) neutral(0.351) NULL SLC27A3 11000 genome.wustl.edu 37 1 153749112 153749112 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000458027 +1 known p.P14Q 0.000 44 0% 116 34.5% - - - - - superfamily_Acetyl-CoA synthetase-like NUP210L 91181 genome.wustl.edu 37 1 154091231 154091231 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_207308.2 -1 validated p.K460N 1.000 244 0% 151 38.4% - - probably_damaging(0.996) tolerated(0.47) deleterious(0.473) superfamily_Invasin_intimin NUP210L 91181 genome.wustl.edu 37 1 154099823 154099823 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_207308.2 -1 validated p.V383 0.972 97 0% 127 30.7% - - - - - NULL NUP210L 91181 genome.wustl.edu 37 1 154108305 154108305 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_207308.2 -1 validated p.V332I 1.000 114 0% 148 37.2% - - benign(0.004) tolerated(0.48) neutral(0.011) NULL HAX1 10456 genome.wustl.edu 37 1 154246344 154246344 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000453365 +1 known p.S116N 1.000 47 0% 40 30% - - benign(0.359) deleterious(0) deleterious(0.558) NULL ATP8B2 57198 genome.wustl.edu 37 1 154315762 154315762 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020452.3 +1 reviewed p.R576W 1.000 40 0% 48 50% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF56784,superfamily_SSF81660,superfamily_SSF81665 ADAR 103 genome.wustl.edu 37 1 154574058 154574058 + Missense_Mutation SNP G G A rs186852211 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001111.3 -1 reviewed p.H354Y 0.959 205 0% 158 36.1% - - benign(0) tolerated(0.21) neutral(0.044) "HMMPfam_z-alpha,HMMSmart_SM00550,superfamily_""Winged helix"" DNA-binding domain" KCNN3 3782 genome.wustl.edu 37 1 154841532 154841532 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002249.4 -1 reviewed p.E303D 1.000 246 0% 321 11.2% - - possibly_damaging(0.948) deleterious(0.05) deleterious(0.736) HMMPfam_SK_channel PMVK 10654 genome.wustl.edu 37 1 154901596 154901596 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006556.3 -1 validated p.F72 0.005 70 0% 91 30.8% - - - - - HMMPfam_P-mevalo_kinase,superfamily_P-loop containing nucleoside triphosphate hydrolases FLAD1 80308 genome.wustl.edu 37 1 154960986 154960986 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025207.4 +1 reviewed p.L260 1.000 36 0% 67 35.8% - - - - - superfamily_Molybdenum cofactor biosynthesis proteins FAM189B 10712 genome.wustl.edu 37 1 155221537 155221537 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006589.2 -1 validated p.T261A 1.000 28 0% 54 24.1% - - probably_damaging(0.971) tolerated(0.14) deleterious(0.662) NULL CLK2 1196 genome.wustl.edu 37 1 155233149 155233149 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003993.2 -1 reviewed p.D453N 1.000 67 0% 111 18% - - benign(0.205) tolerated(0.13) neutral(0.273) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase FDPS 2224 genome.wustl.edu 37 1 155287988 155287988 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001135821.1 +1 reviewed p.D197G 0.994 120 0% 171 32.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_polyprenyl_synt,superfamily_Terpenoid_synth FDPS 2224 genome.wustl.edu 37 1 155288489 155288489 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001135821.1 +1 reviewed p.D240Y 1.000 93 0% 158 44.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_polyprenyl_synt,superfamily_Terpenoid_synth ASH1L 55870 genome.wustl.edu 37 1 155313186 155313186 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018489.2 -1 reviewed p.R2738W 1.000 222 0% 91 31.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_BAH,HMMSmart_SM00439 ASH1L 55870 genome.wustl.edu 37 1 155449016 155449016 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018489.2 -1 reviewed p.E1215D 1.000 216 0% 65 33.8% - - probably_damaging(0.971) deleterious(0) deleterious(0.857) NULL KIAA0907 22889 genome.wustl.edu 37 1 155887342 155887342 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014949.2 -1 predicted p.R463Q 1.000 34 0% 32 43.8% - - probably_damaging(0.975) deleterious(0.02) deleterious(0.800) NULL UBQLN4 56893 genome.wustl.edu 37 1 156011743 156011743 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000368307 -1 known p.S115P 0.865 21 0% 26 46.2% - - unknown(0) tolerated(0.08) - NULL UBQLN4 56893 genome.wustl.edu 37 1 156012661 156012661 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020131.3 -1 provisional p.I390 1.000 180 0% 249 36.9% - - - - - NULL UBQLN4 56893 genome.wustl.edu 37 1 156020177 156020177 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020131.3 -1 provisional p.R216C 1.000 135 0% 187 35.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_STI1 SLC25A44 9673 genome.wustl.edu 37 1 156169763 156169763 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014655.2 +1 validated p.R42H 1.000 172 0% 168 42.3% - - probably_damaging(0.976) deleterious(0) deleterious(0.863) superfamily_Mitoch_carrier,HMMPfam_Mito_carr PAQR6 79957 genome.wustl.edu 37 1 156216513 156216513 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198406.1 -1 provisional p.L4I 0.999 123 0% 167 37.7% - - benign(0.025) tolerated(0.18) neutral(0.057) NULL BCAN 63827 genome.wustl.edu 37 1 156628429 156628429 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021948.3 +1 validated p.C844 1.000 22 0% 30 30% - - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain ENSG00000250495 0 genome.wustl.edu 37 1 156638687 156638687 + RNA SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000515307 +1 novel NULL 0.000 7 0.000 14 0.500 - - - - - - NES 10763 genome.wustl.edu 37 1 156639593 156639593 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006617.1 -1 reviewed p.V1463M 0.000 21 0% 39 30.8% - - benign(0.026) deleterious(0) neutral(0.446) NULL NES 10763 genome.wustl.edu 37 1 156646347 156646347 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006617.1 -1 reviewed p.E237G 0.932 15 0% 32 34.4% - - benign(0) tolerated(0.51) neutral(0.009) HMMPfam_Filament PRCC 5546 genome.wustl.edu 37 1 156737611 156737611 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005973.4 +1 reviewed p.E16D 1.000 6 0.000 19 0.368 - - unknown(0) tolerated(0.49) - NULL INSRR 3645 genome.wustl.edu 37 1 156810781 156810781 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014215.1 -1 validated p.Y1260D 1.000 38 0% 83 36.1% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) superfamily_Kinase_like INSRR 3645 genome.wustl.edu 37 1 156810788 156810788 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014215.1 -1 validated p.L1257 0.004 44 0% 83 41% - - - - - superfamily_Kinase_like INSRR 3645 genome.wustl.edu 37 1 156823859 156823859 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014215.1 -1 validated p.R108C 0.944 36 2.8% 90 51.1% - - benign(0.353) deleterious(0.05) neutral(0.457) HMMPfam_Recep_L_domain,superfamily_SSF52058 NTRK1 4914 genome.wustl.edu 37 1 156851255 156851255 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002529.3 +1 reviewed p.D738N 1.000 9 0.000 9 0.556 - - benign(0.004) tolerated(0.1) neutral(0.286) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) PEAR1 375033 genome.wustl.edu 37 1 156883041 156883041 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080471.1 +1 provisional p.S826 0.944 133 0% 262 37.8% - - - - - superfamily_Grow_fac_recept LRRC71 149499 genome.wustl.edu 37 1 156894453 156894453 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144702.2 +1 validated p.R153Q 0.616 50 0% 107 29.9% - - possibly_damaging(0.886) tolerated(0.2) neutral(0.395) superfamily_RNI-like ARHGEF11 9826 genome.wustl.edu 37 1 156908226 156908226 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198236.1 -1 reviewed p.G1392 1.000 66 0% 84 35.7% - - - - - NULL ARHGEF11 9826 genome.wustl.edu 37 1 156914170 156914170 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198236.1 -1 reviewed p.I1016S 1.000 111 0% 110 10.9% - - benign(0.36) deleterious(0) deleterious(0.559) HMMSmart_PH,superfamily_SSF50729 ARHGEF11 9826 genome.wustl.edu 37 1 156931470 156931470 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198236.1 -1 reviewed p.A413V 1.000 99 0% 58 43.1% - - probably_damaging(0.974) deleterious(0) deleterious(0.861) HMMSmart_RGS,HMMPfam_RGS-like,superfamily_Regulat_G_prot_signal_superfam ETV3 2117 genome.wustl.edu 37 1 157094757 157094757 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001145312.1 -1 validated p.P472L 1.000 58 0% 48 35.4% - - benign(0.151) tolerated(1) neutral(0.013) NULL FCRL3 115352 genome.wustl.edu 37 1 157666950 157666950 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_052939.3 -1 reviewed p.R275K 0.000 128 0% 43 37.2% - - benign(0.001) tolerated(0.71) neutral(0.002) HMMSmart_SM00409,superfamily_Immunoglobulin KIRREL 55243 genome.wustl.edu 37 1 158047814 158047814 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018240.5 +1 validated p.D79G 0.999 88 0% 154 42.2% - - benign(0.341) tolerated(0.22) neutral(0.149) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin KIRREL 55243 genome.wustl.edu 37 1 158057619 158057619 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018240.5 +1 validated p.A246T 1.000 55 0% 71 33.8% - - probably_damaging(0.97) deleterious(0) deleterious(0.857) HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin KIRREL 55243 genome.wustl.edu 37 1 158059381 158059381 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018240.5 +1 validated p.I378 0.991 65 0% 108 38.9% - - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin CD1C 911 genome.wustl.edu 37 1 158262629 158262629 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001765.2 +1 reviewed p.S285N 0.428 125 0% 69 42% - - probably_damaging(0.995) deleterious(0.03) deleterious(0.822) HMMPfam_C1-set,HMMSmart_IGc1,superfamily_SSF48726 OR6P1 128366 genome.wustl.edu 37 1 158532571 158532571 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000334632 -1 known p.S275F 0.112 141 0% 69 37.7% - - possibly_damaging(0.887) deleterious(0) deleterious(0.791) HMMPfam_7tm_1,superfamily_SSF81321 OR6P1 128366 genome.wustl.edu 37 1 158533204 158533204 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000334632 -1 known p.G64V 0.005 74 0% 36 13.9% - - benign(0.43) tolerated(0.07) neutral(0.459) HMMPfam_7tm_1,superfamily_SSF81321 SPTA1 6708 genome.wustl.edu 37 1 158582697 158582697 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003126.2 -1 reviewed p.S2348 0.930 112 0% 24 50% - - - - - superfamily_EF-hand SPTA1 6708 genome.wustl.edu 37 1 158614107 158614107 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003126.2 -1 reviewed p.S1425F 0.989 125 0% 47 31.9% - - benign(0.005) deleterious(0.02) neutral(0.383) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat OR6K6 128371 genome.wustl.edu 37 1 158725325 158725325 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005184.1 +1 provisional p.V240 0.845 266 0% 138 40.6% - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR6K6 128371 genome.wustl.edu 37 1 158725591 158725591 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005184.1 +1 provisional p.G329V 0.000 184 0% 93 34.4% - - benign(0.045) deleterious(0.01) neutral(0.408) superfamily_Family A G protein-coupled receptor-like FCER1A 2205 genome.wustl.edu 37 1 159273776 159273776 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002001.2 +1 reviewed p.E45D 0.006 97 0% 21 23.8% - - benign(0.008) tolerated(1) - HMMSmart_IGc2,HMMPfam_ig,superfamily_SSF48726 OR10J3 441911 genome.wustl.edu 37 1 159283876 159283876 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001004467.1 -1 provisional p.D192Y 0.001 179 0% 51 41.2% - - probably_damaging(0.997) deleterious(0.04) deleterious(0.815) HMMPfam_7tm_1,superfamily_SSF81321 OR10J1 26476 genome.wustl.edu 37 1 159410066 159410066 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012351.2 +1 validated p.S173F 0.001 221 0% 95 45.3% - - probably_damaging(0.971) tolerated(0.79) neutral(0.414) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like C1orf204 284677 genome.wustl.edu 37 1 159807777 159807777 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001134233.1 -1 predicted p.V213 0.012 451 0% 316 30.4% - - - - - NULL IGSF9 57549 genome.wustl.edu 37 1 159900186 159900186 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001135050.1 -1 validated p.E619D 0.617 34 0% 75 38.7% - - probably_damaging(0.963) tolerated(0.12) deleterious(0.666) NULL IGSF9 57549 genome.wustl.edu 37 1 159912789 159912789 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001135050.1 -1 validated p.G71S 0.996 59 0% 110 35.5% - - probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 KCNJ10 3766 genome.wustl.edu 37 1 160011973 160011973 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002241.3 -1 reviewed p.G117E 0.446 134 0% 72 38.9% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_IRK,superfamily_Voltage-gated potassium channels KCNJ9 3765 genome.wustl.edu 37 1 160054399 160054399 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004983.2 +1 reviewed p.G193 0.981 10 0% 22 59.1% - - - - - HMMPfam_IRK,superfamily_Ig_E-set ATP1A2 477 genome.wustl.edu 37 1 160093201 160093201 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000702.3 +1 reviewed p.D126N 1.000 47 0% 64 32.8% - - possibly_damaging(0.516) deleterious(0.04) deleterious(0.522) superfamily_SSF81665 ATP1A2 477 genome.wustl.edu 37 1 160099935 160099935 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000702.3 +1 reviewed p.L502P 1.000 29 0% 37 35.1% - - probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_Hydrolase,superfamily_SSF56784,superfamily_SSF81660,superfamily_SSF81665 ATP1A4 480 genome.wustl.edu 37 1 160147417 160147417 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144699.3 +1 reviewed p.Y900C 0.000 187 0% 151 25.8% - - benign(0.051) tolerated(0.17) neutral(0.062) HMMPfam_Cation_ATPase_C,superfamily_Calcium ATPase transmembrane domain M PEA15 8682 genome.wustl.edu 37 1 160183220 160183220 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003768.3 +1 validated p.R113W 1.000 56 0% 73 34.2% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_DEATH domain COPA 1314 genome.wustl.edu 37 1 160259952 160259952 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001098398.1 -1 reviewed p.R1233C 1.000 123 0% 78 35.9% - - possibly_damaging(0.738) deleterious(0) deleterious(0.715) HMMPfam_COPI_C COPA 1314 genome.wustl.edu 37 1 160281662 160281662 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001098398.1 -1 reviewed p.R358W 1.000 110 0% 87 31% - - possibly_damaging(0.722) deleterious(0.03) deleterious(0.627) HMMPfam_Coatomer_WDAD NCSTN 23385 genome.wustl.edu 37 1 160326986 160326986 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015331.2 +1 reviewed p.E650D 1.000 102 0% 53 35.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL VANGL2 57216 genome.wustl.edu 37 1 160385637 160385637 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020335.1 +1 validated p.E4K 1.000 12 0% 31 41.9% - - unknown(0) deleterious(0.01) - NULL VANGL2 57216 genome.wustl.edu 37 1 160389222 160389222 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020335.1 +1 validated p.R208Q 0.995 87 0% 134 29.1% - - benign(0.054) tolerated(0.66) neutral(0.006) HMMPfam_Strabismus CD84 8832 genome.wustl.edu 37 1 160523894 160523894 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003874.3 -1 validated p.S144Y 0.000 109 0% 55 41.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00409,superfamily_Immunoglobulin LY9 4063 genome.wustl.edu 37 1 160783545 160783545 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002348.2 +1 validated p.T192A 0.785 105 0% 64 10.9% - - probably_damaging(0.996) tolerated(0.26) deleterious(0.496) superfamily_Immunoglobulin F11R 50848 genome.wustl.edu 37 1 160969677 160969677 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016946.4 -1 reviewed p.R228H 0.054 74 0% 48 35.4% - - benign(0.07) tolerated(0.28) neutral(0.036) HMMSmart_SM00409,superfamily_Immunoglobulin ARHGAP30 257106 genome.wustl.edu 37 1 161021140 161021140 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001025598.1 -1 validated p.P462T 0.860 40 0% 58 31% - - possibly_damaging(0.943) deleterious(0.01) deleterious(0.793) NULL ARHGAP30 257106 genome.wustl.edu 37 1 161023162 161023162 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001025598.1 -1 validated p.E184K 1.000 74 0% 88 31.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP UFC1 51506 genome.wustl.edu 37 1 161126806 161126806 + Missense_Mutation SNP C C T rs191173120 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016406.3 +1 validated p.R64W 1.000 118 0.8% 137 38.7% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_UFC1 USP21 27005 genome.wustl.edu 37 1 161130578 161130578 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001014443.2 +1 reviewed p.R50* 0.998 35 0% 62 38.7% - - - - - NULL ADAMTS4 9507 genome.wustl.edu 37 1 161163154 161163154 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005099.4 -1 reviewed p.C587Y 1.000 25 0% 64 35.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ADAMTS4 9507 genome.wustl.edu 37 1 161165328 161165328 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005099.4 -1 reviewed p.A396 0.920 95 0% 121 40.5% - - - - - "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" HSPA6 3310 genome.wustl.edu 37 1 161495056 161495056 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002155.3 +1 validated p.G203D 1.000 59 0% 119 27.7% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_HSP70,PatternScan_HSP70_2,superfamily_Actin-like ATPase domain HSPA6 3310 genome.wustl.edu 37 1 161495313 161495313 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002155.3 +1 validated p.L289 1.000 32 0% 45 35.6% - - - - - HMMPfam_HSP70,superfamily_Actin-like ATPase domain UHMK1 127933 genome.wustl.edu 37 1 162469759 162469759 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_175866.4 +1 reviewed p.V95M 1.000 243 0% 233 37.3% - - benign(0.002) tolerated(0.16) neutral(0.059) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase DDR2 4921 genome.wustl.edu 37 1 162722987 162722987 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001014796.1 +1 reviewed p.R62M 1.000 107 0% 38 39.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_F5_F8_type_C,HMMSmart_FA58C,superfamily_Gal_bind_like DDR2 4921 genome.wustl.edu 37 1 162745623 162745623 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001014796.1 +1 reviewed p.R680C 0.614 97 0% 35 14.3% - - benign(0.003) deleterious(0.01) neutral(0.406) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like HSD17B7 51478 genome.wustl.edu 37 1 162773314 162773314 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016371.2 +1 validated p.A246T 0.000 190 0% 43 37.2% - - benign(0.012) tolerated(0.21) neutral(0.044) superfamily_NAD(P)-binding Rossmann-fold domains LRRC52 440699 genome.wustl.edu 37 1 165513762 165513762 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005214.3 +1 validated p.S77G 1.000 103 0% 35 17.1% - - possibly_damaging(0.949) tolerated(0.3) neutral(0.422) superfamily_SSF52058 UCK2 7371 genome.wustl.edu 37 1 165860501 165860501 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012474.3 +1 reviewed p.E100* 1.000 121 0% 65 32.3% - - - - - HMMPfam_PRK,superfamily_P-loop containing nucleoside triphosphate hydrolases POGK 57645 genome.wustl.edu 37 1 166816793 166816793 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017542.3 +1 reviewed p.S108A 0.001 104 0% 77 27.3% - - benign(0.047) tolerated(0.14) neutral(0.253) NULL POGK 57645 genome.wustl.edu 37 1 166818519 166818519 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017542.3 +1 reviewed p.R235C 1.000 33 0% 28 32.1% - - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_BrkDBD DUSP27 92235 genome.wustl.edu 37 1 167095563 167095563 + Nonsense_Mutation SNP C C T rs181149914 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080426.1 +1 provisional p.R399* 1.000 49 0% 64 34.4% - - - - - NULL DUSP27 92235 genome.wustl.edu 37 1 167095659 167095659 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080426.1 +1 provisional p.R431W 0.003 19 0% 35 17.1% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL DUSP27 92235 genome.wustl.edu 37 1 167095818 167095818 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080426.1 +1 provisional p.L484 1.000 42 0% 57 36.8% - - - - - NULL DUSP27 92235 genome.wustl.edu 37 1 167095913 167095913 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080426.1 +1 provisional p.V515 0.010 53 0% 64 34.4% - - - - - NULL DUSP27 92235 genome.wustl.edu 37 1 167096540 167096540 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080426.1 +1 provisional p.Q724H 1.000 54 0% 52 40.4% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL DUSP27 92235 genome.wustl.edu 37 1 167096672 167096672 + Silent SNP C C A rs145856876 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080426.1 +1 provisional p.V768 0.002 31 0% 37 43.2% - - - - - NULL DUSP27 92235 genome.wustl.edu 37 1 167097543 167097543 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080426.1 +1 provisional p.R1059C 0.084 72 0% 54 46.3% - - possibly_damaging(0.824) deleterious(0) deleterious(0.756) NULL CD247 919 genome.wustl.edu 37 1 167407838 167407838 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198053.2 -1 reviewed p.R90H 0.115 94 0% 137 35.8% - - possibly_damaging(0.938) tolerated(0.12) deleterious(0.644) NULL ADCY10 55811 genome.wustl.edu 37 1 167779986 167779986 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018417.4 -1 reviewed p.E1549D 0.998 38 0% 43 34.9% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_TPR-like ADCY10 55811 genome.wustl.edu 37 1 167847760 167847760 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018417.4 -1 reviewed p.E444* 1.000 141 0% 62 37.1% - - - - - superfamily_Adenylyl and guanylyl cyclase catalytic domain TBX19 9095 genome.wustl.edu 37 1 168262395 168262395 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005149.2 +1 reviewed p.S161Y 1.000 170 0% 133 24.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_T-box,HMMSmart_TBOX,superfamily_P53_like_DNA_bnd DPT 1805 genome.wustl.edu 37 1 168698325 168698325 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001937.3 -1 reviewed p.Y30H 1.000 74 0% 29 44.8% - - unknown(0) tolerated(0.1) - NULL C1orf114 57821 genome.wustl.edu 37 1 169390741 169390741 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021179.1 -1 predicted p.R310* 0.000 247 0% 102 34.3% - - - - - NULL F5 2153 genome.wustl.edu 37 1 169487651 169487651 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000130.4 -1 reviewed p.K2115R 0.991 186 0% 36 25% - - possibly_damaging(0.858) tolerated(0.06) deleterious(0.653) HMMPfam_F5_F8_type_C,HMMSmart_SM00231,PatternScan_FA58C_1,superfamily_Galactose-binding domain-like F5 2153 genome.wustl.edu 37 1 169495212 169495212 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000130.4 -1 reviewed p.W1881* 0.998 132 0% 36 19.4% - - - - - PatternScan_MULTICOPPER_OXIDASE1,superfamily_Cupredoxins F5 2153 genome.wustl.edu 37 1 169511938 169511938 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000130.4 -1 reviewed p.A797V 0.004 315 0% 107 33.6% - - benign(0.002) deleterious(0.02) neutral(0.383) NULL F5 2153 genome.wustl.edu 37 1 169525964 169525964 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000130.4 -1 reviewed p.A291D 0.756 189 0% 79 35.4% - - probably_damaging(0.99) deleterious(0) deleterious(0.886) superfamily_Cupredoxins SELP 6403 genome.wustl.edu 37 1 169582825 169582825 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000446728 -1 known p.R196C 0.835 117 0% 27 40.7% - - - - - superfamily_EGF/Laminin METTL18 92342 genome.wustl.edu 37 1 169761885 169761885 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033418.1 -1 provisional p.R318C 0.245 71 0% 60 38.3% - - probably_damaging(0.992) tolerated(0.18) deleterious(0.504) HMMPfam_Methyltransf_16,superfamily_S-adenosyl-L-methionine-dependent methyltransferases C1orf112 55732 genome.wustl.edu 37 1 169822105 169822105 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018186.2 +1 predicted p.R847C 0.001 60 1.7% 29 37.9% - - benign(0.009) tolerated(0.05) neutral(0.346) NULL KIFAP3 22920 genome.wustl.edu 37 1 169947245 169947245 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014970.2 -1 reviewed p.D626 1.000 249 0% 52 13.5% - - - - - HMMPfam_KAP,superfamily_ARM repeat KIFAP3 22920 genome.wustl.edu 37 1 169951148 169951148 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014970.2 -1 reviewed p.S588F 1.000 173 0% 29 34.5% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_SM00185,HMMPfam_KAP,superfamily_ARM repeat KIFAP3 22920 genome.wustl.edu 37 1 170015872 170015872 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014970.2 -1 reviewed p.R100 0.496 136 0% 40 27.5% - - - - - HMMPfam_KAP FMO3 2328 genome.wustl.edu 37 1 171077277 171077277 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001002294.2 +1 reviewed p.V181A 0.000 209 0% 36 33.3% - - benign(0) tolerated(0.88) - HMMPfam_FMO-like,superfamily_FAD/NAD(P)-binding domain FMO3 2328 genome.wustl.edu 37 1 171083275 171083275 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001002294.2 +1 reviewed p.F319S 0.831 191 0% 47 36.2% - - benign(0.291) tolerated(0.05) neutral(0.435) HMMPfam_FMO-like,superfamily_FAD/NAD(P)-binding domain FMO3 2328 genome.wustl.edu 37 1 171085413 171085413 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001002294.2 +1 reviewed p.R417C 0.000 197 0% 53 17% - - benign(0.005) tolerated(0.05) neutral(0.345) HMMPfam_FMO-like FMO3 2328 genome.wustl.edu 37 1 171086487 171086487 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001002294.2 +1 reviewed p.V502I 0.013 171 0% 56 32.1% - - benign(0.084) tolerated(0.18) neutral(0.062) HMMPfam_FMO-like FMO4 2329 genome.wustl.edu 37 1 171300912 171300912 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002022.1 +1 reviewed p.T206 0.000 156 0% 52 32.7% - - - - - HMMPfam_FMO-like,superfamily_FAD/NAD(P)-binding domain PRRC2C 23215 genome.wustl.edu 37 1 171496939 171496939 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015172.3 +1 validated p.T402P 0.988 235 0% 135 13.3% - - unknown(0) - - NULL PRRC2C 23215 genome.wustl.edu 37 1 171526671 171526671 + Splice_Site SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000451306 +1 known e19-1 0.002 231 0% 147 32% - - - - - - PRRC2C 23215 genome.wustl.edu 37 1 171556272 171556272 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015172.3 +1 validated p.S2625N 1.000 140 0% 47 29.8% - - possibly_damaging(0.495) - - NULL MIR199A2 406977 genome.wustl.edu 37 1 172113720 172113720 + RNA SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000385289 -1 known NULL 1.000 71 0% 29 51.7% - - - - - - C1orf105 92346 genome.wustl.edu 37 1 172417599 172417599 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_139240.3 +1 validated p.A42 0.000 374 0.5% 255 31% - - - - - NULL C1orf9 51430 genome.wustl.edu 37 1 172579351 172579351 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014283.3 +1 validated p.E1239 0.959 92 0% 21 33.3% - - - - - NULL FASLG 356 genome.wustl.edu 37 1 172629268 172629268 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000639.1 +1 reviewed p.E128K 0.978 94 0% 115 47% - - possibly_damaging(0.903) deleterious(0.01) deleterious(0.764) NULL PRDX6 9588 genome.wustl.edu 37 1 173455474 173455474 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004905.2 +1 reviewed p.I160M 0.993 142 0% 92 32.6% - - possibly_damaging(0.923) deleterious(0) deleterious(0.817) superfamily_Thioredoxin-like,HMMPfam_1-cysPrx_C SLC9A11 284525 genome.wustl.edu 37 1 173499100 173499100 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178527.3 -1 validated p.Q753* 1.000 301 0% 94 31.9% - - - - - NULL DARS2 55157 genome.wustl.edu 37 1 173819523 173819523 + Missense_Mutation SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018122.4 +1 reviewed p.F417Y 0.000 101 0% 49 40.8% - - benign(0.02) tolerated(0.99) neutral(0.001) HMMPfam_GAD,HMMPfam_tRNA-synt_2,superfamily_SSF55261,superfamily_SSF55681 RC3H1 149041 genome.wustl.edu 37 1 173930270 173930270 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_172071.2 -1 validated p.S772F 1.000 330 0% 125 32.8% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL RC3H1 149041 genome.wustl.edu 37 1 173953661 173953661 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_172071.2 -1 validated p.L110V 1.000 122 0% 97 26.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TNN 63923 genome.wustl.edu 37 1 175046823 175046823 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022093.1 +1 validated p.I90T 1.000 43 0% 60 31.7% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL TNN 63923 genome.wustl.edu 37 1 175049509 175049509 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022093.1 +1 validated p.R332H 0.997 75 0% 93 36.6% - - probably_damaging(0.998) tolerated(0.57) deleterious(0.480) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PAPPA2 60676 genome.wustl.edu 37 1 176525967 176525967 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020318.2 +1 validated p.A170V 0.001 55 0% 40 35% - - benign(0) deleterious(0.03) neutral(0.364) NULL ASTN1 460 genome.wustl.edu 37 1 176833433 176833433 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004319.1 -1 validated p.S1291I 1.000 85 0% 44 45.5% - - benign(0.314) deleterious(0.03) neutral(0.463) NULL FAM5B 57795 genome.wustl.edu 37 1 177247738 177247738 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021165.2 +1 provisional p.R351Q 1.000 30 0% 24 37.5% - - possibly_damaging(0.867) tolerated(0.45) neutral(0.349) NULL FAM20B 9917 genome.wustl.edu 37 1 179013193 179013193 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014864.3 +1 validated p.V71M 1.000 73 0% 100 36% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL FAM20B 9917 genome.wustl.edu 37 1 179023681 179023681 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014864.3 +1 validated p.R161Q 1.000 107 0% 53 28.3% - - probably_damaging(0.998) tolerated(0.3) deleterious(0.503) NULL AXDND1 126859 genome.wustl.edu 37 1 179364309 179364309 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144696.4 +1 validated p.A361S 1.000 117 0% 52 17.3% - - unknown(0) deleterious(0) - NULL CEP350 9857 genome.wustl.edu 37 1 179966077 179966077 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014810.4 +1 reviewed p.T262N 0.525 204 0% 73 27.4% - - benign(0) tolerated(0.17) neutral(0.059) NULL QSOX1 5768 genome.wustl.edu 37 1 180153130 180153130 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002826.4 +1 reviewed p.V278F 0.000 95 0% 135 37% - - possibly_damaging(0.774) tolerated(0.09) deleterious(0.585) NULL CACNA1E 777 genome.wustl.edu 37 1 181726120 181726120 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000721.2 +1 reviewed p.R1396H 1.000 235 0% 116 35.3% - - probably_damaging(0.966) deleterious(0.01) deleterious(0.814) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CACNA1E 777 genome.wustl.edu 37 1 181731731 181731731 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000721.2 +1 reviewed p.N1543D 1.000 186 0% 53 41.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CACNA1E 777 genome.wustl.edu 37 1 181750660 181750660 + Splice_Site SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000721.2 +1 reviewed e39+1 1.000 47 0% 33 33.3% - - - - - - TEDDM1 127670 genome.wustl.edu 37 1 182368887 182368887 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_172000.3 -1 validated p.T245I 0.001 119 0% 66 36.4% - - benign(0.314) deleterious(0.01) deleterious(0.504) NULL RNASEL 6041 genome.wustl.edu 37 1 182555078 182555078 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021133.2 -1 reviewed p.I288 0.000 73 0% 32 34.4% - - - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat DHX9 1660 genome.wustl.edu 37 1 182836147 182836147 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001357.4 +1 reviewed p.I509S 1.000 253 0% 82 40.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_DEAH_ATP_HELICASE,HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases LAMC1 3915 genome.wustl.edu 37 1 183083772 183083772 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002293.3 +1 reviewed p.G376 0.022 80 0% 46 32.6% - - - - - HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,PatternScan_EGF_LAM_1,superfamily_SSF57196 LAMC1 3915 genome.wustl.edu 37 1 183099639 183099639 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002293.3 +1 reviewed p.I1147 0.022 87 0% 54 29.6% - - - - - NULL LAMC2 3918 genome.wustl.edu 37 1 183209508 183209508 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005562.2 +1 reviewed p.G1104S 0.002 97 0% 49 44.9% - - benign(0) tolerated(0.62) neutral(0.004) NULL NCF2 4688 genome.wustl.edu 37 1 183538285 183538285 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000433.3 -1 reviewed p.E235D 1.000 268 0% 189 27.5% - - possibly_damaging(0.802) tolerated(0.18) neutral(0.358) superfamily_SH3 HMCN1 83872 genome.wustl.edu 37 1 185931673 185931673 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031935.2 +1 reviewed p.P618S 1.000 194 0% 64 25% - - probably_damaging(0.999) tolerated(0.1) deleterious(0.777) HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HMCN1 83872 genome.wustl.edu 37 1 185934980 185934980 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031935.2 +1 reviewed p.L715 0.795 325 0% 76 31.6% - - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HMCN1 83872 genome.wustl.edu 37 1 186092143 186092143 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031935.2 +1 reviewed p.T4097M 0.009 76 0% 20 65% - - benign(0.011) tolerated(0.24) neutral(0.038) HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HMCN1 83872 genome.wustl.edu 37 1 186106738 186106738 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031935.2 +1 reviewed p.G4564D 1.000 131 0% 42 19% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat HMCN1 83872 genome.wustl.edu 37 1 186134306 186134306 + Splice_Site SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031935.2 +1 reviewed e98+1 1.000 231 0% 91 35.2% - - - - - - PRG4 10216 genome.wustl.edu 37 1 186276129 186276129 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005807.3 +1 reviewed p.K426N 0.000 248 0% 415 20.2% - - unknown(0) deleterious(0.03) - NULL PRG4 10216 genome.wustl.edu 37 1 186276525 186276525 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005807.3 +1 reviewed p.K558N 0.000 356 0.3% 534 33.3% - - unknown(0) deleterious(0.02) - NULL TPR 7175 genome.wustl.edu 37 1 186301393 186301393 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003292.2 -1 reviewed p.V1846 0.878 118 0% 31 38.7% - - - - - NULL TPR 7175 genome.wustl.edu 37 1 186304556 186304556 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003292.2 -1 reviewed p.R1609* 1.000 218 0.9% 45 26.7% - - - - - NULL PTGS2 5743 genome.wustl.edu 37 1 186643723 186643723 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000963.2 -1 reviewed p.C526Y 1.000 140 0% 90 13.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_An_peroxidase,superfamily_Heme-dependent peroxidases FAM5C 339479 genome.wustl.edu 37 1 190423793 190423793 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_199051.1 -1 provisional p.K76N 1.000 112 0% 85 30.6% - - benign(0) tolerated(0.07) neutral(0.319) HMMPfam_MACPF CFHR4 10877 genome.wustl.edu 37 1 196871563 196871563 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006684.2 +1 validated p.D25G 0.980 116 0% 42 35.7% - - benign(0.003) deleterious(0.04) neutral(0.349) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module CFHR5 81494 genome.wustl.edu 37 1 196973933 196973933 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030787.3 +1 reviewed p.T491 0.096 155 0% 59 37.3% - - - - - HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module F13B 2165 genome.wustl.edu 37 1 197030087 197030087 + Missense_Mutation SNP C C A rs17514253 byCluster;byFrequency;by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001994.2 -1 reviewed p.K190N 0.000 206 0% 42 28.6% - - benign(0) tolerated(0.27) neutral(0.034) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module ZBTB41 360023 genome.wustl.edu 37 1 197169024 197169024 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_194314.2 -1 validated p.E194K 1.000 74 0% 91 38.5% - - possibly_damaging(0.801) deleterious(0) deleterious(0.746) NULL CRB1 23418 genome.wustl.edu 37 1 197237609 197237609 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_201253.1 +1 reviewed p.K23Q 0.946 260 0% 57 47.4% - - probably_damaging(0.988) tolerated(0.09) deleterious(0.734) NULL CRB1 23418 genome.wustl.edu 37 1 197390380 197390380 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_201253.1 +1 reviewed p.G474 0.648 156 0% 52 11.5% - - - - - HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,PatternScan_EGF_1,PatternScan_EGF_2 CRB1 23418 genome.wustl.edu 37 1 197396606 197396606 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_201253.1 +1 reviewed p.G717 0.405 73 0% 18 22.2% - - - - - superfamily_Concanavalin A-like lectins/glucanases CRB1 23418 genome.wustl.edu 37 1 197404464 197404464 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_201253.1 +1 reviewed p.I1157 0.987 106 0% 12 33.3% - - - - - PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,superfamily_EGF/Laminin CRB1 23418 genome.wustl.edu 37 1 197446890 197446890 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_201253.1 +1 reviewed p.V1368I 0.000 115 0% 39 35.9% - - unknown(0) - - NULL DENND1B 163486 genome.wustl.edu 37 1 197479631 197479631 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001142795.1 -1 validated p.L743V 0.004 202 0.5% 45 31.1% - - possibly_damaging(0.646) tolerated(0.12) deleterious(0.487) NULL PTPRC 5788 genome.wustl.edu 37 1 198665930 198665930 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002838.3 +1 reviewed p.E62* 0.975 213 0% 89 38.2% - - - - - NULL KIF14 9928 genome.wustl.edu 37 1 200569189 200569189 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014875.2 -1 validated p.K785Q 0.995 111 0% 56 39.3% - - benign(0.052) tolerated(0.14) neutral(0.253) NULL KIF14 9928 genome.wustl.edu 37 1 200569559 200569559 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014875.2 -1 validated p.R742K 0.998 277 0% 94 37.2% - - probably_damaging(0.99) tolerated(0.16) deleterious(0.501) NULL C1orf106 55765 genome.wustl.edu 37 1 200860702 200860702 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018265.2 +1 validated p.P12T 1.000 38 0% 64 28.1% - - probably_damaging(0.974) deleterious(0) deleterious(0.861) NULL C1orf106 55765 genome.wustl.edu 37 1 200870064 200870064 + Splice_Site SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018265.2 +1 validated e5-1 1.000 6 0.000 12 0.417 - - - - - - C1orf106 55765 genome.wustl.edu 37 1 200878431 200878431 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018265.2 +1 validated p.P374S 0.339 14 0% 13 61.5% - - possibly_damaging(0.81) deleterious(0.01) deleterious(0.711) NULL C1orf106 55765 genome.wustl.edu 37 1 200880759 200880759 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018265.2 +1 validated p.S465A 0.998 18 0% 60 46.7% - - benign(0.396) deleterious(0) deleterious(0.572) NULL KIF21B 23046 genome.wustl.edu 37 1 200972875 200972875 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017596.2 -1 provisional p.D351Y 1.000 169 0% 285 31.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SSF52540 LAD1 3898 genome.wustl.edu 37 1 201352338 201352338 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005558.3 -1 reviewed p.R417I 0.981 39 0% 61 31.1% - - possibly_damaging(0.926) deleterious(0.01) deleterious(0.780) NULL PHLDA3 23612 genome.wustl.edu 37 1 201437663 201437663 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012396.3 -1 validated p.D84 1.000 22 0% 39 43.6% - - - - - HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 NAV1 89796 genome.wustl.edu 37 1 201682025 201682025 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020443.4 +1 reviewed p.R280* 0.994 38 0% 38 31.6% - - - - - NULL LGR6 59352 genome.wustl.edu 37 1 202266689 202266689 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001017403.1 +1 reviewed p.G257D 1.000 62 0% 57 42.1% - - possibly_damaging(0.757) tolerated(0.49) neutral(0.290) HMMSmart_SM00369,HMMSmart_SM00364,superfamily_RNI-like SYT2 127833 genome.wustl.edu 37 1 202572246 202572246 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001136504.1 -1 validated p.D116N 1.000 151 0% 96 10.4% - - unknown(0) tolerated(0.34) - NULL KDM5B 10765 genome.wustl.edu 37 1 202700147 202700147 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006618.3 -1 validated p.L1356F 1.000 130 0% 46 41.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL KLHL12 59349 genome.wustl.edu 37 1 202887459 202887459 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021633.2 -1 provisional p.L136P 1.000 145 0% 107 33.6% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_BACK ENSG00000245250 0 genome.wustl.edu 37 1 202935809 202935809 + RNA SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000501099 +1 novel NULL 0.004 52 0% 95 36.8% - - - - - - MYBPH 4608 genome.wustl.edu 37 1 203144506 203144506 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004997.2 -1 validated p.L97M 0.139 47 0% 62 30.6% - - benign(0.11) deleterious(0.05) neutral(0.354) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like CHI3L1 1116 genome.wustl.edu 37 1 203148627 203148627 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000404436 -1 known p.G135* 0.072 38 0% 74 20.3% - - benign(0.001) deleterious(0.04) neutral(0.349) superfamily_(Trans)glycosidases FMOD 2331 genome.wustl.edu 37 1 203311541 203311541 + Missense_Mutation SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002023.3 -1 reviewed p.E354V 1.000 21 0% 25 44% - - benign(0.218) tolerated(0.22) neutral(0.064) superfamily_SSF52058 PRELP 5549 genome.wustl.edu 37 1 203455873 203455873 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002725.3 +1 reviewed p.A338V 0.142 64 0% 91 41.8% - - benign(0.008) tolerated(0.27) neutral(0.034) HMMPfam_LRR_1,superfamily_L domain-like ATP2B4 493 genome.wustl.edu 37 1 203690392 203690392 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001684.3 +1 reviewed p.A889V 1.000 100 0% 75 30.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cation_ATPase_C,superfamily_Calcium ATPase transmembrane domain M ZC3H11A 9877 genome.wustl.edu 37 1 203798691 203798691 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014827.4 +1 validated p.S137 0.946 104 0% 66 24.2% - - - - - NULL PLEKHA6 22874 genome.wustl.edu 37 1 204230504 204230504 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014935.2 -1 validated p.A152S 1.000 37 0% 55 50.9% - - benign(0.34) deleterious(0.01) deleterious(0.513) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 PIK3C2B 5287 genome.wustl.edu 37 1 204409360 204409360 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002646.3 -1 reviewed p.R1113 1.000 87 0% 63 34.9% - - - - - HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,superfamily_Protein kinase-like (PK-like) LRRN2 10446 genome.wustl.edu 37 1 204588370 204588370 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006338.2 -1 reviewed p.R251W 0.037 23 0% 44 43.2% - - probably_damaging(0.982) deleterious(0) deleterious(0.871) HMMSmart_SM00369,HMMSmart_SM00365,superfamily_L domain-like RBBP5 5929 genome.wustl.edu 37 1 205074201 205074201 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005057.2 -1 reviewed p.R105Q 1.000 114 0% 35 28.6% - - possibly_damaging(0.813) tolerated(0.28) neutral(0.339) superfamily_WD40 repeat-like TMCC2 9911 genome.wustl.edu 37 1 205238462 205238462 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014858.3 +1 validated p.R378W 0.999 20 0% 23 26.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Tmemb_cc2 PM20D1 148811 genome.wustl.edu 37 1 205799418 205799418 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152491.4 -1 validated p.D459Y 0.015 391 0% 218 39% - - possibly_damaging(0.947) deleterious(0) deleterious(0.835) HMMPfam_Peptidase_M20,superfamily_Zn-dependent exopeptidases IKBKE 9641 genome.wustl.edu 37 1 206666692 206666692 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014002.2 +1 validated p.R676* 0.094 27 0% 32 43.8% - - - - - NULL C1orf116 79098 genome.wustl.edu 37 1 207196276 207196276 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_023938.5 -1 validated p.A278D 0.000 286 0% 231 37.2% - - benign(0.132) tolerated(0.15) neutral(0.252) NULL CR2 1380 genome.wustl.edu 37 1 207643397 207643397 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001006658.2 +1 reviewed p.R392L 0.288 62 0% 17 47.1% - - possibly_damaging(0.847) tolerated(0.08) deleterious(0.625) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module CR1 1378 genome.wustl.edu 37 1 207697065 207697065 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000434033 +1 known p.A175V 0.000 221 0% 88 42% - - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CR1 1378 genome.wustl.edu 37 1 207751541 207751541 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000651.4 +1 reviewed p.C1643* 1.000 74 0% 29 31% - - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CR1 1378 genome.wustl.edu 37 1 207753875 207753875 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000651.4 +1 reviewed p.F1711L 0.002 352 0% 87 44.8% - - possibly_damaging(0.86) tolerated(0.91) neutral(0.333) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CD46 4179 genome.wustl.edu 37 1 207934771 207934771 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_172359.1 +1 reviewed p.R218H 0.000 226 0% 225 28.9% - - benign(0) tolerated(0.22) neutral(0.042) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module PLXNA2 5362 genome.wustl.edu 37 1 208205047 208205047 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025179.3 -1 reviewed p.R1705W 1.000 69 0% 68 41.2% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_GTPase activation domain GAP,HMMPfam_Plexin_cytopl PLXNA2 5362 genome.wustl.edu 37 1 208227856 208227856 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025179.3 -1 reviewed p.L922 0.000 39 0% 30 40% - - - - - HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains LOC642587 642587 genome.wustl.edu 37 1 209602665 209602665 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001104548.1 +1 validated p.R8I 0.005 110 0% 92 39.1% - - - - - NULL LAMB3 3914 genome.wustl.edu 37 1 209803266 209803266 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000228.2 -1 reviewed p.C316 1.000 45 0% 61 11.5% - - - - - HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_SSF57196 HSD11B1 3290 genome.wustl.edu 37 1 209878329 209878329 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005525.2 +1 reviewed p.L14 0.186 208 0% 72 25% - - - - - NULL TRAF3IP3 80342 genome.wustl.edu 37 1 209933431 209933431 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025228.2 +1 reviewed p.A16V 0.960 22 0% 17 23.5% - - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL TRAF3IP3 80342 genome.wustl.edu 37 1 209946343 209946343 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025228.2 +1 reviewed p.N231 1.000 134 0% 136 11.8% - - - - - NULL DIEXF 27042 genome.wustl.edu 37 1 210004319 210004319 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014388.5 +1 validated p.D107N 0.000 157 0% 93 36.6% - - benign(0) tolerated(0.36) neutral(0.020) NULL SERTAD4 56256 genome.wustl.edu 37 1 210414968 210414968 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_019605.3 +1 validated p.I119 0.997 79 0% 75 14.7% - - - - - HMMPfam_SERTA SERTAD4 56256 genome.wustl.edu 37 1 210415617 210415617 + Missense_Mutation SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_019605.3 +1 validated p.L336I 1.000 62 0% 52 15.4% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL HHAT 55733 genome.wustl.edu 37 1 210591561 210591561 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001122834.2 +1 validated p.R250C 1.000 61 0% 49 36.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MBOAT HHAT 55733 genome.wustl.edu 37 1 210637960 210637960 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001122834.2 +1 validated p.R323L 1.000 112 0% 33 42.4% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_MBOAT DTL 51514 genome.wustl.edu 37 1 212274110 212274110 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016448.2 +1 validated p.G593D 0.322 136 0% 65 35.4% - - probably_damaging(1) tolerated(0.17) deleterious(0.559) NULL PPP2R5A 5525 genome.wustl.edu 37 1 212506884 212506884 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006243.2 +1 reviewed p.D142Y 1.000 133 0% 51 27.5% - - probably_damaging(0.981) tolerated(0.06) deleterious(0.748) HMMPfam_B56,superfamily_ARM repeat FAM71A 149647 genome.wustl.edu 37 1 212799034 212799034 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153606.3 +1 validated p.T272I 0.038 26 0% 33 27.3% - - possibly_damaging(0.515) deleterious(0.04) deleterious(0.522) NULL FAM71A 149647 genome.wustl.edu 37 1 212799622 212799622 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153606.3 +1 validated p.A468V 0.000 82 0% 75 36% - - probably_damaging(0.998) tolerated(0.24) deleterious(0.512) NULL FAM71A 149647 genome.wustl.edu 37 1 212799686 212799686 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153606.3 +1 validated p.S489 0.000 36 0% 52 38.5% - - - - - NULL VASH2 79805 genome.wustl.edu 37 1 213146004 213146004 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024749.3 +1 validated p.V150I 0.998 157 0% 97 33% - - benign(0.196) tolerated(1) neutral(0.018) NULL RPS6KC1 26750 genome.wustl.edu 37 1 213251138 213251138 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012424.3 +1 validated p.F81S 1.000 167 0% 55 40% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain PROX1 5629 genome.wustl.edu 37 1 214170000 214170000 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002763.3 +1 provisional p.F41C 1.000 159 0% 180 36.7% - - possibly_damaging(0.716) deleterious(0.01) deleterious(0.665) HMMPfam_Prox1 PROX1 5629 genome.wustl.edu 37 1 214170724 214170724 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002763.3 +1 provisional p.E282D 0.996 65 0% 69 37.7% - - benign(0) tolerated(0.65) neutral(0.003) HMMPfam_Prox1 CENPF 1063 genome.wustl.edu 37 1 214794197 214794197 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016343.3 +1 reviewed p.T258I 0.000 88 0% 32 25% - - benign(0.002) tolerated(0.14) neutral(0.249) HMMPfam_Cenp-F_N CENPF 1063 genome.wustl.edu 37 1 214814998 214814998 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016343.3 +1 reviewed p.V1106A 0.047 108 0% 33 48.5% - - benign(0.234) tolerated(0.49) neutral(0.034) NULL KCNK2 3776 genome.wustl.edu 37 1 215408380 215408380 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001017425.2 +1 reviewed p.S391 0.924 117 0% 28 42.9% - - - - - NULL KCTD3 51133 genome.wustl.edu 37 1 215777555 215777555 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016121.3 +1 validated p.V407A 0.996 156 0.6% 42 26.2% - - probably_damaging(0.974) tolerated(0.26) neutral(0.450) superfamily_WD40 repeat-like USH2A 7399 genome.wustl.edu 37 1 215848263 215848263 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_206933.2 -1 reviewed p.S4330 0.718 81 0% 35 34.3% - - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III USH2A 7399 genome.wustl.edu 37 1 215848679 215848679 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_206933.2 -1 reviewed p.R4192C 1.000 162 0% 45 35.6% - - probably_damaging(0.998) tolerated(0.07) deleterious(0.793) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III USH2A 7399 genome.wustl.edu 37 1 215953252 215953252 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_206933.2 -1 reviewed p.Q3624 0.997 236 0% 79 36.7% - - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III USH2A 7399 genome.wustl.edu 37 1 215963420 215963420 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_206933.2 -1 reviewed p.S3388* 1.000 156 0% 41 39% - - - - - HMMSmart_SM00060,superfamily_Fibronectin type III USH2A 7399 genome.wustl.edu 37 1 216052118 216052118 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_206933.2 -1 reviewed p.G2849E 1.000 161 0% 34 32.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III USH2A 7399 genome.wustl.edu 37 1 216420061 216420061 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_206933.2 -1 reviewed p.D892G 0.000 190 0% 47 38.3% - - benign(0) tolerated(0.48) neutral(0.011) HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,superfamily_Concanavalin A-like lectins/glucanases,superfamily_EGF/Laminin ESRRG 2104 genome.wustl.edu 37 1 216692757 216692757 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001438.2 -1 validated p.S290F 1.000 78 0% 14 50% - - probably_damaging(0.992) deleterious(0.03) deleterious(0.812) HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain TGFB2 7042 genome.wustl.edu 37 1 218614662 218614662 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001135599.1 +1 validated p.E429 1.000 181 0% 48 31.2% - - - - - HMMPfam_TGF_beta,HMMSmart_SM00204,superfamily_Cystine-knot cytokines EPRS 2058 genome.wustl.edu 37 1 220195799 220195799 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004446.2 -1 reviewed p.S335 0.997 327 0% 128 34.4% - - - - - HMMPfam_tRNA-synt_1c,superfamily_SSF52374 IARS2 55699 genome.wustl.edu 37 1 220275516 220275516 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018060.3 +1 validated p.F199C 1.000 164 0% 162 30.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_tRNA-synt_1,superfamily_Nucleotidylyl transferase RAB3GAP2 25782 genome.wustl.edu 37 1 220364442 220364442 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012414.3 -1 reviewed p.R485 0.733 137 0% 21 33.3% - - - - - NULL MARK1 4139 genome.wustl.edu 37 1 220752806 220752806 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018650.3 +1 validated p.Q54 1.000 107 0% 36 33.3% - - - - - superfamily_Protein kinase-like (PK-like) MARC2 54996 genome.wustl.edu 37 1 220928288 220928288 + Splice_Site SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017898.3 +1 provisional e2-1 1.000 197 0% 216 38.4% - - - - - - DUSP10 11221 genome.wustl.edu 37 1 221912919 221912919 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007207.3 -1 reviewed p.A56 1.000 97 0% 126 40.5% - - - - - NULL MIA3 375056 genome.wustl.edu 37 1 222838879 222838879 + Missense_Mutation SNP C C A rs183067270 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198551.2 +1 validated p.P1881Q 0.975 103 0% 53 35.8% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL FAM177B 400823 genome.wustl.edu 37 1 222922374 222922374 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000391880 +1 known p.S105P 0.508 186 0% 61 39.3% - - benign(0.205) tolerated(0.07) neutral(0.339) NULL DISP1 84976 genome.wustl.edu 37 1 223177026 223177026 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032890.2 +1 reviewed p.R763C 1.000 100 0% 30 43.3% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Patched DISP1 84976 genome.wustl.edu 37 1 223177981 223177981 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032890.2 +1 reviewed p.S1081Y 1.000 85 0% 48 35.4% - - probably_damaging(0.998) tolerated(0.25) deleterious(0.511) HMMPfam_Patched,superfamily_SSF82866 TLR5 7100 genome.wustl.edu 37 1 223283825 223283825 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003268.5 -1 reviewed p.P850Q 0.000 106 0% 97 33% - - benign(0.004) tolerated(0.62) neutral(0.004) NULL C1orf65 164127 genome.wustl.edu 37 1 223567983 223567983 + Missense_Mutation SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152610.2 +1 validated p.L389H 0.000 12 0% 21 52.4% - - probably_damaging(0.97) tolerated(0.08) deleterious(0.712) NULL CAPN2 824 genome.wustl.edu 37 1 223938639 223938639 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001748.4 +1 reviewed p.P287 1.000 107 0% 161 33.5% - - - - - HMMPfam_Peptidase_C2,HMMSmart_SM00230,superfamily_Cysteine proteinases CAPN2 824 genome.wustl.edu 37 1 223943295 223943295 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001748.4 +1 reviewed p.R417W 1.000 112 0% 175 38.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Calpain_III,HMMSmart_SM00720,superfamily_Calpain large subunit middle domain (domain III) NVL 4931 genome.wustl.edu 37 1 224420956 224420956 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002533.2 -1 validated p.S801Y 0.984 167 0% 103 40.8% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases NVL 4931 genome.wustl.edu 37 1 224482063 224482063 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002533.2 -1 validated p.N411D 1.000 96 0% 54 35.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00382,HMMPfam_AAA,PatternScan_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH14 127602 genome.wustl.edu 37 1 225270264 225270264 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001373.1 +1 validated p.S1050 0.011 47 0% 27 29.6% - - - - - HMMPfam_DHC_N2 DNAH14 127602 genome.wustl.edu 37 1 225332189 225332189 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000330118 +1 known p.A184V 0.989 89 0% 26 15.4% - - - - - NULL DNAH14 127602 genome.wustl.edu 37 1 225340565 225340565 + Missense_Mutation SNP C C T rs183567269 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001373.1 +1 validated p.R1709C 0.013 150 0% 68 36.8% - - benign(0) deleterious(0) neutral(0.445) superfamily_P-loop containing nucleoside triphosphate hydrolases LBR 3930 genome.wustl.edu 37 1 225609877 225609877 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002296.2 -1 reviewed p.P90S 0.000 50 0% 55 14.5% - - benign(0) tolerated(0.12) neutral(0.261) NULL LBR 3930 genome.wustl.edu 37 1 225609909 225609909 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002296.2 -1 reviewed p.R79Q 0.666 55 0% 55 27.3% - - possibly_damaging(0.931) deleterious(0.02) deleterious(0.760) NULL ENAH 55740 genome.wustl.edu 37 1 225695652 225695652 + Splice_Site SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001008493.1 -1 validated e11+1 1.000 162 0% 57 38.6% - - - - - - ENAH 55740 genome.wustl.edu 37 1 225706963 225706963 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001008493.1 -1 validated p.R247* 0.974 369 0% 308 35.4% - - - - - NULL ENAH 55740 genome.wustl.edu 37 1 225707149 225707149 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001008493.1 -1 validated p.R185* 0.996 277 0% 284 40.5% - - - - - NULL ITPKB 3707 genome.wustl.edu 37 1 226829674 226829674 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002221.3 -1 reviewed p.R800Q 1.000 54 0% 114 42.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_IPK,superfamily_SAICAR synthase-like CDC42BPA 8476 genome.wustl.edu 37 1 227288785 227288785 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000442054 -1 known p.E13* 1.000 126 0% 61 27.9% - - possibly_damaging(0.655) tolerated(0.18) neutral(0.287) NULL C1orf35 79169 genome.wustl.edu 37 1 228288863 228288863 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024319.2 -1 provisional p.R254H 0.000 106 0% 188 40.4% - - benign(0.004) tolerated(0.36) neutral(0.020) NULL GUK1 2987 genome.wustl.edu 37 1 228334611 228334611 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000858.5 +1 validated p.E75K 1.000 75 0% 177 38.4% - - benign(0.022) tolerated(0.26) neutral(0.035) HMMPfam_Guanylate_kin,HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases OBSCN 84033 genome.wustl.edu 37 1 228403340 228403340 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001098623.1 +1 reviewed p.D635 1.000 53 0% 99 37.4% - - - - - HMMSmart_SM00409,superfamily_Immunoglobulin OBSCN 84033 genome.wustl.edu 37 1 228486281 228486281 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000366707 +1 known p.R1048I 0.000 64 0% 33 27.3% - - probably_damaging(0.995) tolerated(0.18) deleterious(0.514) HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin OBSCN 84033 genome.wustl.edu 37 1 228521334 228521334 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001098623.1 +1 reviewed p.A5303T 0.001 60 0% 99 34.3% - - benign(0.017) tolerated(0.62) neutral(0.005) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin OBSCN 84033 genome.wustl.edu 37 1 228547369 228547369 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_052843.2 +1 reviewed p.R6259H 0.948 15 0% 44 20.5% - - probably_damaging(0.995) deleterious(0.05) deleterious(0.803) NULL OBSCN 84033 genome.wustl.edu 37 1 228558760 228558760 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001098623.1 +1 reviewed p.R6761C 1.000 19 0% 41 14.6% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL OBSCN 84033 genome.wustl.edu 37 1 228564758 228564758 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001098623.1 +1 reviewed p.R7682H 1.000 15 0% 28 28.6% - - possibly_damaging(0.865) deleterious(0) deleterious(0.780) HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase OBSCN 84033 genome.wustl.edu 37 1 228565355 228565355 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000441106 +1 known p.P2432S 0.016 77 0% 135 32.6% - - - - - HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase TRIM11 81559 genome.wustl.edu 37 1 228582687 228582687 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_145214.2 -1 reviewed p.G376S 0.615 58 0% 117 15.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SPRY,HMMSmart_SM00449 HIST3H3 8290 genome.wustl.edu 37 1 228612855 228612855 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003493.2 -1 reviewed p.S58P 1.000 64 0% 98 25.5% - - possibly_damaging(0.848) - - HMMSmart_SM00428,HMMPfam_Histone,superfamily_Histone-fold HIST3H3 8290 genome.wustl.edu 37 1 228612947 228612947 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003493.2 -1 reviewed p.R27H 0.999 20 0% 56 23.2% - - benign(0.003) - - superfamily_Histone-fold HIST3H2BB 128312 genome.wustl.edu 37 1 228645850 228645850 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_175055.2 +1 reviewed p.S7L 0.021 115 0% 201 38.8% - - benign(0.103) deleterious(0) neutral(0.453) superfamily_Histone-fold NUP133 55746 genome.wustl.edu 37 1 229622245 229622245 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018230.2 -1 reviewed p.G458D 0.975 157 0% 78 12.8% - - benign(0.004) tolerated(0.68) neutral(0.002) HMMPfam_Nup133_N TAF5L 27097 genome.wustl.edu 37 1 229738141 229738141 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014409.3 -1 reviewed p.T258N 1.000 106 0% 65 32.3% - - probably_damaging(0.975) deleterious(0) deleterious(0.861) HMMSmart_SM00320,superfamily_WD40 repeat-like TAF5L 27097 genome.wustl.edu 37 1 229750222 229750222 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014409.3 -1 reviewed p.R3Q 1.000 65 0% 33 42.4% - - probably_damaging(0.963) deleterious(0.02) deleterious(0.788) NULL URB2 9816 genome.wustl.edu 37 1 229773726 229773726 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014777.2 +1 provisional p.T1122 0.000 93 0% 81 35.8% - - - - - NULL URB2 9816 genome.wustl.edu 37 1 229773870 229773870 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014777.2 +1 provisional p.G1170 0.000 221 0% 223 30.9% - - - - - NULL COG2 22796 genome.wustl.edu 37 1 230795287 230795287 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007357.2 +1 reviewed p.E50 0.993 114 0% 39 35.9% - - - - - HMMPfam_COG2 AGT 183 genome.wustl.edu 37 1 230846376 230846376 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000029.3 -1 reviewed p.A74V 1.000 163 0% 146 28.8% - - benign(0.039) tolerated(0.33) neutral(0.026) superfamily_Serpins C1orf198 84886 genome.wustl.edu 37 1 230979399 230979399 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032800.2 -1 validated p.L210M 0.976 50 0% 49 38.8% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL TTC13 79573 genome.wustl.edu 37 1 231060636 231060636 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024525.4 -1 validated p.R558W 0.999 184 0% 144 36.1% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL TRIM67 440730 genome.wustl.edu 37 1 231349563 231349563 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001004342.3 +1 validated p.T709M 1.000 37 0% 56 26.8% - - probably_damaging(0.982) tolerated(0.09) deleterious(0.723) HMMPfam_SPRY,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00449 EXOC8 149371 genome.wustl.edu 37 1 231472167 231472167 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_175876.3 -1 validated p.A442V 1.000 27 0% 27 40.7% - - possibly_damaging(0.773) tolerated(0.27) neutral(0.321) NULL C1orf124 83932 genome.wustl.edu 37 1 231488484 231488484 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032018.4 +1 validated p.D283Y 0.002 69 0% 38 36.8% - - benign(0.301) deleterious(0.05) neutral(0.439) NULL EGLN1 54583 genome.wustl.edu 37 1 231556987 231556987 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022051.2 -1 reviewed p.K216N 0.170 28 0% 48 16.7% - - possibly_damaging(0.642) tolerated(0.38) neutral(0.242) HMMSmart_SM00702 SIPA1L2 57568 genome.wustl.edu 37 1 232650258 232650258 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020808.3 -1 validated p.K276N 0.990 81 0% 26 23.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL KIAA1383 54627 genome.wustl.edu 37 1 232941414 232941414 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_019090.2 +1 validated p.D215 0.053 6 0.000 19 0.368 - - - - - NULL PCNXL2 80003 genome.wustl.edu 37 1 233393854 233393854 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014801.3 -1 provisional p.S585F 0.998 157 0% 55 16.4% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL RBM34 23029 genome.wustl.edu 37 1 235318412 235318412 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015014.2 -1 validated p.A122 0.600 265 0% 216 13.9% - - unknown(0) - - NULL RBM34 23029 genome.wustl.edu 37 1 235323912 235323912 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015014.2 -1 validated p.Q88H 0.000 506 0% 621 11.6% - - possibly_damaging(0.924) tolerated(0.18) neutral(0.429) NULL TBCE 6905 genome.wustl.edu 37 1 235577774 235577774 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001079515.1 +1 reviewed p.R71H 1.000 154 0.6% 207 31.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CAP_GLY,superfamily_SSF52047 TBCE 6905 genome.wustl.edu 37 1 235577847 235577847 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001079515.1 +1 reviewed p.P95 0.040 162 0% 203 35% - - - - - superfamily_SSF52047 GNG4 2786 genome.wustl.edu 37 1 235715441 235715441 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001098721.1 -1 validated p.R66C 1.000 102 0% 79 29.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_G-gamma,HMMSmart_SM00224,superfamily_Transducin (heterotrimeric G protein) gamma chain LYST 1130 genome.wustl.edu 37 1 235856784 235856784 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000081.2 -1 reviewed p.V3523M 1.000 81 0% 55 36.4% - - probably_damaging(0.998) - - superfamily_WD40 repeat-like LYST 1130 genome.wustl.edu 37 1 235907458 235907458 + Splice_Site SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000081.2 -1 reviewed e28-1 1.000 95 0% 30 43.3% - - - - - - LYST 1130 genome.wustl.edu 37 1 235969493 235969493 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000081.2 -1 reviewed p.F981L 0.891 110 0% 20 35% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL NID1 4811 genome.wustl.edu 37 1 236187400 236187400 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002508.2 -1 reviewed p.G700S 1.000 44 0% 32 43.8% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_2,superfamily_EGF/Laminin NID1 4811 genome.wustl.edu 37 1 236192981 236192981 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002508.2 -1 reviewed p.R536Q 1.000 15 0% 15 40% - - benign(0.001) tolerated(0.43) neutral(0.013) HMMPfam_G2F,HMMSmart_SM00682,superfamily_GFP-like EDARADD 128178 genome.wustl.edu 37 1 236590728 236590728 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_145861.2 +1 reviewed p.R66Q 0.036 76 0% 81 32.1% - - benign(0) tolerated(0.26) neutral(0.034) NULL LGALS8 3964 genome.wustl.edu 37 1 236702362 236702362 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006499.3 +1 reviewed p.V106 0.092 151 0% 125 29.6% - - - - - HMMPfam_Gal-bind_lectin,HMMSmart_GLECT,superfamily_ConA_like_lec_gl HEATR1 55127 genome.wustl.edu 37 1 236723049 236723049 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018072.4 -1 validated p.A1579T 0.998 82 0% 31 29% - - possibly_damaging(0.95) tolerated(0.14) deleterious(0.643) superfamily_ARM-type_fold HEATR1 55127 genome.wustl.edu 37 1 236749749 236749749 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018072.4 -1 validated p.Y573 0.198 116 0% 36 25% - - - - - NULL HEATR1 55127 genome.wustl.edu 37 1 236762843 236762843 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018072.4 -1 validated p.V147 0.997 178 0% 85 37.6% - - - - - NULL MTR 4548 genome.wustl.edu 37 1 237052485 237052485 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000254.2 +1 reviewed p.K952 1.000 94 0% 63 33.3% - - - - - superfamily_Methionine synthase activation domain-like MTR 4548 genome.wustl.edu 37 1 237057733 237057733 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000254.2 +1 reviewed p.R1094H 0.000 117 0% 101 32.7% - - benign(0.095) tolerated(0.08) neutral(0.307) HMMPfam_Met_synt_B12,superfamily_Methionine synthase activation domain-like RYR2 6262 genome.wustl.edu 37 1 237586435 237586435 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001035.2 +1 reviewed p.R298C 0.940 102 0% 26 46.2% - - probably_damaging(0.99) - - HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMSmart_SM00472 RYR2 6262 genome.wustl.edu 37 1 237664113 237664113 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001035.2 +1 reviewed p.R769Q 1.000 278 0% 124 40.3% - - probably_damaging(0.985) - - HMMPfam_SPRY,HMMSmart_SM00449 RYR2 6262 genome.wustl.edu 37 1 237754292 237754292 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001035.2 +1 reviewed p.R1387I 1.000 67 0% 34 44.1% - - benign(0.068) - - NULL RYR2 6262 genome.wustl.edu 37 1 237774249 237774249 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001035.2 +1 reviewed p.P1624H 0.997 101 0% 58 34.5% - - probably_damaging(1) - - NULL RYR2 6262 genome.wustl.edu 37 1 237778120 237778120 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001035.2 +1 reviewed p.L1898 1.000 44 0% 13 53.8% - - - - - NULL CHRM3 1131 genome.wustl.edu 37 1 240071825 240071825 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000740.2 +1 reviewed p.G358 0.999 24 0% 10 40% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 FMN2 56776 genome.wustl.edu 37 1 240370853 240370853 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020066.4 +1 validated p.P914H 0.366 49 0% 89 34.8% - - unknown(0) deleterious(0) - HMMSmart_FH2,HMMPfam_Drf_FH1 FH 2271 genome.wustl.edu 37 1 241661167 241661167 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000143.2 -1 reviewed p.D498 0.989 183 0% 59 40.7% - - - - - superfamily_L-aspartase-like,HMMPfam_FumaraseC_C FH 2271 genome.wustl.edu 37 1 241671937 241671937 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000143.2 -1 reviewed p.H235R 1.000 90 0% 39 38.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Lyase_1,superfamily_L-aspartase-like KMO 8564 genome.wustl.edu 37 1 241731870 241731870 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003679.3 +1 validated p.H294N 1.000 364 0% 89 28.1% - - benign(0.175) tolerated(0.26) neutral(0.050) superfamily_FAD/NAD(P)-binding domain KMO 8564 genome.wustl.edu 37 1 241752099 241752099 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000366555 +1 known p.D41N 0.695 294 0% 98 36.7% - - - - - NULL CHML 1122 genome.wustl.edu 37 1 241797474 241797474 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001821.3 -1 reviewed p.P532L 0.057 125 0% 77 27.3% - - benign(0.177) tolerated(0.18) neutral(0.073) HMMPfam_GDI,superfamily_FAD/NAD(P)-binding domain,superfamily_FAD-linked reductases C-terminal domain CHML 1122 genome.wustl.edu 37 1 241797582 241797582 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001821.3 -1 reviewed p.S496Y 1.000 109 0% 78 23.1% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_GDI,superfamily_FAD/NAD(P)-binding domain,superfamily_FAD-linked reductases C-terminal domain WDR64 128025 genome.wustl.edu 37 1 241951227 241951227 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144625.4 +1 validated p.D471Y 0.992 248 0% 112 37.5% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL CEP170 9859 genome.wustl.edu 37 1 243349594 243349594 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000336415 -1 known p.S315Y 0.955 276 0% 100 25% - - - - - NULL ZNF238 10472 genome.wustl.edu 37 1 244217715 244217715 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_205768.2 +1 validated p.H213 1.000 35 0% 45 11.1% - - - - - NULL ZNF238 10472 genome.wustl.edu 37 1 244218356 244218356 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_205768.2 +1 validated p.T427I 1.000 42 0% 44 31.8% - - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 C1orf100 200159 genome.wustl.edu 37 1 244552323 244552323 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001012970.1 +1 predicted p.C132 0.001 115 0% 104 36.5% - - - - - NULL ADSS 159 genome.wustl.edu 37 1 244574619 244574619 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001126.2 -1 reviewed p.R430* 1.000 230 0% 107 27.1% - - - - - HMMPfam_Adenylsucc_synt,HMMSmart_SM00788,superfamily_P-loop containing nucleoside triphosphate hydrolases PPPDE1 51029 genome.wustl.edu 37 1 244868995 244868995 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016076.3 +1 validated p.L163 1.000 51 0% 51 13.7% - - - - - NULL HNRNPU-AS1 284702 genome.wustl.edu 37 1 245005679 245005679 + RNA SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NR_026778.1 -1 predicted NULL 0.000 103 0% 69 37.7% - - - - - - HNRNPU 3192 genome.wustl.edu 37 1 245019248 245019248 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031844.2 -1 reviewed p.R709C 0.995 256 0% 168 10.7% - - unknown(0) deleterious(0) - NULL HNRNPU 3192 genome.wustl.edu 37 1 245021577 245021577 + Splice_Site SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031844.2 -1 reviewed e7-1 1.000 61 0% 55 40% - - - - - - KIF26B 55083 genome.wustl.edu 37 1 245849424 245849424 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018012.3 +1 provisional p.R1047W 0.999 15 0% 36 19.4% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL KIF26B 55083 genome.wustl.edu 37 1 245849897 245849897 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018012.3 +1 provisional p.S1204 0.020 17 0% 52 36.5% - - - - - NULL KIF26B 55083 genome.wustl.edu 37 1 245850832 245850832 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018012.3 +1 provisional p.A1516V 0.805 44 0% 63 27% - - benign(0.129) tolerated(0.32) neutral(0.035) NULL CNST 163882 genome.wustl.edu 37 1 246810533 246810533 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152609.2 +1 validated p.V344M 0.000 18 0% 27 40.7% - - benign(0.002) tolerated(0.26) neutral(0.034) NULL SCCPDH 51097 genome.wustl.edu 37 1 246923514 246923514 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016002.2 +1 validated p.G325 0.998 156 0% 86 38.4% - - - - - HMMPfam_Saccharop_dh AHCTF1 25909 genome.wustl.edu 37 1 247004236 247004236 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015446.4 -1 validated p.A2225T 0.998 173 0% 75 53.3% - - benign(0.323) tolerated(0.06) neutral(0.423) NULL AHCTF1 25909 genome.wustl.edu 37 1 247013129 247013129 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015446.4 -1 validated p.S2060* 0.001 528 0% 219 37% - - - - - NULL AHCTF1 25909 genome.wustl.edu 37 1 247051803 247051803 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015446.4 -1 validated p.D721N 1.000 108 0% 55 32.7% - - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) NULL AHCTF1 25909 genome.wustl.edu 37 1 247079624 247079624 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015446.4 -1 validated p.L65 0.975 85 0% 53 28.3% - - - - - NULL AHCTF1 25909 genome.wustl.edu 37 1 247081595 247081595 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015446.4 -1 validated p.D26 0.971 136 0% 43 41.9% - - - - - NULL ZNF670 93474 genome.wustl.edu 37 1 247201240 247201240 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033213.2 -1 validated p.C227 0.774 143 0% 145 31.7% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 LOC729806 729806 genome.wustl.edu 37 1 247362670 247362670 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002342180.1 -1 model p.R234I 0.007 174 0% 57 31.6% - - - - - NULL ZNF496 84838 genome.wustl.edu 37 1 247473645 247473645 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032752.1 -1 provisional p.Y255 0.079 66 0% 75 36% - - - - - HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box OR2B11 127623 genome.wustl.edu 37 1 247614654 247614654 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001004492.1 -1 provisional p.V211M 0.735 97 1% 115 15.7% - - possibly_damaging(0.86) deleterious(0) deleterious(0.777) HMMPfam_7tm_1,superfamily_SSF81321 OR2L8 391190 genome.wustl.edu 37 1 248112791 248112791 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001001963.1 +1 provisional p.I211S 0.000 338 0.3% 90 32.2% - - benign(0.002) tolerated(1) - HMMPfam_7tm_1,superfamily_SSF81321 OR2L13 284521 genome.wustl.edu 37 1 248263078 248263078 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_175911.2 +1 provisional p.R134H 0.003 198 0% 68 39.7% - - benign(0.003) deleterious(0.02) neutral(0.383) HMMPfam_7tm_1,superfamily_SSF81321 OR2M5 127059 genome.wustl.edu 37 1 248308905 248308905 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001004690.1 +1 provisional p.G152 0.000 424 0% 161 37.9% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR2M2 391194 genome.wustl.edu 37 1 248343627 248343627 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001004688.1 +1 provisional p.L114I 0.000 379 0% 184 36.4% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 OR2T33 391195 genome.wustl.edu 37 1 248437097 248437097 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001004695.1 -1 provisional p.T7I 0.026 190 0% 65 26.2% - - probably_damaging(0.998) deleterious(0.04) deleterious(0.823) superfamily_Family A G protein-coupled receptor-like OR2T12 127064 genome.wustl.edu 37 1 248458870 248458870 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001004692.1 -1 provisional p.R4I 0.000 135 0% 61 44.3% - - benign(0.045) tolerated(0.32) neutral(0.026) superfamily_SSF81321 OR14C36 127066 genome.wustl.edu 37 1 248512706 248512706 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001001918.1 +1 provisional p.I210 0.001 341 0% 96 9.4% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR2T1 26696 genome.wustl.edu 37 1 248569380 248569380 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030904.1 +1 provisional p.L29V 0.002 154 0.6% 34 14.7% - - benign(0.35) - - NULL OR14I1 401994 genome.wustl.edu 37 1 248844810 248844810 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001004734.1 -1 provisional p.S266P 0.000 91 0% 92 19.6% - - benign(0.001) tolerated(0.12) neutral(0.261) HMMPfam_7tm_1,superfamily_SSF81321 SH3BP5L 80851 genome.wustl.edu 37 1 249111056 249111056 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030645.1 -1 provisional p.S71G 1.000 114 0% 156 32.1% - - benign(0.253) tolerated(0.14) neutral(0.276) HMMPfam_SH3BP5 SH3BP5L 80851 genome.wustl.edu 37 1 249118990 249118990 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030645.1 -1 provisional p.S49P 0.996 183 0% 269 38.7% - - possibly_damaging(0.733) tolerated(0.08) deleterious(0.568) NULL SH3BP5L 80851 genome.wustl.edu 37 1 249119038 249119038 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030645.1 -1 provisional p.A33T 0.001 152 0% 217 35% - - benign(0.007) tolerated(0.19) neutral(0.050) NULL ZNF692 55657 genome.wustl.edu 37 1 249151677 249151677 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001136036.1 -1 provisional p.P82 0.760 36 0% 79 45.6% - - - - - NULL PGBD2 267002 genome.wustl.edu 37 1 249212392 249212392 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_170725.2 +1 validated p.R537* 0.001 84 0% 73 31.5% - - - - - NULL TMEM18 129787 genome.wustl.edu 37 2 672823 672823 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152834.2 -1 validated p.A73D 0.999 62 0% 105 36.2% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL PXDN 7837 genome.wustl.edu 37 2 1664718 1664718 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012293.1 -1 validated p.R591H 1.000 90 0% 121 38% - - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin PXDN 7837 genome.wustl.edu 37 2 1687500 1687500 + Splice_Site SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012293.1 -1 validated e6-1 1.000 63 0% 103 33% - - - - - - MYT1L 23040 genome.wustl.edu 37 2 1906994 1906994 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015025.2 -1 validated p.P628 0.924 188 0% 226 35.4% - - - - - HMMPfam_MYT1 RPS7 6201 genome.wustl.edu 37 2 3627755 3627755 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001011.3 +1 reviewed p.E138K 1.000 183 0% 230 43.5% - - probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_Ribosomal_S7e SOX11 6664 genome.wustl.edu 37 2 5833043 5833043 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003108.3 +1 reviewed p.R64C 1.000 25 0% 50 32% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HMG_box,HMMSmart_HMG,superfamily_HMG-box ADAM17 6868 genome.wustl.edu 37 2 9658310 9658310 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003183.4 -1 reviewed p.D342Y 1.000 75 0% 43 32.6% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" NOL10 79954 genome.wustl.edu 37 2 10808807 10808807 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024894.2 -1 validated p.L169 1.000 147 0% 60 21.7% - - - - - HMMSmart_SM00320,superfamily_C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase C2orf50 130813 genome.wustl.edu 37 2 11273642 11273642 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182500.2 +1 validated p.A61V 0.002 12 0% 12 58.3% - - benign(0.004) tolerated(0.18) neutral(0.056) NULL ROCK2 9475 genome.wustl.edu 37 2 11332727 11332727 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004850.3 -1 reviewed p.L1267F 1.000 111 0% 47 36.2% - - possibly_damaging(0.771) tolerated(0.07) deleterious(0.605) HMMSmart_SM00233,HMMPfam_C1_1,HMMSmart_SM00109,superfamily_PH domain-like,superfamily_Cysteine-rich domain LOC650157 650157 genome.wustl.edu 37 2 11491955 11491955 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_001129774.2 +1 model p.T68M 1.000 45 0% 47 34% - - - - - HMMPfam_Pro_isomerase,superfamily_Cyclophilin-like GREB1 9687 genome.wustl.edu 37 2 11718512 11718512 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014668.3 +1 reviewed p.V243I 0.000 53 0% 59 40.7% - - benign(0.002) tolerated(0.5) neutral(0.010) NULL GREB1 9687 genome.wustl.edu 37 2 11751081 11751081 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014668.3 +1 reviewed p.E978D 0.940 9 0.000 11 0.636 - - benign(0) tolerated(0.57) neutral(0.006) NULL LPIN1 23175 genome.wustl.edu 37 2 11964789 11964789 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_145693.1 +1 reviewed p.V849I 1.000 151 0% 90 31.1% - - benign(0.002) tolerated(0.11) neutral(0.272) NULL TRIB2 28951 genome.wustl.edu 37 2 12880833 12880833 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021643.3 +1 reviewed p.S315 0.735 112 0% 49 46.9% - - - - - superfamily_Protein kinase-like (PK-like) NBAS 51594 genome.wustl.edu 37 2 15496480 15496480 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015909.2 -1 validated p.R1293H 0.609 151 0% 62 41.9% - - benign(0.167) tolerated(0.21) neutral(0.059) HMMPfam_Sec39 NBAS 51594 genome.wustl.edu 37 2 15564496 15564496 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015909.2 -1 validated p.E840D 0.124 195 0% 52 32.7% - - possibly_damaging(0.568) tolerated(1) neutral(0.195) HMMPfam_Sec39 FAM49A 81553 genome.wustl.edu 37 2 16743401 16743401 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030797.3 -1 validated p.L103I 1.000 139 0% 30 43.3% - - benign(0.309) tolerated(0.23) neutral(0.138) HMMPfam_DUF1394 RAD51AP2 729475 genome.wustl.edu 37 2 17697135 17697135 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001099218.2 -1 provisional p.V850I 0.000 115 0% 98 14.3% - - benign(0) tolerated(0.83) neutral(0.001) NULL RAD51AP2 729475 genome.wustl.edu 37 2 17697676 17697676 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001099218.2 -1 provisional p.S669 0.000 50 0% 37 40.5% - - - - - NULL RAD51AP2 729475 genome.wustl.edu 37 2 17698003 17698003 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001099218.2 -1 provisional p.K560N 0.004 36 0% 39 43.6% - - benign(0.024) tolerated(0.38) neutral(0.019) NULL SMC6 79677 genome.wustl.edu 37 2 17884432 17884432 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001142286.1 -1 validated p.E712K 1.000 155 0% 28 25% - - benign(0.001) tolerated(0.89) - HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases GEN1 348654 genome.wustl.edu 37 2 17946166 17946166 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001130009.1 +1 validated p.C117* 1.000 173 0% 69 33.3% - - - - - superfamily_PIN domain-like NT5C1B 93034 genome.wustl.edu 37 2 18745311 18745311 + Silent SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000418427 -1 known p.L183V 0.507 89 0% 106 30.2% - - - - - HMMPfam_5-nucleotidase WDR35 57539 genome.wustl.edu 37 2 20153638 20153638 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001006657.1 -1 reviewed p.E464* 1.000 203 0.5% 130 39.2% - - - - - superfamily_WD40 repeat-like APOB 338 genome.wustl.edu 37 2 21228516 21228516 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000384.2 -1 reviewed p.S3742A 0.231 67 0% 19 26.3% - - benign(0.066) - - NULL APOB 338 genome.wustl.edu 37 2 21230434 21230434 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000384.2 -1 reviewed p.F3102L 0.998 134 0% 69 34.8% - - probably_damaging(0.982) - - NULL APOB 338 genome.wustl.edu 37 2 21233203 21233203 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000384.2 -1 reviewed p.I2179M 0.998 101 0% 34 44.1% - - probably_damaging(0.991) - - NULL C2orf44 80304 genome.wustl.edu 37 2 24262125 24262125 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025203.2 -1 validated p.Q80H 1.000 99 0% 58 37.9% - - possibly_damaging(0.922) deleterious(0.02) deleterious(0.754) NULL NCOA1 8648 genome.wustl.edu 37 2 24949550 24949550 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003743.4 +1 reviewed p.A898T 0.561 130 0% 66 37.9% - - benign(0) tolerated(0.32) neutral(0.024) NULL ADCY3 109 genome.wustl.edu 37 2 25065244 25065244 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004036.3 -1 reviewed p.M279V 1.000 157 0% 291 34% - - benign(0.007) tolerated(0.18) neutral(0.056) HMMSmart_CYCc POMC 5443 genome.wustl.edu 37 2 25384042 25384042 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000939.2 -1 reviewed p.G238S 1.000 16 0% 57 40.4% - - possibly_damaging(0.907) deleterious(0) deleterious(0.805) HMMPfam_Op_neuropeptide POMC 5443 genome.wustl.edu 37 2 25384103 25384103 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000939.2 -1 reviewed p.D217 0.992 15 0% 43 46.5% - - - - - NULL ASXL2 55252 genome.wustl.edu 37 2 25964903 25964903 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018263.4 -1 validated p.R1435W 1.000 80 0% 55 41.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ASXL2 55252 genome.wustl.edu 37 2 25965156 25965156 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018263.4 -1 validated p.V1350 0.642 76 0% 52 42.3% - - - - - NULL ASXL2 55252 genome.wustl.edu 37 2 25976426 25976426 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018263.4 -1 validated p.F373L 1.000 219 0% 105 33.3% - - unknown(0) deleterious(0.01) - NULL ASXL2 55252 genome.wustl.edu 37 2 25990493 25990493 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018263.4 -1 validated p.L245S 1.000 161 0% 94 47.9% - - probably_damaging(0.996) tolerated(0.45) deleterious(0.474) NULL KIF3C 3797 genome.wustl.edu 37 2 26204707 26204707 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002254.6 -1 validated p.A27V 1.000 13 0% 24 25% - - benign(0.005) tolerated(0.27) neutral(0.034) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases FAM59B 150946 genome.wustl.edu 37 2 26409134 26409134 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000380681 +1 known p.S615I 0.967 25 0% 57 35.1% - - benign(0.016) tolerated(0.13) neutral(0.253) NULL OTOF 9381 genome.wustl.edu 37 2 26683875 26683875 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_194248.2 -1 reviewed p.R1853 1.000 15 0% 47 42.6% - - - - - HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) OTOF 9381 genome.wustl.edu 37 2 26688623 26688623 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_194248.2 -1 reviewed p.L1572 1.000 139 0% 213 38% - - - - - HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) OTOF 9381 genome.wustl.edu 37 2 26695503 26695503 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_194248.2 -1 reviewed p.R1250C 0.915 38 0% 83 49.4% - - benign(0.165) tolerated(0.07) neutral(0.334) NULL OTOF 9381 genome.wustl.edu 37 2 26696405 26696405 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_194248.2 -1 reviewed p.R1147W 1.000 36 0% 76 38.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_C2 domain (Calcium/lipid-binding domain CaLB) OTOF 9381 genome.wustl.edu 37 2 26703710 26703710 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_194248.2 -1 reviewed p.P583S 1.000 21 0% 35 37.1% - - benign(0.025) tolerated(0.46) neutral(0.013) NULL C2orf18 54978 genome.wustl.edu 37 2 27001109 27001109 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017877.3 +1 validated p.S282 0.809 80 0% 96 33.3% - - - - - NULL DPYSL5 56896 genome.wustl.edu 37 2 27165525 27165525 + Silent SNP C C T rs141571173 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020134.3 +1 validated p.N449 0.502 25 0% 29 34.5% - - - - - NULL EMILIN1 11117 genome.wustl.edu 37 2 27303606 27303606 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007046.3 +1 reviewed p.R99 0.966 19 0% 39 25.6% - - - - - HMMPfam_EMI EMILIN1 11117 genome.wustl.edu 37 2 27306360 27306360 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007046.3 +1 reviewed p.Q641K 0.824 24 0% 54 35.2% - - benign(0.001) tolerated(0.89) - NULL SLC30A3 7781 genome.wustl.edu 37 2 27478261 27478261 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003459.4 -1 validated p.F362L 1.000 73 0% 109 38.5% - - benign(0.3) tolerated(0.22) neutral(0.135) HMMPfam_Cation_efflux TRIM54 57159 genome.wustl.edu 37 2 27528637 27528637 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032546.2 +1 reviewed p.E307D 1.000 33 0% 46 41.3% - - possibly_damaging(0.643) tolerated(0.22) neutral(0.268) NULL PPM1G 5496 genome.wustl.edu 37 2 27607750 27607750 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_177983.1 -1 reviewed p.G205 1.000 156 0% 173 32.4% - - - - - HMMSmart_SM00332,superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMPfam_PP2C IFT172 26160 genome.wustl.edu 37 2 27688729 27688729 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015662.1 -1 validated p.E571D 1.000 263 0% 181 11% - - benign(0.086) tolerated(0.14) neutral(0.256) NULL C2orf16 84226 genome.wustl.edu 37 2 27800322 27800322 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032266.3 +1 validated p.P295S 0.008 89 0% 53 41.5% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL C2orf16 84226 genome.wustl.edu 37 2 27802497 27802497 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032266.3 +1 validated p.A1020T 0.001 120 0% 105 35.2% - - benign(0.004) tolerated(1) - NULL ZNF512 84450 genome.wustl.edu 37 2 27823658 27823658 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032434.2 +1 validated p.K186N 1.000 148 0% 121 35.5% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL PLB1 151056 genome.wustl.edu 37 2 28843191 28843191 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000404858 +1 known p.S1113Y 0.064 152 0% 105 46.7% - - - - - HMMPfam_Lipase_GDSL,superfamily_SGNH hydrolase SPDYA 245711 genome.wustl.edu 37 2 29052172 29052172 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001142634.1 +1 validated p.R180Q 1.000 105 0% 62 32.3% - - benign(0.027) tolerated(0.26) neutral(0.036) NULL TRMT61B 55006 genome.wustl.edu 37 2 29075289 29075289 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017910.3 -1 validated p.A357D 1.000 132 0% 87 34.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GCD14,superfamily_SSF53335 C2orf71 388939 genome.wustl.edu 37 2 29295283 29295283 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001029883.1 -1 provisional p.V615 0.998 60 0% 70 41.4% - - - - - NULL ALK 238 genome.wustl.edu 37 2 30142872 30142872 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004304.3 -1 reviewed p.Q218H 1.000 13 0% 26 42.3% - - benign(0) deleterious(0) neutral(0.445) NULL CAPN13 92291 genome.wustl.edu 37 2 30977201 30977201 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144575.2 -1 validated p.P299L 0.000 98 0% 74 37.8% - - benign(0.025) deleterious(0.05) neutral(0.346) HMMPfam_Peptidase_C2,HMMSmart_SM00230,superfamily_Cysteine proteinases GALNT14 79623 genome.wustl.edu 37 2 31178800 31178800 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024572.2 -1 validated p.C170 1.000 151 0% 114 36% - - - - - HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases CAPN14 440854 genome.wustl.edu 37 2 31397561 31397561 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001145122.1 -1 validated p.A681T 0.144 106 0% 45 40% - - benign(0) tolerated(1) - superfamily_EF-hand EHD3 30845 genome.wustl.edu 37 2 31489094 31489094 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014600.2 +1 validated p.L378M 1.000 73 0% 64 35.9% - - benign(0.01) tolerated(0.25) neutral(0.037) NULL EHD3 30845 genome.wustl.edu 37 2 31489315 31489315 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014600.2 +1 validated p.I451 1.000 97 0% 70 37.1% - - - - - HMMSmart_SM00027,superfamily_EF-hand XDH 7498 genome.wustl.edu 37 2 31562371 31562371 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000379.3 -1 reviewed p.A1253V 1.000 70 0% 56 33.9% - - probably_damaging(0.994) deleterious(0.02) deleterious(0.835) superfamily_Ald_xan_DH_mo_bd XDH 7498 genome.wustl.edu 37 2 31590879 31590879 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000379.3 -1 reviewed p.I715 0.003 254 0% 126 32.5% - - - - - HMMPfam_Ald_Xan_dh_C2,superfamily_Ald_xan_DH_mo_bd SPAST 6683 genome.wustl.edu 37 2 32353548 32353548 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014946.3 +1 reviewed p.Y415 0.982 210 0% 144 34.7% - - - - - HMMSmart_SM00382,HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases NLRC4 58484 genome.wustl.edu 37 2 32463314 32463314 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000360906 -1 known p.D803G 0.967 158 0% 75 40% - - possibly_damaging(0.898) tolerated(0.18) neutral(0.410) superfamily_RNI-like NLRC4 58484 genome.wustl.edu 37 2 32475156 32475156 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000360906 -1 known p.D593N 0.936 152 0.7% 96 40.6% - - possibly_damaging(0.68) tolerated(0.38) neutral(0.260) NULL NLRC4 58484 genome.wustl.edu 37 2 32475905 32475905 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000360906 -1 known p.I343T 0.994 116 0% 71 38% - - probably_damaging(0.99) tolerated(0.38) neutral(0.459) NULL NLRC4 58484 genome.wustl.edu 37 2 32477528 32477528 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000360906 -1 known p.K74N 0.853 85 0% 72 34.7% - - benign(0) deleterious(0.01) neutral(0.406) HMMPfam_CARD,superfamily_DEATH domain BIRC6 57448 genome.wustl.edu 37 2 32724666 32724666 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016252.3 +1 reviewed p.E2841* 1.000 158 0% 91 42.9% - - - - - NULL BIRC6 57448 genome.wustl.edu 37 2 32724960 32724960 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016252.3 +1 reviewed p.E2939K 1.000 127 0% 60 35% - - possibly_damaging(0.95) tolerated(0.09) deleterious(0.690) NULL BIRC6 57448 genome.wustl.edu 37 2 32726952 32726952 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016252.3 +1 reviewed p.R3068 1.000 111 0% 40 35% - - - - - NULL BIRC6 57448 genome.wustl.edu 37 2 32770835 32770835 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016252.3 +1 reviewed p.E4240* 1.000 244 0% 66 31.8% - - - - - NULL BIRC6 57448 genome.wustl.edu 37 2 32822950 32822950 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016252.3 +1 reviewed p.A4582D 1.000 167 0% 51 31.4% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_UQ_con,HMMSmart_SM00212,superfamily_UBC-like BIRC6 57448 genome.wustl.edu 37 2 32832646 32832646 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016252.3 +1 reviewed p.R4732Q 1.000 194 0% 110 33.6% - - probably_damaging(0.967) tolerated(0.38) neutral(0.426) HMMPfam_UQ_con,HMMSmart_SM00212,superfamily_UBC-like LTBP1 4052 genome.wustl.edu 37 2 33246091 33246091 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_206943.2 +1 reviewed p.S227 0.045 30 0% 15 46.7% - - - - - superfamily_EGF/Laminin RASGRP3 25780 genome.wustl.edu 37 2 33752306 33752306 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001139488.1 +1 validated p.V304L 1.000 76 0% 20 45% - - possibly_damaging(0.631) deleterious(0.01) deleterious(0.626) HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF CRIM1 51232 genome.wustl.edu 37 2 36706749 36706749 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016441.1 +1 provisional p.N428 0.067 99 0% 66 34.8% - - - - - HMMPfam_VWC,HMMSmart_VWC,PatternScan_VWFC_1 CRIM1 51232 genome.wustl.edu 37 2 36740849 36740849 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016441.1 +1 provisional p.P644L 1.000 60 0% 24 25% - - probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMPfam_VWC,HMMSmart_VWC,PatternScan_VWFC_1 VIT 5212 genome.wustl.edu 37 2 36986230 36986230 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000457137 +1 known p.S176 0.000 60 0% 35 45.7% - - - - - NULL VIT 5212 genome.wustl.edu 37 2 37008902 37008902 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_053276.3 +1 validated p.L279I 0.874 117 0% 72 38.9% - - benign(0.01) tolerated(0.23) neutral(0.042) NULL EIF2AK2 5610 genome.wustl.edu 37 2 37368752 37368752 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001135651.1 -1 validated p.K111N 0.700 135 0% 48 35.4% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_dsrm,HMMSmart_SM00358,superfamily_dsRNA-binding domain-like C2orf56 55471 genome.wustl.edu 37 2 37459346 37459346 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144736.4 +1 validated p.I51M 0.878 96 0% 155 17.4% - - possibly_damaging(0.873) deleterious(0.04) deleterious(0.688) NULL CDC42EP3 10602 genome.wustl.edu 37 2 37872975 37872975 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006449.3 -1 reviewed p.K252N 1.000 71 0% 41 34.1% - - probably_damaging(0.991) tolerated(0.28) deleterious(0.476) NULL LOC344382 344382 genome.wustl.edu 37 2 38044529 38044529 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_293026.6 +1 model p.L158I 1.000 347 0% 161 37.9% - - - - - HMMSmart_SM00320,superfamily_WD40 repeat-like CYP1B1-AS1 285154 genome.wustl.edu 37 2 38407828 38407828 + RNA SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NR_027252.1 +1 predicted NULL 0.000 171 0% 67 26.9% - - - - - - ATL2 64225 genome.wustl.edu 37 2 38526398 38526398 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001135673.1 -1 validated p.Q400H 1.000 22 0% 11 54.5% - - possibly_damaging(0.492) deleterious(0.01) deleterious(0.570) superfamily_Interferon-induced guanylate-binding protein 1 (GBP1) C-terminal domain ATL2 64225 genome.wustl.edu 37 2 38570504 38570504 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001135673.1 -1 validated p.R90Q 0.784 86 0% 34 50% - - possibly_damaging(0.518) tolerated(0.25) neutral(0.211) HMMPfam_GBP,superfamily_P-loop containing nucleoside triphosphate hydrolases GALM 130589 genome.wustl.edu 37 2 38956730 38956730 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138801.2 +1 reviewed p.D223N 1.000 86 0% 80 33.8% - - possibly_damaging(0.952) deleterious(0) deleterious(0.840) HMMPfam_Aldose_epim,superfamily_Galactose mutarotase-like SRSF7 6432 genome.wustl.edu 37 2 38976467 38976467 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000425778 -1 known p.S136 1.000 4 0.000 7 0.571 - - - - - NULL DHX57 90957 genome.wustl.edu 37 2 39029908 39029908 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000452978 -1 known p.R601C 0.889 134 0% 103 31.1% - - - - - NULL DHX57 90957 genome.wustl.edu 37 2 39053705 39053705 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000452978 -1 known p.R246* 0.253 177 0% 86 41.9% - - - - - HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases DHX57 90957 genome.wustl.edu 37 2 39089308 39089308 + Missense_Mutation SNP A A T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198963.1 -1 provisional p.F184Y 1.000 98 0% 30 40% - - possibly_damaging(0.464) tolerated(0.09) neutral(0.449) HMMPfam_UBA MAP4K3 8491 genome.wustl.edu 37 2 39553082 39553082 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003618.2 -1 reviewed p.K228T 1.000 106 0% 21 28.6% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase EML4 27436 genome.wustl.edu 37 2 42511826 42511826 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_019063.3 +1 validated p.V332M 1.000 257 0% 112 41.1% - - possibly_damaging(0.81) tolerated(0.17) neutral(0.364) HMMSmart_SM00320,superfamily_WD40 repeat-like MTA3 57504 genome.wustl.edu 37 2 42935167 42935167 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020744.2 +1 provisional p.E425D 0.996 141 0% 69 34.8% - - benign(0) tolerated(0.38) neutral(0.018) HMMSmart_ZnF_GATA LOC728819 728819 genome.wustl.edu 37 2 43902718 43902718 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001101330.1 -1 provisional p.I248 0.029 146 0% 199 32.7% - - - - - NULL PLEKHH2 130271 genome.wustl.edu 37 2 43937362 43937362 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_172069.3 +1 validated p.P703S 1.000 219 0% 122 39.3% - - possibly_damaging(0.485) tolerated(0.98) neutral(0.161) superfamily_PH domain-like ABCG8 64241 genome.wustl.edu 37 2 44078820 44078820 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022437.2 +1 reviewed p.S140 0.003 38 0% 60 38.3% - - - - - HMMPfam_ABC_tran,superfamily_P-loop containing nucleoside triphosphate hydrolases LRPPRC 10128 genome.wustl.edu 37 2 44145508 44145508 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_133259.3 -1 reviewed p.A976T 0.999 110 0% 34 38.2% - - possibly_damaging(0.767) deleterious(0.03) deleterious(0.649) HMMPfam_PPR,superfamily_SSF48452 SIX3 6496 genome.wustl.edu 37 2 45169813 45169813 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005413.3 +1 reviewed p.K190 1.000 10 0% 18 22.2% - - - - - NULL SIX2 10736 genome.wustl.edu 37 2 45233612 45233612 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016932.4 -1 reviewed p.E191D 0.998 33 0% 69 40.6% - - possibly_damaging(0.472) tolerated(0.29) neutral(0.185) superfamily_Homeodomain_like SRBD1 55133 genome.wustl.edu 37 2 45715466 45715466 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018079.4 -1 validated p.V627I 0.997 104 0% 42 40.5% - - benign(0.247) tolerated(0.18) neutral(0.081) HMMSmart_SM00732 SRBD1 55133 genome.wustl.edu 37 2 45826722 45826722 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018079.4 -1 validated p.D172N 0.998 364 0.5% 164 31.1% - - possibly_damaging(0.951) deleterious(0.04) deleterious(0.743) NULL SRBD1 55133 genome.wustl.edu 37 2 45829168 45829168 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018079.4 -1 validated p.K45N 1.000 205 0% 133 36.8% - - possibly_damaging(0.477) tolerated(0.07) deleterious(0.477) NULL PRKCE 5581 genome.wustl.edu 37 2 46411873 46411873 + Splice_Site SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005400.2 +1 reviewed e15-1 1.000 89 0% 76 27.6% - - - - - - EPAS1 2034 genome.wustl.edu 37 2 46605092 46605092 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001430.4 +1 reviewed p.P437S 0.991 34 0% 45 13.3% - - benign(0.116) tolerated(0.28) neutral(0.041) NULL EPAS1 2034 genome.wustl.edu 37 2 46605834 46605834 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001430.4 +1 reviewed p.N494 0.605 141 0% 157 38.2% - - - - - NULL EPAS1 2034 genome.wustl.edu 37 2 46607728 46607728 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001430.4 +1 reviewed p.W639* 1.000 26 0% 48 37.5% - - - - - NULL ATP6V1E2 90423 genome.wustl.edu 37 2 46739262 46739262 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_080653.3 -1 validated p.E197* 1.000 151 0% 97 42.3% - - - - - HMMPfam_vATP-synt_E SOCS5 9655 genome.wustl.edu 37 2 46985952 46985952 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014011.4 +1 reviewed p.E95K 1.000 111 0% 38 26.3% - - possibly_damaging(0.902) deleterious(0.01) deleterious(0.762) NULL MSH6 2956 genome.wustl.edu 37 2 48027998 48027998 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000179.2 +1 reviewed p.R959H 1.000 59 0% 22 22.7% - - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMSmart_SM00533,superfamily_DNA repair protein MutS domain III,HMMPfam_MutS_IV MSH6 2956 genome.wustl.edu 37 2 48030613 48030613 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000179.2 +1 reviewed p.R1076H 1.000 230 0% 59 28.8% - - probably_damaging(1) tolerated(0.55) deleterious(0.507) HMMPfam_MutS_V,HMMSmart_SM00533,superfamily_P-loop containing nucleoside triphosphate hydrolases LHCGR 3973 genome.wustl.edu 37 2 48915276 48915276 + Nonsense_Mutation SNP G G A rs121912524 TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000233.3 -1 reviewed p.R554* 1.000 118 0% 46 39.1% - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like FSHR 2492 genome.wustl.edu 37 2 49216149 49216149 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000145.3 -1 reviewed p.S164Y 1.000 195 0% 134 32.1% - - probably_damaging(0.987) deleterious(0) deleterious(0.881) superfamily_L domain-like NRXN1 9378 genome.wustl.edu 37 2 50699567 50699567 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001135659.1 -1 reviewed p.S1078F 1.000 154 0% 32 34.4% - - benign(0.388) tolerated(0.12) neutral(0.385) HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 NRXN1 9378 genome.wustl.edu 37 2 50765725 50765725 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001135659.1 -1 reviewed p.E643D 1.000 129 0% 28 42.9% - - benign(0.006) tolerated(0.79) neutral(0.001) HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 NRXN1 9378 genome.wustl.edu 37 2 50780016 50780016 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001135659.1 -1 reviewed p.F530V 1.000 223 0% 203 24.1% - - probably_damaging(0.997) tolerated(0.14) deleterious(0.716) superfamily_ConA_like_lec_gl NRXN1 9378 genome.wustl.edu 37 2 50850520 50850520 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001135659.1 -1 reviewed p.E389K 1.000 106 0% 21 28.6% - - probably_damaging(0.994) tolerated(0.43) neutral(0.466) HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 NRXN1 9378 genome.wustl.edu 37 2 51255159 51255159 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001135659.1 -1 reviewed p.R85C 0.809 11 0% 14 57.1% - - possibly_damaging(0.493) deleterious(0) deleterious(0.609) HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 ASB3 51130 genome.wustl.edu 37 2 53977983 53977983 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016115.3 -1 reviewed p.L98I 1.000 85 0% 34 32.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat TSPYL6 388951 genome.wustl.edu 37 2 54482763 54482763 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001003937.2 -1 validated p.E176K 0.003 46 0% 51 39.2% - - benign(0.009) tolerated(1) neutral(0.001) NULL SPTBN1 6711 genome.wustl.edu 37 2 54848576 54848576 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003128.2 +1 reviewed p.T268N 1.000 152 0% 73 35.6% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain SPTBN1 6711 genome.wustl.edu 37 2 54851967 54851967 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003128.2 +1 reviewed p.E403D 1.000 43 0% 44 50% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SPTBN1 6711 genome.wustl.edu 37 2 54853119 54853119 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003128.2 +1 reviewed p.H464 0.305 176 0% 105 36.2% - - - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SPTBN1 6711 genome.wustl.edu 37 2 54870248 54870248 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003128.2 +1 reviewed p.W1329* 1.000 97 0% 50 34% - - - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SPTBN1 6711 genome.wustl.edu 37 2 54873374 54873374 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003128.2 +1 reviewed p.D1543G 1.000 34 0% 25 28% - - possibly_damaging(0.494) tolerated(0.38) neutral(0.182) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat EML6 400954 genome.wustl.edu 37 2 55179807 55179807 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001039753.2 +1 validated p.N1430 0.995 64 0% 35 28.6% - - - - - HMMSmart_SM00320,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase EML6 400954 genome.wustl.edu 37 2 55184962 55184962 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001039753.2 +1 validated p.R1508C 1.000 48 0% 50 42% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00320,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase RTN4 57142 genome.wustl.edu 37 2 55253387 55253387 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020532.4 -1 reviewed p.M616I 1.000 77 0% 21 47.6% - - probably_damaging(0.98) deleterious(0) deleterious(0.869) NULL MTIF2 4528 genome.wustl.edu 37 2 55470612 55470612 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005369.1 -1 reviewed p.P502S 0.000 210 0% 80 46.3% - - benign(0) tolerated(0.72) neutral(0.002) superfamily_SSF52156 MTIF2 4528 genome.wustl.edu 37 2 55481925 55481925 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005369.1 -1 reviewed p.D123G 0.999 281 0% 102 19.6% - - possibly_damaging(0.825) tolerated(0.47) neutral(0.324) NULL CCDC88A 55704 genome.wustl.edu 37 2 55544796 55544796 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001135597.1 -1 validated p.R1168H 1.000 147 0% 45 33.3% - - possibly_damaging(0.798) tolerated(0.08) deleterious(0.601) NULL CCDC88A 55704 genome.wustl.edu 37 2 55561943 55561943 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001135597.1 -1 validated p.N672H 1.000 75 0% 43 34.9% - - possibly_damaging(0.789) tolerated(0.58) neutral(0.301) NULL CCDC88A 55704 genome.wustl.edu 37 2 55573453 55573453 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001135597.1 -1 validated p.S300L 1.000 136 0.7% 61 32.8% - - benign(0.055) tolerated(0.09) neutral(0.300) NULL CCDC85A 114800 genome.wustl.edu 37 2 56420025 56420025 + Missense_Mutation SNP C C G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080433.1 +1 provisional p.S230R 0.054 13 0% 36 33.3% - - possibly_damaging(0.677) tolerated(0.06) deleterious(0.564) NULL VRK2 7444 genome.wustl.edu 37 2 58373534 58373534 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001130480.1 +1 reviewed p.S369 0.296 374 0% 137 43.8% - - - - - NULL PAPOLG 64895 genome.wustl.edu 37 2 61009891 61009891 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022894.2 +1 reviewed p.F366L 0.998 131 0% 73 41.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PAP_RNA-bind,superfamily_PAP/Archaeal CCA-adding enzyme C-terminal domain REL 5966 genome.wustl.edu 37 2 61118895 61118895 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002908.2 +1 validated p.R30* 1.000 190 0% 85 28.2% - - - - - superfamily_P53_like_DNA_bnd,HMMPfam_RHD PUS10 150962 genome.wustl.edu 37 2 61236045 61236045 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144709.2 -1 validated p.D78Y 0.932 107 0.9% 60 26.7% - - benign(0.063) deleterious(0) neutral(0.449) NULL PEX13 5194 genome.wustl.edu 37 2 61259042 61259042 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002618.3 +1 reviewed p.R194Q 1.000 119 0% 50 40% - - probably_damaging(0.964) deleterious(0.04) deleterious(0.755) HMMPfam_Peroxin-13_N USP34 9736 genome.wustl.edu 37 2 61431442 61431442 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014709.3 -1 validated p.P3111 0.995 137 0% 65 49.2% - - - - - NULL FAM161A 84140 genome.wustl.edu 37 2 62067079 62067079 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032180.2 -1 validated p.R354* 0.004 127 0% 53 32.1% - - - - - HMMPfam_UPF0564 B3GNT2 10678 genome.wustl.edu 37 2 62449791 62449791 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006577.5 +1 reviewed p.L146 1.000 108 0% 71 23.9% - - - - - NULL OTX1 5013 genome.wustl.edu 37 2 63282759 63282759 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014562.2 +1 reviewed p.G125S 1.000 19 0% 34 55.9% - - probably_damaging(0.99) tolerated(0.19) deleterious(0.491) NULL OTX1 5013 genome.wustl.edu 37 2 63283118 63283118 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014562.2 +1 reviewed p.G244 0.995 41 0% 96 28.1% - - - - - HMMPfam_TF_Otx MDH1 4190 genome.wustl.edu 37 2 63832497 63832497 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005917.2 +1 reviewed p.H253 0.991 64 0% 51 31.4% - - - - - HMMPfam_Ldh_1_C,superfamily_LDH C-terminal domain-like ACTR2 10097 genome.wustl.edu 37 2 65488393 65488393 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005386.2 +1 reviewed p.R255C 1.000 191 0% 105 30.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain ETAA1 54465 genome.wustl.edu 37 2 67632300 67632300 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_019002.3 +1 validated p.S829Y 0.866 73 0% 42 42.9% - - probably_damaging(0.959) tolerated(0.05) deleterious(0.748) NULL ARHGAP25 9938 genome.wustl.edu 37 2 69034366 69034366 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000497259 +1 known p.H2Y 0.000 93 0% 50 28% - - unknown(0) - - NULL ENSG00000251850 0 genome.wustl.edu 37 2 69409060 69409060 + RNA SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000516041 -1 novel NULL 0.048 46 0% 34 26.5% - - - - - - GFPT1 2673 genome.wustl.edu 37 2 69590776 69590776 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002056.2 -1 reviewed p.E84* 1.000 191 0% 99 40.4% - - - - - HMMPfam_GATase_2,superfamily_SSF56235 GMCL1 64395 genome.wustl.edu 37 2 70070343 70070343 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178439.3 +1 provisional p.C214 1.000 192 0% 130 42.3% - - - - - NULL PCYOX1 51449 genome.wustl.edu 37 2 70502226 70502226 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016297.3 +1 validated p.E210D 1.000 128 0% 100 41% - - possibly_damaging(0.587) tolerated(0.38) neutral(0.220) HMMPfam_Prenylcys_lyase,superfamily_NAD(P)-binding Rossmann-fold domains,superfamily_FAD/NAD(P)-binding domain VAX2 25806 genome.wustl.edu 37 2 71160114 71160114 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012476.2 +1 reviewed p.S218F 0.115 26 0% 62 43.5% - - possibly_damaging(0.822) tolerated(0.07) deleterious(0.630) NULL ATP6V1B1 525 genome.wustl.edu 37 2 71185508 71185508 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001692.3 +1 reviewed p.E107K 1.000 72 0% 92 34.8% - - benign(0.005) tolerated(0.11) neutral(0.272) HMMPfam_ATP-synt_ab_N MPHOSPH10 10199 genome.wustl.edu 37 2 71360108 71360108 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005791.1 +1 reviewed p.R57M 0.000 44 0% 47 36.2% - - benign(0.107) tolerated(0.09) neutral(0.305) HMMPfam_Mpp10 DYSF 8291 genome.wustl.edu 37 2 71681147 71681147 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001130981.1 +1 reviewed p.L7F 1.000 30 0% 62 37.1% - - benign(0.204) tolerated(0.11) neutral(0.291) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB DYSF 8291 genome.wustl.edu 37 2 71797845 71797845 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001130987.1 +1 reviewed p.L1068I 1.000 69 0% 98 35.7% - - benign(0.001) tolerated(0.21) neutral(0.044) NULL DYSF 8291 genome.wustl.edu 37 2 71871127 71871127 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001130987.1 +1 reviewed p.F1520L 1.000 98 0% 82 52.4% - - benign(0.329) tolerated(0.29) neutral(0.132) NULL DYSF 8291 genome.wustl.edu 37 2 71908182 71908182 + Missense_Mutation SNP C C T rs149357145 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001130987.1 +1 reviewed p.R2039W 1.000 27 0% 40 15% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL DYSF 8291 genome.wustl.edu 37 2 71909728 71909728 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001130987.1 +1 reviewed p.R2081H 1.000 264 0% 228 38.6% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL EXOC6B 23233 genome.wustl.edu 37 2 72740271 72740271 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015189.1 -1 validated p.R386H 1.000 247 0% 64 31.2% - - benign(0.078) tolerated(0.05) neutral(0.351) NULL SPR 6697 genome.wustl.edu 37 2 73118535 73118535 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003124.4 +1 reviewed p.R219* 0.012 83 0% 106 12.3% - - - - - superfamily_NAD(P)-bd RAB11FIP5 26056 genome.wustl.edu 37 2 73315373 73315373 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015470.2 -1 validated p.R458H 1.000 22 0% 39 28.2% - - probably_damaging(0.994) deleterious(0.03) deleterious(0.817) NULL NOTO 344022 genome.wustl.edu 37 2 73437950 73437950 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001134462.1 +1 provisional p.L217 0.954 46 0% 76 32.9% - - - - - HMMSmart_SM00389,superfamily_Homeodomain-like CCT7 10574 genome.wustl.edu 37 2 73474911 73474911 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006429.3 +1 reviewed p.V214I 1.000 68 0% 38 31.6% - - possibly_damaging(0.86) tolerated(0.33) neutral(0.357) HMMPfam_Cpn60_TCP1,superfamily_GroEL equatorial domain-like,superfamily_GroEL apical domain-like,superfamily_GroEL-intermediate domain like FBXO41 150726 genome.wustl.edu 37 2 73492452 73492452 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080410.2 -1 validated p.G569R 0.976 13 0% 31 45.2% - - benign(0.087) tolerated(0.88) neutral(0.006) NULL FBXO41 150726 genome.wustl.edu 37 2 73492512 73492512 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080410.2 -1 validated p.D549N 0.999 21 0% 49 34.7% - - probably_damaging(0.998) tolerated(0.17) deleterious(0.533) NULL FBXO41 150726 genome.wustl.edu 37 2 73493650 73493650 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080410.2 -1 validated p.A417T 0.982 7 0.000 11 0.364 - - benign(0.014) tolerated(0.12) neutral(0.261) NULL FBXO41 150726 genome.wustl.edu 37 2 73493755 73493755 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080410.2 -1 validated p.A382T 1.000 8 0.000 17 0.471 - - benign(0.141) deleterious(0.02) neutral(0.395) NULL ALMS1 7840 genome.wustl.edu 37 2 73828450 73828450 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015120.4 +1 reviewed p.L4000 0.990 78 0% 42 47.6% - - - - - NULL C2orf78 388960 genome.wustl.edu 37 2 74040930 74040930 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080474.1 +1 predicted p.L142I 0.007 67 0% 82 15.9% - - benign(0.41) tolerated(0.26) neutral(0.167) NULL TET3 200424 genome.wustl.edu 37 2 74274034 74274034 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144993.1 +1 provisional p.Q195 0.798 23 0% 32 46.9% - - - - - NULL BOLA3 388962 genome.wustl.edu 37 2 74362731 74362731 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_212552.2 -1 validated p.P105S 1.000 320 0% 407 36.1% - - unknown(0) deleterious(0) - HMMPfam_BolA,superfamily_BolA MTHFD2 10797 genome.wustl.edu 37 2 74435777 74435777 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006636.3 +1 reviewed p.R164Q 1.000 401 0% 276 33.7% - - probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMPfam_THF_DHG_CYH_C,superfamily_NAD(P)-bd,superfamily_SSF53223 DCTN1 1639 genome.wustl.edu 37 2 74592682 74592682 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004082.3 -1 reviewed p.R997W 0.995 97 0% 125 37.6% - - probably_damaging(0.992) deleterious(0.01) deleterious(0.853) NULL RTKN 6242 genome.wustl.edu 37 2 74659598 74659598 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001015055.1 -1 reviewed p.R103W 0.989 23 0% 50 32% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL MOGS 7841 genome.wustl.edu 37 2 74689389 74689389 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006302.2 -1 reviewed p.H509 0.914 74 0% 169 39.1% - - - - - HMMPfam_Glyco_hydro_63,superfamily_Six-hairpin glycosidases HK2 3099 genome.wustl.edu 37 2 75106019 75106019 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000189.4 +1 reviewed p.V412 0.032 26 0% 43 30.2% - - - - - HMMPfam_Hexokinase_2,superfamily_SSF53067 GCFC2 6936 genome.wustl.edu 37 2 75917768 75917768 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003203.4 -1 validated p.R408* 1.000 115 0% 33 36.4% - - - - - HMMPfam_GCFC LRRTM4 80059 genome.wustl.edu 37 2 76975868 76975868 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001134745.1 -1 validated p.A576T 0.985 95 1.1% 69 31.9% - - possibly_damaging(0.837) deleterious(0.03) deleterious(0.684) NULL CTNNA2 1496 genome.wustl.edu 37 2 79971520 79971520 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004389.3 +1 validated p.T37I 1.000 72 0% 39 33.3% - - probably_damaging(0.974) deleterious(0.01) deleterious(0.822) HMMPfam_Vinculin CTNNA2 1496 genome.wustl.edu 37 2 80096961 80096961 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004389.3 +1 validated p.A162V 1.000 78 0% 55 34.5% - - benign(0.045) deleterious(0.02) neutral(0.386) HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin LRRTM1 347730 genome.wustl.edu 37 2 80530117 80530117 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178839.4 -1 validated p.F276 1.000 43 0% 88 42% - - - - - HMMPfam_LRR_1,superfamily_SSF52058 CTNNA2 1496 genome.wustl.edu 37 2 80801343 80801343 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004389.3 +1 validated p.N599 0.991 176 0% 51 15.7% - - - - - HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin DNAH6 1768 genome.wustl.edu 37 2 84864468 84864468 + Silent SNP G G A rs146868345 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001370.1 +1 validated p.A1596 0.003 122 0% 31 45.2% - - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH6 1768 genome.wustl.edu 37 2 84921574 84921574 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001370.1 +1 validated p.K2498 0.998 176 0% 68 30.9% - - - - - HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH6 1768 genome.wustl.edu 37 2 84932638 84932638 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001370.1 +1 validated p.L2832I 1.000 95 1.1% 37 32.4% - - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL DNAH6 1768 genome.wustl.edu 37 2 84972330 84972330 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001370.1 +1 validated p.S3490Y 0.433 136 0% 63 38.1% - - possibly_damaging(0.508) tolerated(0.5) neutral(0.180) HMMPfam_Dynein_heavy C2orf89 129293 genome.wustl.edu 37 2 85051165 85051165 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080824.1 -1 predicted p.E367K 0.000 148 1.4% 116 37.9% - - benign(0) tolerated(0.22) neutral(0.042) NULL KCMF1 56888 genome.wustl.edu 37 2 85280420 85280420 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020122.4 +1 validated p.A345V 1.000 59 0% 23 34.8% - - probably_damaging(0.98) deleterious(0) deleterious(0.869) NULL ATOH8 84913 genome.wustl.edu 37 2 85991242 85991242 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032827.6 +1 validated p.F299L 1.000 20 0% 41 34.1% - - possibly_damaging(0.495) tolerated(0.27) neutral(0.199) NULL POLR1A 25885 genome.wustl.edu 37 2 86302261 86302261 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015425.3 -1 validated p.D501 0.959 50 0% 52 36.5% - - - - - HMMPfam_RNA_pol_Rpb1_2,HMMSmart_SM00663,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase POLR1A 25885 genome.wustl.edu 37 2 86302316 86302316 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015425.3 -1 validated p.A483V 1.000 50 0% 57 14% - - probably_damaging(0.996) tolerated(0.2) deleterious(0.511) HMMPfam_RNA_pol_Rpb1_2,HMMSmart_SM00663,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase POLR1A 25885 genome.wustl.edu 37 2 86317021 86317021 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015425.3 -1 validated p.S155Y 0.001 197 0% 123 34.1% - - unknown(0) - - superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase KDM3A 55818 genome.wustl.edu 37 2 86682259 86682259 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018433.5 +1 reviewed p.E169* 1.000 171 0% 63 38.1% - - - - - NULL KDM3A 55818 genome.wustl.edu 37 2 86683973 86683973 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018433.5 +1 reviewed p.V243F 1.000 296 0% 83 32.5% - - possibly_damaging(0.843) tolerated(0.26) neutral(0.357) NULL SMYD1 150572 genome.wustl.edu 37 2 88387579 88387579 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198274.2 +1 provisional p.S171 0.001 32 0% 39 48.7% - - - - - HMMSmart_SET,superfamily_SSF82199 FABP1 2168 genome.wustl.edu 37 2 88424053 88424053 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001443.1 -1 reviewed p.I98T 0.999 137 0% 67 28.4% - - possibly_damaging(0.726) deleterious(0.04) deleterious(0.613) HMMPfam_Lipocalin,superfamily_Lipocalins EIF2AK3 9451 genome.wustl.edu 37 2 88870408 88870408 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004836.5 -1 reviewed p.Y990C 1.000 261 0% 74 33.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase RPIA 22934 genome.wustl.edu 37 2 88999546 88999546 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144563.2 +1 reviewed p.E122D 1.000 236 0% 106 39.6% - - benign(0.338) tolerated(0.28) neutral(0.138) superfamily_SSF100950 RPIA 22934 genome.wustl.edu 37 2 89035238 89035238 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144563.2 +1 reviewed p.V194M 1.000 153 0% 95 31.6% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Rib_5-P_isom_A,superfamily_SSF100950 IGKV1-5 28299 genome.wustl.edu 37 2 89247063 89247063 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000496168 -1 known p.S36F 0.000 257 0% 128 35.2% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin IGKV1D-43 28891 genome.wustl.edu 37 2 90249317 90249317 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000468879 +1 known p.T91 0.217 301 0% 79 45.6% - - - - - HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin PROM2 150696 genome.wustl.edu 37 2 95945633 95945633 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144707.2 +1 reviewed p.V439M 0.909 123 0% 201 36.3% - - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_Prominin PROM2 150696 genome.wustl.edu 37 2 95952596 95952596 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144707.2 +1 reviewed p.P695 0.003 71 0% 124 37.1% - - - - - HMMPfam_Prominin PROM2 150696 genome.wustl.edu 37 2 95954013 95954013 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144707.2 +1 reviewed p.R767C 0.958 58 0% 90 32.2% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Prominin GPAT2 150763 genome.wustl.edu 37 2 96689938 96689938 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_207328.2 -1 validated p.K606R 1.000 57 0% 95 30.5% - - benign(0.014) tolerated(0.81) neutral(0.001) NULL ADRA2B 151 genome.wustl.edu 37 2 96780905 96780905 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000409345 -1 known p.Q328H 0.999 41 0% 70 38.6% - - possibly_damaging(0.832) deleterious(0.05) deleterious(0.662) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ADRA2B 151 genome.wustl.edu 37 2 96781471 96781471 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000409345 -1 known p.A140T 1.000 39 0% 62 35.5% - - possibly_damaging(0.952) deleterious(0) deleterious(0.840) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like SNRNP200 23020 genome.wustl.edu 37 2 96942656 96942656 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014014.3 -1 reviewed p.P2054S 1.000 28 0% 29 41.4% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Sec63,HMMSmart_SM00611 SNRNP200 23020 genome.wustl.edu 37 2 96944582 96944582 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014014.3 -1 reviewed p.R1763H 1.000 194 0% 151 47.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SNRNP200 23020 genome.wustl.edu 37 2 96965087 96965087 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014014.3 -1 reviewed p.R237C 1.000 123 0% 95 37.9% - - benign(0.404) deleterious(0.04) deleterious(0.479) NULL SNRNP200 23020 genome.wustl.edu 37 2 96967376 96967376 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014014.3 -1 reviewed p.R154* 0.914 204 0% 211 13.3% - - - - - NULL NCAPH 23397 genome.wustl.edu 37 2 97024917 97024917 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015341.3 +1 reviewed p.R448M 0.998 122 0% 68 41.2% - - probably_damaging(0.984) deleterious(0.01) deleterious(0.836) HMMPfam_Barren FER1L5 90342 genome.wustl.edu 37 2 97327509 97327509 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001113382.1 +1 provisional p.C316 0.892 117 0% 74 52.7% - - - - - HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) FER1L5 90342 genome.wustl.edu 37 2 97355459 97355459 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001113382.1 +1 provisional p.G863 0.053 17 0% 22 36.4% - - - - - HMMSmart_SM00693 SEMA4C 54910 genome.wustl.edu 37 2 97526566 97526566 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017789.4 -1 validated p.G767C 0.999 33 0% 71 28.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL FAM178B 51252 genome.wustl.edu 37 2 97541832 97541832 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000305461 -1 known p.P138S 0.009 19 0% 23 34.8% - - - - - NULL ANKRD36 375248 genome.wustl.edu 37 2 97853095 97853095 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000461153 +1 known p.S700 0.001 197 0% 38 57.9% - - - - - NULL UBTFL6 643615 genome.wustl.edu 37 2 98253196 98253196 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_001714896.2 -1 model p.A352V 0.985 155 0% 62 32.3% - - - - - NULL UBTFL6 643615 genome.wustl.edu 37 2 98253527 98253527 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_001714896.2 -1 model p.D242N 1.000 39 0% 13 30.8% - - - - - HMMSmart_SM00398,superfamily_HMG-box UBTFL6 643615 genome.wustl.edu 37 2 98253905 98253905 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_001714896.2 -1 model p.R116C 1.000 89 0% 35 22.9% - - - - - HMMPfam_HMG_box,HMMSmart_SM00398,superfamily_HMG-box COX5B 1329 genome.wustl.edu 37 2 98263558 98263558 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001862.2 +1 reviewed p.A44 0.070 399 0% 434 39.4% - - - - - HMMPfam_COX5B,superfamily_Rubredoxin-like TMEM131 23505 genome.wustl.edu 37 2 98408993 98408993 + Missense_Mutation SNP G G A rs183353758 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015348.1 -1 validated p.R1334C 0.995 125 0% 100 28% - - benign(0) tolerated(0.11) neutral(0.272) NULL TMEM131 23505 genome.wustl.edu 37 2 98413914 98413914 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015348.1 -1 validated p.L928 0.154 72 0% 75 33.3% - - - - - NULL VWA3B 200403 genome.wustl.edu 37 2 98732125 98732125 + Silent SNP G G A rs146730095 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144992.4 +1 provisional p.A69 0.694 163 0% 83 27.7% - - unknown(0) - - NULL CNGA3 1261 genome.wustl.edu 37 2 99012788 99012788 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001298.2 +1 reviewed p.F385L 1.000 38 0% 29 20.7% - - probably_damaging(0.987) tolerated(0.29) neutral(0.466) HMMPfam_Ion_trans,superfamily_SSF81324 INPP4A 3631 genome.wustl.edu 37 2 99137182 99137182 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001134224.1 +1 reviewed p.E47* 1.000 113 0% 113 38.1% - - - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB) TSGA10 80705 genome.wustl.edu 37 2 99725409 99725409 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025244.2 -1 validated p.R33C 1.000 198 0% 75 34.7% - - benign(0.058) deleterious(0) neutral(0.448) NULL REV1 51455 genome.wustl.edu 37 2 100035344 100035344 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016316.2 -1 reviewed p.K633Q 1.000 301 0% 92 31.5% - - benign(0.02) tolerated(0.55) neutral(0.008) HMMPfam_IMS,superfamily_DNA/RNA polymerases TBC1D8 11138 genome.wustl.edu 37 2 101654967 101654967 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001102426.1 -1 validated p.A396T 0.879 62 0% 52 28.8% - - benign(0.048) tolerated(0.49) neutral(0.014) NULL CREG2 200407 genome.wustl.edu 37 2 102000099 102000099 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153836.3 -1 validated p.G169 0.058 107 0% 154 40.9% - - - - - superfamily_FMN_binding IL1R2 7850 genome.wustl.edu 37 2 102625093 102625093 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004633.3 +1 reviewed p.A19V 0.004 153 0% 102 42.2% - - benign(0) tolerated(0.24) neutral(0.037) NULL IL1R2 7850 genome.wustl.edu 37 2 102632420 102632420 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004633.3 +1 reviewed p.Q140H 0.003 206 0% 116 35.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_IG,superfamily_SSF48726 IL1R1 3554 genome.wustl.edu 37 2 102792131 102792131 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000409288 +1 known p.K443 0.002 196 0% 90 41.1% - - - - - NULL IL18RAP 8807 genome.wustl.edu 37 2 103040785 103040785 + Missense_Mutation SNP G G T rs150564503 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003853.2 +1 reviewed p.D164Y 0.000 170 0% 44 31.8% - - benign(0) tolerated(1) - HMMSmart_SM00409 SLC9A4 389015 genome.wustl.edu 37 2 103090325 103090325 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001011552.3 +1 validated p.S36F 0.004 168 0% 86 30.2% - - possibly_damaging(0.449) deleterious(0.05) deleterious(0.492) NULL SLC9A4 389015 genome.wustl.edu 37 2 103090413 103090413 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001011552.3 +1 validated p.D65E 0.057 107 0% 62 45.2% - - benign(0.014) tolerated(1) neutral(0.001) NULL FHL2 2274 genome.wustl.edu 37 2 106002940 106002940 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001039492.2 -1 reviewed p.E12K 1.000 57 0% 48 43.8% - - benign(0) tolerated(0.11) neutral(0.272) superfamily_Glucocorticoid receptor-like (DNA-binding domain) NCK2 8440 genome.wustl.edu 37 2 106497898 106497898 + Missense_Mutation SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001004720.2 +1 reviewed p.I114N 1.000 21 0% 23 34.8% - - benign(0.208) deleterious(0.01) neutral(0.426) HMMPfam_SH3_1,HMMSmart_SH3 UXS1 80146 genome.wustl.edu 37 2 106739451 106739451 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025076.3 -1 validated p.T240I 1.000 61 0% 54 35.2% - - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_Epimerase,superfamily_NAD(P)-binding Rossmann-fold domains RGPD3 653489 genome.wustl.edu 37 2 107040312 107040312 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001144013.1 -1 validated p.V1371I 0.204 245 0% 75 36% - - benign(0.083) tolerated(0.26) neutral(0.040) HMMPfam_Ran_BP1,HMMSmart_RanBD,superfamily_SSF50729 RGPD3 653489 genome.wustl.edu 37 2 107050726 107050726 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001144013.1 -1 validated p.K721N 1.000 746 0% 202 24.3% - - probably_damaging(0.958) tolerated(0.13) deleterious(0.654) NULL RGPD3 653489 genome.wustl.edu 37 2 107052983 107052983 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001144013.1 -1 validated p.H507 0.805 490 0.2% 185 27.6% - - - - - NULL RGPD3 653489 genome.wustl.edu 37 2 107069232 107069232 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001144013.1 -1 validated p.A186T 0.998 442 0% 218 14.2% - - benign(0.026) tolerated(0.6) neutral(0.005) superfamily_SSF48452 SULT1C4 27233 genome.wustl.edu 37 2 108998302 108998302 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006588.2 +1 reviewed p.R85Q 0.079 106 0% 53 30.2% - - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases GCC2 9648 genome.wustl.edu 37 2 109116061 109116061 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_181453.3 +1 reviewed p.S1612Y 1.000 1336 0% 515 18.3% - - probably_damaging(1) - - HMMPfam_GRIP,HMMSmart_Grip GCC2 9648 genome.wustl.edu 37 2 109116157 109116157 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_181453.3 +1 reviewed p.T1644M 1.000 788 0% 340 17.6% - - possibly_damaging(0.911) - - HMMPfam_GRIP,HMMSmart_Grip RANBP2 5903 genome.wustl.edu 37 2 109352196 109352196 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006267.4 +1 reviewed p.S205L 0.271 357 0% 219 33.8% - - unknown(0) - - superfamily_SSF48452 RANBP2 5903 genome.wustl.edu 37 2 109381824 109381824 + Frame_Shift_Del DEL G G - novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006267.4 +1 reviewed p.D1611fs 1.000 - - - - - - - - - HMMPfam_zf-RanBP,HMMSmart_ZnF_RBZ,PatternScan_ZF_RANBP2_1 RANBP2 5903 genome.wustl.edu 37 2 109383178 109383178 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006267.4 +1 reviewed p.K2061N 1.000 201 0% 66 28.8% - - probably_damaging(1) - - HMMPfam_Ran_BP1,HMMSmart_RanBD,superfamily_SSF50729 CCDC138 165055 genome.wustl.edu 37 2 109429304 109429304 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144978.1 +1 provisional p.R321I 0.998 146 0% 45 26.7% - - possibly_damaging(0.444) deleterious(0.01) deleterious(0.550) NULL EDAR 10913 genome.wustl.edu 37 2 109527248 109527248 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022336.3 -1 reviewed p.E238D 1.000 122 0% 166 33.1% - - probably_damaging(0.974) tolerated(0.15) deleterious(0.657) NULL SH3RF3 344558 genome.wustl.edu 37 2 110015330 110015330 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000309415 +1 known p.S410R 1.000 49 0% 78 39.7% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL SEPT10 151011 genome.wustl.edu 37 2 110301834 110301834 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000334001 -1 known p.K500N 0.953 96 0% 47 40.4% - - benign(0.002) deleterious(0) neutral(0.445) NULL SEPT10 151011 genome.wustl.edu 37 2 110332246 110332246 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144710.2 -1 reviewed p.R171H 1.000 164 0% 63 27% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Septin,superfamily_P-loop containing nucleoside triphosphate hydrolases ANAPC1 64682 genome.wustl.edu 37 2 112620057 112620057 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022662.2 -1 validated p.S391A 0.824 96 0% 56 12.5% - - benign(0) tolerated(0.51) neutral(0.009) NULL ANAPC1 64682 genome.wustl.edu 37 2 112622482 112622482 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022662.2 -1 validated p.M244I 1.000 167 0% 88 25% - - benign(0.001) tolerated(0.38) neutral(0.018) NULL ZC3H8 84524 genome.wustl.edu 37 2 112989460 112989460 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032494.2 -1 validated p.F266L 1.000 183 0% 95 9.5% - - probably_damaging(0.971) deleterious(0.01) deleterious(0.819) HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1 ZC3H6 376940 genome.wustl.edu 37 2 113067714 113067714 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198581.2 +1 validated p.Q197* 1.000 89 0% 21 38.1% - - - - - NULL CHCHD5 84269 genome.wustl.edu 37 2 113343594 113343594 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032309.2 +1 provisional p.L16M 0.993 32 0% 64 21.9% - - benign(0.107) tolerated(0.18) neutral(0.065) HMMPfam_CHCH SLC20A1 6574 genome.wustl.edu 37 2 113416970 113416970 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005415.3 +1 provisional p.R413K 1.000 124 0% 67 28.4% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_PHO4 PSD4 23550 genome.wustl.edu 37 2 113943775 113943775 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012455.2 +1 validated p.A524V 0.000 47 0% 40 25% - - benign(0) deleterious(0) neutral(0.445) NULL PSD4 23550 genome.wustl.edu 37 2 113950926 113950926 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012455.2 +1 validated p.P671S 1.000 70 0% 92 32.6% - - benign(0.037) deleterious(0.01) neutral(0.408) HMMPfam_Sec7,HMMSmart_SM00222,superfamily_Sec7 domain DPP10 57628 genome.wustl.edu 37 2 116573305 116573305 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020868.3 +1 validated p.K650N 1.000 204 0% 175 37.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_S9,superfamily_alpha/beta-Hydrolases DDX18 8886 genome.wustl.edu 37 2 118579628 118579628 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006773.3 +1 reviewed p.D314 1.000 161 0% 105 29.5% - - - - - HMMPfam_DEAD,HMMSmart_DEXDc,superfamily_SSF52540 CCDC93 54520 genome.wustl.edu 37 2 118758439 118758439 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_019044.3 -1 validated p.Q107 1.000 144 0% 59 33.9% - - - - - HMMPfam_KOG2701 SCTR 6344 genome.wustl.edu 37 2 120206329 120206329 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002980.2 -1 reviewed p.L317I 0.841 234 0% 179 31.8% - - benign(0.425) tolerated(1) neutral(0.138) HMMPfam_7tm_2,superfamily_Family A G protein-coupled receptor-like PCDP1 200373 genome.wustl.edu 37 2 120385289 120385289 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001029996.3 +1 validated p.F240S 0.037 86 0% 72 37.5% - - benign(0.01) deleterious(0.02) neutral(0.384) NULL EPB41L5 57669 genome.wustl.edu 37 2 120849184 120849184 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020909.3 +1 validated p.S366Y 1.000 155 0% 53 30.2% - - possibly_damaging(0.912) deleterious(0.01) deleterious(0.769) HMMPfam_FA,superfamily_PH domain-like CLASP1 23332 genome.wustl.edu 37 2 122216504 122216504 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015282.2 -1 validated p.A409V 1.000 80 0% 28 46.4% - - benign(0.121) tolerated(0.21) neutral(0.053) superfamily_ARM repeat CLASP1 23332 genome.wustl.edu 37 2 122218767 122218767 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015282.2 -1 validated p.I314M 1.000 138 0% 38 44.7% - - probably_damaging(0.958) deleterious(0) deleterious(0.846) superfamily_ARM repeat CNTNAP5 129684 genome.wustl.edu 37 2 125261921 125261921 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_130773.2 +1 reviewed p.V371A 0.999 184 0% 51 29.4% - - benign(0.002) tolerated(0.28) neutral(0.032) superfamily_ConA_like_lec_gl CNTNAP5 129684 genome.wustl.edu 37 2 125262005 125262005 + Missense_Mutation SNP A A T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_130773.2 +1 reviewed p.N399I 1.000 122 0% 30 43.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 CNTNAP5 129684 genome.wustl.edu 37 2 125262009 125262009 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_130773.2 +1 reviewed p.K400N 0.521 124 0% 31 29% - - benign(0.008) tolerated(0.14) neutral(0.249) HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 MAP3K2 10746 genome.wustl.edu 37 2 128079624 128079624 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006609.3 -1 reviewed p.R348H 1.000 159 0% 75 41.3% - - possibly_damaging(0.836) deleterious(0.02) deleterious(0.703) superfamily_Protein kinase-like (PK-like) IWS1 55677 genome.wustl.edu 37 2 128238661 128238661 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017969.2 -1 validated p.A807T 1.000 221 0% 117 29.1% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_IWS1_C GPR17 2840 genome.wustl.edu 37 2 128409020 128409020 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005291.2 +1 validated p.I265 1.000 50 0% 107 33.6% - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like SAP130 79595 genome.wustl.edu 37 2 128774084 128774084 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024545.3 -1 validated p.A155D 1.000 169 0% 122 12.3% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL UGGT1 56886 genome.wustl.edu 37 2 128886725 128886725 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020120.3 +1 validated p.A450V 0.999 151 0% 101 37.6% - - benign(0.028) tolerated(0.1) neutral(0.288) NULL POTEF 728378 genome.wustl.edu 37 2 130872495 130872495 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001099771.2 -1 validated p.A257T 0.023 714 0.1% 421 25.2% - - benign(0.011) tolerated(0.4) neutral(0.017) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK CCDC115 84317 genome.wustl.edu 37 2 131098487 131098487 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032357.2 -1 provisional p.R142W 0.968 51 0% 81 43.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PTPN18 26469 genome.wustl.edu 37 2 131128791 131128791 + Missense_Mutation SNP A A T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014369.3 +1 reviewed p.D315V 0.001 117 0% 223 35.4% - - benign(0.255) tolerated(0.41) neutral(0.041) NULL LOC653269 653269 genome.wustl.edu 37 2 131258127 131258127 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_928585.2 -1 model p.A300V 0.000 445 0% 136 21.3% - - possibly_damaging(0.94) deleterious(0.05) deleterious(0.730) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat LOC653781 653781 genome.wustl.edu 37 2 131377694 131377694 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_929706.3 +1 model p.A259V 0.013 313 0% 88 39.8% - - possibly_damaging(0.748) deleterious(0) deleterious(0.719) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat ARHGEF4 50649 genome.wustl.edu 37 2 131801890 131801890 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015320.2 +1 reviewed p.V540M 0.984 28 0% 46 34.8% - - benign(0.058) tolerated(0.28) neutral(0.035) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like POTEE 445582 genome.wustl.edu 37 2 132021792 132021792 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001083538.1 +1 validated p.D922Y 1.000 160 0% 123 12.2% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain TUBA3D 113457 genome.wustl.edu 37 2 132238158 132238158 + Missense_Mutation SNP C C G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_080386.2 +1 validated p.P298A 1.000 173 0% 260 40.8% - - possibly_damaging(0.604) deleterious(0) deleterious(0.654) superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C CCDC74A 90557 genome.wustl.edu 37 2 132285757 132285757 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138770.1 +1 provisional p.H72N 1.000 36 0% 99 27.3% - - possibly_damaging(0.737) deleterious(0) deleterious(0.714) NULL ZNF806 646915 genome.wustl.edu 37 2 133076150 133076150 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_001724242.2 +1 model p.R537 0.999 261 0% 81 18.5% - - - - - superfamily_SSF57667 GPR39 2863 genome.wustl.edu 37 2 133174706 133174706 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001508.2 +1 validated p.I31V 1.000 102 0% 127 45.7% - - benign(0.393) tolerated(1) neutral(0.126) superfamily_Family A G protein-coupled receptor-like MGAT5 4249 genome.wustl.edu 37 2 135012058 135012058 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002410.3 +1 validated p.M28I 1.000 171 0.6% 70 40% - - possibly_damaging(0.891) tolerated(0.18) neutral(0.406) NULL TMEM163 81615 genome.wustl.edu 37 2 135470809 135470809 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030923.4 -1 validated p.S95P 1.000 133 0% 143 36.4% - - probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL ACMSD 130013 genome.wustl.edu 37 2 135596260 135596260 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138326.2 +1 validated p.I3S 1.000 153 0% 79 29.1% - - probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_Amidohydro_2,superfamily_Metallo-dependent hydrolases ACMSD 130013 genome.wustl.edu 37 2 135625230 135625230 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138326.2 +1 validated p.P190S 1.000 225 0% 199 43.2% - - probably_damaging(0.958) tolerated(0.23) neutral(0.443) HMMPfam_Amidohydro_2,superfamily_Metallo-dependent hydrolases ACMSD 130013 genome.wustl.edu 37 2 135630104 135630104 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138326.2 +1 validated p.A248T 1.000 123 0% 51 33.3% - - probably_damaging(0.999) tolerated(0.14) deleterious(0.740) HMMPfam_Amidohydro_2,superfamily_Metallo-dependent hydrolases CCNT2 905 genome.wustl.edu 37 2 135712128 135712128 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000452521 +1 known p.R120* 1.000 178 0% 65 47.7% - - - - - NULL YSK4 80122 genome.wustl.edu 37 2 135743795 135743795 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025052.3 -1 validated p.A883T 0.027 170 0% 96 16.7% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL RAB3GAP1 22930 genome.wustl.edu 37 2 135888230 135888230 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012233.2 +1 reviewed p.R392Q 1.000 74 0% 41 26.8% - - probably_damaging(0.986) tolerated(0.19) deleterious(0.484) NULL RAB3GAP1 22930 genome.wustl.edu 37 2 135893133 135893133 + Splice_Site SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012233.2 +1 reviewed e17-1 1.000 68 0% 35 34.3% - - - - - - R3HDM1 23518 genome.wustl.edu 37 2 136396597 136396597 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015361.2 +1 provisional p.A375V 1.000 59 0% 32 50% - - probably_damaging(0.995) deleterious(0.04) deleterious(0.806) NULL UBXN4 23190 genome.wustl.edu 37 2 136528282 136528282 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014607.3 +1 validated p.R267C 1.000 225 0% 148 34.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL UBXN4 23190 genome.wustl.edu 37 2 136537799 136537799 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014607.3 +1 validated p.I411S 0.995 244 0% 152 35.5% - - benign(0.012) deleterious(0.03) neutral(0.365) NULL LRP1B 53353 genome.wustl.edu 37 2 141143499 141143499 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018557.2 -1 validated p.Q3498H 0.996 213 0% 44 34.1% - - probably_damaging(0.999) tolerated(0.1) deleterious(0.777) HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_LDL_rcpt_classA_cys-rich LRP1B 53353 genome.wustl.edu 37 2 141250225 141250225 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018557.2 -1 validated p.E3024D 0.984 271 0% 64 40.6% - - probably_damaging(0.994) tolerated(0.53) neutral(0.460) superfamily_SSF63825 LRP1B 53353 genome.wustl.edu 37 2 141299429 141299429 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018557.2 -1 validated p.G2436* 1.000 155 0% 27 40.7% - - - - - HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 LRP1B 53353 genome.wustl.edu 37 2 141609282 141609282 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018557.2 -1 validated p.R1550 0.993 84 0% 39 41% - - - - - HMMSmart_EGF,superfamily_SSF57196 LRP1B 53353 genome.wustl.edu 37 2 141707926 141707926 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018557.2 -1 validated p.S1005Y 1.000 60 0% 12 33.3% - - possibly_damaging(0.437) tolerated(0.07) neutral(0.462) HMMPfam_Ldl_recept_a,HMMSmart_LDLa,superfamily_LDL_rcpt_classA_cys-rich LRP1B 53353 genome.wustl.edu 37 2 141777512 141777512 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018557.2 -1 validated p.I650S 1.000 107 0.9% 20 65% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 LRP1B 53353 genome.wustl.edu 37 2 141812767 141812767 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018557.2 -1 validated p.C490 1.000 100 0% 18 38.9% - - - - - HMMSmart_EGF,superfamily_SSF57196 ZEB2 9839 genome.wustl.edu 37 2 145161532 145161532 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014795.3 -1 reviewed p.R253H 1.000 271 0% 110 39.1% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ORC4 5000 genome.wustl.edu 37 2 148710087 148710087 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002552.2 -1 reviewed p.R148Q 1.000 164 0% 46 32.6% - - possibly_damaging(0.868) tolerated(0.1) deleterious(0.623) HMMSmart_AAA,superfamily_SSF52540 MBD5 55777 genome.wustl.edu 37 2 149226353 149226353 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018328.4 +1 reviewed p.H281Y 1.000 55 0% 28 21.4% - - unknown(0) deleterious(0) - NULL MBD5 55777 genome.wustl.edu 37 2 149226936 149226936 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018328.4 +1 reviewed p.P475Q 1.000 93 0% 25 48% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL KIF5C 3800 genome.wustl.edu 37 2 149798124 149798124 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000435030 +1 known p.V133I 1.000 230 0% 109 30.3% - - benign(0.039) tolerated(0.1) neutral(0.288) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases LYPD6B 130576 genome.wustl.edu 37 2 150061828 150061828 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_177964.3 +1 provisional p.A47T 0.019 101 0% 30 36.7% - - possibly_damaging(0.753) deleterious(0) deleterious(0.721) NULL RBM43 375287 genome.wustl.edu 37 2 152108029 152108029 + Silent SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198557.2 -1 validated p.S155 0.845 132 0% 60 45% - - - - - NULL NMI 9111 genome.wustl.edu 37 2 152132068 152132068 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004688.2 -1 reviewed p.G188 0.029 96 0% 49 12.2% - - - - - HMMPfam_NID NMI 9111 genome.wustl.edu 37 2 152132126 152132126 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004688.2 -1 reviewed p.R169H 0.989 96 0% 49 38.8% - - benign(0.012) tolerated(0.05) neutral(0.346) HMMPfam_NID RIF1 55183 genome.wustl.edu 37 2 152311556 152311556 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000414861 +1 known p.W822* 0.993 116 0% 54 33.3% - - probably_damaging(1) tolerated(0.09) deleterious(0.796) NULL RIF1 55183 genome.wustl.edu 37 2 152320361 152320361 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018151.4 +1 reviewed p.R1443* 0.999 39 0% 17 58.8% - - - - - superfamily_ARM repeat NEB 4703 genome.wustl.edu 37 2 152354867 152354867 + Splice_Site SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000509223 -1 known e24-1 1.000 236 0% 59 16.9% - - - - - - NEB 4703 genome.wustl.edu 37 2 152409995 152409995 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004543.4 -1 reviewed p.N4849D 1.000 195 0% 68 47.1% - - benign(0.036) tolerated(0.18) neutral(0.058) HMMPfam_Nebulin,HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152482152 152482152 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004543.4 -1 reviewed p.R3207C 1.000 216 0% 70 38.6% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Nebulin,HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152497011 152497011 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004543.4 -1 reviewed p.D2848G 1.000 265 0% 107 44.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152520140 152520140 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004543.4 -1 reviewed p.N1895 0.004 262 0% 81 27.2% - - - - - HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152548668 152548668 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004543.4 -1 reviewed p.D671Y 1.000 286 0% 55 36.4% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL CACNB4 785 genome.wustl.edu 37 2 152695728 152695728 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000726.3 -1 reviewed p.E490* 1.000 217 0% 100 37% - - - - - NULL GALNT13 114805 genome.wustl.edu 37 2 155102455 155102455 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_052917.2 +1 validated p.E273* 1.000 123 0% 65 38.5% - - - - - HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases NR4A2 4929 genome.wustl.edu 37 2 157184501 157184501 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000406048 -1 known p.P122S 1.000 39 0% 81 14.8% - - - - - superfamily_Glucocorticoid receptor-like (DNA-binding domain) PKP4 8502 genome.wustl.edu 37 2 159490675 159490675 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003628.3 +1 reviewed p.A479V 0.996 91 0% 59 33.9% - - benign(0.023) tolerated(0.11) neutral(0.273) NULL TANC1 85461 genome.wustl.edu 37 2 160028664 160028664 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033394.2 +1 validated p.P462T 0.997 144 0% 65 40% - - benign(0.124) tolerated(0.07) neutral(0.329) NULL BAZ2B 29994 genome.wustl.edu 37 2 160240121 160240121 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013450.2 -1 validated p.R1253C 1.000 287 0% 51 27.5% - - probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL BAZ2B 29994 genome.wustl.edu 37 2 160241758 160241758 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013450.2 -1 validated p.K1198N 1.000 125 0% 30 23.3% - - possibly_damaging(0.722) deleterious(0.01) deleterious(0.667) NULL BAZ2B 29994 genome.wustl.edu 37 2 160245927 160245927 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013450.2 -1 validated p.R1049* 1.000 441 0% 66 33.3% - - - - - NULL CD302 9936 genome.wustl.edu 37 2 160639924 160639924 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014880.4 -1 validated p.E42* 0.971 198 0% 98 30.6% - - - - - HMMSmart_SM00034,superfamily_C-type lectin-like LY75 4065 genome.wustl.edu 37 2 160714895 160714895 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002349.2 -1 validated p.E787D 1.000 151 0% 35 14.3% - - benign(0.076) deleterious(0.05) neutral(0.351) HMMSmart_SM00034,superfamily_C-type lectin-like LY75 4065 genome.wustl.edu 37 2 160755406 160755406 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002349.2 -1 validated p.D87N 0.036 101 0% 65 32.3% - - benign(0.08) tolerated(0.51) neutral(0.014) HMMSmart_SM00458,superfamily_Ricin B-like lectins PLA2R1 22925 genome.wustl.edu 37 2 160836369 160836369 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007366.3 -1 validated p.G747D 0.997 86 0% 32 18.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like ITGB6 3694 genome.wustl.edu 37 2 160964272 160964272 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000888.3 -1 provisional p.I729S 1.000 134 0% 46 32.6% - - probably_damaging(0.954) deleterious(0) deleterious(0.842) NULL RBMS1 5937 genome.wustl.edu 37 2 161135122 161135122 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016836.3 -1 reviewed p.P333 0.168 186 0% 91 26.4% - - - - - NULL FAP 2191 genome.wustl.edu 37 2 163076434 163076434 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004460.2 -1 reviewed p.E139* 0.927 79 0% 32 37.5% - - - - - HMMPfam_DPPIV_N,superfamily_SSF82171 KCNH7 90134 genome.wustl.edu 37 2 163693243 163693243 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033272.2 -1 reviewed p.Q37H 1.000 79 0% 50 42% - - possibly_damaging(0.876) deleterious(0.03) deleterious(0.706) superfamily_PYP-like sensor domain (PAS domain) COBLL1 22837 genome.wustl.edu 37 2 165551821 165551821 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014900.3 -1 validated p.K732T 0.984 283 0% 89 39.3% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL SCN3A 6328 genome.wustl.edu 37 2 165946840 165946840 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006922.3 -1 reviewed p.K1941 1.000 243 0% 73 35.6% - - - - - NULL SCN3A 6328 genome.wustl.edu 37 2 165969419 165969419 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006922.3 -1 reviewed p.C1273 1.000 152 0% 42 31% - - - - - HMMPfam_Ion_trans,superfamily_SSF81324 SCN3A 6328 genome.wustl.edu 37 2 166003416 166003416 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006922.3 -1 reviewed p.R502* 0.999 316 0.6% 83 12% - - - - - NULL SCN2A 6326 genome.wustl.edu 37 2 166187925 166187925 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001040142.1 +1 reviewed p.W745* 1.000 262 0% 74 29.7% - - - - - superfamily_Voltage-gated potassium channels SCN2A 6326 genome.wustl.edu 37 2 166210776 166210776 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001040142.1 +1 reviewed p.N998 1.000 146 0% 84 40.5% - - - - - HMMPfam_Na_trans_assoc,superfamily_Voltage-gated potassium channels TTC21B 79809 genome.wustl.edu 37 2 166797565 166797565 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024753.3 -1 validated p.W228R 1.000 176 0% 55 40% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_TPR-like SCN1A 6323 genome.wustl.edu 37 2 166900385 166900385 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006920.4 -1 reviewed p.R613* 0.951 166 0% 44 43.2% - - - - - NULL SCN1A 6323 genome.wustl.edu 37 2 166908415 166908415 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006920.4 -1 reviewed p.V260I 1.000 161 0.6% 37 32.4% - - possibly_damaging(0.882) tolerated(0.4) neutral(0.360) HMMPfam_Ion_trans,superfamily_SSF81324 SCN1A 6323 genome.wustl.edu 37 2 166909378 166909378 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006920.4 -1 reviewed p.T226 0.020 171 0% 47 42.6% - - - - - HMMPfam_Ion_trans,superfamily_SSF81324 SCN1A 6323 genome.wustl.edu 37 2 166911180 166911180 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006920.4 -1 reviewed p.W190* 1.000 135 0% 25 36% - - - - - HMMPfam_Ion_trans,superfamily_SSF81324 SPC25 57405 genome.wustl.edu 37 2 169745736 169745736 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020675.3 -1 reviewed p.Q67* 1.000 164 0% 129 27.1% - - - - - NULL SPC25 57405 genome.wustl.edu 37 2 169746021 169746021 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020675.3 -1 reviewed p.E3D 1.000 105 0% 88 10.2% - - benign(0.017) tolerated(0.16) neutral(0.060) NULL LRP2 4036 genome.wustl.edu 37 2 169999224 169999224 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004525.2 -1 reviewed p.G4356 0.965 113 0% 45 37.8% - - - - - HMMSmart_EGF LRP2 4036 genome.wustl.edu 37 2 170065990 170065990 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004525.2 -1 reviewed p.R2148W 1.000 304 0% 85 37.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 LRP2 4036 genome.wustl.edu 37 2 170097655 170097655 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004525.2 -1 reviewed p.C1296 1.000 103 0% 50 14% - - - - - HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_LDL_rcpt_classA_cys-rich BBS5 129880 genome.wustl.edu 37 2 170349430 170349430 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152384.2 +1 reviewed p.A145T 1.000 124 0% 141 36.9% - - possibly_damaging(0.932) deleterious(0.01) deleterious(0.784) HMMPfam_DUF1448 PPIG 9360 genome.wustl.edu 37 2 170460747 170460747 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004792.2 +1 validated p.E38K 1.000 267 0% 191 32.5% - - probably_damaging(0.995) deleterious(0.03) deleterious(0.822) HMMPfam_Pro_isomerase,superfamily_Cyclophilin-like C2orf77 129881 genome.wustl.edu 37 2 170506940 170506940 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001085447.1 -1 validated p.D351Y 1.000 242 0% 123 43.1% - - probably_damaging(0.996) tolerated(0.07) deleterious(0.780) NULL KLHL23 151230 genome.wustl.edu 37 2 170592597 170592597 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144711.4 +1 validated p.A358D 1.000 107 0% 170 35.3% - - probably_damaging(0.999) tolerated(0.06) deleterious(0.813) HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central UBR3 130507 genome.wustl.edu 37 2 170843230 170843230 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_172070.3 +1 validated p.V1237A 1.000 158 0% 27 29.6% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL GAD1 2571 genome.wustl.edu 37 2 171702556 171702556 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000817.2 +1 reviewed p.L329I 1.000 67 0% 21 23.8% - - benign(0) tolerated(0.45) neutral(0.012) HMMPfam_Pyridoxal_deC,superfamily_PLP-dependent transferases SLC25A12 8604 genome.wustl.edu 37 2 172641978 172641978 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003705.3 -1 reviewed p.A615T 0.887 168 0% 90 31.1% - - benign(0) tolerated(0.96) - NULL GPR155 151556 genome.wustl.edu 37 2 175346661 175346661 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001033045.2 -1 validated p.E8D 0.998 190 0% 170 38.2% - - benign(0.074) tolerated(0.09) neutral(0.301) NULL WIPF1 7456 genome.wustl.edu 37 2 175436667 175436667 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001077269.1 -1 reviewed p.N289S 0.999 96 0% 106 36.8% - - benign(0.011) tolerated(0.93) neutral(0.001) NULL CHRNA1 1134 genome.wustl.edu 37 2 175618426 175618426 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001039523.2 -1 reviewed p.E220K 1.000 203 0% 140 39.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like CHRNA1 1134 genome.wustl.edu 37 2 175624260 175624260 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001039523.2 -1 reviewed p.V49M 1.000 43 0% 31 29% - - unknown(0) deleterious(0.01) - HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like KIAA1715 80856 genome.wustl.edu 37 2 176804298 176804298 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030650.1 -1 validated p.G265D 1.000 180 0% 52 42.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF2296 KIAA1715 80856 genome.wustl.edu 37 2 176812264 176812264 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030650.1 -1 validated p.S217L 0.826 132 0% 42 35.7% - - benign(0.03) tolerated(0.12) neutral(0.262) NULL EVX2 344191 genome.wustl.edu 37 2 176948110 176948110 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080458.1 -1 reviewed p.G132D 0.003 33 0% 100 35% - - benign(0.002) tolerated(0.32) neutral(0.024) NULL HOXD11 3237 genome.wustl.edu 37 2 176973681 176973681 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021192.2 +1 reviewed p.Y276 1.000 65 0% 95 43.2% - - - - - HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like HOXD10 3236 genome.wustl.edu 37 2 176981919 176981919 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002148.3 +1 reviewed p.R120C 1.000 86 0% 167 13.2% - - probably_damaging(1) tolerated(0.22) deleterious(0.542) NULL HOXD3 3232 genome.wustl.edu 37 2 177036435 177036435 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006898.4 +1 reviewed p.N244 1.000 81 0% 112 37.5% - - - - - HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like,PatternScan_HOMEOBOX_1 TTC30A 92104 genome.wustl.edu 37 2 178482550 178482550 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152275.3 -1 validated p.A294T 1.000 68 0% 91 38.5% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_SSF48452 RBM45 129831 genome.wustl.edu 37 2 178988970 178988970 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000455903 +1 known p.C56Y 0.980 44 0% 22 18.2% - - - - - HMMSmart_SM00360,superfamily_RNA-binding domain RBD OSBPL6 114880 genome.wustl.edu 37 2 179197373 179197373 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_145739.1 +1 reviewed p.Q105 1.000 86 0% 27 33.3% - - - - - HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 PRKRA 8575 genome.wustl.edu 37 2 179306381 179306381 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003690.4 -1 reviewed p.L189I 1.000 174 0% 118 40.7% - - benign(0.039) tolerated(0.54) neutral(0.009) HMMPfam_dsrm,HMMSmart_SM00358,superfamily_dsRNA-binding domain-like TTN 7273 genome.wustl.edu 37 2 179392403 179392403 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000356127 -1 known p.S33247L 1.000 145 0% 68 42.6% - - benign(0.015) - - NULL TTN 7273 genome.wustl.edu 37 2 179401681 179401681 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_133378.4 -1 reviewed p.S30817* 1.000 84 0% 17 29.4% - - - - - NULL TTN 7273 genome.wustl.edu 37 2 179424113 179424113 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000356127 -1 known p.Y26346H 1.000 102 0% 27 29.6% - - probably_damaging(0.996) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179425162 179425162 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000356127 -1 known p.S25996Y 0.253 160 0% 46 23.9% - - possibly_damaging(0.616) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179428661 179428661 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000356127 -1 known p.A24830T 1.000 63 0% 24 50% - - possibly_damaging(0.925) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179429420 179429420 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000356127 -1 known p.V24577F 1.000 65 0% 25 48% - - probably_damaging(0.998) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179429959 179429959 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000356127 -1 known p.V24397A 0.994 114 0% 34 38.2% - - possibly_damaging(0.895) - - HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179430001 179430001 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000356127 -1 known p.T24383M 1.000 142 0% 49 28.6% - - probably_damaging(0.999) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179451434 179451434 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_133378.4 -1 reviewed p.S18830L 0.649 303 0% 84 38.1% - - - - - NULL TTN 7273 genome.wustl.edu 37 2 179454915 179454915 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000356127 -1 known p.E17943K 1.000 259 0% 46 28.3% - - benign(0.099) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179456348 179456348 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_133378.4 -1 reviewed p.R17498Q 1.000 148 0.7% 32 50% - - - - - NULL TTN 7273 genome.wustl.edu 37 2 179458949 179458949 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000356127 -1 known p.D16821N 0.999 93 0% 21 38.1% - - benign(0.29) - - HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179468881 179468881 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000356127 -1 known p.R15610H 0.983 134 0% 59 44.1% - - possibly_damaging(0.737) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179480041 179480041 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000356127 -1 known p.E13643K 1.000 176 0% 56 37.5% - - benign(0.014) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179498214 179498214 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000356127 -1 known p.A11723V 0.998 158 0% 39 43.6% - - possibly_damaging(0.741) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179510669 179510669 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000426232 -1 known p.G169* 0.999 354 0% 88 37.5% - - unknown(0) tolerated(0.17) - NULL TTN 7273 genome.wustl.edu 37 2 179528226 179528226 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000392423 -1 known p.E458* 0.292 300 0.3% 63 28.6% - - - - - NULL TTN 7273 genome.wustl.edu 37 2 179535895 179535895 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000356127 -1 known p.P10443S 1.000 280 0% 65 40% - - unknown(0) tolerated(0.1) - NULL TTN 7273 genome.wustl.edu 37 2 179543488 179543488 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000356127 -1 known p.A10027D 1.000 128 0% 25 32% - - unknown(0) tolerated(0.58) - HMMPfam_PPAK TTN 7273 genome.wustl.edu 37 2 179547995 179547995 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000356127 -1 known p.V9700I 0.349 382 0% 192 12.5% - - unknown(0) - - HMMPfam_PPAK TTN 7273 genome.wustl.edu 37 2 179575437 179575437 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000356127 -1 known p.D8219Y 1.000 220 0% 63 23.8% - - unknown(0) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179579178 179579178 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000356127 -1 known p.E7531* 0.998 79 0% 29 13.8% - - - - - HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179593297 179593297 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000356127 -1 known p.S5208 0.561 149 0% 40 37.5% - - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179596139 179596139 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000356127 -1 known p.A4541V 1.000 149 0% 55 32.7% - - unknown(0) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179634524 179634524 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_133379.3 -1 reviewed p.K2928N 1.000 90 0% 38 42.1% - - benign(0.099) - - HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726 TTN 7273 genome.wustl.edu 37 2 179641594 179641594 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_133379.3 -1 reviewed p.T1666I 0.996 128 0% 27 29.6% - - possibly_damaging(0.741) - - NULL CCDC141 285025 genome.wustl.edu 37 2 179702405 179702405 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173648.2 -1 provisional p.L606 0.000 42 0% 21 57.1% - - - - - NULL ZNF385B 151126 genome.wustl.edu 37 2 180409604 180409604 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152520.4 -1 validated p.F116V 1.000 130 0% 41 39% - - probably_damaging(0.99) deleterious(0.04) deleterious(0.790) NULL UBE2E3 10477 genome.wustl.edu 37 2 181925530 181925530 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006357.2 +1 reviewed p.C173G 1.000 146 0.7% 96 50% - - possibly_damaging(0.848) tolerated(0.47) neutral(0.337) HMMPfam_UQ_con,HMMSmart_SM00212,superfamily_UBC-like PDE1A 5136 genome.wustl.edu 37 2 183129093 183129093 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005019.3 -1 validated p.V50 0.000 118 0% 35 25.7% - - - - - NULL NCKAP1 10787 genome.wustl.edu 37 2 183846023 183846023 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_205842.1 -1 validated p.Y436 0.480 225 0% 47 34% - - - - - HMMPfam_Nckap1 NUP35 129401 genome.wustl.edu 37 2 183998336 183998336 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138285.3 +1 reviewed p.S128P 0.005 147 0% 44 29.5% - - benign(0.013) tolerated(0.12) neutral(0.261) NULL NUP35 129401 genome.wustl.edu 37 2 184016240 184016240 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138285.3 +1 reviewed p.Q134H 1.000 89 0% 44 34.1% - - benign(0.108) tolerated(0.16) neutral(0.068) NULL ITGAV 3685 genome.wustl.edu 37 2 187540403 187540403 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002210.3 +1 reviewed p.L927 0.989 163 0% 51 39.2% - - - - - superfamily_Integrin domains ZSWIM2 151112 genome.wustl.edu 37 2 187713816 187713816 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182521.2 -1 validated p.H14 0.008 34 0% 26 50% - - - - - NULL CALCRL 10203 genome.wustl.edu 37 2 188216956 188216956 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005795.4 -1 validated p.T338I 1.000 82 0% 46 21.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_2 CALCRL 10203 genome.wustl.edu 37 2 188225334 188225334 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005795.4 -1 validated p.L258I 1.000 132 0% 81 37% - - probably_damaging(1) tolerated(0.05) deleterious(0.845) HMMPfam_7tm_2 TFPI 7035 genome.wustl.edu 37 2 188332632 188332632 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006287.4 -1 reviewed p.T219I 0.001 164 0% 34 35.3% - - benign(0.116) tolerated(0.31) neutral(0.036) HMMPfam_Kunitz_BPTI,HMMSmart_SM00131,superfamily_BPTI-like COL5A2 1290 genome.wustl.edu 37 2 189904232 189904232 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000393.3 -1 reviewed p.A1231S 1.000 53 0% 21 28.6% - - possibly_damaging(0.86) - - HMMPfam_Collagen COL5A2 1290 genome.wustl.edu 37 2 189962020 189962020 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000393.3 -1 reviewed p.G147W 1.000 158 0% 75 16% - - unknown(0) - - HMMPfam_Collagen COL5A2 1290 genome.wustl.edu 37 2 189974971 189974971 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000393.3 -1 reviewed p.G101V 0.935 87 0% 14 35.7% - - probably_damaging(0.981) - - NULL HIBCH 26275 genome.wustl.edu 37 2 191109612 191109612 + Splice_Site SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014362.3 -1 reviewed e11+1 1.000 123 0% 54 27.8% - - - - - - MFSD6 54842 genome.wustl.edu 37 2 191300954 191300954 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017694.3 +1 validated p.D67N 1.000 122 0% 104 10.6% - - probably_damaging(0.996) deleterious(0.05) deleterious(0.807) superfamily_MFS_gen_substrate_transporter MFSD6 54842 genome.wustl.edu 37 2 191301650 191301650 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017694.3 +1 validated p.E299* 1.000 155 0% 172 34.9% - - - - - superfamily_MFS_gen_substrate_transporter STAT1 6772 genome.wustl.edu 37 2 191847241 191847241 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007315.3 -1 reviewed p.L484 0.999 71 0% 42 33.3% - - - - - superfamily_p53-like transcription factors,HMMPfam_STAT_bind MYO1B 4430 genome.wustl.edu 37 2 192255118 192255118 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001130158.1 +1 validated p.R628W 0.954 76 1.3% 61 37.7% - - possibly_damaging(0.946) deleterious(0) deleterious(0.835) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH7 56171 genome.wustl.edu 37 2 196682502 196682502 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018897.2 -1 validated p.L3115M 1.000 213 0% 88 35.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL DNAH7 56171 genome.wustl.edu 37 2 196723270 196723270 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018897.2 -1 validated p.C2665 0.998 180 0% 49 32.7% - - - - - NULL DNAH7 56171 genome.wustl.edu 37 2 196746611 196746611 + Nonsense_Mutation SNP G G A rs149212659 TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018897.2 -1 validated p.R1957* 0.998 232 0% 107 32.7% - - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH7 56171 genome.wustl.edu 37 2 196750870 196750870 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018897.2 -1 validated p.L1845I 1.000 163 0% 64 9.4% - - benign(0.06) tolerated(0.57) neutral(0.010) NULL DNAH7 56171 genome.wustl.edu 37 2 196771633 196771633 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018897.2 -1 validated p.R1402I 1.000 154 0% 52 28.8% - - benign(0.008) tolerated(0.06) neutral(0.323) HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH7 56171 genome.wustl.edu 37 2 196825570 196825570 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018897.2 -1 validated p.L769F 1.000 104 0% 39 38.5% - - possibly_damaging(0.69) deleterious(0.03) deleterious(0.611) HMMPfam_DHC_N2 STK17B 9262 genome.wustl.edu 37 2 197004417 197004417 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004226.3 -1 validated p.S255P 1.000 128 0% 41 46.3% - - probably_damaging(0.997) tolerated(0.44) deleterious(0.479) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase HECW2 57520 genome.wustl.edu 37 2 197081791 197081791 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020760.1 -1 provisional p.R1479W 1.000 217 0% 85 31.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain HECW2 57520 genome.wustl.edu 37 2 197085626 197085626 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020760.1 -1 provisional p.P1396T 1.000 374 0% 131 38.9% - - probably_damaging(0.98) tolerated(0.38) neutral(0.442) HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain HECW2 57520 genome.wustl.edu 37 2 197135951 197135951 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020760.1 -1 provisional p.R1101C 1.000 139 0% 40 37.5% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL HECW2 57520 genome.wustl.edu 37 2 197143361 197143361 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020760.1 -1 provisional p.R1009H 0.999 225 0% 107 14% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_WW,HMMSmart_SM00456,PatternScan_WW_DOMAIN_1,superfamily_WW domain HECW2 57520 genome.wustl.edu 37 2 197172797 197172797 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020760.1 -1 provisional p.R816H 1.000 49 0% 30 33.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_WW,HMMSmart_SM00456,PatternScan_WW_DOMAIN_1,superfamily_WW domain HECW2 57520 genome.wustl.edu 37 2 197187308 197187308 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020760.1 -1 provisional p.E260* 1.000 106 0% 54 31.5% - - - - - HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) CCDC150 284992 genome.wustl.edu 37 2 197521488 197521488 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080539.1 +1 provisional p.R103Q 1.000 188 0% 55 30.9% - - probably_damaging(0.989) deleterious(0) deleterious(0.884) NULL C2orf66 401027 genome.wustl.edu 37 2 197673957 197673957 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_213608.1 -1 predicted p.N52S 0.996 309 0% 124 13.7% - - benign(0.313) - - NULL PGAP1 80055 genome.wustl.edu 37 2 197708766 197708766 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024989.3 -1 validated p.S791A 0.000 202 0% 81 35.8% - - benign(0.016) deleterious(0.05) neutral(0.346) NULL PGAP1 80055 genome.wustl.edu 37 2 197757078 197757078 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024989.3 -1 validated p.A361T 1.000 140 0% 93 41.9% - - benign(0.026) tolerated(0.3) neutral(0.030) NULL PGAP1 80055 genome.wustl.edu 37 2 197777693 197777693 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024989.3 -1 validated p.N188H 1.000 109 0% 59 32.2% - - benign(0.018) tolerated(0.13) neutral(0.253) HMMPfam_PGAP1,superfamily_alpha/beta-Hydrolases ANKRD44 91526 genome.wustl.edu 37 2 197878359 197878359 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153697.1 -1 provisional p.G575 0.999 93 0% 81 27.2% - - - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK ANKRD44 91526 genome.wustl.edu 37 2 197953471 197953471 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153697.1 -1 provisional p.F379C 1.000 137 0% 51 29.4% - - possibly_damaging(0.492) tolerated(0.15) neutral(0.405) HMMPfam_Ank,HMMSmart_ANK SF3B1 23451 genome.wustl.edu 37 2 198269871 198269871 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012433.2 -1 reviewed p.E490K 1.000 101 0% 37 37.8% - - probably_damaging(0.97) deleterious(0) deleterious(0.857) NULL COQ10B 80219 genome.wustl.edu 37 2 198338634 198338634 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025147.3 +1 provisional p.V235F 1.000 98 0% 65 38.5% - - possibly_damaging(0.759) deleterious(0.01) deleterious(0.687) NULL RFTN2 130132 genome.wustl.edu 37 2 198498487 198498487 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144629.2 -1 validated p.E225* 0.006 319 0% 154 30.5% - - - - - NULL RFTN2 130132 genome.wustl.edu 37 2 198508985 198508985 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144629.2 -1 validated p.S112L 0.006 293 0% 188 29.3% - - benign(0.039) deleterious(0.04) neutral(0.351) NULL RFTN2 130132 genome.wustl.edu 37 2 198511303 198511303 + Missense_Mutation SNP A A T rs112492132 TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144629.2 -1 validated p.V76D 0.998 131 0% 78 32.1% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL MARS2 92935 genome.wustl.edu 37 2 198571775 198571775 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138395.2 +1 validated p.G549V 0.007 68 0% 127 40.9% - - benign(0.039) tolerated(0.2) neutral(0.051) superfamily_tRNAsyn_1a_bind BOLL 66037 genome.wustl.edu 37 2 198646541 198646541 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_197970.2 -1 validated p.P24S 1.000 291 0% 266 36.1% - - benign(0.021) tolerated(0.15) neutral(0.242) superfamily_SSF54928 PLCL1 5334 genome.wustl.edu 37 2 199011560 199011560 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006226.3 +1 validated p.Q956H 1.000 136 0% 27 59.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SATB2 23314 genome.wustl.edu 37 2 200136961 200136961 + Silent SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015265.3 -1 reviewed p.A725 0.000 125 0% 49 40.8% - - - - - NULL SPATS2L 26010 genome.wustl.edu 37 2 201305407 201305407 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001100422.1 +1 validated p.R230C 1.000 118 0% 13 30.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF1387 KCTD18 130535 genome.wustl.edu 37 2 201355189 201355189 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152387.2 -1 validated p.T305 0.000 72 0% 82 43.9% - - - - - NULL AOX1 316 genome.wustl.edu 37 2 201478555 201478555 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001159.3 +1 reviewed p.A493T 0.999 119 0% 28 28.6% - - possibly_damaging(0.932) deleterious(0.04) deleterious(0.728) HMMPfam_CO_deh_flav_C,superfamily_CO dehydrogenase flavoprotein C-terminal domain-like NIF3L1 60491 genome.wustl.edu 37 2 201758040 201758040 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001136039.2 +1 validated p.E170* 1.000 172 0% 113 34.5% - - - - - HMMPfam_NIF3,superfamily_NIF3 (NGG1p interacting factor 3)-like CASP10 843 genome.wustl.edu 37 2 202073854 202073854 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032977.3 +1 reviewed p.T328 0.000 127 0% 55 43.6% - - - - - HMMPfam_Peptidase_C14,HMMSmart_CASc,superfamily_SSF52129 CASP8 841 genome.wustl.edu 37 2 202137459 202137459 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000444430 +1 known p.P34S 0.997 162 0% 98 42.9% - - - - - HMMPfam_DED,superfamily_DEATH domain,HMMSmart_SM00115 ALS2CR11 151254 genome.wustl.edu 37 2 202356391 202356391 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000439140 -1 known p.R1558K 0.000 145 0% 78 34.6% - - benign(0) tolerated(0.21) neutral(0.044) NULL ALS2CR11 151254 genome.wustl.edu 37 2 202400667 202400667 + Missense_Mutation SNP T T C rs189462996 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000450242 -1 known p.N528S 0.001 192 0% 90 36.7% - - benign(0.001) tolerated(0.53) neutral(0.007) NULL TMEM237 65062 genome.wustl.edu 37 2 202492155 202492155 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000448889 -1 known p.F318L 0.666 109 0% 56 41.1% - - - - - NULL ALS2 57679 genome.wustl.edu 37 2 202571708 202571708 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020919.3 -1 reviewed p.L1481M 1.000 78 0% 18 27.8% - - probably_damaging(1) tolerated(0.12) deleterious(0.760) superfamily_VPS9 domain (Pfam 02204) ALS2 57679 genome.wustl.edu 37 2 202614512 202614512 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020919.3 -1 reviewed p.V580I 1.000 130 0% 48 35.4% - - probably_damaging(0.99) tolerated(0.05) deleterious(0.787) superfamily_RCC1/BLIP-II ICA1L 130026 genome.wustl.edu 37 2 203682144 203682144 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138468.4 -1 validated p.Y227 1.000 62 0% 34 14.7% - - - - - HMMPfam_Arfaptin NBEAL1 65065 genome.wustl.edu 37 2 203972697 203972697 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001114132.1 +1 validated p.V550M 1.000 84 0% 50 24% - - probably_damaging(0.964) deleterious(0.02) deleterious(0.789) superfamily_ARM repeat NBEAL1 65065 genome.wustl.edu 37 2 204039938 204039938 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001114132.1 +1 validated p.S2102Y 1.000 156 0% 45 48.9% - - possibly_damaging(0.952) deleterious(0) deleterious(0.840) HMMPfam_Beach,superfamily_BEACH domain NBEAL1 65065 genome.wustl.edu 37 2 204045184 204045184 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001114132.1 +1 validated p.E2153* 1.000 121 0% 20 30% - - - - - HMMPfam_Beach,superfamily_BEACH domain NBEAL1 65065 genome.wustl.edu 37 2 204081998 204081998 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001114132.1 +1 validated p.R2669Q 1.000 114 0% 72 34.7% - - probably_damaging(0.982) deleterious(0) deleterious(0.871) superfamily_WD40 repeat-like CYP20A1 57404 genome.wustl.edu 37 2 204154520 204154520 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_177538.2 +1 reviewed p.R335Q 1.000 49 0% 20 55% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_p450,superfamily_Cytochrome_P450 ABI2 10152 genome.wustl.edu 37 2 204267369 204267369 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000454023 +1 known p.R148H 0.000 176 0% 97 33% - - - - - NULL PARD3B 117583 genome.wustl.edu 37 2 206058027 206058027 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152526.4 +1 validated p.S646L 0.998 77 0% 24 62.5% - - possibly_damaging(0.916) deleterious(0.04) deleterious(0.716) NULL ZDBF2 57683 genome.wustl.edu 37 2 207171372 207171372 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020923.1 +1 validated p.S707I 0.856 124 0% 38 34.2% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ZDBF2 57683 genome.wustl.edu 37 2 207172168 207172168 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020923.1 +1 validated p.E972D 0.001 56 0% 16 37.5% - - possibly_damaging(0.786) deleterious(0) deleterious(0.739) NULL ZDBF2 57683 genome.wustl.edu 37 2 207172898 207172898 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020923.1 +1 validated p.E1216* 0.002 75 0% 35 34.3% - - - - - NULL ZDBF2 57683 genome.wustl.edu 37 2 207172934 207172934 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020923.1 +1 validated p.E1228* 0.124 67 0% 24 37.5% - - - - - NULL ADAM23 8745 genome.wustl.edu 37 2 207395613 207395613 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003812.2 +1 reviewed p.L172V 0.998 280 0% 85 35.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pep_M12B_propep METTL21A 151194 genome.wustl.edu 37 2 208486635 208486635 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001127395.1 -1 validated p.V52I 0.982 36 0% 65 36.9% - - possibly_damaging(0.676) tolerated(0.49) neutral(0.251) HMMPfam_Methyltransf_16,superfamily_S-adenosyl-L-methionine-dependent methyltransferases CRYGA 1418 genome.wustl.edu 37 2 209025779 209025779 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014617.3 -1 validated p.L92 0.964 51 0% 30 33.3% - - - - - HMMPfam_Crystall,HMMSmart_SM00247,superfamily_gamma-Crystallin-like PIKFYVE 200576 genome.wustl.edu 37 2 209177007 209177007 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015040.3 +1 reviewed p.A562T 1.000 182 0% 55 27.3% - - probably_damaging(1) tolerated(0.32) deleterious(0.524) NULL PIKFYVE 200576 genome.wustl.edu 37 2 209190041 209190041 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015040.3 +1 reviewed p.G836C 1.000 105 0% 26 50% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cpn60_TCP1,superfamily_GroEL apical domain-like,superfamily_GroEL-intermediate domain like PIKFYVE 200576 genome.wustl.edu 37 2 209190564 209190564 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015040.3 +1 reviewed p.S1010I 0.998 82 0% 23 21.7% - - benign(0.003) deleterious(0.02) neutral(0.383) NULL PTH2R 5746 genome.wustl.edu 37 2 209308075 209308075 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005048.2 +1 reviewed p.R171Q 1.000 112 0% 57 33.3% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_7tm_2,superfamily_SSF81321 MAP2 4133 genome.wustl.edu 37 2 210559274 210559274 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002374.3 +1 reviewed p.D794N 1.000 95 0% 22 36.4% - - possibly_damaging(0.638) deleterious(0) deleterious(0.668) HMMPfam_MAP2_projctn MAP2 4133 genome.wustl.edu 37 2 210559516 210559516 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002374.3 +1 reviewed p.K874 0.988 76 0% 20 40% - - - - - HMMPfam_MAP2_projctn UNC80 285175 genome.wustl.edu 37 2 210858800 210858800 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032504.1 +1 validated p.R3108* 1.000 44 0% 36 25% - - - - - NULL RPE 6120 genome.wustl.edu 37 2 210881336 210881336 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_199229.1 +1 provisional p.Q150* 1.000 212 0% 95 33.7% - - - - - HMMPfam_Ribul_P_3_epim,PatternScan_RIBUL_P_3_EPIMER_2,superfamily_Ribulose-phoshate binding barrel KANSL1L 151050 genome.wustl.edu 37 2 210940433 210940433 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152519.2 -1 validated p.L533R 1.000 213 0% 95 35.8% - - possibly_damaging(0.461) tolerated(0.18) neutral(0.207) NULL LANCL1 10314 genome.wustl.edu 37 2 211305415 211305415 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001136574.1 -1 reviewed p.F199L 0.670 173 0% 34 20.6% - - benign(0) tolerated(1) - HMMPfam_LANC_like CPS1 1373 genome.wustl.edu 37 2 211454847 211454847 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001122633.1 +1 reviewed p.H249Q 0.998 98 0% 18 33.3% - - possibly_damaging(0.455) tolerated(0.54) neutral(0.157) HMMPfam_GATase,superfamily_Class I glutamine amidotransferase-like CPS1 1373 genome.wustl.edu 37 2 211460210 211460210 + Splice_Site SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001122633.1 +1 reviewed e14-1 1.000 213 0% 33 39.4% - - - - - - IKZF2 22807 genome.wustl.edu 37 2 213878602 213878602 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016260.2 -1 reviewed p.L257M 1.000 213 0% 47 42.6% - - benign(0.112) tolerated(0.06) neutral(0.332) NULL BARD1 580 genome.wustl.edu 37 2 215593652 215593652 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000449967 -1 known p.S549L 0.024 127 0% 43 39.5% - - unknown(0) - - NULL ABCA12 26154 genome.wustl.edu 37 2 215865685 215865685 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173076.2 -1 reviewed p.V975I 0.000 128 0% 35 28.6% - - benign(0) tolerated(0.45) neutral(0.012) NULL ABCA12 26154 genome.wustl.edu 37 2 215875146 215875146 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173076.2 -1 reviewed p.G794E 1.000 222 0% 88 31.8% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL ABCA12 26154 genome.wustl.edu 37 2 215875150 215875150 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173076.2 -1 reviewed p.A793T 0.997 214 0% 88 39.8% - - benign(0.003) tolerated(0.37) neutral(0.019) NULL ABCA12 26154 genome.wustl.edu 37 2 215880332 215880332 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173076.2 -1 reviewed p.K613T 0.451 153 0.7% 76 34.2% - - benign(0.003) tolerated(0.06) neutral(0.323) NULL FN1 2335 genome.wustl.edu 37 2 216299424 216299424 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_212482.1 -1 reviewed p.P91H 1.000 207 0% 258 33.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00058,superfamily_Fibronectin type I module XRCC5 7520 genome.wustl.edu 37 2 217054974 217054974 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021141.3 +1 reviewed p.E621K 0.945 220 0.5% 52 32.7% - - benign(0.012) tolerated(0.8) neutral(0.001) HMMPfam_Ku_PK_bind,superfamily_Ku_PK_bind SMARCAL1 50485 genome.wustl.edu 37 2 217347522 217347522 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001127207.1 +1 reviewed p.D896G 0.724 104 0% 59 37.3% - - possibly_damaging(0.949) deleterious(0.02) deleterious(0.776) NULL TNS1 7145 genome.wustl.edu 37 2 218678421 218678421 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022648.4 -1 reviewed p.Q1512H 1.000 178 0.6% 231 34.2% - - benign(0.345) tolerated(0.1) neutral(0.395) HMMPfam_SH2,HMMSmart_SH2,superfamily_SSF55550 C2orf62 375307 genome.wustl.edu 37 2 219232217 219232217 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198559.1 +1 predicted p.L299 0.793 87 0% 151 32.5% - - - - - NULL STK36 27148 genome.wustl.edu 37 2 219544331 219544331 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015690.3 +1 validated p.R276H 0.993 56 0% 45 40% - - benign(0.003) tolerated(0.12) neutral(0.261) superfamily_Protein kinase-like (PK-like) STK36 27148 genome.wustl.edu 37 2 219561852 219561852 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015690.3 +1 validated p.E893K 0.000 78 0% 88 34.1% - - benign(0.001) tolerated(0.23) neutral(0.042) superfamily_ARM repeat TTLL4 9654 genome.wustl.edu 37 2 219610493 219610493 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000417196 +1 known p.P66L 1.000 47 0% 34 20.6% - - - - - NULL TTLL4 9654 genome.wustl.edu 37 2 219616455 219616455 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014640.4 +1 validated p.R968* 0.004 81 0% 54 13% - - - - - NULL TTLL4 9654 genome.wustl.edu 37 2 219617583 219617583 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014640.4 +1 validated p.R1025Q 1.000 356 0.3% 194 41.8% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL PRKAG3 53632 genome.wustl.edu 37 2 219696465 219696465 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017431.2 -1 reviewed p.R10H 0.000 20 0% 27 44.4% - - benign(0.004) deleterious(0.02) neutral(0.383) NULL ZFAND2B 130617 genome.wustl.edu 37 2 220074000 220074000 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138802.1 +1 provisional p.S249L 0.999 102 0% 213 16.4% - - - - - NULL ATG9A 79065 genome.wustl.edu 37 2 220087552 220087552 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001077198.1 -1 validated p.L555 0.996 85 0% 163 14.7% - - - - - NULL ATG9A 79065 genome.wustl.edu 37 2 220089807 220089807 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001077198.1 -1 validated p.L168 1.000 99 0% 155 39.4% - - - - - NULL TUBA4A 7277 genome.wustl.edu 37 2 220116431 220116431 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006000.1 -1 reviewed p.E77D 1.000 133 0% 216 37% - - benign(0.004) deleterious(0) neutral(0.445) HMMPfam_Tubulin,superfamily_Tubulin nucleotide-binding domain-like RESP18 389075 genome.wustl.edu 37 2 220197280 220197280 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001007089.3 -1 validated p.S66R 0.178 14 0% 18 44.4% - - probably_damaging(0.958) deleterious(0) deleterious(0.846) NULL LOC100288941 100288941 genome.wustl.edu 37 2 220286163 220286163 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002342291.1 -1 model p.P54S 0.998 68 0% 65 41.5% - - - - - NULL SPEG 10290 genome.wustl.edu 37 2 220354534 220354534 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005876.4 +1 validated p.L2932I 0.051 21 0% 47 40.4% - - possibly_damaging(0.653) tolerated(0.11) deleterious(0.501) NULL ASIC4 55515 genome.wustl.edu 37 2 220379586 220379586 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018674.4 +1 reviewed p.S174I 1.000 15 0% 30 36.7% - - probably_damaging(0.996) tolerated(0.09) deleterious(0.758) HMMPfam_ASC ASIC4 55515 genome.wustl.edu 37 2 220379949 220379949 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018674.4 +1 reviewed p.R295H 1.000 37 0% 73 32.9% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_ASC CHPF 79586 genome.wustl.edu 37 2 220405789 220405789 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024536.5 -1 validated p.P316L 0.966 51 0% 104 45.2% - - benign(0.001) tolerated(0.21) neutral(0.044) HMMPfam_CHGN TMEM198 130612 genome.wustl.edu 37 2 220412668 220412668 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005209.1 +1 provisional p.E203K 0.994 9 0.000 30 0.367 - - possibly_damaging(0.915) tolerated(0.27) neutral(0.400) NULL SLC4A3 6508 genome.wustl.edu 37 2 220493885 220493885 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_201574.2 +1 validated p.H79 1.000 22 0% 47 44.7% - - - - - NULL SLC4A3 6508 genome.wustl.edu 37 2 220496703 220496703 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_201574.2 +1 validated p.E302D 1.000 27 0% 55 23.6% - - possibly_damaging(0.942) tolerated(0.27) neutral(0.420) NULL SLC4A3 6508 genome.wustl.edu 37 2 220501536 220501536 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_201574.2 +1 validated p.E852 1.000 147 0% 200 37.5% - - - - - HMMPfam_HCO3_cotransp EPHA4 2043 genome.wustl.edu 37 2 222294797 222294797 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004438.3 -1 reviewed p.M857I 1.000 124 0% 42 21.4% - - probably_damaging(0.98) deleterious(0) deleterious(0.869) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like WDFY1 57590 genome.wustl.edu 37 2 224765929 224765929 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020830.3 -1 reviewed p.H152 0.997 54 0% 34 35.3% - - - - - HMMSmart_SM00320,superfamily_WD40 repeat-like SERPINE2 5270 genome.wustl.edu 37 2 224849664 224849664 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001136530.1 -1 validated p.S242L 0.987 141 0% 50 24% - - benign(0.001) tolerated(0.15) neutral(0.241) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin CUL3 8452 genome.wustl.edu 37 2 225376109 225376109 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003590.3 -1 validated p.S282Y 1.000 272 0% 132 16.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cullin,superfamily_Cullin repeat CUL3 8452 genome.wustl.edu 37 2 225422549 225422549 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003590.3 -1 validated p.N31H 1.000 147 0% 73 53.4% - - possibly_damaging(0.695) deleterious(0.04) deleterious(0.598) superfamily_Cullin repeat DOCK10 55619 genome.wustl.edu 37 2 225639637 225639637 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014689.2 -1 validated p.R2000W 0.030 69 0% 41 36.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ded_cyto DOCK10 55619 genome.wustl.edu 37 2 225670026 225670026 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000409802 -1 known p.L42I 0.556 182 0% 32 53.1% - - - - - NULL DOCK10 55619 genome.wustl.edu 37 2 225704714 225704714 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014689.2 -1 validated p.L913 1.000 204 0% 78 38.5% - - - - - NULL DOCK10 55619 genome.wustl.edu 37 2 225751199 225751199 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014689.2 -1 validated p.H156N 1.000 186 0% 49 42.9% - - benign(0.002) tolerated(0.31) neutral(0.027) NULL IRS1 3667 genome.wustl.edu 37 2 227661129 227661129 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005544.2 -1 reviewed p.R776C 1.000 24 0% 40 40% - - possibly_damaging(0.94) deleterious(0.02) deleterious(0.768) NULL IRS1 3667 genome.wustl.edu 37 2 227661675 227661675 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005544.2 -1 reviewed p.R594C 0.754 40 0% 83 31.3% - - probably_damaging(0.992) deleterious(0.04) deleterious(0.796) NULL IRS1 3667 genome.wustl.edu 37 2 227662323 227662323 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005544.2 -1 reviewed p.P378S 1.000 16 0% 47 25.5% - - probably_damaging(0.999) tolerated(0.18) deleterious(0.546) NULL COL4A4 1286 genome.wustl.edu 37 2 227920685 227920685 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000092.4 -1 reviewed p.L898I 0.000 35 0% 21 19% - - unknown(0) tolerated(0.36) - HMMPfam_Collagen COL4A4 1286 genome.wustl.edu 37 2 227927272 227927272 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000092.4 -1 reviewed p.G677D 0.987 45 0% 48 37.5% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Collagen COL4A4 1286 genome.wustl.edu 37 2 227985769 227985769 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000092.4 -1 reviewed p.D96 0.954 100 0% 58 24.1% - - - - - HMMPfam_Collagen MFF 56947 genome.wustl.edu 37 2 228205093 228205093 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020194.4 +1 provisional p.S172Y 1.000 98 0% 46 50% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_DUF800 AGFG1 3267 genome.wustl.edu 37 2 228389532 228389532 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001135187.1 +1 reviewed p.L199I 1.000 163 0.6% 40 37.5% - - probably_damaging(0.999) tolerated(0.15) deleterious(0.732) NULL PID1 55022 genome.wustl.edu 37 2 229890461 229890461 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017933.4 -1 validated p.A212T 1.000 90 0% 44 38.6% - - benign(0.075) tolerated(1) neutral(0.005) superfamily_SSF50729 TRIP12 9320 genome.wustl.edu 37 2 230632424 230632424 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004238.1 -1 provisional p.T1942M 1.000 159 0% 89 34.8% - - probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_HECT,HMMSmart_HECTc,superfamily_HECT FBXO36 130888 genome.wustl.edu 37 2 230875459 230875459 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_174899.4 +1 validated p.C142 0.095 41 0% 32 12.5% - - - - - superfamily_F-box domain SLC16A14 151473 genome.wustl.edu 37 2 230911251 230911251 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152527.4 -1 validated p.A197 0.712 25 0% 29 55.2% - - - - - HMMPfam_MFS_1,superfamily_MFS general substrate transporter SP140L 93349 genome.wustl.edu 37 2 231248287 231248287 + Missense_Mutation SNP A A T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138402.4 +1 provisional p.N234Y 0.003 307 0% 114 33.3% - - possibly_damaging(0.801) deleterious(0.03) deleterious(0.666) NULL SP100 6672 genome.wustl.edu 37 2 231333758 231333758 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080391.1 +1 validated p.A431D 0.073 193 0% 44 27.3% - - benign(0) tolerated(0.28) neutral(0.032) NULL ARMC9 80210 genome.wustl.edu 37 2 232081495 232081495 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025139.3 +1 validated p.E165K 0.996 161 0% 95 33.7% - - possibly_damaging(0.736) tolerated(0.17) neutral(0.328) superfamily_ARM-type_fold NPPC 4880 genome.wustl.edu 37 2 232790340 232790340 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024409.1 -1 provisional p.G59D 0.904 4 0.000 13 0.308 - - probably_damaging(0.998) tolerated(0.14) deleterious(0.724) HMMPfam_ANP ALPP 250 genome.wustl.edu 37 2 233245445 233245445 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001632.3 +1 reviewed p.R326 0.132 105 0% 241 14.1% - - - - - HMMPfam_Alk_phosphatase,HMMSmart_alkPPc,superfamily_Alkaline_phosphatase_core CHRNG 1146 genome.wustl.edu 37 2 233406159 233406159 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005199.4 +1 reviewed p.P142 0.214 141 0% 260 11.9% - - - - - HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD GIGYF2 26058 genome.wustl.edu 37 2 233708855 233708855 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001103147.1 +1 reviewed p.G1018C 0.649 85 0% 67 35.8% - - unknown(0) deleterious(0.04) - NULL GIGYF2 26058 genome.wustl.edu 37 2 233709078 233709078 + Splice_Site SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001103147.1 +1 reviewed e24-1 1.000 87 0% 86 32.6% - - - - - - NGEF 25791 genome.wustl.edu 37 2 233757651 233757651 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_019850.2 -1 validated p.V367I 1.000 96 0% 147 48.3% - - benign(0.325) tolerated(0.06) neutral(0.424) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) NEU2 4759 genome.wustl.edu 37 2 233899109 233899109 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005383.2 +1 reviewed p.G162E 0.998 44 0% 79 38% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Sialidase NEU2 4759 genome.wustl.edu 37 2 233899476 233899476 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005383.2 +1 reviewed p.S284 0.000 14 0% 24 41.7% - - - - - superfamily_Sialidase INPP5D 3635 genome.wustl.edu 37 2 234079786 234079786 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000359570 +1 known p.Q659H 1.000 70 0% 69 34.8% - - possibly_damaging(0.819) tolerated(0.07) deleterious(0.629) HMMSmart_SM00128,HMMPfam_Exo_endo_phos,superfamily_DNase I-like ATG16L1 55054 genome.wustl.edu 37 2 234198559 234198559 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030803.6 +1 validated p.A421 0.822 90 0% 65 21.5% - - - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 SAG 6295 genome.wustl.edu 37 2 234227502 234227502 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000415974 +1 known p.G81D 0.000 273 0% 263 39.9% - - unknown(0) deleterious(0.01) - NULL DGKD 8527 genome.wustl.edu 37 2 234296935 234296935 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152879.2 +1 reviewed p.Q63H 1.000 80 0% 88 37.5% - - probably_damaging(0.997) tolerated(0.25) deleterious(0.503) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like DGKD 8527 genome.wustl.edu 37 2 234299111 234299111 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152879.2 +1 reviewed p.N110 0.988 257 0% 209 43.1% - - - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like USP40 55230 genome.wustl.edu 37 2 234431847 234431847 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018218.2 -1 validated p.I735V 0.000 72 0% 43 46.5% - - benign(0) tolerated(0.87) neutral(0.001) NULL USP40 55230 genome.wustl.edu 37 2 234463057 234463057 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018218.2 -1 validated p.G233E 0.986 171 0% 46 30.4% - - benign(0.04) tolerated(0.6) neutral(0.007) HMMPfam_UCH,superfamily_Cysteine proteinases UGT1A10 54575 genome.wustl.edu 37 2 234545224 234545224 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_019075.2 +1 reviewed p.T19I 0.000 156 0% 55 32.7% - - possibly_damaging(0.817) tolerated(0.47) neutral(0.320) NULL UGT1A5 54579 genome.wustl.edu 37 2 234621853 234621853 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_019078.1 +1 reviewed p.E72D 0.000 141 0% 93 31.2% - - benign(0.004) tolerated(0.12) neutral(0.261) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT1A4 54657 genome.wustl.edu 37 2 234627959 234627959 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007120.2 +1 reviewed p.L165M 0.384 256 0% 297 37% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT1A3 54659 genome.wustl.edu 37 2 234637889 234637889 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_019093.2 +1 reviewed p.S39 1.000 83 0% 99 32.3% - - - - - HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase DNAJB3 414061 genome.wustl.edu 37 2 234652363 234652363 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001001394.3 -1 validated p.R67H 1.000 23 0% 39 28.2% - - - - - superfamily_DnaJ_N TRPM8 79054 genome.wustl.edu 37 2 234835300 234835300 + Splice_Site SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024080.4 +1 validated e1+1 0.933 87 0% 66 34.8% - - - - - - TRPM8 79054 genome.wustl.edu 37 2 234858646 234858646 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024080.4 +1 validated p.S332 0.370 101 0% 52 38.5% - - - - - NULL SH3BP4 23677 genome.wustl.edu 37 2 235950763 235950763 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014521.2 +1 reviewed p.Y450 1.000 27 0% 33 21.2% - - - - - NULL AGAP1 116987 genome.wustl.edu 37 2 236649606 236649606 + Splice_Site SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001037131.1 +1 validated e4-1 1.000 218 0% 270 38.5% - - - - - - GBX2 2637 genome.wustl.edu 37 2 237074751 237074751 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001485.2 -1 validated p.K285E 1.000 85 0% 146 35.6% - - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1 GBX2 2637 genome.wustl.edu 37 2 237075043 237075043 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001485.2 -1 validated p.K187N 1.000 24 0% 50 28% - - unknown(0) deleterious(0) - NULL IQCA1 79781 genome.wustl.edu 37 2 237276915 237276915 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024726.3 -1 provisional p.R531C 0.995 54 0% 80 37.5% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_P-loop containing nucleoside triphosphate hydrolases IQCA1 79781 genome.wustl.edu 37 2 237374286 237374286 + Missense_Mutation SNP C C T rs147583253 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024726.3 -1 provisional p.R263Q 0.038 195 0% 93 32.3% - - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL COL6A3 1293 genome.wustl.edu 37 2 238242185 238242185 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004369.3 -1 reviewed p.S3079Y 0.008 156 0.6% 78 15.4% - - unknown(0) - - NULL COL6A3 1293 genome.wustl.edu 37 2 238280717 238280717 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004369.3 -1 reviewed p.A1315T 1.000 19 0% 28 28.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like COL6A3 1293 genome.wustl.edu 37 2 238303654 238303654 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004369.3 -1 reviewed p.T95 0.440 107 0% 37 29.7% - - - - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like ENSG00000222449 0 genome.wustl.edu 37 2 238471810 238471810 + RNA SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000410517 +1 novel NULL 0.000 18 0% 42 35.7% - - - - - - ESPNL 339768 genome.wustl.edu 37 2 239036311 239036311 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_194312.2 +1 validated p.P384H 0.004 36 0% 61 44.3% - - possibly_damaging(0.437) deleterious(0) deleterious(0.587) NULL KLHL30 377007 genome.wustl.edu 37 2 239054405 239054405 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198582.3 +1 validated p.A343V 1.000 16 0% 49 30.6% - - possibly_damaging(0.911) deleterious(0.01) deleterious(0.768) HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain KLHL30 377007 genome.wustl.edu 37 2 239056477 239056477 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198582.3 +1 validated p.T367A 1.000 17 0% 48 50% - - probably_damaging(1) tolerated(0.26) deleterious(0.534) HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain ILKAP 80895 genome.wustl.edu 37 2 239082246 239082246 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030768.2 -1 reviewed p.D295 0.264 56 0% 58 39.7% - - - - - HMMSmart_PP2C_SIG,HMMSmart_PP2Cc,superfamily_PP2C-related,HMMPfam_PP2C PER2 8864 genome.wustl.edu 37 2 239159251 239159251 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022817.2 -1 reviewed p.I1136 1.000 222 0% 305 34.8% - - - - - NULL PER2 8864 genome.wustl.edu 37 2 239179955 239179955 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022817.2 -1 reviewed p.A257V 0.358 56 0% 64 32.8% - - benign(0.002) tolerated(0.17) neutral(0.059) NULL TRAF3IP1 26146 genome.wustl.edu 37 2 239237868 239237868 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015650.3 +1 validated p.R267Q 0.000 233 0% 302 37.4% - - probably_damaging(0.982) tolerated(0.05) deleterious(0.772) HMMPfam_MIP-T3 HDAC4 9759 genome.wustl.edu 37 2 240002874 240002874 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006037.3 -1 reviewed p.P884 0.673 11 0% 47 42.6% - - - - - HMMPfam_Hist_deacetyl,superfamily_Arginase/deacetylase HDAC4 9759 genome.wustl.edu 37 2 240056275 240056275 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006037.3 -1 reviewed p.S348L 0.997 76 0% 114 30.7% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL FLJ45964 401040 genome.wustl.edu 37 2 240500088 240500088 + RNA SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XR_041563.1 +1 model NULL 0.279 32 0% 60 33.3% - - - - - - ENSG00000196758 0 genome.wustl.edu 37 2 240500245 240500245 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000358775 +1 known p.R42 0.001 44 0% 78 56.4% - - - - - NULL OR6B3 150681 genome.wustl.edu 37 2 240985208 240985208 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173351.1 -1 provisional p.F94 0.006 169 0% 144 30.6% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 MYEOV2 150678 genome.wustl.edu 37 2 241069328 241069328 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138336.1 -1 validated p.E127D 0.001 33 0% 40 45% - - unknown(0) - - NULL GPR35 2859 genome.wustl.edu 37 2 241570173 241570173 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005301.2 +1 provisional p.N268K 1.000 29 0% 67 37.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 KIF1A 547 genome.wustl.edu 37 2 241725902 241725902 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004321.4 -1 reviewed p.R153H 1.000 67 0% 141 32.6% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases SNED1 25992 genome.wustl.edu 37 2 242008377 242008377 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080437.1 +1 provisional p.G1082 0.798 8 0.000 22 0.318 - - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III MTERFD2 130916 genome.wustl.edu 37 2 242039227 242039227 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182501.3 -1 validated p.T35M 0.000 31 0% 40 50% - - benign(0.155) tolerated(0.47) neutral(0.025) HMMPfam_mTERF PASK 23178 genome.wustl.edu 37 2 242047601 242047601 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015148.2 -1 validated p.P1216 0.986 55 0% 84 32.1% - - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PASK 23178 genome.wustl.edu 37 2 242065921 242065921 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015148.2 -1 validated p.T803 0.111 76 1.3% 92 39.1% - - - - - NULL LOC100289155 100289155 genome.wustl.edu 37 2 242089780 242089780 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002342315.1 -1 model p.P85T 0.010 7 0.000 13 0.308 - - - - - NULL PPP1R7 5510 genome.wustl.edu 37 2 242122128 242122128 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002712.1 +1 provisional p.T325A 1.000 127 0% 182 33% - - possibly_damaging(0.858) deleterious(0.01) deleterious(0.737) NULL ANO7 50636 genome.wustl.edu 37 2 242139611 242139611 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001001891.3 +1 validated p.S229 1.000 18 0% 34 29.4% - - - - - NULL HDLBP 3069 genome.wustl.edu 37 2 242170210 242170210 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005336.3 -1 validated p.R1146 0.002 85 0% 170 34.1% - - - - - HMMSmart_KH,HMMPfam_KH_1,superfamily_SSF54791 HDLBP 3069 genome.wustl.edu 37 2 242179346 242179346 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000373292 -1 known p.E596* 0.781 123 0% 146 28.8% - - benign(0.149) deleterious(0.01) neutral(0.419) HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) FARP2 9855 genome.wustl.edu 37 2 242402028 242402028 + Splice_Site SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014808.2 +1 validated e14+1 1.000 54 0% 94 27.7% - - - - - - FARP2 9855 genome.wustl.edu 37 2 242402855 242402855 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014808.2 +1 validated p.R595C 0.984 55 0% 85 37.6% - - probably_damaging(0.986) deleterious(0.01) deleterious(0.840) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) FARP2 9855 genome.wustl.edu 37 2 242433512 242433512 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014808.2 +1 validated p.E1046G 0.007 13 7.7% 18 33.3% - - possibly_damaging(0.875) deleterious(0) deleterious(0.784) NULL D2HGDH 728294 genome.wustl.edu 37 2 242680475 242680475 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152783.3 +1 reviewed p.R107Q 0.602 36 0% 67 34.3% - - benign(0.002) tolerated(0.39) neutral(0.016) HMMPfam_FAD_binding_4,superfamily_FAD-binding domain D2HGDH 728294 genome.wustl.edu 37 2 242694718 242694718 + Missense_Mutation SNP C C T rs184924693 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000445308 +1 known p.P77L 0.005 5 0.000 17 0.647 - - unknown(0) - - NULL NEU4 129807 genome.wustl.edu 37 2 242758075 242758075 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_080741.2 +1 reviewed p.R398C 0.220 5 0.000 15 0.467 - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_Sialidase CXXC11 285093 genome.wustl.edu 37 2 242814972 242814972 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173821.2 +1 validated p.A422V 0.000 24 0% 37 32.4% - - possibly_damaging(0.86) deleterious(0.02) deleterious(0.716) NULL CXXC11 285093 genome.wustl.edu 37 2 242815246 242815246 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173821.2 +1 validated p.R513 0.002 30 0% 64 37.5% - - - - - NULL CHL1 10752 genome.wustl.edu 37 3 391208 391208 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006614.2 +1 reviewed p.F339V 0.999 64 0% 22 50% - - probably_damaging(1) tolerated(0.23) deleterious(0.541) HMMSmart_SM00409,superfamily_Immunoglobulin CHL1 10752 genome.wustl.edu 37 3 404984 404984 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006614.2 +1 reviewed p.T501 0.309 173 0% 55 36.4% - - - - - HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Immunoglobulin CHL1 10752 genome.wustl.edu 37 3 405001 405001 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006614.2 +1 reviewed p.S507Y 0.039 173 0% 57 38.6% - - possibly_damaging(0.631) deleterious(0.03) deleterious(0.585) HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Immunoglobulin CHL1 10752 genome.wustl.edu 37 3 423871 423872 + In_Frame_Ins INS - - TCC novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006614.2 +1 reviewed p.632in_frame_insP 1.000:0.997 - - - - - - - - - HMMSmart_SM00060,superfamily_Fibronectin type III CHL1 10752 genome.wustl.edu 37 3 440699 440699 + Splice_Site SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006614.2 +1 reviewed e24-1 0.995 278 0.4% 80 26.3% - - - - - - CNTN6 27255 genome.wustl.edu 37 3 1415342 1415342 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014461.2 +1 reviewed p.S614Y 0.808 75 0% 18 50% - - benign(0.296) deleterious(0) deleterious(0.536) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like CNTN4 152330 genome.wustl.edu 37 3 2787375 2787375 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_175607.1 +1 reviewed p.F118V 1.000 133 0% 49 42.9% - - benign(0.008) deleterious(0.02) neutral(0.383) HMMSmart_SM00409,HMMPfam_I-set SUMF1 285362 genome.wustl.edu 37 3 4491009 4491009 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182760.3 -1 reviewed p.D154N 0.999 82 0% 54 31.5% - - possibly_damaging(0.592) tolerated(0.14) neutral(0.454) HMMPfam_DUF323 ITPR1 3708 genome.wustl.edu 37 3 4818994 4818994 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001099952.2 +1 reviewed p.A2028V 1.000 166 0.6% 55 25.5% - - probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_RIH_assoc ITPR1 3708 genome.wustl.edu 37 3 4856144 4856144 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001099952.2 +1 reviewed p.E2485D 1.000 98 0% 96 42.7% - - probably_damaging(0.99) deleterious(0.02) deleterious(0.825) HMMPfam_Ion_trans ARL8B 55207 genome.wustl.edu 37 3 5220412 5220412 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000419534 +1 known p.V146I 0.863 219 0% 166 38% - - unknown(0) tolerated(1) - HMMPfam_Arf LMCD1 29995 genome.wustl.edu 37 3 8579067 8579067 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014583.2 +1 reviewed p.D110Y 1.000 59 0% 39 46.2% - - probably_damaging(0.975) deleterious(0.01) deleterious(0.823) HMMPfam_PET SETD5 55209 genome.wustl.edu 37 3 9488937 9488937 + Silent SNP C C A rs191615401 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000399686 +1 known p.P244T 0.095 30 0% 16 25% - - - - - NULL LHFPL4 375323 genome.wustl.edu 37 3 9594358 9594358 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198560.2 -1 reviewed p.L2 1.000 8 0.000 30 0.267 - - - - - NULL MTMR14 64419 genome.wustl.edu 37 3 9726900 9726900 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001077525.2 +1 reviewed p.M378R 1.000 262 0% 232 38.4% - - possibly_damaging(0.925) tolerated(0.27) neutral(0.407) superfamily_(Phosphotyrosine protein) phosphatases II BRPF1 7862 genome.wustl.edu 37 3 9775987 9775987 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001003694.1 +1 reviewed p.Q55* 1.000 245 0% 402 30.8% - - - - - NULL FANCD2 2177 genome.wustl.edu 37 3 10138023 10138023 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033084.3 +1 reviewed p.T1351M 0.006 126 0% 55 30.9% - - possibly_damaging(0.522) tolerated(0.1) neutral(0.462) NULL SLC6A11 6538 genome.wustl.edu 37 3 10858058 10858058 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014229.1 +1 provisional p.A36 0.874 14 0% 21 23.8% - - - - - NULL SLC6A1 6529 genome.wustl.edu 37 3 11076362 11076362 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003042.3 +1 validated p.T558I 1.000 78 0% 93 36.6% - - possibly_damaging(0.92) tolerated(0.18) neutral(0.427) HMMPfam_SNF HRH1 3269 genome.wustl.edu 37 3 11301037 11301037 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000861.3 +1 reviewed p.S105Y 0.970 114 0% 93 35.5% - - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like HRH1 3269 genome.wustl.edu 37 3 11301577 11301577 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000861.3 +1 reviewed p.S285Y 0.000 78 0% 57 35.1% - - possibly_damaging(0.834) deleterious(0.02) deleterious(0.701) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like MKRN2 23609 genome.wustl.edu 37 3 12613701 12613701 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014160.3 +1 provisional p.D157 0.000 73 0% 58 32.8% - - - - - NULL RAF1 5894 genome.wustl.edu 37 3 12626680 12626680 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002880.3 -1 reviewed p.V537I 1.000 56 0% 42 14.3% - - probably_damaging(0.964) deleterious(0.01) deleterious(0.812) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CAND2 23066 genome.wustl.edu 37 3 12859014 12859014 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012298.2 +1 validated p.E768 1.000 35 0% 62 43.5% - - - - - HMMPfam_HEAT,superfamily_ARM-type_fold RPL32 6161 genome.wustl.edu 37 3 12880925 12880925 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000994.3 -1 reviewed p.K67 1.000 107 0% 102 35.3% - - - - - HMMPfam_Ribosomal_L32e,superfamily_Ribosomal protein L32e IQSEC1 9922 genome.wustl.edu 37 3 12950834 12950834 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014869.4 -1 validated p.F853L 1.000 170 0% 219 37% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00233,superfamily_PH domain-like IQSEC1 9922 genome.wustl.edu 37 3 12983224 12983224 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000450726 -1 known p.L70F 0.994 6 0.000 29 0.241 - - - - - NULL HDAC11 79885 genome.wustl.edu 37 3 13544469 13544469 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024827.3 +1 reviewed p.R213H 1.000 40 0% 81 13.6% - - benign(0.001) tolerated(0.79) neutral(0.001) HMMPfam_Hist_deacetyl,superfamily_SSF52768 WNT7A 7476 genome.wustl.edu 37 3 13916571 13916571 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004625.3 -1 reviewed p.D57 1.000 18 0% 38 44.7% - - - - - HMMPfam_wnt,HMMSmart_SM00097 TPRXL 348825 genome.wustl.edu 37 3 14105685 14105685 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000326972 +1 known p.H3 0.000 19 0% 16 37.5% - - - - - NULL XPC 7508 genome.wustl.edu 37 3 14209786 14209786 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004628.4 -1 reviewed p.T169 0.455 61 0% 44 38.6% - - - - - NULL GRIP2 80852 genome.wustl.edu 37 3 14567392 14567392 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080423.1 -1 provisional p.D126 0.000 22 0% 26 30.8% - - - - - NULL C3orf20 84077 genome.wustl.edu 37 3 14768418 14768418 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032137.4 +1 validated p.R526I 0.001 84 0% 43 34.9% - - possibly_damaging(0.528) deleterious(0.01) deleterious(0.584) NULL ZFYVE20 64145 genome.wustl.edu 37 3 15137576 15137576 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022340.2 -1 validated p.L18M 0.992 163 0% 153 35.3% - - possibly_damaging(0.698) deleterious(0.04) deleterious(0.600) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2 CAPN7 23473 genome.wustl.edu 37 3 15292515 15292515 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014296.2 +1 reviewed p.S761Y 0.431 257 0% 97 35.1% - - possibly_damaging(0.831) deleterious(0) deleterious(0.760) HMMPfam_Calpain_III,HMMSmart_calpain_III,superfamily_Peptidase_C2 METTL6 131965 genome.wustl.edu 37 3 15455585 15455585 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152396.2 -1 validated p.L206I 1.000 166 0% 71 29.6% - - benign(0.253) tolerated(0.51) neutral(0.035) superfamily_S-adenosyl-L-methionine-dependent methyltransferases BTD 686 genome.wustl.edu 37 3 15686416 15686416 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000060.2 +1 reviewed p.T351 0.000 29 0% 31 16.1% - - - - - NULL TBC1D5 9779 genome.wustl.edu 37 3 17349616 17349616 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001134381.1 -1 validated p.R336W 0.992 59 0% 18 44.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p SATB1 6304 genome.wustl.edu 37 3 18436062 18436062 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001131010.1 -1 validated p.S366 0.673 197 0% 55 38.2% - - - - - HMMPfam_CUT KCNH8 131096 genome.wustl.edu 37 3 19575320 19575320 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144633.2 +1 reviewed p.S1018Y 0.644 205 0% 60 40% - - benign(0.057) deleterious(0) neutral(0.448) NULL EFHB 151651 genome.wustl.edu 37 3 19975304 19975304 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144715.3 -1 validated p.G69 0.024 129 0% 62 24.2% - - - - - NULL SGOL1 151648 genome.wustl.edu 37 3 20212260 20212260 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001012410.2 -1 provisional p.S507Y 1.000 166 0% 35 42.9% - - probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL SGOL1 151648 genome.wustl.edu 37 3 20216495 20216495 + Splice_Site SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001012412.2 -1 provisional e5+2 0.148 104 0% 52 30.8% - - - - - - THRB 7068 genome.wustl.edu 37 3 24169121 24169121 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000461.4 -1 reviewed p.R338Q 1.000 83 0% 39 48.7% - - probably_damaging(0.983) deleterious(0.02) deleterious(0.812) HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain THRB 7068 genome.wustl.edu 37 3 24185144 24185144 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000461.4 -1 reviewed p.R196W 1.000 160 0% 36 36.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Glucocorticoid receptor-like (DNA-binding domain) THRB 7068 genome.wustl.edu 37 3 24231770 24231770 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000461.4 -1 reviewed p.D26 0.939 241 0% 44 40.9% - - unknown(0) - - NULL TOP2B 7155 genome.wustl.edu 37 3 25666223 25666223 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001068.2 -1 reviewed p.A761T 1.000 122 0% 34 32.4% - - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_DNA_topoisoIV,HMMSmart_TOP4c,superfamily_Topo_IIA_cen TOP2B 7155 genome.wustl.edu 37 3 25674003 25674003 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001068.2 -1 reviewed p.E395D 1.000 87 0% 28 28.6% - - possibly_damaging(0.728) deleterious(0.02) deleterious(0.648) HMMSmart_TOP2c,HMMPfam_DNA_gyraseB,superfamily_Ribosomal_S5_D2-typ_fold TOP2B 7155 genome.wustl.edu 37 3 25686790 25686790 + Splice_Site SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001068.2 -1 reviewed e2+1 1.000 186 0% 68 38.2% - - - - - - NGLY1 55768 genome.wustl.edu 37 3 25770719 25770719 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018297.3 -1 reviewed p.R506* 0.999 168 0% 43 30.2% - - - - - HMMSmart_SM00613 NEK10 152110 genome.wustl.edu 37 3 27216180 27216180 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000396636 -1 known p.L884M 0.841 61 0% 41 36.6% - - probably_damaging(0.995) deleterious(0.04) deleterious(0.806) NULL NEK10 152110 genome.wustl.edu 37 3 27216186 27216186 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000396636 -1 known p.E882K 0.880 63 0% 41 34.1% - - benign(0.086) tolerated(0.25) neutral(0.043) NULL NEK10 152110 genome.wustl.edu 37 3 27343254 27343254 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_199347.2 -1 validated p.Q367H 1.000 91 0% 36 44.4% - - benign(0.002) tolerated(0.28) neutral(0.032) superfamily_ARM repeat NEK10 152110 genome.wustl.edu 37 3 27385817 27385817 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_199347.2 -1 validated p.R103H 1.000 248 0% 58 25.9% - - benign(0) tolerated(0.53) neutral(0.007) superfamily_ARM repeat SLC4A7 9497 genome.wustl.edu 37 3 27463228 27463228 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003615.3 -1 validated p.A428S 1.000 51 2% 26 19.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Band_3_cyto,superfamily_Phoshotransferase/anion transport protein RBMS3 27303 genome.wustl.edu 37 3 29781260 29781260 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001003793.2 +1 reviewed p.S150Y 1.000 176 0% 71 45.1% - - possibly_damaging(0.909) tolerated(0.06) deleterious(0.684) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD RBMS3 27303 genome.wustl.edu 37 3 30029683 30029683 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001003793.2 +1 reviewed p.T383M 1.000 111 0% 59 35.6% - - probably_damaging(0.961) deleterious(0.01) deleterious(0.810) NULL TGFBR2 7048 genome.wustl.edu 37 3 30691813 30691813 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001024847.2 +1 reviewed p.K130 0.000 118 0% 53 37.7% - - - - - HMMPfam_ecTbetaR2,superfamily_Snake toxin-like GADL1 339896 genome.wustl.edu 37 3 30891511 30891511 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_207359.2 -1 validated p.L210V 1.000 134 0% 35 31.4% - - benign(0.089) deleterious(0) neutral(0.451) HMMPfam_Pyridoxal_deC,superfamily_PLP-dependent transferases OSBPL10 114884 genome.wustl.edu 37 3 31710204 31710204 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017784.4 -1 reviewed p.D676N 1.000 318 0% 161 35.4% - - probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMPfam_Oxysterol_BP ZNF860 344787 genome.wustl.edu 37 3 32030659 32030659 + Missense_Mutation SNP G G A rs191554699 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001137674.1 +1 provisional p.A30T 0.994 225 0% 124 33.1% - - probably_damaging(0.992) deleterious(0.01) deleterious(0.853) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box TRIM71 131405 genome.wustl.edu 37 3 32933128 32933128 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001039111.1 +1 provisional p.A811V 1.000 33 0% 48 33.3% - - probably_damaging(0.993) deleterious(0.02) deleterious(0.833) HMMPfam_NHL,superfamily_SSF101898 GLB1 2720 genome.wustl.edu 37 3 33038620 33038620 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000404.2 -1 reviewed p.D651N 0.000 86 0% 66 39.4% - - benign(0.256) tolerated(0.25) neutral(0.064) NULL TMPPE 643853 genome.wustl.edu 37 3 33135227 33135227 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001039770.2 -1 validated p.G154D 0.776 45 0% 60 38.3% - - benign(0.167) tolerated(0.37) neutral(0.034) NULL CLASP2 23122 genome.wustl.edu 37 3 33728567 33728567 + Silent SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015097.1 -1 validated p.G177 1.000 72 0% 48 18.8% - - - - - HMMPfam_HEAT,superfamily_ARM repeat DCLK3 85443 genome.wustl.edu 37 3 36778755 36778755 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033403.1 -1 validated p.V466I 0.999 100 0% 85 29.4% - - probably_damaging(0.983) tolerated(0.08) deleterious(0.729) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase TRANK1 9881 genome.wustl.edu 37 3 36873447 36873447 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014831.2 -1 provisional p.V1949I 0.996 113 0% 65 36.9% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL TRANK1 9881 genome.wustl.edu 37 3 36893770 36893770 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014831.2 -1 provisional p.R945H 1.000 118 0% 58 46.6% - - possibly_damaging(0.727) tolerated(0.49) neutral(0.275) superfamily_P-loop containing nucleoside triphosphate hydrolases LRRFIP2 9209 genome.wustl.edu 37 3 37116608 37116608 + Splice_Site SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006309.2 -1 validated e19-1 1.000 196 0% 65 36.9% - - - - - - LRRFIP2 9209 genome.wustl.edu 37 3 37152483 37152483 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006309.2 -1 validated p.R171Q 1.000 117 0% 61 32.8% - - possibly_damaging(0.854) deleterious(0) deleterious(0.774) HMMPfam_DUF2051 DLEC1 9940 genome.wustl.edu 37 3 38139105 38139105 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007337.2 +1 reviewed p.L848 0.224 75 0% 57 26.3% - - - - - NULL OXSR1 9943 genome.wustl.edu 37 3 38257635 38257635 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005109.2 +1 reviewed p.Q161H 1.000 226 0% 87 13.8% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase SLC22A13 9390 genome.wustl.edu 37 3 38318922 38318922 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004256.3 +1 reviewed p.P541L 0.000 110 0% 100 41% - - benign(0.011) tolerated(0.36) neutral(0.021) NULL SLC22A14 9389 genome.wustl.edu 37 3 38347757 38347757 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004803.3 +1 validated p.S80 0.000 100 0% 57 35.1% - - - - - NULL ACVR2B 93 genome.wustl.edu 37 3 38522888 38522888 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001106.3 +1 reviewed p.V336M 0.966 76 0% 69 46.4% - - possibly_damaging(0.95) deleterious(0) deleterious(0.838) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SCN5A 6331 genome.wustl.edu 37 3 38627239 38627239 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001099404.1 -1 reviewed p.S910 0.769 137 0% 114 36.8% - - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN10A 6336 genome.wustl.edu 37 3 38743423 38743423 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006514.2 -1 validated p.E1522K 1.000 135 0% 41 46.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_SSF81324 SCN10A 6336 genome.wustl.edu 37 3 38783942 38783942 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006514.2 -1 validated p.P649L 0.979 56 0% 48 39.6% - - probably_damaging(1) tolerated(0.08) deleterious(0.800) NULL WDR48 57599 genome.wustl.edu 37 3 39126197 39126197 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020839.2 +1 provisional p.A448D 1.000 126 0% 85 41.2% - - possibly_damaging(0.689) deleterious(0.01) deleterious(0.652) NULL TTC21A 199223 genome.wustl.edu 37 3 39167796 39167796 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001105513.2 +1 validated p.V487 0.000 88 0% 82 36.6% - - - - - NULL XIRP1 165904 genome.wustl.edu 37 3 39229286 39229286 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_194293.2 -1 provisional p.R551W 0.992 32 0% 40 37.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Xin MYRIP 25924 genome.wustl.edu 37 3 40204302 40204302 + Splice_Site SNP G G C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015460.2 +1 validated e4+1 1.000 139 0.7% 77 37.7% - - - - - - RPL14 9045 genome.wustl.edu 37 3 40499048 40499048 + Missense_Mutation SNP C C G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000435633 +1 known p.A29G 0.994 4 0.000 10 0.600 - - unknown(0) - - NULL RPL14 9045 genome.wustl.edu 37 3 40499409 40499409 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001034996.1 +1 reviewed p.R11L 1.000 186 0% 287 40.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CTNNB1 1499 genome.wustl.edu 37 3 41266972 41266972 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001098209.1 +1 reviewed p.A215T 1.000 175 0% 35 34.3% - - benign(0.008) tolerated(0.5) neutral(0.010) HMMSmart_SM00185,superfamily_ARM repeat CTNNB1 1499 genome.wustl.edu 37 3 41280695 41280695 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001098209.1 +1 reviewed p.E736 0.997 54 0% 19 31.6% - - - - - NULL LYZL4 131375 genome.wustl.edu 37 3 42448647 42448647 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144634.2 -1 provisional p.D33N 0.000 99 0% 78 29.5% - - benign(0.15) tolerated(0.13) neutral(0.266) HMMPfam_Lys,HMMSmart_LYZ1,superfamily_SSF53955 NKTR 4820 genome.wustl.edu 37 3 42660574 42660574 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005385.3 +1 reviewed p.R66C 1.000 242 0% 69 14.5% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_Pro_isomerase,PatternScan_CSA_PPIASE_1,superfamily_CSA_PPIase NKTR 4820 genome.wustl.edu 37 3 42674135 42674135 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005385.3 +1 reviewed p.S198L 1.000 110 0.9% 34 41.2% - - possibly_damaging(0.662) deleterious(0.01) deleterious(0.640) NULL NKTR 4820 genome.wustl.edu 37 3 42678627 42678627 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005385.3 +1 reviewed p.S477 0.861 63 0% 23 43.5% - - - - - NULL NKTR 4820 genome.wustl.edu 37 3 42680224 42680224 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005385.3 +1 reviewed p.R1010* 1.000 34 0% 28 32.1% - - - - - NULL LOC100287203 100287203 genome.wustl.edu 37 3 42727046 42727046 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002342329.1 -1 model p.L363M 0.973 11 0% 13 46.2% - - - - - NULL KBTBD5 131377 genome.wustl.edu 37 3 42727784 42727784 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152393.2 +1 validated p.R225H 1.000 21 0% 34 35.3% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_BACK LOC100287203 100287203 genome.wustl.edu 37 3 42728247 42728247 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002342329.1 -1 model p.A186T 0.707 7 0.000 18 0.333 - - - - - NULL HIGD1A 25994 genome.wustl.edu 37 3 42827602 42827602 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001099668.1 -1 validated p.S64R 0.995 48 0% 31 38.7% - - possibly_damaging(0.946) tolerated(0.46) neutral(0.402) HMMPfam_HIG_1_N ZNF662 389114 genome.wustl.edu 37 3 42956704 42956704 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001134656.1 +1 validated p.R406I 1.000 131 0% 104 43.3% - - benign(0.022) deleterious(0) neutral(0.446) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SNRK 54861 genome.wustl.edu 37 3 43389714 43389714 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001100594.1 +1 validated p.G655S 0.990 40 0% 44 34.1% - - benign(0.017) tolerated(0.29) neutral(0.030) NULL SNRK 54861 genome.wustl.edu 37 3 43389823 43389823 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001100594.1 +1 validated p.S691F 1.000 106 0% 90 38.9% - - possibly_damaging(0.688) deleterious(0) deleterious(0.691) NULL ANO10 55129 genome.wustl.edu 37 3 43618744 43618744 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018075.3 -1 validated p.R201H 0.999 31 0% 13 38.5% - - possibly_damaging(0.924) tolerated(0.14) deleterious(0.623) NULL C3orf77 375337 genome.wustl.edu 37 3 44328962 44328962 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001145030.1 +1 validated p.S1173Y 1.000 92 0% 38 44.7% - - probably_damaging(0.983) deleterious(0) deleterious(0.873) NULL ZNF445 353274 genome.wustl.edu 37 3 44488563 44488563 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_181489.5 -1 validated p.R867H 0.996 181 0% 87 35.6% - - probably_damaging(1) tolerated(0.07) deleterious(0.819) superfamily_SSF57667 ZNF445 353274 genome.wustl.edu 37 3 44489731 44489731 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_181489.5 -1 validated p.L478I 0.012 182 0% 134 12.7% - - benign(0.39) tolerated(1) neutral(0.125) superfamily_SSF57667 ZNF852 285346 genome.wustl.edu 37 3 44541406 44541406 + Missense_Mutation SNP C C T rs186660651 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000436261 -1 known p.R288Q 0.001 92 0% 53 34% - - possibly_damaging(0.696) tolerated(1) neutral(0.249) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF852 285346 genome.wustl.edu 37 3 44541800 44541800 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000436261 -1 known p.K157Q 1.000 57 0% 40 17.5% - - possibly_damaging(0.865) deleterious(0.02) deleterious(0.718) superfamily_C2H2 and C2HC zinc fingers ZNF197 10168 genome.wustl.edu 37 3 44685350 44685350 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006991.3 +1 reviewed p.D910Y 1.000 91 0% 39 33.3% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF502 91392 genome.wustl.edu 37 3 44763689 44763689 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001134440.1 +1 validated p.E460D 1.000 164 0% 96 42.7% - - benign(0.167) deleterious(0.02) neutral(0.398) superfamily_SSF57667 ZNF501 115560 genome.wustl.edu 37 3 44776442 44776442 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_145044.2 +1 validated p.L177F 0.843 154 0% 103 35.9% - - probably_damaging(1) tolerated(0.05) deleterious(0.845) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers KIF15 56992 genome.wustl.edu 37 3 44856463 44856463 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020242.2 +1 validated p.S815F 1.000 170 0% 125 29.6% - - possibly_damaging(0.843) deleterious(0.03) deleterious(0.688) NULL TMEM42 131616 genome.wustl.edu 37 3 44905741 44905741 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144638.1 +1 provisional p.S82Y 0.712 300 0% 410 31.7% - - probably_damaging(0.995) deleterious(0.03) deleterious(0.822) NULL TGM4 7047 genome.wustl.edu 37 3 44926842 44926842 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003241.3 +1 validated p.F15L 0.001 74 0% 63 33.3% - - benign(0.15) tolerated(0.2) neutral(0.062) HMMPfam_Transglut_N,superfamily_Ig_E-set TGM4 7047 genome.wustl.edu 37 3 44935130 44935130 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003241.3 +1 validated p.G164 0.051 99 0% 95 40% - - - - - superfamily_SSF54001 CLEC3B 7123 genome.wustl.edu 37 3 45077070 45077070 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003278.2 +1 validated p.T88M 0.002 21 0% 34 38.2% - - benign(0.279) tolerated(0.23) neutral(0.072) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like LARS2 23395 genome.wustl.edu 37 3 45533121 45533121 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015340.3 +1 reviewed p.R451Q 0.972 122 0% 66 34.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_tRNA-synt_1,superfamily_ValRS_IleRS_edit,superfamily_SSF52374 LIMD1 8994 genome.wustl.edu 37 3 45714214 45714214 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014240.2 +1 validated p.P558 0.007 105 0% 100 39% - - - - - HMMPfam_LIM,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,superfamily_SSF57716 SLC6A20 54716 genome.wustl.edu 37 3 45812903 45812903 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020208.3 -1 reviewed p.Q247H 1.000 152 0% 156 10.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SNF SLC6A20 54716 genome.wustl.edu 37 3 45823693 45823693 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020208.3 -1 reviewed p.I48 0.989 66 0% 69 36.2% - - - - - HMMPfam_SNF CCR1 1230 genome.wustl.edu 37 3 46245399 46245399 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001295.2 -1 reviewed p.V136I 1.000 98 0% 42 38.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CCR3 1232 genome.wustl.edu 37 3 46307487 46307487 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001837.3 +1 reviewed p.D280N 0.236 107 0% 54 37% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 TDGF1 6997 genome.wustl.edu 37 3 46621452 46621452 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003212.3 +1 reviewed p.S117Y 0.001 87 0% 79 36.7% - - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMPfam_CFC ALS2CL 259173 genome.wustl.edu 37 3 46717764 46717764 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_147129.2 -1 validated p.Q719 0.997 32 0% 49 12.2% - - - - - superfamily_VPS9 domain (Pfam 02204) PRSS50 29122 genome.wustl.edu 37 3 46755806 46755806 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013270.4 -1 validated p.S219I 0.068 53 0% 86 39.5% - - probably_damaging(0.979) deleterious(0.01) deleterious(0.828) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys PTH1R 5745 genome.wustl.edu 37 3 46939867 46939867 + Splice_Site SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000316.2 +1 reviewed e6-1 1.000 29 0% 79 16.5% - - - - - - PTH1R 5745 genome.wustl.edu 37 3 46940059 46940059 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000313063 +1 known p.A380 0.000 16 0% 41 48.8% - - - - - HMMPfam_7tm_2 NBEAL2 23218 genome.wustl.edu 37 3 47030652 47030652 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015175.1 +1 validated p.A116V 0.014 65 0% 146 37% - - possibly_damaging(0.84) tolerated(0.18) neutral(0.378) NULL NBEAL2 23218 genome.wustl.edu 37 3 47042644 47042644 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015175.1 +1 validated p.R1487C 1.000 109 0% 166 39.8% - - possibly_damaging(0.952) deleterious(0.01) deleterious(0.801) NULL SETD2 29072 genome.wustl.edu 37 3 47061295 47061295 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014159.6 -1 reviewed p.T2462 0.998 558 0% 309 11.3% - - - - - HMMPfam_SRI_2 SETD2 29072 genome.wustl.edu 37 3 47164908 47164908 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014159.6 -1 reviewed p.H406Q 0.993 91 0% 32 37.5% - - benign(0) deleterious(0) neutral(0.445) NULL KLHL18 23276 genome.wustl.edu 37 3 47385167 47385167 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025010.4 +1 validated p.G487 1.000 44 0% 42 40.5% - - - - - HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain CSPG5 10675 genome.wustl.edu 37 3 47619018 47619018 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006574.3 -1 validated p.E166D 0.185 14 0% 36 38.9% - - possibly_damaging(0.751) deleterious(0) deleterious(0.720) HMMPfam_Chon_Sulph_att SMARCC1 6599 genome.wustl.edu 37 3 47727553 47727553 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003074.3 -1 validated p.W457C 1.000 123 0% 89 22.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SWIRM DHX30 22907 genome.wustl.edu 37 3 47890791 47890791 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138615.2 +1 reviewed p.E1013D 1.000 20 0% 71 38% - - benign(0.043) tolerated(0.25) neutral(0.040) HMMPfam_DUF1605 MAP4 4134 genome.wustl.edu 37 3 47957625 47957625 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002375.4 -1 reviewed p.L564 0.002 173 0% 87 35.6% - - - - - NULL MAP4 4134 genome.wustl.edu 37 3 47957822 47957822 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002375.4 -1 reviewed p.E499* 0.007 196 0% 107 34.6% - - - - - NULL NME6 10201 genome.wustl.edu 37 3 48337618 48337618 + Missense_Mutation SNP A A T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005793.3 -1 provisional p.F83Y 1.000 108 0% 122 34.4% - - possibly_damaging(0.521) tolerated(0.1) neutral(0.462) HMMPfam_NDK,HMMSmart_SM00562,superfamily_Nucleoside diphosphate kinases PLXNB1 5364 genome.wustl.edu 37 3 48454504 48454504 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001130082.1 -1 validated p.R1537Q 1.000 109 0% 184 37% - - probably_damaging(0.998) deleterious(0.05) deleterious(0.820) NULL PLXNB1 5364 genome.wustl.edu 37 3 48459662 48459662 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001130082.1 -1 validated p.R1054W 0.177 30 0% 50 34% - - possibly_damaging(0.952) deleterious(0.01) deleterious(0.801) HMMPfam_PSI,HMMSmart_SM00423 COL7A1 1294 genome.wustl.edu 37 3 48603707 48603707 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000094.3 -1 reviewed p.Q2800 1.000 32 0% 76 34.2% - - - - - NULL COL7A1 1294 genome.wustl.edu 37 3 48625746 48625746 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000094.3 -1 reviewed p.A893 0.000 6 0.000 37 0.459 - - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III SLC25A20 788 genome.wustl.edu 37 3 48896629 48896629 + Missense_Mutation SNP C C T rs149062915 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000387.4 -1 reviewed p.S205N 0.962 59 0% 69 30.4% - - benign(0) tolerated(0.26) neutral(0.034) superfamily_Mitoch_carrier QRICH1 54870 genome.wustl.edu 37 3 49114382 49114382 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017730.2 -1 validated p.P23 0.478 107 0% 113 41.6% - - - - - NULL LAMB2 3913 genome.wustl.edu 37 3 49159213 49159213 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002292.3 -1 reviewed p.E1668 0.990 78 0% 169 37.3% - - - - - NULL KLHDC8B 200942 genome.wustl.edu 37 3 49210370 49210370 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173546.1 +1 provisional p.S56 0.652 27 0% 70 40% - - - - - HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central KLHDC8B 200942 genome.wustl.edu 37 3 49210567 49210567 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173546.1 +1 provisional p.T122N 0.951 18 0% 48 29.2% - - possibly_damaging(0.646) deleterious(0.02) deleterious(0.610) HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central CCDC36 339834 genome.wustl.edu 37 3 49294495 49294495 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001135197.1 +1 validated p.P522H 0.009 57 0% 58 32.8% - - possibly_damaging(0.861) tolerated(0.18) neutral(0.389) NULL C3orf62 375341 genome.wustl.edu 37 3 49308715 49308715 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198562.2 -1 validated p.G234 0.000 87 0% 100 42% - - - - - NULL DAG1 1605 genome.wustl.edu 37 3 49568591 49568591 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004393.4 +1 reviewed p.S216I 0.259 108 0% 134 39.6% - - benign(0.393) tolerated(0.15) neutral(0.367) HMMPfam_DAG1,superfamily_SSF111006 BSN 8927 genome.wustl.edu 37 3 49662452 49662452 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003458.3 +1 reviewed p.R90I 1.000 26 0% 30 46.7% - - probably_damaging(0.959) - - NULL BSN 8927 genome.wustl.edu 37 3 49694787 49694787 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003458.3 +1 reviewed p.R2600W 0.975 24 0% 49 32.7% - - unknown(0) - - NULL BSN 8927 genome.wustl.edu 37 3 49699985 49699985 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003458.3 +1 reviewed p.S3569 0.948 13 0% 42 38.1% - - - - - NULL BSN 8927 genome.wustl.edu 37 3 49700396 49700396 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003458.3 +1 reviewed p.A3602V 1.000 41 0% 80 30% - - unknown(0) - - NULL CDHR4 389118 genome.wustl.edu 37 3 49831072 49831072 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001007540.2 -1 provisional p.D523Y 1.000 181 0% 234 48.3% - - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like CDHR4 389118 genome.wustl.edu 37 3 49832649 49832649 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001007540.2 -1 provisional p.R337 0.223 37 0% 60 38.3% - - - - - superfamily_Cadherin-like SEMA3F 6405 genome.wustl.edu 37 3 50220414 50220414 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004186.3 +1 validated p.P327 0.043 47 0% 98 32.7% - - - - - HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema GNAI2 2771 genome.wustl.edu 37 3 50295033 50295033 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002070.2 +1 reviewed p.A327T 1.000 30 0% 53 34% - - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_G-alpha,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases RASSF1 11186 genome.wustl.edu 37 3 50369110 50369110 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_170714.1 -1 reviewed p.L218M 1.000 19 0% 53 34% - - probably_damaging(0.991) - - HMMPfam_RA,HMMSmart_SM00314 ZMYND10 51364 genome.wustl.edu 37 3 50379839 50379839 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015896.2 -1 validated p.R288W 1.000 119 0% 185 32.4% - - possibly_damaging(0.747) deleterious(0.01) deleterious(0.679) NULL TMEM115 11070 genome.wustl.edu 37 3 50392814 50392814 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007024.4 -1 validated p.S339F 1.000 58 0% 95 30.5% - - probably_damaging(0.981) deleterious(0.03) deleterious(0.790) NULL MAPKAPK3 7867 genome.wustl.edu 37 3 50681894 50681894 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004635.3 +1 reviewed p.D187N 1.000 128 0% 99 35.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase DOCK3 1795 genome.wustl.edu 37 3 51264805 51264805 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004947.3 +1 validated p.I490S 1.000 123 0% 54 33.3% - - benign(0.007) tolerated(0.06) neutral(0.323) NULL DOCK3 1795 genome.wustl.edu 37 3 51394453 51394453 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004947.3 +1 validated p.R1522C 1.000 54 0% 32 34.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ded_cyto RBM15B 29890 genome.wustl.edu 37 3 51430840 51430840 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013286.3 +1 validated p.H670 0.079 37 0% 53 41.5% - - - - - NULL VPRBP 9730 genome.wustl.edu 37 3 51456222 51456222 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014703.2 -1 validated p.G1062 1.000 51 0% 40 37.5% - - - - - superfamily_WD40 repeat-like RAD54L2 23132 genome.wustl.edu 37 3 51675865 51675865 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015106.2 +1 validated p.R778* 1.000 202 0% 82 41.5% - - - - - HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases GRM2 2912 genome.wustl.edu 37 3 51746633 51746633 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000839.3 +1 reviewed p.L199I 1.000 136 0% 188 36.2% - - probably_damaging(0.966) tolerated(0.19) neutral(0.457) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I IQCF1 132141 genome.wustl.edu 37 3 51928970 51928970 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152397.2 -1 validated p.E185G 0.996 38 0% 37 54.1% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL PARP3 10039 genome.wustl.edu 37 3 51979514 51979514 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001003931.2 +1 reviewed p.L296M 1.000 14 0% 41 39% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_PARP_reg,superfamily_PARP_reg ACY1 95 genome.wustl.edu 37 3 52019951 52019951 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000666.1 +1 reviewed p.C116 1.000 88 0% 161 47.2% - - - - - PatternScan_ARGE_DAPE_CPG2_2,HMMPfam_Peptidase_M20,superfamily_SSF53187 ENSG00000173366 0 genome.wustl.edu 37 3 52256010 52256010 + Silent SNP C C G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000494383 -1 known p.A928P 1.000 14 0% 37 27% - - - - - superfamily_L domain-like DNAH1 25981 genome.wustl.edu 37 3 52356582 52356582 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015512.4 +1 validated p.L42F 0.000 71 0% 133 36.1% - - benign(0) deleterious(0) neutral(0.445) NULL DNAH1 25981 genome.wustl.edu 37 3 52398910 52398910 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015512.4 +1 validated p.L1798R 1.000 43 0% 97 20.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH1 25981 genome.wustl.edu 37 3 52414034 52414034 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015512.4 +1 validated p.M2497I 0.987 41 0% 104 44.2% - - benign(0.004) tolerated(0.57) neutral(0.006) superfamily_P-loop containing nucleoside triphosphate hydrolases STAB1 23166 genome.wustl.edu 37 3 52554519 52554519 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015136.2 +1 reviewed p.G1868D 0.999 40 0% 76 40.8% - - benign(0.001) tolerated(0.37) neutral(0.019) superfamily_FAS1 domain GLT8D1 55830 genome.wustl.edu 37 3 52734314 52734314 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001010983.1 -1 reviewed p.L27I 1.000 148 0% 150 37.3% - - possibly_damaging(0.892) tolerated(0.05) deleterious(0.697) NULL NEK4 6787 genome.wustl.edu 37 3 52773517 52773517 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003157.3 -1 validated p.R743W 0.994 199 0% 129 38% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ITIH3 3699 genome.wustl.edu 37 3 52835039 52835039 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002217.3 +1 validated p.F420 0.998 128 0% 163 46.6% - - - - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like ITIH4 3700 genome.wustl.edu 37 3 52847991 52847991 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002218.4 -1 reviewed p.R908I 1.000 31 0% 47 31.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ITI_HC_C SFMBT1 51460 genome.wustl.edu 37 3 52964380 52964380 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005158.1 -1 reviewed p.S288P 1.000 100 1% 60 43.3% - - benign(0.266) tolerated(0.06) neutral(0.351) HMMPfam_MBT,HMMSmart_SM00561,superfamily_Tudor/PWWP/MBT RFT1 91869 genome.wustl.edu 37 3 53126417 53126417 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_052859.3 -1 reviewed p.A476T 0.066 82 0% 71 35.2% - - benign(0.025) tolerated(0.07) neutral(0.320) HMMPfam_Rft-1 CACNA1D 776 genome.wustl.edu 37 3 53844234 53844234 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000720.2 +1 validated p.R2054Q 1.000 36 2.8% 53 30.2% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CACNA1D 776 genome.wustl.edu 37 3 53845394 53845394 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000720.2 +1 validated p.E2169D 1.000 25 0% 34 35.3% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL WNT5A 7474 genome.wustl.edu 37 3 55504094 55504094 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000442038 -1 known p.P122 0.000 28 0% 42 35.7% - - - - - NULL ERC2 26059 genome.wustl.edu 37 3 55733530 55733530 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015576.1 -1 validated p.R908I 1.000 151 0% 48 39.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cast CCDC66 285331 genome.wustl.edu 37 3 56651505 56651505 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001141947.1 +1 validated p.E737K 1.000 99 0% 57 35.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL FAM208A 23272 genome.wustl.edu 37 3 56667372 56667372 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001112736.1 -1 validated p.E1149 0.999 166 0% 76 34.2% - - - - - NULL ARHGEF3 50650 genome.wustl.edu 37 3 56771257 56771257 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001128615.1 -1 reviewed p.R365* 0.161 65 0% 35 22.9% - - - - - HMMSmart_PH,superfamily_SSF50729 IL17RD 54756 genome.wustl.edu 37 3 57139902 57139902 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017563.3 -1 validated p.R244* 0.997 85 0% 64 40.6% - - - - - NULL APPL1 26060 genome.wustl.edu 37 3 57269634 57269634 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012096.2 +1 reviewed p.A32V 1.000 165 0% 91 22% - - possibly_damaging(0.935) tolerated(0.06) deleterious(0.703) NULL APPL1 26060 genome.wustl.edu 37 3 57283420 57283420 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012096.2 +1 reviewed p.R299K 1.000 144 0% 86 43% - - benign(0.209) deleterious(0) neutral(0.465) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 DNAH12 201625 genome.wustl.edu 37 3 57454638 57454638 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178504.4 -1 validated p.R725Q 1.000 115 0% 35 28.6% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_DHC_N2 DNAH12 201625 genome.wustl.edu 37 3 57457255 57457255 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178504.4 -1 validated p.E619* 0.005 262 0% 119 42.9% - - - - - NULL SLMAP 7871 genome.wustl.edu 37 3 57875801 57875801 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007159.2 +1 validated p.A411V 0.999 162 0% 77 36.4% - - benign(0) tolerated(0.4) neutral(0.016) NULL FLNB 2317 genome.wustl.edu 37 3 57994483 57994483 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001457.3 +1 reviewed p.R64 1.000 36 0% 75 12% - - - - - HMMPfam_CH,HMMSmart_CH,superfamily_Calponin-homology FLNB 2317 genome.wustl.edu 37 3 58090907 58090907 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001457.3 +1 reviewed p.V571M 1.000 172 0% 97 13.4% - - possibly_damaging(0.912) deleterious(0.03) deleterious(0.728) HMMSmart_IG_FLMN,superfamily_Ig_E-set,HMMPfam_Filamin FLNB 2317 genome.wustl.edu 37 3 58117681 58117681 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000490882 +1 known p.R1473H 1.000 69 0% 91 31.9% - - probably_damaging(0.979) tolerated(0.12) deleterious(0.682) HMMSmart_IG_FLMN,superfamily_Ig_E-set,HMMPfam_Filamin FLNB 2317 genome.wustl.edu 37 3 58131710 58131710 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001457.3 +1 reviewed p.G1830C 1.000 133 0% 114 30.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_IG_FLMN,superfamily_Ig_E-set,HMMPfam_Filamin FLNB 2317 genome.wustl.edu 37 3 58132722 58132722 + Splice_Site SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001457.3 +1 reviewed e34+2 1.000 103 0% 81 12.3% - - - - - - FLNB 2317 genome.wustl.edu 37 3 58133991 58133991 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001457.3 +1 reviewed p.D1929 1.000 43 0% 40 12.5% - - - - - HMMSmart_IG_FLMN,superfamily_Ig_E-set KCTD6 200845 genome.wustl.edu 37 3 58487334 58487334 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001128214.1 +1 validated p.R230M 0.923 34 0% 18 33.3% - - benign(0.345) deleterious(0) deleterious(0.553) NULL ACOX2 8309 genome.wustl.edu 37 3 58516224 58516224 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003500.3 -1 reviewed p.V321I 0.171 56 0% 68 38.2% - - benign(0.009) tolerated(0.13) neutral(0.253) superfamily_AcylCoADH_C_like FAM107A 11170 genome.wustl.edu 37 3 58552895 58552895 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000464064 -1 known p.G123W 0.000 13 0% 14 35.7% - - benign(0.291) deleterious(0) deleterious(0.534) HMMPfam_DUF1151 C3orf14 57415 genome.wustl.edu 37 3 62317001 62317001 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020685.3 +1 predicted p.D60G 1.000 129 0% 40 32.5% - - possibly_damaging(0.951) deleterious(0) deleterious(0.839) NULL CADPS 8618 genome.wustl.edu 37 3 62739423 62739423 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003716.3 -1 reviewed p.A194V 1.000 28 0% 17 41.2% - - benign(0.122) tolerated(0.64) neutral(0.013) NULL PRICKLE2 166336 genome.wustl.edu 37 3 64184496 64184496 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198859.3 -1 validated p.E36 1.000 66 0% 28 39.3% - - - - - HMMPfam_PET MAGI1 9223 genome.wustl.edu 37 3 65342645 65342645 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001033057.1 -1 reviewed p.P1266L 0.863 218 0% 350 33.7% - - benign(0.001) tolerated(0.73) neutral(0.002) NULL MAGI1 9223 genome.wustl.edu 37 3 65433695 65433695 + Splice_Site SNP A A T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001033057.1 -1 reviewed e7+2 1.000 95 0% 44 18.2% - - - - - - FAM19A1 407738 genome.wustl.edu 37 3 68466492 68466492 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_213609.2 +1 reviewed p.R61W 1.000 123 0% 30 23.3% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL MITF 4286 genome.wustl.edu 37 3 70014333 70014333 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198159.2 +1 reviewed p.P499 0.000 100 0% 44 20.5% - - - - - NULL SHQ1 55164 genome.wustl.edu 37 3 72864529 72864529 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018130.2 -1 validated p.K303T 1.000 266 0% 110 29.1% - - probably_damaging(0.974) tolerated(0.07) deleterious(0.735) HMMPfam_SHQ1 PDZRN3 23024 genome.wustl.edu 37 3 73453428 73453428 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015009.1 -1 provisional p.T346M 0.988 170 0% 81 35.8% - - possibly_damaging(0.836) deleterious(0.04) deleterious(0.668) superfamily_PDZ domain-like ROBO2 6092 genome.wustl.edu 37 3 77600082 77600082 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001128929.1 +1 reviewed p.P372S 1.000 75 0% 30 33.3% - - - - - NULL ROBO2 6092 genome.wustl.edu 37 3 77666831 77666831 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001128929.1 +1 reviewed p.Y1134* 1.000 64 0% 21 33.3% - - benign(0.134) deleterious(0.01) neutral(0.417) NULL ROBO1 6091 genome.wustl.edu 37 3 78700930 78700930 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002941.3 -1 reviewed p.R922C 1.000 87 0% 28 42.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ROBO1 6091 genome.wustl.edu 37 3 79174695 79174695 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000305299 -1 known p.P5L 1.000 163 0% 41 46.3% - - - - - NULL GBE1 2632 genome.wustl.edu 37 3 81643118 81643118 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000264326 -1 known p.R350H 0.990 160 0% 21 28.6% - - benign(0) tolerated(0.67) neutral(0.003) HMMSmart_SM00642,superfamily_(Trans)glycosidases VGLL3 389136 genome.wustl.edu 37 3 87017961 87017961 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016206.2 -1 validated p.R239H 1.000 104 0% 65 27.7% - - benign(0.001) tolerated(0.62) neutral(0.004) NULL PROS1 5627 genome.wustl.edu 37 3 93593206 93593206 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000313.3 -1 reviewed p.G638 1.000 158 0% 80 15% - - - - - HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 NSUN3 63899 genome.wustl.edu 37 3 93803123 93803123 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022072.3 +1 provisional p.R99* 0.078 161 0% 67 23.9% - - - - - superfamily_SSF53335 EPHA6 285220 genome.wustl.edu 37 3 96706727 96706727 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080448.2 +1 provisional p.E335G 0.997 120 0% 53 24.5% - - probably_damaging(0.992) deleterious(0.03) deleterious(0.812) NULL EPHA6 285220 genome.wustl.edu 37 3 97167565 97167565 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080448.2 +1 provisional p.G629* 1.000 111 0% 31 29% - - - - - superfamily_Fibronectin type III EPHA6 285220 genome.wustl.edu 37 3 97198165 97198165 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080448.2 +1 provisional p.M677I 1.000 208 0% 204 37.7% - - benign(0.025) tolerated(0.24) neutral(0.038) NULL EPHA6 285220 genome.wustl.edu 37 3 97251282 97251282 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080448.2 +1 provisional p.G761C 1.000 189 0% 44 36.4% - - probably_damaging(0.996) deleterious(0.04) deleterious(0.810) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) MINA 84864 genome.wustl.edu 37 3 97686036 97686036 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001042533.1 -1 validated p.T134 0.977 210 0% 256 37.5% - - - - - HMMPfam_Cupin_4,superfamily_Clavaminate synthase-like GABRR3 200959 genome.wustl.edu 37 3 97744433 97744433 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001105580.1 -1 provisional p.F72 1.000 235 0% 67 29.9% - - - - - HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like OR5K4 403278 genome.wustl.edu 37 3 98073241 98073241 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005517.1 +1 provisional p.L182I 0.279 122 0% 38 39.5% - - benign(0.15) tolerated(0.5) neutral(0.023) HMMPfam_7tm_1,superfamily_SSF81321 CPOX 1371 genome.wustl.edu 37 3 98307671 98307671 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000097.5 -1 reviewed p.G280E 1.000 94 0% 120 30.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Coprogen_oxidas,superfamily_Coprogen_oxidas ST3GAL6 10402 genome.wustl.edu 37 3 98503812 98503812 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006100.2 +1 provisional p.V120A 1.000 236 0% 69 37.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_transf_29 COL8A1 1295 genome.wustl.edu 37 3 99509819 99509819 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001850.3 +1 reviewed p.R98I 1.000 85 0% 42 28.6% - - unknown(0) tolerated(0.09) - NULL COL8A1 1295 genome.wustl.edu 37 3 99513073 99513073 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000429802 +1 known p.E111* 0.998 180 0% 103 32% - - - - - NULL COL8A1 1295 genome.wustl.edu 37 3 99514219 99514219 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001850.3 +1 reviewed p.G492C 1.000 18 0% 11 54.5% - - unknown(0) deleterious(0) - HMMPfam_Collagen COL8A1 1295 genome.wustl.edu 37 3 99514432 99514432 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001850.3 +1 reviewed p.G563C 1.000 34 0% 36 36.1% - - unknown(0) deleterious(0.03) - HMMPfam_Collagen FILIP1L 11259 genome.wustl.edu 37 3 99568802 99568802 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182909.2 -1 validated p.A573V 1.000 126 0% 42 33.3% - - benign(0.344) tolerated(0.29) neutral(0.138) NULL TFG 10342 genome.wustl.edu 37 3 100463734 100463734 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001007565.1 +1 validated p.A260V 1.000 120 0% 59 47.5% - - benign(0.355) tolerated(0.13) neutral(0.365) NULL ABI3BP 25890 genome.wustl.edu 37 3 100513832 100513832 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015429.3 -1 validated p.R608Q 0.610 158 0% 41 48.8% - - probably_damaging(0.999) tolerated(0.33) deleterious(0.514) NULL ABI3BP 25890 genome.wustl.edu 37 3 100569566 100569566 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015429.3 -1 validated p.R413H 0.921 186 0% 60 35% - - benign(0.003) tolerated(0.05) neutral(0.345) NULL SENP7 57337 genome.wustl.edu 37 3 101062618 101062618 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020654.3 -1 validated p.S673Y 1.000 126 0% 38 34.2% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL RG9MTD1 54931 genome.wustl.edu 37 3 101284161 101284161 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017819.2 +1 provisional p.F179C 0.102 51 0% 49 38.8% - - possibly_damaging(0.835) deleterious(0) deleterious(0.763) NULL ALCAM 214 genome.wustl.edu 37 3 105253608 105253608 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001627.2 +1 validated p.P217T 1.000 136 0% 46 37% - - possibly_damaging(0.688) tolerated(0.29) neutral(0.275) HMMPfam_C2-set_2,superfamily_Immunoglobulin ALCAM 214 genome.wustl.edu 37 3 105268983 105268983 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001627.2 +1 validated p.P463S 1.000 79 1.3% 24 41.7% - - benign(0.002) tolerated(0.69) neutral(0.002) HMMSmart_SM00408,superfamily_Immunoglobulin BBX 56987 genome.wustl.edu 37 3 107429365 107429365 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001142568.1 +1 validated p.R20* 1.000 173 0% 52 38.5% - - - - - NULL BBX 56987 genome.wustl.edu 37 3 107520024 107520024 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000416476 +1 known p.P542L 0.000 71 0% 40 22.5% - - unknown(0) - - NULL MYH15 22989 genome.wustl.edu 37 3 108147656 108147656 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014981.1 -1 validated p.A1149T 0.171 137 0% 99 44.4% - - benign(0.04) tolerated(0.09) neutral(0.299) HMMPfam_Myosin_tail_1 MORC1 27136 genome.wustl.edu 37 3 108754210 108754210 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014429.3 -1 reviewed p.G479V 0.911 214 0% 45 15.6% - - benign(0.139) tolerated(0.07) neutral(0.331) NULL TMPRSS7 344805 genome.wustl.edu 37 3 111764702 111764702 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001042575.2 +1 validated p.K88N 1.000 229 0% 68 39.7% - - probably_damaging(0.996) tolerated(0.31) deleterious(0.489) HMMPfam_SEA,superfamily_SEA domain GCET2 257144 genome.wustl.edu 37 3 111851957 111851957 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152785.3 -1 reviewed p.S4Y 0.078 250 0% 89 44.9% - - possibly_damaging(0.509) tolerated(0.16) neutral(0.230) NULL SLC9A10 285335 genome.wustl.edu 37 3 111887846 111887846 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_183061.1 -1 validated p.T1039A 0.002 153 0% 71 35.2% - - possibly_damaging(0.496) tolerated(0.84) neutral(0.166) NULL SLC9A10 285335 genome.wustl.edu 37 3 111898393 111898393 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_183061.1 -1 validated p.C968 1.000 178 0% 109 35.8% - - - - - HMMPfam_cNMP_binding,superfamily_cAMP-binding domain-like CCDC80 151887 genome.wustl.edu 37 3 112328959 112328959 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000479368 -1 known p.S42I 0.000 71 0% 35 20% - - unknown(0) deleterious(0.03) - NULL LOC100288391 100288391 genome.wustl.edu 37 3 112969571 112969571 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002342393.1 -1 model p.P223S 0.929 105 1% 96 38.5% - - - - - NULL BOC 91653 genome.wustl.edu 37 3 113002319 113002319 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033254.2 +1 validated p.P831 0.001 76 0% 103 41.7% - - - - - NULL SPICE1 152185 genome.wustl.edu 37 3 113207803 113207803 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000467618 -1 known p.R12Q 0.000 151 0% 75 32% - - - - - NULL KIAA2018 205717 genome.wustl.edu 37 3 113374770 113374770 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001009899.2 -1 validated p.S1920F 1.000 167 0% 40 45% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL GRAMD1C 54762 genome.wustl.edu 37 3 113595078 113595078 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017577.4 +1 validated p.A144T 1.000 147 0% 66 39.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL GRAMD1C 54762 genome.wustl.edu 37 3 113655209 113655209 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017577.4 +1 validated p.R518Q 0.995 128 0% 59 39% - - probably_damaging(1) tolerated(0.07) deleterious(0.819) NULL GAP43 2596 genome.wustl.edu 37 3 115395246 115395246 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001130064.1 +1 reviewed p.E175D 1.000 43 0% 24 41.7% - - probably_damaging(0.985) deleterious(0) deleterious(0.877) HMMPfam_Neuromodulin IGSF11 152404 genome.wustl.edu 37 3 118649029 118649029 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001015887.1 -1 validated p.S49I 0.801 135 0% 35 22.9% - - probably_damaging(0.992) deleterious(0.01) deleterious(0.853) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin IGSF11 152404 genome.wustl.edu 37 3 118824024 118824024 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152538.2 -1 validated p.L6I 0.019 248 0% 124 29% - - benign(0) - - NULL B4GALT4 8702 genome.wustl.edu 37 3 118943071 118943071 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003778.3 -1 reviewed p.R170* 1.000 75 0% 43 34.9% - - - - - HMMPfam_Galactosyl_T_2,superfamily_Nucleotide-diphospho-sugar transferases B4GALT4 8702 genome.wustl.edu 37 3 118945760 118945760 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003778.3 -1 reviewed p.V128I 1.000 93 0% 47 51.1% - - benign(0.001) tolerated(1) - HMMPfam_Galactosyl_T_2,superfamily_Nucleotide-diphospho-sugar transferases ARHGAP31 57514 genome.wustl.edu 37 3 119134684 119134684 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020754.2 +1 reviewed p.A1303V 0.989 77 0% 29 37.9% - - - - - NULL GPR156 165829 genome.wustl.edu 37 3 119886361 119886361 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153002.2 -1 validated p.R655* 0.001 28 0% 27 51.9% - - - - - NULL HGD 3081 genome.wustl.edu 37 3 120393782 120393782 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000187.3 -1 reviewed p.A48T 0.999 185 0% 33 27.3% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_HgmA,superfamily_RmlC-like cupins STXBP5L 9515 genome.wustl.edu 37 3 121137909 121137909 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014980.2 +1 validated p.L1176 1.000 249 0% 54 33.3% - - - - - NULL POLQ 10721 genome.wustl.edu 37 3 121207509 121207509 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_199420.3 -1 validated p.L1423F 0.000 70 0% 31 45.2% - - benign(0.267) tolerated(0.17) neutral(0.087) NULL ARGFX 503582 genome.wustl.edu 37 3 121305118 121305118 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001012659.1 +1 validated p.D207Y 0.002 209 0% 104 25% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL FBXO40 51725 genome.wustl.edu 37 3 121342181 121342181 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016298.3 +1 validated p.V635 1.000 26 3.8% 21 42.9% - - - - - superfamily_F-box domain HCLS1 3059 genome.wustl.edu 37 3 121356006 121356006 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000412597 -1 known p.T166M 0.998 174 0% 119 10.9% - - unknown(0) - - NULL GOLGB1 2804 genome.wustl.edu 37 3 121383403 121383403 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004487.3 -1 validated p.R3235Q 1.000 118 0.8% 72 41.7% - - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL CASR 846 genome.wustl.edu 37 3 122003015 122003015 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000388.3 +1 reviewed p.I738 1.000 25 0% 47 44.7% - - - - - HMMPfam_7tm_3 KPNA1 3836 genome.wustl.edu 37 3 122182861 122182861 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002264.3 -1 reviewed p.E89* 1.000 156 0% 76 35.5% - - - - - HMMPfam_IBB,superfamily_ARM repeat PARP9 83666 genome.wustl.edu 37 3 122271295 122271295 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031458.2 -1 validated p.V394 0.015 65 0% 36 22.2% - - - - - HMMPfam_Macro,HMMSmart_SM00506,superfamily_Macro domain-like PARP15 165631 genome.wustl.edu 37 3 122345757 122345757 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001113523.1 +1 validated p.S439P 0.003 175 0% 54 37% - - probably_damaging(0.989) tolerated(0.06) deleterious(0.762) superfamily_Macro domain-like PARP14 54625 genome.wustl.edu 37 3 122414308 122414308 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017554.2 +1 validated p.H212Y 0.000 59 0% 25 20% - - possibly_damaging(0.914) tolerated(0.98) neutral(0.366) NULL PARP14 54625 genome.wustl.edu 37 3 122419178 122419178 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017554.2 +1 validated p.L593F 0.000 43 0% 21 47.6% - - possibly_damaging(0.507) tolerated(0.05) deleterious(0.515) NULL PARP14 54625 genome.wustl.edu 37 3 122420150 122420150 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017554.2 +1 validated p.A917S 1.000 115 0% 38 21.1% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Macro,HMMSmart_SM00506,superfamily_Macro domain-like UMPS 7372 genome.wustl.edu 37 3 124458954 124458954 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000373.3 +1 reviewed p.E356* 1.000 94 0% 72 41.7% - - - - - HMMPfam_OMPdecase,superfamily_Ribulose-phoshate binding barrel MUC13 56667 genome.wustl.edu 37 3 124642454 124642454 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033049.2 -1 validated p.S185* 0.132 150 0% 71 35.2% - - - - - HMMSmart_SM00181,superfamily_EGF/Laminin HEG1 57493 genome.wustl.edu 37 3 124729356 124729356 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020733.1 -1 validated p.C1000 0.058 64 0% 55 34.5% - - - - - HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,superfamily_EGF/Laminin SLC41A3 54946 genome.wustl.edu 37 3 125725307 125725307 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001008485.1 -1 validated p.I489 0.000 40 0% 66 31.8% - - - - - NULL SLC41A3 54946 genome.wustl.edu 37 3 125775344 125775344 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001008487.1 -1 validated p.R18* 1.000 45 0% 50 18% - - - - - NULL ALDH1L1 10840 genome.wustl.edu 37 3 125824745 125824745 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012190.2 -1 reviewed p.R826Q 1.000 74 0% 98 33.7% - - possibly_damaging(0.909) deleterious(0.02) deleterious(0.745) HMMPfam_Aldedh,superfamily_Aldehyde_DH/Histidinol_DH ALDH1L1 10840 genome.wustl.edu 37 3 125828922 125828922 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012190.2 -1 reviewed p.N738D 1.000 92 0% 131 34.4% - - benign(0) tolerated(1) - HMMPfam_Aldedh,superfamily_Aldehyde_DH/Histidinol_DH ALDH1L1 10840 genome.wustl.edu 37 3 125828940 125828940 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012190.2 -1 reviewed p.R732W 0.023 96 0% 134 12.7% - - possibly_damaging(0.943) deleterious(0) deleterious(0.832) HMMPfam_Aldedh,superfamily_Aldehyde_DH/Histidinol_DH KLF15 28999 genome.wustl.edu 37 3 126071724 126071724 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014079.3 -1 validated p.S14 0.095 7 0.000 34 0.294 - - - - - NULL ZXDC 79364 genome.wustl.edu 37 3 126185076 126185076 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025112.4 -1 validated p.V455F 0.996 157 0% 176 36.9% - - possibly_damaging(0.558) tolerated(0.07) deleterious(0.510) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZXDC 79364 genome.wustl.edu 37 3 126185112 126185112 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025112.4 -1 validated p.V443M 0.997 155 0% 179 14.5% - - benign(0.055) tolerated(0.1) neutral(0.290) superfamily_C2H2 and C2HC zinc fingers PLXNA1 5361 genome.wustl.edu 37 3 126708318 126708318 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032242.3 +1 validated p.S271 0.821 39 2.6% 54 29.6% - - - - - HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain PLXNA1 5361 genome.wustl.edu 37 3 126730881 126730881 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032242.3 +1 validated p.N708 1.000 25 0% 70 12.9% - - - - - NULL PLXNA1 5361 genome.wustl.edu 37 3 126749233 126749233 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032242.3 +1 validated p.R1714C 1.000 44 0% 81 39.5% - - possibly_damaging(0.811) tolerated(0.09) deleterious(0.602) superfamily_GTPase activation domain GAP,HMMPfam_Plexin_cytopl PLXNA1 5361 genome.wustl.edu 37 3 126751304 126751304 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032242.3 +1 validated p.T1746M 1.000 99 0% 193 35.2% - - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) superfamily_GTPase activation domain GAP,HMMPfam_Plexin_cytopl MCM2 4171 genome.wustl.edu 37 3 127327324 127327324 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004526.2 +1 reviewed p.D401Y 1.000 32 0% 41 39% - - possibly_damaging(0.659) deleterious(0) deleterious(0.677) HMMSmart_MCM,superfamily_Nucleic_acid_OB PODXL2 50512 genome.wustl.edu 37 3 127379729 127379729 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015720.2 +1 validated p.S286 0.000 19 0% 23 52.2% - - - - - NULL ABTB1 80325 genome.wustl.edu 37 3 127395167 127395167 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_172027.2 +1 reviewed p.P125S 0.089 120 0% 173 13.9% - - benign(0) tolerated(0.78) neutral(0.001) HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB SEC61A1 29927 genome.wustl.edu 37 3 127785825 127785825 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013336.3 +1 reviewed p.S269L 1.000 256 0% 280 33.9% - - benign(0.413) tolerated(0.06) neutral(0.456) HMMPfam_SecY,superfamily_Preprotein translocase SecY subunit EEFSEC 60678 genome.wustl.edu 37 3 127983506 127983506 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021937.3 +1 validated p.P223L 0.989 99 0% 84 27.4% - - possibly_damaging(0.77) deleterious(0.02) deleterious(0.669) superfamily_Translation proteins,superfamily_P-loop containing nucleoside triphosphate hydrolases GP9 2815 genome.wustl.edu 37 3 128780816 128780816 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000174.3 +1 reviewed p.Q78H 0.003 13 0% 23 43.5% - - benign(0.053) deleterious(0.02) neutral(0.387) superfamily_SSF52058 COPG1 22820 genome.wustl.edu 37 3 128991243 128991243 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016128.3 +1 validated p.E715* 1.000 43 0% 54 31.5% - - - - - superfamily_Clathrin adaptor appendage domain,HMMPfam_Gamma-COP MBD4 8930 genome.wustl.edu 37 3 129155355 129155355 + Missense_Mutation SNP G G A rs149311534 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003925.1 -1 reviewed p.R378C 0.001 170 0% 172 27.3% - - benign(0) tolerated(0.12) neutral(0.261) NULL MBD4 8930 genome.wustl.edu 37 3 129156119 129156119 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003925.1 -1 reviewed p.S123* 0.985 41 0% 67 32.8% - - - - - HMMPfam_MBD,HMMSmart_SM00391,superfamily_DNA-binding domain RHO 6010 genome.wustl.edu 37 3 129247841 129247841 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000539.3 +1 reviewed p.G89C 0.420 121 0% 192 39.6% - - benign(0.003) tolerated(0.08) neutral(0.300) HMMPfam_7tm_1,superfamily_SSF81321 RHO 6010 genome.wustl.edu 37 3 129252556 129252556 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000539.3 +1 reviewed p.A348T 1.000 24 0% 52 30.8% - - benign(0.38) deleterious(0) deleterious(0.566) superfamily_SSF81321 PLXND1 23129 genome.wustl.edu 37 3 129280492 129280492 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015103.2 -1 validated p.R1664* 1.000 35 0% 57 35.1% - - - - - superfamily_GTPase activation domain GAP,HMMPfam_Plexin_cytopl PLXND1 23129 genome.wustl.edu 37 3 129308214 129308214 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015103.2 -1 validated p.V490I 0.037 27 0% 41 46.3% - - benign(0.069) tolerated(0.08) neutral(0.304) HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain COL6A5 256076 genome.wustl.edu 37 3 130104021 130104021 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153264.5 +1 validated p.V559F 0.964 107 0% 29 24.1% - - probably_damaging(0.987) - - HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300 COL6A5 256076 genome.wustl.edu 37 3 130107894 130107894 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153264.5 +1 validated p.S778I 0.000 145 0% 48 25% - - benign(0.056) - - HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300 PIK3R4 30849 genome.wustl.edu 37 3 130464056 130464056 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014602.2 -1 validated p.N3D 1.000 14 0% 22 22.7% - - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) superfamily_Kinase_like ASTE1 28990 genome.wustl.edu 37 3 130733113 130733113 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014065.2 -1 validated p.A610T 0.375 79 0% 24 20.8% - - benign(0.168) deleterious(0) neutral(0.460) NULL ASTE1 28990 genome.wustl.edu 37 3 130743962 130743962 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014065.2 -1 validated p.F63L 1.000 97 0% 105 35.2% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_XPG_N,superfamily_SSF88723 DNAJC13 23317 genome.wustl.edu 37 3 132244491 132244491 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015268.3 +1 validated p.C2033Y 1.000 150 0% 56 30.4% - - benign(0.001) tolerated(1) - superfamily_ARM repeat ACAD11 84129 genome.wustl.edu 37 3 132361547 132361547 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032169.4 -1 validated p.E117* 1.000 123 0% 57 47.4% - - - - - HMMPfam_APH,superfamily_Protein kinase-like (PK-like) NPHP3 27031 genome.wustl.edu 37 3 132403547 132403547 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153240.3 -1 reviewed p.L1141 1.000 94 0% 36 33.3% - - - - - HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like NPHP3 27031 genome.wustl.edu 37 3 132416156 132416156 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153240.3 -1 reviewed p.S679Y 0.984 189 0% 81 42% - - possibly_damaging(0.908) tolerated(0.08) deleterious(0.661) superfamily_P-loop containing nucleoside triphosphate hydrolases TMEM108 66000 genome.wustl.edu 37 3 133099644 133099644 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001136469.1 +1 validated p.A363 0.517 34 0% 45 31.1% - - - - - NULL TOPBP1 11073 genome.wustl.edu 37 3 133337125 133337125 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007027.3 -1 reviewed p.V1175A 0.000 117 0% 31 35.5% - - benign(0.004) tolerated(1) - NULL TF 7018 genome.wustl.edu 37 3 133494306 133494306 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001063.3 +1 reviewed p.L573M 0.043 94 0% 83 27.7% - - probably_damaging(0.977) deleterious(0) deleterious(0.863) HMMPfam_Transferrin,HMMSmart_SM00094,superfamily_Periplasmic binding protein-like II SLCO2A1 6578 genome.wustl.edu 37 3 133654634 133654634 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005630.2 -1 validated p.D600N 0.031 40 0% 60 35% - - unknown(0) tolerated(0.25) - HMMPfam_OATP,superfamily_MFS_gen_substrate_transporter AMOTL2 51421 genome.wustl.edu 37 3 134090058 134090058 + Missense_Mutation SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016201.2 -1 reviewed p.E73V 1.000 20 0% 41 39% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL EPHB1 2047 genome.wustl.edu 37 3 134851755 134851755 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004441.4 +1 reviewed p.T387 0.001 47 0% 46 34.8% - - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III EPHB1 2047 genome.wustl.edu 37 3 134920362 134920362 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004441.4 +1 reviewed p.R726M 1.000 150 0% 68 33.8% - - probably_damaging(0.971) deleterious(0) deleterious(0.857) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) PPP2R3A 5523 genome.wustl.edu 37 3 135822143 135822143 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002718.3 +1 reviewed p.H1049 1.000 160 0% 55 41.8% - - - - - superfamily_EF-hand PPP2R3A 5523 genome.wustl.edu 37 3 135822208 135822208 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002718.3 +1 reviewed p.A1071V 1.000 126 0% 37 32.4% - - probably_damaging(0.973) tolerated(0.12) deleterious(0.675) NULL PCCB 5096 genome.wustl.edu 37 3 135975404 135975404 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000532.4 +1 reviewed p.G104E 1.000 335 0% 314 34.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Carboxyl_trans,superfamily_SSF52096 PCCB 5096 genome.wustl.edu 37 3 136045681 136045681 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000532.4 +1 reviewed p.R376H 1.000 359 0% 168 38.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Carboxyl_trans,superfamily_SSF52096 STAG1 10274 genome.wustl.edu 37 3 136076617 136076617 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005862.2 -1 reviewed p.L1004I 1.000 193 0% 63 33.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL IL20RB 53833 genome.wustl.edu 37 3 136701098 136701098 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144717.2 +1 validated p.T104 0.089 49 0% 50 40% - - - - - HMMPfam_fn3,superfamily_Fibronectin type III DBR1 51163 genome.wustl.edu 37 3 137881376 137881376 + Missense_Mutation SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016216.2 -1 validated p.K330N 0.742 126 0% 108 38% - - benign(0.067) tolerated(0.39) neutral(0.021) HMMPfam_DBR1 DBR1 51163 genome.wustl.edu 37 3 137881399 137881399 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016216.2 -1 validated p.G323S 1.000 123 0% 91 38.5% - - benign(0) tolerated(0.11) neutral(0.272) HMMPfam_DBR1 DBR1 51163 genome.wustl.edu 37 3 137886042 137886042 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016216.2 -1 validated p.E199K 1.000 116 0% 71 35.2% - - possibly_damaging(0.838) deleterious(0.02) deleterious(0.703) HMMPfam_Metallophos,superfamily_Metallo-dependent phosphatases ARMC8 25852 genome.wustl.edu 37 3 138003292 138003292 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015396.3 +1 validated p.N568S 1.000 119 0% 62 37.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_ARM,superfamily_ARM-type_fold PRR23C 389152 genome.wustl.edu 37 3 138762919 138762919 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001134657.1 -1 validated p.A182T 0.000 49 0% 97 35.1% - - benign(0.067) tolerated(0.64) neutral(0.007) HMMPfam_DUF2476 CLSTN2 64084 genome.wustl.edu 37 3 140284983 140284983 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022131.2 +1 validated p.S919F 0.999 166 0% 92 44.6% - - possibly_damaging(0.574) deleterious(0.02) deleterious(0.580) NULL ACPL2 92370 genome.wustl.edu 37 3 140997297 140997297 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001037172.1 +1 validated p.L65I 0.268 122 0% 109 45.9% - - benign(0.032) tolerated(0.39) neutral(0.018) NULL ACPL2 92370 genome.wustl.edu 37 3 140997319 140997319 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001037172.1 +1 validated p.S72I 0.004 100 0% 104 39.4% - - possibly_damaging(0.685) tolerated(0.05) deleterious(0.590) NULL ZBTB38 253461 genome.wustl.edu 37 3 141161237 141161237 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080412.2 +1 validated p.V3I 1.000 66 0% 29 34.5% - - possibly_damaging(0.942) tolerated(0.06) deleterious(0.710) NULL RASA2 5922 genome.wustl.edu 37 3 141327334 141327334 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006506.2 +1 reviewed p.F674L 1.000 114 0% 27 33.3% - - possibly_damaging(0.942) deleterious(0.01) deleterious(0.792) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 GRK7 131890 genome.wustl.edu 37 3 141535742 141535742 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_139209.2 +1 reviewed p.F504L 1.000 122 0% 56 37.5% - - benign(0.213) tolerated(0.08) neutral(0.321) HMMSmart_S_TK_X ATR 545 genome.wustl.edu 37 3 142226870 142226870 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001184.3 -1 reviewed p.S1645F 1.000 93 0% 45 37.8% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_ARM repeat ATR 545 genome.wustl.edu 37 3 142278281 142278281 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001184.3 -1 reviewed p.R515H 0.937 133 0% 69 36.2% - - benign(0) tolerated(0.6) neutral(0.004) superfamily_ARM repeat PCOLCE2 26577 genome.wustl.edu 37 3 142561772 142561772 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013363.3 -1 validated p.K189N 1.000 55 0% 31 45.2% - - possibly_damaging(0.81) tolerated(0.05) deleterious(0.650) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain PLOD2 5352 genome.wustl.edu 37 3 145822114 145822114 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182943.2 -1 reviewed p.T211A 1.000 216 0% 150 36% - - benign(0.309) tolerated(0.28) neutral(0.128) NULL PLSCR2 57047 genome.wustl.edu 37 3 146159589 146159589 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020359.1 -1 provisional p.R222I 0.001 161 0% 59 37.3% - - possibly_damaging(0.721) deleterious(0.01) deleterious(0.667) HMMPfam_Scramblase PLSCR2 57047 genome.wustl.edu 37 3 146173189 146173189 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020359.1 -1 provisional p.R53M 0.674 124 0% 42 33.3% - - benign(0.018) tolerated(0.51) neutral(0.009) HMMPfam_Scramblase PLSCR1 5359 genome.wustl.edu 37 3 146251259 146251259 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021105.2 -1 validated p.Q31R 0.844 144 0% 71 31% - - unknown(0) tolerated(0.22) - NULL ZIC1 7545 genome.wustl.edu 37 3 147130393 147130393 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000488404 +1 known p.R46Q 0.983 76 0% 151 35.8% - - - - - superfamily_C2H2 and C2HC zinc fingers CPB1 1360 genome.wustl.edu 37 3 148558683 148558683 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001871.2 +1 reviewed p.V132A 0.996 147 0.7% 46 23.9% - - probably_damaging(0.989) deleterious(0.01) deleterious(0.845) HMMPfam_Peptidase_M14,HMMSmart_SM00631,superfamily_Zn-dependent exopeptidases GYG1 2992 genome.wustl.edu 37 3 148712025 148712025 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004130.3 +1 validated p.L35P 1.000 25 0% 40 32.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_transf_8,superfamily_Nucleotide-diphospho-sugar transferases HLTF 6596 genome.wustl.edu 37 3 148802669 148802669 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003071.3 -1 reviewed p.V10I 1.000 124 0% 156 12.2% - - possibly_damaging(0.797) tolerated(0.18) neutral(0.355) NULL HPS3 84343 genome.wustl.edu 37 3 148857971 148857971 + Missense_Mutation SNP C C T rs140810728 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032383.3 +1 reviewed p.S133L 0.084 162 0% 108 30.6% - - benign(0.053) tolerated(0.09) neutral(0.300) NULL HPS3 84343 genome.wustl.edu 37 3 148858265 148858265 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032383.3 +1 reviewed p.R231Q 0.000 161 0% 77 32.5% - - benign(0.14) tolerated(0.61) neutral(0.016) NULL HPS3 84343 genome.wustl.edu 37 3 148875298 148875298 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032383.3 +1 reviewed p.H557 1.000 98 0% 26 50% - - - - - NULL HPS3 84343 genome.wustl.edu 37 3 148881676 148881676 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032383.3 +1 reviewed p.V843 0.913 149 0.7% 41 34.1% - - - - - NULL CP 1356 genome.wustl.edu 37 3 148930303 148930303 + Missense_Mutation SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000096.3 -1 reviewed p.K110I 1.000 159 0% 62 27.4% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Cupredoxins,HMMPfam_Cu-oxidase_3 ANKUB1 389161 genome.wustl.edu 37 3 149485641 149485641 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001144960.1 -1 predicted p.K270Q 0.818 93 0% 27 48.1% - - benign(0.01) tolerated(0.16) neutral(0.060) superfamily_Ankyrin repeat TMEM183B 653659 genome.wustl.edu 37 3 149700178 149700178 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001079809.1 -1 validated p.P306 0.978 239 0% 341 37.5% - - - - - NULL FAM194A 131831 genome.wustl.edu 37 3 150396211 150396211 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152394.3 -1 validated p.R414 0.000 126 0% 39 38.5% - - - - - NULL MED12L 116931 genome.wustl.edu 37 3 150877683 150877683 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_053002.4 +1 reviewed p.R301H 1.000 74 0% 73 38.4% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL MED12L 116931 genome.wustl.edu 37 3 150877702 150877702 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_053002.4 +1 reviewed p.S307 0.881 74 0% 75 41.3% - - - - - NULL P2RY14 9934 genome.wustl.edu 37 3 150931217 150931217 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001081455.1 -1 reviewed p.F296L 1.000 122 0% 53 39.6% - - probably_damaging(1) tolerated(0.07) deleterious(0.819) superfamily_Family A G protein-coupled receptor-like P2RY14 9934 genome.wustl.edu 37 3 150932039 150932039 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001081455.1 -1 reviewed p.Q22 0.001 246 0% 47 36.2% - - - - - superfamily_Family A G protein-coupled receptor-like IGSF10 285313 genome.wustl.edu 37 3 151154632 151154632 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178822.4 -1 validated p.A2573T 0.004 57 0% 35 25.7% - - benign(0.187) tolerated(0.11) neutral(0.289) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin IGSF10 285313 genome.wustl.edu 37 3 151163911 151163911 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178822.4 -1 validated p.K1286N 0.000 568 0% 283 33.9% - - benign(0) tolerated(0.28) neutral(0.032) NULL AADAC 13 genome.wustl.edu 37 3 151538232 151538232 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001086.2 +1 reviewed p.V141 0.918 130 0% 49 30.6% - - - - - HMMPfam_Abhydrolase_3,superfamily_alpha/beta-Hydrolases GPR149 344758 genome.wustl.edu 37 3 154145382 154145382 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001038705.1 -1 provisional p.R366H 1.000 56 0% 75 29.3% - - benign(0.003) tolerated(0.42) neutral(0.014) NULL MME 4311 genome.wustl.edu 37 3 154889950 154889950 + Silent SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000902.3 +1 reviewed p.L675 0.998 169 0% 41 48.8% - - - - - "HMMPfam_Peptidase_M13,superfamily_Metalloproteases (""zincins"") catalytic domain" PLCH1 23007 genome.wustl.edu 37 3 155203157 155203157 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001130960.1 -1 validated p.E996* 0.989 94 1.1% 97 38.1% - - - - - NULL KCNAB1 7881 genome.wustl.edu 37 3 156175302 156175302 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_172160.2 +1 reviewed p.E140K 0.995 254 0% 64 29.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Aldo_ket_red,superfamily_NAD(P)-linked oxidoreductase KCNAB1 7881 genome.wustl.edu 37 3 156192571 156192571 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_172160.2 +1 reviewed p.V207A 1.000 135 0% 35 25.7% - - probably_damaging(0.979) deleterious(0.01) deleterious(0.828) HMMPfam_Aldo_ket_red,superfamily_NAD(P)-linked oxidoreductase KCNAB1 7881 genome.wustl.edu 37 3 156241617 156241617 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_172160.2 +1 reviewed p.C321Y 1.000 124 0% 55 34.5% - - benign(0.064) tolerated(0.8) neutral(0.005) HMMPfam_Aldo_ket_red,superfamily_NAD(P)-linked oxidoreductase TIPARP 25976 genome.wustl.edu 37 3 156395884 156395884 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015508.4 +1 reviewed p.R133Q 0.988 105 0% 108 11.1% - - benign(0) tolerated(1) - NULL ENSG00000197980 0 genome.wustl.edu 37 3 156547145 156547145 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000440145 +1 known p.A9 0.766 158 0% 168 47% - - - - - NULL LEKR1 389170 genome.wustl.edu 37 3 156745952 156745952 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001004316.2 +1 validated p.E173* 0.969 56 0% 21 38.1% - - - - - NULL VEPH1 79674 genome.wustl.edu 37 3 157082097 157082097 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024621.2 -1 validated p.F444L 1.000 156 0% 50 46% - - probably_damaging(0.954) deleterious(0) deleterious(0.842) NULL GFM1 85476 genome.wustl.edu 37 3 158364641 158364641 + Missense_Mutation SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024996.5 +1 reviewed p.N159K 0.864 242 0% 201 38.8% - - benign(0.27) tolerated(0.13) neutral(0.282) HMMPfam_GTP_EFTU,superfamily_SSF52540 MFSD1 64747 genome.wustl.edu 37 3 158539860 158539860 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022736.2 +1 validated p.C336 1.000 164 0% 51 31.4% - - - - - HMMPfam_MFS_1,superfamily_MFS general substrate transporter SCHIP1 29970 genome.wustl.edu 37 3 159583971 159583971 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014575.2 +1 provisional p.E260G 1.000 131 0% 35 28.6% - - probably_damaging(0.955) deleterious(0) deleterious(0.843) HMMPfam_SCHIP-1 IFT80 57560 genome.wustl.edu 37 3 160000393 160000393 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020800.1 -1 validated p.I463 0.985 77 0% 24 33.3% - - - - - superfamily_Cyt_cd1_haem_C SMC4 10051 genome.wustl.edu 37 3 160120572 160120572 + Missense_Mutation SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001002800.1 +1 validated p.S143T 0.999 131 0% 198 33.3% - - probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases SMC4 10051 genome.wustl.edu 37 3 160143906 160143906 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001002800.1 +1 validated p.E841 1.000 70 0% 34 26.5% - - - - - HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases OTOL1 131149 genome.wustl.edu 37 3 161221654 161221654 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080440.1 +1 provisional p.Y453C 1.000 50 0% 14 35.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_C1q,HMMSmart_C1Q,superfamily_TNF_like SI 6476 genome.wustl.edu 37 3 164700113 164700113 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001041.3 -1 reviewed p.G1778V 0.010 282 0% 45 33.3% - - benign(0.208) tolerated(0.15) neutral(0.261) NULL SI 6476 genome.wustl.edu 37 3 164792429 164792429 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001041.3 -1 reviewed p.A49T 0.000 110 0% 29 37.9% - - benign(0) tolerated(0.71) neutral(0.002) NULL SLITRK3 22865 genome.wustl.edu 37 3 164908564 164908564 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014926.2 -1 validated p.L19I 1.000 166 0.6% 109 51.4% - - benign(0.176) tolerated(0.06) neutral(0.339) NULL BCHE 590 genome.wustl.edu 37 3 165491209 165491209 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000055.2 -1 reviewed p.N590 0.655 270 0% 64 35.9% - - - - - HMMPfam_AChE_tetra WDR49 151790 genome.wustl.edu 37 3 167322202 167322202 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000453925 -1 known p.N50T 0.069 134 0% 44 43.2% - - possibly_damaging(0.647) tolerated(0.22) neutral(0.269) HMMSmart_SM00320 MECOM 2122 genome.wustl.edu 37 3 168849232 168849232 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000494292 -1 known p.A200T 1.000 74 0% 33 42.4% - - possibly_damaging(0.49) deleterious(0) deleterious(0.608) NULL PHC3 80012 genome.wustl.edu 37 3 169889148 169889148 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000497658 -1 known p.N131H 0.004 47 0% 30 50% - - possibly_damaging(0.634) tolerated(0.07) deleterious(0.541) NULL CLDN11 5010 genome.wustl.edu 37 3 170150374 170150374 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005602.5 +1 reviewed p.V152M 1.000 137 0% 76 43.4% - - benign(0) tolerated(0.44) neutral(0.013) HMMPfam_PMP22_Claudin RPL22L1 200916 genome.wustl.edu 37 3 170584225 170584225 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001099645.1 -1 validated p.E105K 1.000 98 0% 51 29.4% - - benign(0.088) tolerated(0.09) neutral(0.303) HMMPfam_Ribosomal_L22e TNIK 23043 genome.wustl.edu 37 3 170797362 170797362 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015028.2 -1 validated p.K1131N 1.000 326 0% 76 31.6% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_CNH,HMMSmart_SM00036 PLD1 5337 genome.wustl.edu 37 3 171405368 171405368 + Missense_Mutation SNP C C T rs187570378 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002662.3 -1 validated p.A516T 0.070 115 0% 36 33.3% - - benign(0) tolerated(0.63) neutral(0.004) superfamily_Phospholipase D/nuclease NLGN1 22871 genome.wustl.edu 37 3 173999000 173999000 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014932.2 +1 reviewed p.P793 1.000 210 0% 63 36.5% - - - - - NULL NAALADL2 254827 genome.wustl.edu 37 3 175293915 175293915 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_207015.2 +1 validated p.F580 1.000 124 0% 29 24.1% - - - - - superfamily_Zn-dependent exopeptidases TBL1XR1 79718 genome.wustl.edu 37 3 176744169 176744169 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024665.4 -1 reviewed p.D504Y 1.000 269 0% 112 41.1% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_WD40,superfamily_WD40_like TBL1XR1 79718 genome.wustl.edu 37 3 176756102 176756102 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024665.4 -1 reviewed p.T349M 1.000 257 0% 61 32.8% - - benign(0.43) tolerated(0.06) neutral(0.463) HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 PIK3CA 5290 genome.wustl.edu 37 3 178916728 178916728 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006218.2 +1 reviewed p.E39K 1.000 63 0% 40 32.5% - - probably_damaging(0.973) tolerated(0.07) deleterious(0.734) HMMPfam_PI3K_p85B,HMMSmart_PI3K_p85B PIK3CA 5290 genome.wustl.edu 37 3 178937461 178937461 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006218.2 +1 reviewed p.R617W 0.817 103 0% 22 45.5% - - probably_damaging(0.98) deleterious(0.01) deleterious(0.830) HMMPfam_PI3Ka,HMMSmart_PI3Ka,superfamily_ARM-type_fold MRPL47 57129 genome.wustl.edu 37 3 179320488 179320488 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020409.2 -1 reviewed p.E66* 1.000 125 0% 95 34.7% - - - - - HMMPfam_MRP-L47 USP13 8975 genome.wustl.edu 37 3 179483571 179483571 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003940.2 +1 validated p.N783T 0.998 182 0% 117 40.2% - - benign(0) tolerated(0.51) neutral(0.009) HMMPfam_UCH,superfamily_SSF54001 PEX5L 51555 genome.wustl.edu 37 3 179526066 179526066 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016559.1 -1 provisional p.R504 1.000 93 0% 83 41% - - - - - HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like CCDC39 339829 genome.wustl.edu 37 3 180320780 180320780 + Splice_Site SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000473854 -1 known e5-1 0.875 108 0% 151 39.1% - - benign(0.313) deleterious(0.01) deleterious(0.503) - CCDC39 339829 genome.wustl.edu 37 3 180361997 180361997 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_181426.1 -1 validated p.K526Q 0.994 325 0.3% 147 29.9% - - probably_damaging(0.983) tolerated(0.49) neutral(0.440) NULL ATP11B 23200 genome.wustl.edu 37 3 182584109 182584109 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000498086 +1 known p.R300K 1.000 77 0% 22 40.9% - - - - - HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N MCF2L2 23101 genome.wustl.edu 37 3 182923730 182923730 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015078.2 -1 validated p.E940* 1.000 138 0% 60 36.7% - - - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like MCF2L2 23101 genome.wustl.edu 37 3 182946121 182946121 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015078.2 -1 validated p.E693D 0.424 123 0% 64 28.1% - - benign(0.166) tolerated(1) neutral(0.015) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) MCF2L2 23101 genome.wustl.edu 37 3 183027574 183027574 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015078.2 -1 validated p.G348V 0.998 117 0% 84 33.3% - - benign(0) tolerated(0.06) neutral(0.323) HMMSmart_SM00150,superfamily_Spectrin repeat MCF2L2 23101 genome.wustl.edu 37 3 183097191 183097191 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015078.2 -1 validated p.G57R 1.000 80 0% 45 28.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00516 KLHL6 89857 genome.wustl.edu 37 3 183209811 183209811 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_130446.2 -1 validated p.C590 0.507 27 0% 43 46.5% - - - - - HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central KLHL6 89857 genome.wustl.edu 37 3 183210347 183210347 + Missense_Mutation SNP G G A rs183753852 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_130446.2 -1 validated p.A500V 0.864 189 0% 232 33.2% - - benign(0.139) deleterious(0.04) neutral(0.361) HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central KLHL6 89857 genome.wustl.edu 37 3 183273288 183273288 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_130446.2 -1 validated p.A52T 0.967 184 0% 123 39.8% - - benign(0) tolerated(0.86) neutral(0.001) superfamily_BTB/POZ_fold YEATS2 55689 genome.wustl.edu 37 3 183504074 183504074 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000432781 +1 known p.R152W 0.965 38 0% 42 35.7% - - - - - NULL PARL 55486 genome.wustl.edu 37 3 183560176 183560176 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018622.5 -1 reviewed p.A223T 1.000 98 0% 48 43.8% - - benign(0.338) tolerated(0.12) neutral(0.367) HMMPfam_Rhomboid ABCC5 10057 genome.wustl.edu 37 3 183682989 183682989 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005688.2 -1 reviewed p.S672N 1.000 59 0% 35 48.6% - - benign(0) tolerated(0.43) neutral(0.013) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCC5 10057 genome.wustl.edu 37 3 183689357 183689357 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005688.2 -1 reviewed p.I585 0.080 97 0% 72 11.1% - - - - - superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,superfamily_P-loop containing nucleoside triphosphate hydrolases EIF2B5 8893 genome.wustl.edu 37 3 183858264 183858264 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003907.2 +1 reviewed p.S301F 1.000 105 0% 99 35.4% - - possibly_damaging(0.753) deleterious(0.01) deleterious(0.682) superfamily_SSF53448 DVL3 1857 genome.wustl.edu 37 3 183887987 183887987 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004423.3 +1 reviewed p.S564 0.981 24 0% 92 37% - - - - - NULL AP2M1 1173 genome.wustl.edu 37 3 183898713 183898713 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004068.3 +1 reviewed p.R169H 1.000 146 0% 220 34.5% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Adap_comp_sub,superfamily_Second domain of Mu2 adaptin subunit (ap50) of ap2 adaptor,PatternScan_CLAT_ADAPTOR_M_1 ECE2 9718 genome.wustl.edu 37 3 183994707 183994707 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014693.3 +1 validated p.L170 0.086 38 0% 91 38.5% - - - - - NULL ECE2 9718 genome.wustl.edu 37 3 183996329 183996329 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014693.3 +1 validated p.R385I 1.000 38 0% 69 29% - - benign(0.119) deleterious(0.03) neutral(0.374) "HMMPfam_Peptidase_M13_N,superfamily_Metalloproteases (""zincins"") catalytic domain" EIF4G1 1981 genome.wustl.edu 37 3 184041244 184041244 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182917.3 +1 reviewed p.R713C 0.998 85 0% 158 36.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL FAM131A 131408 genome.wustl.edu 37 3 184059753 184059753 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144635.4 +1 validated p.K44 0.013 191 0% 323 36.8% - - - - - NULL POLR2H 5437 genome.wustl.edu 37 3 184085993 184085993 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006232.2 +1 reviewed p.L122F 1.000 89 0% 111 27.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RNA_pol_Rpb8,HMMSmart_SM00658,superfamily_Nucleic acid-binding proteins THPO 7066 genome.wustl.edu 37 3 184090467 184090467 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000460.2 -1 reviewed p.P299L 0.003 392 0% 441 33.8% - - possibly_damaging(0.65) deleterious(0.05) deleterious(0.574) NULL CHRD 8646 genome.wustl.edu 37 3 184100202 184100202 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003741.2 +1 reviewed p.P242H 1.000 113 0% 237 37.6% - - benign(0.225) tolerated(0.22) neutral(0.065) HMMPfam_CHRD,HMMSmart_SM00754 CHRD 8646 genome.wustl.edu 37 3 184100517 184100517 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003741.2 +1 reviewed p.H313Y 1.000 77 0% 130 33.8% - - probably_damaging(0.996) deleterious(0.02) deleterious(0.845) HMMPfam_CHRD,HMMSmart_SM00754 CHRD 8646 genome.wustl.edu 37 3 184105191 184105191 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003741.2 +1 reviewed p.R793W 1.000 25 0% 56 35.7% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_VWC,HMMSmart_SM00214 C3orf70 285382 genome.wustl.edu 37 3 184801260 184801260 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001025266.1 -1 predicted p.Q96H 1.000 59 0% 26 30.8% - - possibly_damaging(0.926) tolerated(0.12) deleterious(0.635) NULL IGF2BP2 10644 genome.wustl.edu 37 3 185367192 185367192 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006548.4 -1 reviewed p.T531N 1.000 68 0% 79 24.1% - - benign(0.075) tolerated(0.72) neutral(0.007) HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) IGF2BP2 10644 genome.wustl.edu 37 3 185369907 185369907 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006548.4 -1 reviewed p.T479I 1.000 74 0% 65 38.5% - - possibly_damaging(0.539) tolerated(0.11) neutral(0.454) HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) TRA2B 6434 genome.wustl.edu 37 3 185635510 185635510 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004593.2 -1 validated p.R287H 1.000 207 0% 92 26.1% - - unknown(0) deleterious(0) - NULL DGKG 1608 genome.wustl.edu 37 3 185985521 185985521 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001346.2 -1 reviewed p.L388I 0.999 68 0% 77 40.3% - - probably_damaging(0.999) tolerated(0.12) deleterious(0.751) superfamily_Cysteine-rich domain KNG1 3827 genome.wustl.edu 37 3 186435438 186435438 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001102416.2 +1 reviewed p.A36D 1.000 96 0% 175 42.3% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Cystatin,HMMSmart_SM00043,superfamily_Cystatin/monellin MASP1 5648 genome.wustl.edu 37 3 186944288 186944288 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001879.5 -1 reviewed p.A488T 0.635 154 0% 108 41.7% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases,PatternScan_TRYPSIN_HIS BCL6 604 genome.wustl.edu 37 3 187443345 187443345 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001130845.1 -1 reviewed p.R594Q 1.000 147 0.7% 229 38.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers BCL6 604 genome.wustl.edu 37 3 187446173 187446173 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001130845.1 -1 reviewed p.Q505 1.000 50 0% 67 29.9% - - - - - NULL TPRG1 285386 genome.wustl.edu 37 3 189038563 189038563 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198485.3 +1 validated p.R261H 1.000 116 0% 23 26.1% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL TP63 8626 genome.wustl.edu 37 3 189455532 189455532 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003722.4 +1 reviewed p.F22 0.906 100 0% 35 34.3% - - - - - NULL TP63 8626 genome.wustl.edu 37 3 189455576 189455576 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003722.4 +1 reviewed p.R37Q 1.000 120 0% 36 36.1% - - possibly_damaging(0.855) deleterious(0.02) deleterious(0.713) NULL TP63 8626 genome.wustl.edu 37 3 189526189 189526189 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003722.4 +1 reviewed p.Q151 1.000 170 0% 165 36.4% - - - - - NULL LEPREL1 55214 genome.wustl.edu 37 3 189702340 189702340 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018192.3 -1 validated p.R410W 0.858 236 0% 88 34.1% - - probably_damaging(0.992) deleterious(0.01) deleterious(0.853) NULL CCDC50 152137 genome.wustl.edu 37 3 191047493 191047493 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178335.2 +1 reviewed p.K10 1.000 14 0% 26 53.8% - - - - - NULL CCDC50 152137 genome.wustl.edu 37 3 191075835 191075835 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178335.2 +1 reviewed p.H54R 1.000 79 0% 23 39.1% - - benign(0.109) tolerated(0.63) neutral(0.012) NULL HRASLS 57110 genome.wustl.edu 37 3 192973503 192973503 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020386.3 +1 validated p.E22K 1.000 161 0% 40 50% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL GP5 2814 genome.wustl.edu 37 3 194117962 194117962 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004488.2 -1 validated p.G350 0.007 4 0.000 8 0.500 - - - - - HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058 ATP13A3 79572 genome.wustl.edu 37 3 194126757 194126757 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024524.3 -1 validated p.A1191V 1.000 319 0% 203 32% - - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL ATP13A3 79572 genome.wustl.edu 37 3 194134537 194134537 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024524.3 -1 validated p.T1145N 0.157 122 0% 56 41.1% - - benign(0) tolerated(0.3) neutral(0.029) superfamily_Calcium ATPase transmembrane domain M ATP13A3 79572 genome.wustl.edu 37 3 194162050 194162050 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024524.3 -1 validated p.A567D 1.000 129 0% 49 38.8% - - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_Calcium ATPase transmembrane domain M APOD 347 genome.wustl.edu 37 3 195300790 195300790 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001647.3 -1 reviewed p.G59E 1.000 185 0% 120 47.5% - - possibly_damaging(0.925) deleterious(0) deleterious(0.818) superfamily_Lipocalins,HMMPfam_Lipocalin_2 MUC20 200958 genome.wustl.edu 37 3 195451792 195451792 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152673.2 +1 reviewed p.I106 0.000 81 0% 87 27.6% - - - - - NULL MUC20 200958 genome.wustl.edu 37 3 195453324 195453324 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152673.2 +1 reviewed p.S446N 0.003 69 0% 80 37.5% - - possibly_damaging(0.903) deleterious(0.03) deleterious(0.722) NULL MUC4 4585 genome.wustl.edu 37 3 195489789 195489789 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018406.5 -1 reviewed p.A4633S 0.040 18 0% 39 25.6% - - possibly_damaging(0.507) - - HMMPfam_VWD,HMMSmart_SM00216 MUC4 4585 genome.wustl.edu 37 3 195495926 195495926 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018406.5 -1 reviewed p.R4371H 0.000 39 0% 81 35.8% - - possibly_damaging(0.733) tolerated(0.23) neutral(0.309) HMMPfam_NIDO,HMMSmart_SM00539 MUC4 4585 genome.wustl.edu 37 3 195511050 195511050 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018406.5 -1 reviewed p.G2467 0.365 1196 0% 1089 10.4% - - - - - NULL MUC4 4585 genome.wustl.edu 37 3 195512820 195512820 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018406.5 -1 reviewed p.D1877 0.009 1529 0.1% 1361 13.4% - - - - - NULL SDHAP1 255812 genome.wustl.edu 37 3 195702575 195702575 + Splice_Site SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000427841 -1 known NULL 1.000 45 0% 58 12.1% - - - - - - WDR53 348793 genome.wustl.edu 37 3 196288025 196288025 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182627.1 -1 provisional p.L108M 1.000 209 0% 165 10.9% - - possibly_damaging(0.814) tolerated(0.19) neutral(0.357) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 MFI2 4241 genome.wustl.edu 37 3 196735782 196735782 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005929.4 -1 reviewed p.Y527C 0.992 123 0% 201 12.4% - - probably_damaging(0.999) tolerated(0.05) deleterious(0.836) HMMPfam_Transferrin,HMMSmart_SM00094,superfamily_Periplasmic binding protein-like II MFI2 4241 genome.wustl.edu 37 3 196744033 196744033 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005929.4 -1 reviewed p.V281M 0.999 12 0% 25 40% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Transferrin,HMMSmart_SM00094,PatternScan_TRANSFERRIN_3,superfamily_Periplasmic binding protein-like II MFI2 4241 genome.wustl.edu 37 3 196749912 196749912 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005929.4 -1 reviewed p.R187H 0.997 26 0% 73 34.2% - - probably_damaging(0.968) deleterious(0.01) deleterious(0.816) HMMPfam_Transferrin,HMMSmart_SM00094,superfamily_Periplasmic binding protein-like II DLG1 1739 genome.wustl.edu 37 3 196888600 196888600 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004087.2 -1 validated p.A165S 1.000 134 0% 82 29.3% - - benign(0.059) tolerated(0.07) neutral(0.323) HMMPfam_MAGUK_N_PEST BDH1 622 genome.wustl.edu 37 3 197238981 197238981 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004051.4 -1 reviewed p.G273C 1.000 111 0% 166 38.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_NAD(P)-bd KIAA0226 9711 genome.wustl.edu 37 3 197408018 197408018 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000413360 -1 known p.A766T 1.000 62 0% 68 39.7% - - - - - NULL KIAA0226 9711 genome.wustl.edu 37 3 197408067 197408067 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001145642.2 -1 validated p.P743H 1.000 69 0% 70 40% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL FYTTD1 84248 genome.wustl.edu 37 3 197500335 197500335 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032288.6 +1 validated p.R187C 1.000 122 0% 118 39% - - possibly_damaging(0.923) deleterious(0) deleterious(0.817) HMMPfam_FYTT LMLN 89782 genome.wustl.edu 37 3 197687231 197687231 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001136049.2 +1 reviewed p.L47F 0.171 17 0% 36 47.2% - - benign(0.189) deleterious(0) neutral(0.462) NULL ZNF732 654254 genome.wustl.edu 37 4 265585 265585 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001137608.1 -1 provisional p.R354I 0.159 91 0% 75 36% - - benign(0.041) tolerated(0.42) neutral(0.017) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF48695,superfamily_SSF57667 ZNF732 654254 genome.wustl.edu 37 4 266087 266087 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001137608.1 -1 provisional p.G187* 0.527 250 0% 174 12.6% - - - - - HMMSmart_ZnF_C2H2,superfamily_SSF48695,superfamily_SSF57667 MIR571 693156 genome.wustl.edu 37 4 344001 344001 + RNA SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000384910 +1 known NULL 0.073 162 0% 92 30.4% - - - - - - ZNF721 170960 genome.wustl.edu 37 4 435883 435883 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_133474.2 -1 validated p.T791 0.000 147 0% 64 25% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF721 170960 genome.wustl.edu 37 4 436358 436358 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_133474.2 -1 validated p.K633T 0.056 320 0% 101 34.7% - - possibly_damaging(0.839) tolerated(0.39) neutral(0.337) superfamily_C2H2 and C2HC zinc fingers PIGG 54872 genome.wustl.edu 37 4 499562 499562 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001127178.1 +1 validated p.S139Y 1.000 69 0% 96 43.8% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Alkaline phosphatase-like PDE6B 5158 genome.wustl.edu 37 4 661650 661650 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000283.3 +1 reviewed p.F786L 0.988 116 0% 216 44.4% - - benign(0.046) tolerated(0.52) neutral(0.011) HMMPfam_PDEase_I,superfamily_HD-domain/PDEase-like ATP5I 521 genome.wustl.edu 37 4 667145 667145 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007100.2 -1 reviewed p.E46G 1.000 573 0% 840 34.5% - - possibly_damaging(0.638) deleterious(0.02) deleterious(0.607) HMMPfam_ATP-synt_E MFSD7 84179 genome.wustl.edu 37 4 678565 678565 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032219.2 -1 provisional p.P222 0.958 14 0% 25 28% - - - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter PCGF3 10336 genome.wustl.edu 37 4 738424 738424 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006315.4 +1 reviewed p.A137V 0.038 73 0% 147 40.1% - - benign(0.011) tolerated(0.31) neutral(0.028) NULL GAK 2580 genome.wustl.edu 37 4 860972 860972 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005255.2 -1 validated p.D882N 0.991 13 0% 27 37% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TMEM175 84286 genome.wustl.edu 37 4 941903 941903 + Splice_Site SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032326.2 +1 provisional e2-1 1.000 216 0% 411 40.4% - - - - - - SLC26A1 10861 genome.wustl.edu 37 4 973266 973266 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_134425.1 -1 reviewed p.Q201H 0.364 192 0% 366 36.6% - - benign(0.066) - - NULL IDUA 3425 genome.wustl.edu 37 4 995733 995733 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000453894 +1 known p.A239T 0.000 21 0% 42 35.7% - - unknown(0) - - HMMPfam_Glyco_hydro_39 IDUA 3425 genome.wustl.edu 37 4 996009 996009 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000453894 +1 known p.R331* 0.000 35 0% 74 13.5% - - - - - HMMPfam_Glyco_hydro_39 WHSC1 7468 genome.wustl.edu 37 4 1902461 1902461 + Missense_Mutation SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001042424.2 +1 reviewed p.I27N 0.994 41 0% 43 34.9% - - possibly_damaging(0.462) deleterious(0) deleterious(0.596) NULL WHSC1 7468 genome.wustl.edu 37 4 1957783 1957783 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001042424.2 +1 reviewed p.E917* 1.000 89 0% 157 42% - - - - - HMMPfam_PWWP,HMMSmart_SM00293,superfamily_Tudor/PWWP/MBT WHSC2 7469 genome.wustl.edu 37 4 1989708 1989708 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005663.3 -1 reviewed p.R202W 1.000 15 0% 36 22.2% - - possibly_damaging(0.772) deleterious(0) deleterious(0.732) NULL ZFYVE28 57732 genome.wustl.edu 37 4 2307145 2307145 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020972.2 -1 validated p.P308S 0.479 20 0% 37 29.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL FAM193A 8603 genome.wustl.edu 37 4 2695559 2695559 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003704.3 +1 validated p.P726L 0.788 45 0% 41 39% - - benign(0.147) deleterious(0.03) neutral(0.378) NULL TNIP2 79155 genome.wustl.edu 37 4 2744128 2744128 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024309.3 -1 validated p.Q382 0.001 26 0% 43 39.5% - - - - - NULL SH3BP2 6452 genome.wustl.edu 37 4 2829399 2829399 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001122681.1 +1 reviewed p.E195G 0.641 28 0% 47 38.3% - - probably_damaging(0.955) deleterious(0.03) deleterious(0.763) NULL SH3BP2 6452 genome.wustl.edu 37 4 2833696 2833696 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001122681.1 +1 reviewed p.E466A 0.815 17 0% 47 36.2% - - possibly_damaging(0.803) deleterious(0.02) deleterious(0.685) HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain RGS12 6002 genome.wustl.edu 37 4 3344679 3344679 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198229.2 +1 reviewed p.R633W 0.008 155 0% 143 37.8% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL RGS12 6002 genome.wustl.edu 37 4 3419135 3419135 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198229.2 +1 reviewed p.S876 0.979 34 0% 73 28.8% - - - - - NULL HGFAC 3083 genome.wustl.edu 37 4 3445845 3445845 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001528.2 +1 reviewed p.H185Q 0.901 9 0.000 37 0.486 - - probably_damaging(0.985) tolerated(0.26) neutral(0.466) HMMPfam_EGF,HMMSmart_EGF,superfamily_SSF57196 HGFAC 3083 genome.wustl.edu 37 4 3445862 3445862 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001528.2 +1 reviewed p.A191V 0.069 9 0.000 36 0.278 - - benign(0.049) tolerated(0.17) neutral(0.062) HMMPfam_EGF,HMMSmart_EGF,PatternScan_EGF_1,superfamily_SSF57196 HGFAC 3083 genome.wustl.edu 37 4 3449357 3449357 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001528.2 +1 reviewed p.L498 0.441 7 0.000 21 0.381 - - - - - HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys OTOP1 133060 genome.wustl.edu 37 4 4214665 4214665 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_177998.1 -1 provisional p.G157V 1.000 55 0% 39 12.8% - - probably_damaging(0.988) tolerated(0.07) deleterious(0.756) HMMPfam_DUF270 OTOP1 133060 genome.wustl.edu 37 4 4228274 4228282 + In_Frame_Del DEL CCACAGCAG CCACAGCAG - rs140419016 byCluster;by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 CCACAGCAG CCACAGCAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_177998.1 -1 provisional p.LLW104in_frame_del 1.000:1.000:1.000:0.995:0.999:0.998:0.998:1.000:1.000 - - - - - - - - - NULL ZBTB49 166793 genome.wustl.edu 37 4 4304245 4304245 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_145291.3 +1 validated p.A228T 0.002 54 0% 28 46.4% - - benign(0) tolerated(1) - NULL STX18 53407 genome.wustl.edu 37 4 4436530 4436530 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000503861 -1 known p.R157* 0.139 290 0.3% 173 37% - - - - - NULL EVC 2121 genome.wustl.edu 37 4 5735121 5735121 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153717.2 +1 reviewed p.L221M 0.852 237 0% 122 47.5% - - unknown(0) deleterious(0.05) - NULL CRMP1 1400 genome.wustl.edu 37 4 5837779 5837779 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001014809.1 -1 reviewed p.A496T 0.997 65 0% 62 45.2% - - benign(0.166) deleterious(0.01) neutral(0.421) HMMPfam_Amidohydro_1,superfamily_Metalo_hydrolase,superfamily_SSF51556 JAKMIP1 152789 genome.wustl.edu 37 4 6037764 6037764 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001099433.1 -1 validated p.A749V 0.996 10 0% 21 42.9% - - benign(0.042) tolerated(0.2) neutral(0.052) NULL WFS1 7466 genome.wustl.edu 37 4 6296740 6296740 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000506362 +1 known p.A106 0.000 15 0% 41 39% - - benign(0.083) tolerated(0.26) neutral(0.040) NULL WFS1 7466 genome.wustl.edu 37 4 6303235 6303235 + Silent SNP C C A rs71524359 TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006005.3 +1 reviewed p.P571 0.004 50 0% 115 25.2% - - - - - NULL KIAA0232 9778 genome.wustl.edu 37 4 6863444 6863444 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001100590.1 +1 validated p.V445 1.000 50 0% 29 48.3% - - - - - NULL KIAA0232 9778 genome.wustl.edu 37 4 6864097 6864097 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001100590.1 +1 validated p.S663Y 1.000 75 0% 33 54.5% - - possibly_damaging(0.887) deleterious(0.01) deleterious(0.752) NULL CCDC96 257236 genome.wustl.edu 37 4 7044269 7044269 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153376.2 -1 validated p.A133T 0.000 12 0% 24 62.5% - - unknown(0) tolerated(0.2) - NULL TADA2B 93624 genome.wustl.edu 37 4 7056185 7056185 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152293.2 +1 validated p.A223T 1.000 20 0% 49 46.9% - - possibly_damaging(0.722) tolerated(0.09) deleterious(0.558) NULL ABLIM2 84448 genome.wustl.edu 37 4 7994609 7994609 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001130083.1 -1 validated p.N555T 1.000 88 0% 110 13.6% - - possibly_damaging(0.706) tolerated(0.08) deleterious(0.554) NULL ABLIM2 84448 genome.wustl.edu 37 4 8010816 8010816 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001130083.1 -1 validated p.S479 0.000 128 0% 165 33.3% - - - - - NULL METTL19 152992 genome.wustl.edu 37 4 8470105 8470105 + Nonstop_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000429676 +1 known p.*412Y 0.003 25 0% 36 44.4% - - - - - NULL LOC650293 650293 genome.wustl.edu 37 4 8952075 8952075 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001040071.1 +1 provisional p.G200E 0.774 225 0% 165 37% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 DEFB131 644414 genome.wustl.edu 37 4 9452101 9452101 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001040448.2 +1 validated p.S25Y 0.078 71 0% 38 21.1% - - benign(0) tolerated(0.68) neutral(0.002) NULL BOD1L 259282 genome.wustl.edu 37 4 13592034 13592034 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_148894.2 -1 validated p.H2729N 0.114 66 0% 25 20% - - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL BOD1L 259282 genome.wustl.edu 37 4 13600700 13600700 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_148894.2 -1 validated p.D2608E 0.000 270 0% 76 48.7% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL BOD1L 259282 genome.wustl.edu 37 4 13606063 13606063 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_148894.2 -1 validated p.R821C 0.993 271 0.4% 121 34.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF81995 CPEB2 132864 genome.wustl.edu 37 4 15009084 15009084 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182485.2 +1 reviewed p.P169 0.196 114 0% 132 27.3% - - - - - NULL CC2D2A 57545 genome.wustl.edu 37 4 15518320 15518320 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080522.2 +1 reviewed p.P364S 1.000 74 0% 60 28.3% - - possibly_damaging(0.937) deleterious(0) deleterious(0.828) NULL FBXL5 26234 genome.wustl.edu 37 4 15626978 15626978 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012161.2 -1 reviewed p.D583Y 1.000 172 0% 67 32.8% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_RNI-like CD38 952 genome.wustl.edu 37 4 15780113 15780113 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001775.2 +1 validated p.L26F 0.001 33 0% 85 40% - - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL FGFBP2 83888 genome.wustl.edu 37 4 15964622 15964622 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031950.3 -1 reviewed p.T44I 0.272 18 0% 20 25% - - possibly_damaging(0.895) deleterious(0.01) deleterious(0.758) HMMPfam_FGF-BP1 CLRN2 645104 genome.wustl.edu 37 4 17524648 17524648 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001079827.2 +1 reviewed p.L139 1.000 77 0% 41 41.5% - - - - - NULL CLRN2 645104 genome.wustl.edu 37 4 17528666 17528666 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001079827.2 +1 reviewed p.I220 0.015 161 0% 96 41.7% - - - - - NULL LAP3 51056 genome.wustl.edu 37 4 17586696 17586696 + Missense_Mutation SNP G G A rs189190228 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015907.2 +1 validated p.R214K 0.799 109 0% 89 12.4% - - benign(0) tolerated(0.87) neutral(0.001) HMMPfam_Peptidase_M17,superfamily_Zn-dependent exopeptidases LAP3 51056 genome.wustl.edu 37 4 17609093 17609093 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015907.2 +1 validated p.D481Y 1.000 154 0% 85 15.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_M17,superfamily_Zn-dependent exopeptidases FAM184B 27146 genome.wustl.edu 37 4 17638232 17638232 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015688.1 -1 validated p.A901 0.002 48 0% 70 30% - - - - - NULL NCAPG 64151 genome.wustl.edu 37 4 17819700 17819700 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022346.3 +1 validated p.D369 0.924 171 0% 126 14.3% - - - - - superfamily_ARM-type_fold SLIT2 9353 genome.wustl.edu 37 4 20620524 20620524 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004787.1 +1 provisional p.P1494 0.001 88 0% 64 40.6% - - - - - HMMSmart_SM00041,PatternScan_CTCK_1 PACRGL 133015 genome.wustl.edu 37 4 20714465 20714465 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_145048.3 +1 validated p.E141* 1.000 204 0% 65 26.2% - - - - - HMMPfam_ParcG PACRGL 133015 genome.wustl.edu 37 4 20715113 20715113 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_145048.3 +1 validated p.V187A 0.377 287 0% 101 31.7% - - benign(0) tolerated(1) - HMMPfam_ParcG KCNIP4 80333 genome.wustl.edu 37 4 21699042 21699042 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001035003.1 -1 reviewed p.R7W 1.000 119 0% 47 40.4% - - probably_damaging(0.995) deleterious(0.02) deleterious(0.841) NULL GBA3 57733 genome.wustl.edu 37 4 22737661 22737661 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020973.3 +1 validated p.G39E 1.000 196 0% 54 37% - - benign(0.085) tolerated(0.22) neutral(0.048) HMMPfam_Glyco_hydro_1,superfamily_(Trans)glycosidases GBA3 57733 genome.wustl.edu 37 4 22749679 22749679 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020973.3 +1 validated p.V349 0.001 29 0% 24 45.8% - - - - - HMMPfam_Glyco_hydro_1,superfamily_(Trans)glycosidases PPARGC1A 10891 genome.wustl.edu 37 4 23833188 23833188 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013261.3 -1 reviewed p.P141S 1.000 132 0% 39 25.6% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL LGI2 55203 genome.wustl.edu 37 4 25005709 25005709 + Missense_Mutation SNP G G A rs191824666 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000282970 -1 known p.S8L 0.994 119 0% 35 25.7% - - unknown(0) - - NULL TBC1D19 55296 genome.wustl.edu 37 4 26750062 26750062 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018317.2 +1 validated p.R450Q 0.998 184 0% 64 37.5% - - probably_damaging(1) tolerated(0.18) deleterious(0.556) HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p ARAP2 116984 genome.wustl.edu 37 4 36126568 36126568 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015230.2 -1 reviewed p.R1221I 1.000 210 0% 40 45% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP KIAA1239 57495 genome.wustl.edu 37 4 37445149 37445149 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001144990.1 +1 validated p.F513 0.305 98 0% 38 39.5% - - - - - NULL KIAA1239 57495 genome.wustl.edu 37 4 37446324 37446324 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001144990.1 +1 validated p.A905V 0.121 83 0% 40 30% - - benign(0) tolerated(0.61) neutral(0.004) NULL PGM2 55276 genome.wustl.edu 37 4 37846157 37846157 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018290.3 +1 validated p.E298K 1.000 113 0% 55 38.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PGM_PMM_II,superfamily_A-D-PHexomutase_a/b/a-I/II/III KLF3 51274 genome.wustl.edu 37 4 38698737 38698737 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016531.5 +1 validated p.C297 1.000 106 0% 34 50% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers TLR1 7096 genome.wustl.edu 37 4 38799482 38799482 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003263.3 -1 reviewed p.S324L 0.996 85 0% 38 39.5% - - possibly_damaging(0.822) deleterious(0.02) deleterious(0.694) superfamily_L domain-like,superfamily_Outer arm dynein light chain 1 TLR1 7096 genome.wustl.edu 37 4 38799876 38799876 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003263.3 -1 reviewed p.H193Y 0.013 77 0% 44 27.3% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_L domain-like WDR19 57728 genome.wustl.edu 37 4 39267745 39267745 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025132.3 +1 reviewed p.N1082 0.026 102 0% 43 44.2% - - - - - superfamily_TPR-like WDR19 57728 genome.wustl.edu 37 4 39271596 39271596 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025132.3 +1 reviewed p.G1120D 1.000 141 0% 93 12.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_TPR-like WDR19 57728 genome.wustl.edu 37 4 39278745 39278745 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025132.3 +1 reviewed p.I1274 1.000 127 0% 94 27.7% - - - - - NULL WDR19 57728 genome.wustl.edu 37 4 39279794 39279794 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025132.3 +1 reviewed p.C1295Y 1.000 99 0% 81 35.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL KLB 152831 genome.wustl.edu 37 4 39409385 39409385 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_175737.3 +1 validated p.N272 1.000 93 0% 42 33.3% - - - - - HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat KLB 152831 genome.wustl.edu 37 4 39435909 39435909 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_175737.3 +1 validated p.S302F 1.000 76 0% 46 45.7% - - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat LIAS 11019 genome.wustl.edu 37 4 39474770 39474770 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006859.2 +1 reviewed p.G335 1.000 187 0% 144 31.2% - - - - - superfamily_SSF102114 UGDH 7358 genome.wustl.edu 37 4 39506055 39506055 + Silent SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003359.3 -1 reviewed p.T415 0.685 148 0% 105 28.6% - - - - - HMMPfam_UDPG_MGDP_dh_C,superfamily_UDP-Glc/GDP-Man_DH_C PDS5A 23244 genome.wustl.edu 37 4 39871079 39871079 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001100399.1 -1 reviewed p.T814A 1.000 153 0% 41 34.1% - - benign(0) tolerated(0.66) neutral(0.003) superfamily_ARM repeat PDS5A 23244 genome.wustl.edu 37 4 39905792 39905792 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001100399.1 -1 reviewed p.A418D 1.000 89 0% 60 48.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HEAT,superfamily_ARM repeat N4BP2 55728 genome.wustl.edu 37 4 40123635 40123635 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018177.3 +1 reviewed p.E1302* 0.014 84 0% 54 31.5% - - - - - NULL RBM47 54502 genome.wustl.edu 37 4 40440025 40440025 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001098634.1 -1 validated p.H296Y 0.819 21 0% 52 28.8% - - benign(0) deleterious(0) neutral(0.445) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD NSUN7 79730 genome.wustl.edu 37 4 40796462 40796462 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024677.4 +1 validated p.Q417 1.000 113 0% 94 41.5% - - - - - superfamily_S-adenosyl-L-methionine-dependent methyltransferases NSUN7 79730 genome.wustl.edu 37 4 40800894 40800894 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024677.4 +1 validated p.D458A 0.079 153 0% 83 26.5% - - benign(0.013) tolerated(0.33) neutral(0.025) superfamily_S-adenosyl-L-methionine-dependent methyltransferases PHOX2B 8929 genome.wustl.edu 37 4 41748282 41748282 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003924.3 -1 reviewed p.A163T 0.953 27 0% 49 14.3% - - unknown(0) tolerated(0.47) - superfamily_Homeodomain-like TMEM33 55161 genome.wustl.edu 37 4 41945777 41945777 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000264452 +1 known p.S52R 1.000 469 0% 216 36.6% - - unknown(0) - - NULL DCAF4L1 285429 genome.wustl.edu 37 4 41984889 41984889 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001029955.3 +1 validated p.E360 1.000 68 0% 60 23.3% - - - - - superfamily_WD40 repeat-like BEND4 389206 genome.wustl.edu 37 4 42127632 42127632 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_207406.3 -1 validated p.L372M 0.135 237 0% 144 43.1% - - benign(0) tolerated(0.22) neutral(0.042) NULL ATP8A1 10396 genome.wustl.edu 37 4 42414958 42414958 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006095.2 -1 reviewed p.T1157M 1.000 164 0% 48 33.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL KCTD8 386617 genome.wustl.edu 37 4 44176853 44176853 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198353.2 -1 validated p.R459H 1.000 141 0% 141 34% - - probably_damaging(0.989) deleterious(0) deleterious(0.884) NULL GABRG1 2565 genome.wustl.edu 37 4 46060509 46060509 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173536.3 -1 reviewed p.T252 0.040 165 0% 44 36.4% - - - - - HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD GABRG1 2565 genome.wustl.edu 37 4 46067589 46067589 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173536.3 -1 reviewed p.D112Y 1.000 82 0% 42 26.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD GABRA2 2555 genome.wustl.edu 37 4 46263974 46263974 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000807.2 -1 reviewed p.A343V 1.000 155 0% 36 30.6% - - probably_damaging(0.993) deleterious(0.01) deleterious(0.856) HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore GABRA2 2555 genome.wustl.edu 37 4 46314544 46314544 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000807.2 -1 reviewed p.Q149K 1.000 171 0% 33 33.3% - - benign(0.323) tolerated(0.3) neutral(0.130) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like CWH43 80157 genome.wustl.edu 37 4 49034645 49034645 + Missense_Mutation SNP A A T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025087.2 +1 validated p.E524V 1.000 124 0% 53 39.6% - - probably_damaging(0.992) tolerated(1) neutral(0.448) NULL LRRC66 339977 genome.wustl.edu 37 4 52860796 52860796 + Silent SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001024611.1 -1 provisional p.R798 0.000 73 0% 28 17.9% - - - - - NULL SPATA18 132671 genome.wustl.edu 37 4 52928416 52928416 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_145263.2 +1 provisional p.P114T 0.000 66 1.5% 33 36.4% - - benign(0) tolerated(0.53) neutral(0.007) NULL SPATA18 132671 genome.wustl.edu 37 4 52945027 52945027 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_145263.2 +1 provisional p.L383I 0.971 249 0% 226 35.8% - - probably_damaging(0.998) tolerated(0.33) deleterious(0.498) NULL SPATA18 132671 genome.wustl.edu 37 4 52948560 52948560 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_145263.2 +1 provisional p.R455C 1.000 80 0% 39 12.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL USP46 64854 genome.wustl.edu 37 4 53468174 53468174 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022832.3 -1 validated p.R257W 1.000 83 1.2% 49 22.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UCH,superfamily_Cysteine proteinases LOC100288413 100288413 genome.wustl.edu 37 4 53611519 53611519 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002342451.1 -1 model p.E57K 0.473 114 0% 107 31.8% - - - - - NULL SCFD2 152579 genome.wustl.edu 37 4 54231607 54231607 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152540.3 -1 validated p.A168T 0.884 77 0% 95 40% - - possibly_damaging(0.923) tolerated(0.26) neutral(0.406) NULL FIP1L1 81608 genome.wustl.edu 37 4 54325595 54325595 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030917.3 +1 reviewed p.T588 0.371 51 0% 27 48.1% - - - - - NULL GSX2 170825 genome.wustl.edu 37 4 54968005 54968005 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_133267.2 +1 validated p.S277R 0.982 67 0% 118 37.3% - - benign(0.096) tolerated(0.06) neutral(0.330) NULL KIT 3815 genome.wustl.edu 37 4 55604706 55604706 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000222.2 +1 reviewed p.V972M 0.026 78 0% 31 38.7% - - benign(0.093) tolerated(0.14) neutral(0.257) NULL EXOC1 55763 genome.wustl.edu 37 4 56770542 56770542 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001024924.1 +1 reviewed p.R856C 1.000 163 0% 41 36.6% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Sec3 CEP135 9662 genome.wustl.edu 37 4 56818314 56818314 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025009.3 +1 validated p.E6 1.000 61 0% 78 42.3% - - - - - NULL SRP72 6731 genome.wustl.edu 37 4 57356508 57356508 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006947.3 +1 validated p.P444S 0.975 127 0% 56 41.1% - - benign(0) tolerated(0.71) neutral(0.002) superfamily_SSF48452 POLR2B 5431 genome.wustl.edu 37 4 57888373 57888373 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000938.1 +1 reviewed p.E826* 1.000 193 0% 73 19.2% - - - - - HMMPfam_RNA_pol_Rpb2_6,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase CENPC1 1060 genome.wustl.edu 37 4 68358653 68358653 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001812.2 -1 reviewed p.E785* 0.478 338 0% 95 25.3% - - - - - NULL STAP1 26228 genome.wustl.edu 37 4 68424542 68424542 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012108.2 +1 reviewed p.K5 1.000 86 0% 57 40.4% - - - - - NULL STAP1 26228 genome.wustl.edu 37 4 68447165 68447165 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012108.2 +1 reviewed p.V169A 0.996 213 0% 58 29.3% - - benign(0) tolerated(1) - superfamily_SH2 domain TMPRSS11D 9407 genome.wustl.edu 37 4 68719799 68719799 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004262.2 -1 reviewed p.R79I 0.001 111 0% 36 22.2% - - probably_damaging(0.979) tolerated(0.26) neutral(0.456) HMMPfam_SEA,HMMSmart_SEA,superfamily_SSF82671 TMPRSS11D 9407 genome.wustl.edu 37 4 68725389 68725389 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004262.2 -1 reviewed p.R6C 0.048 105 0% 18 44.4% - - probably_damaging(0.955) tolerated(0.06) deleterious(0.721) NULL TMPRSS11F 389208 genome.wustl.edu 37 4 68934361 68934361 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_207407.2 -1 validated p.L244I 1.000 46 0% 21 38.1% - - benign(0.243) tolerated(0.56) neutral(0.031) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys,PatternScan_TRYPSIN_HIS TMPRSS11F 389208 genome.wustl.edu 37 4 68934477 68934477 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_207407.2 -1 validated p.R205I 0.985 43 0% 19 47.4% - - probably_damaging(0.99) deleterious(0.01) deleterious(0.847) HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys UGT2B15 7366 genome.wustl.edu 37 4 69536055 69536055 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001076.2 -1 validated p.L94 0.000 104 0% 37 43.2% - - - - - HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT2B10 7365 genome.wustl.edu 37 4 69681828 69681828 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001075.4 +1 validated p.E31* 0.551 209 0% 38 28.9% - - - - - HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT2B10 7365 genome.wustl.edu 37 4 69681921 69681921 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001075.4 +1 validated p.L62I 0.001 180 0% 39 33.3% - - benign(0.004) tolerated(0.3) neutral(0.029) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT2B10 7365 genome.wustl.edu 37 4 69682212 69682212 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001075.4 +1 validated p.L159M 0.845 350 0% 59 42.4% - - possibly_damaging(0.592) tolerated(0.18) neutral(0.261) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT2B10 7365 genome.wustl.edu 37 4 69696481 69696481 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001075.4 +1 validated p.D491N 1.000 516 0% 102 37.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UDPGT UGT2A3 79799 genome.wustl.edu 37 4 69817241 69817241 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024743.3 -1 validated p.P80S 0.000 58 0% 12 33.3% - - benign(0.006) tolerated(0.93) - HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT2B7 7364 genome.wustl.edu 37 4 69978293 69978293 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001074.2 +1 validated p.R477W 0.144 337 0% 301 32.9% - - benign(0.29) deleterious(0) deleterious(0.534) HMMPfam_UDPGT UGT2B28 54490 genome.wustl.edu 37 4 70146564 70146564 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_053039.1 +1 provisional p.L116M 0.000 228 0% 43 32.6% - - benign(0) tolerated(0.84) neutral(0.001) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT2B4 7363 genome.wustl.edu 37 4 70350971 70350971 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021139.2 -1 validated p.S422I 0.001 295 0% 51 25.5% - - probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT2B4 7363 genome.wustl.edu 37 4 70352375 70352375 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021139.2 -1 validated p.G348* 0.986 410 0% 100 38% - - - - - HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT2A1 10941 genome.wustl.edu 37 4 70513300 70513300 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006798.2 -1 validated p.G21 1.000 95 0% 27 29.6% - - - - - HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase SULT1E1 6783 genome.wustl.edu 37 4 70721060 70721060 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005420.2 -1 reviewed p.R77Q 0.116 335 0% 172 39% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases CSN2 1447 genome.wustl.edu 37 4 70823066 70823066 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001891.2 -1 validated p.E201* 0.011 220 0% 62 37.1% - - - - - HMMPfam_Casein ENAM 10117 genome.wustl.edu 37 4 71509234 71509234 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031889.2 +1 reviewed p.K697N 0.597 91 0% 42 40.5% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL MOB1B 92597 genome.wustl.edu 37 4 71824608 71824608 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173468.2 +1 reviewed p.K11T 1.000 87 0% 50 42% - - possibly_damaging(0.594) deleterious(0.02) deleterious(0.588) NULL DCK 1633 genome.wustl.edu 37 4 71888137 71888137 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000788.2 +1 reviewed p.E87D 1.000 140 0% 113 36.3% - - benign(0) tolerated(0.62) neutral(0.004) superfamily_SSF52540 SLC4A4 8671 genome.wustl.edu 37 4 72423507 72423507 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001134742.1 +1 reviewed p.R948C 1.000 171 0% 31 29% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_HCO3_cotransp GC 2638 genome.wustl.edu 37 4 72622609 72622609 + Missense_Mutation SNP A A T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000583.2 -1 reviewed p.L285H 0.941 79 0% 27 33.3% - - probably_damaging(0.986) deleterious(0) deleterious(0.879) superfamily_Serum albumin-like,HMMPfam_Serum_albumin,HMMSmart_SM00103 NPFFR2 10886 genome.wustl.edu 37 4 72994473 72994473 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004885.2 +1 reviewed p.I157 1.000 316 0% 230 34.8% - - - - - superfamily_Family A G protein-coupled receptor-like ANKRD17 26057 genome.wustl.edu 37 4 73957624 73957624 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032217.3 -1 reviewed p.R1907 1.000 136 0% 59 32.2% - - - - - NULL ANKRD17 26057 genome.wustl.edu 37 4 73964157 73964157 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032217.3 -1 reviewed p.A1552T 1.000 139 0% 110 35.5% - - benign(0.004) tolerated(1) - NULL ANKRD17 26057 genome.wustl.edu 37 4 74021793 74021793 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032217.3 -1 reviewed p.E265D 1.000 120 0% 65 30.8% - - benign(0.406) tolerated(0.11) neutral(0.402) HMMPfam_Ank,superfamily_Ankyrin repeat ANKRD17 26057 genome.wustl.edu 37 4 74027050 74027050 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032217.3 -1 reviewed p.S188F 1.000 120 0% 62 32.3% - - probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL AFP 174 genome.wustl.edu 37 4 74309095 74309095 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001134.1 +1 reviewed p.S216I 0.965 142 0% 87 24.1% - - benign(0.001) deleterious(0.04) neutral(0.349) superfamily_Serum_albumin,HMMSmart_ALBUMIN AFP 174 genome.wustl.edu 37 4 74315054 74315054 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001134.1 +1 reviewed p.F354C 0.945 144 0% 43 37.2% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_Serum_albumin,HMMPfam_Serum_albumin,HMMSmart_ALBUMIN AFP 174 genome.wustl.edu 37 4 74318155 74318155 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001134.1 +1 reviewed p.E489G 0.376 225 0% 55 32.7% - - benign(0.086) deleterious(0.01) neutral(0.412) superfamily_Serum_albumin,HMMPfam_Serum_albumin,HMMSmart_ALBUMIN AFM 173 genome.wustl.edu 37 4 74351626 74351626 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001133.2 +1 reviewed p.Q106H 0.375 109 0% 39 28.2% - - probably_damaging(0.986) deleterious(0.02) deleterious(0.818) superfamily_Serum albumin-like,HMMPfam_Serum_albumin,HMMSmart_SM00103 AFM 173 genome.wustl.edu 37 4 74367597 74367597 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001133.2 +1 reviewed p.C580 0.063 155 0% 29 17.2% - - - - - PatternScan_ALBUMIN,superfamily_Serum albumin-like,HMMPfam_Serum_albumin,HMMSmart_SM00103 CXCL5 6374 genome.wustl.edu 37 4 74864018 74864018 + Silent SNP G G A rs187709912 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002994.3 -1 reviewed p.C49 0.035 130 0% 144 41% - - - - - HMMPfam_IL8,HMMSmart_SM00199,superfamily_Interleukin 8-like chemokines,PatternScan_SMALL_CYTOKINES_CXC AREGB 727738 genome.wustl.edu 37 4 75482220 75482220 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_001125684.2 +1 model p.Q92H 0.012 109 0% 75 13.3% - - benign(0.002) tolerated(0.26) neutral(0.034) NULL RCHY1 25898 genome.wustl.edu 37 4 76434397 76434397 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015436.2 -1 reviewed p.K67T 0.997 102 0% 67 35.8% - - benign(0) tolerated(1) - HMMPfam_zf-CHY PPEF2 5470 genome.wustl.edu 37 4 76817440 76817440 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006239.2 -1 reviewed p.F13L 0.998 189 0% 114 33.3% - - benign(0) tolerated(0.88) - NULL SDAD1 55153 genome.wustl.edu 37 4 76877225 76877225 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018115.2 -1 validated p.S640L 1.000 559 0% 224 33.5% - - benign(0.07) tolerated(0.19) neutral(0.054) HMMPfam_SDA1 SOWAHB 345079 genome.wustl.edu 37 4 77817767 77817767 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001029870.1 -1 provisional p.P412 0.082 27 0% 57 31.6% - - - - - NULL CCNI 10983 genome.wustl.edu 37 4 77969732 77969732 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000515468 -1 known p.R58C 1.000 108 0% 44 22.7% - - - - - NULL CCNG2 901 genome.wustl.edu 37 4 78085481 78085481 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004354.2 +1 reviewed p.E254K 0.998 52 0% 60 36.7% - - possibly_damaging(0.909) deleterious(0.05) deleterious(0.708) NULL FRAS1 80144 genome.wustl.edu 37 4 79391216 79391216 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025074.6 +1 reviewed p.L2447F 0.993 104 0% 28 35.7% - - probably_damaging(1) tolerated(0.06) deleterious(0.823) NULL BMP2K 55589 genome.wustl.edu 37 4 79782542 79782542 + Splice_Site SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198892.1 +1 reviewed e9-1 1.000 153 0% 25 36% - - - - - - GK2 2712 genome.wustl.edu 37 4 80329126 80329126 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033214.2 -1 validated p.E77K 0.027 229 0.9% 170 38.2% - - benign(0) tolerated(0.92) - HMMPfam_FGGY_N,superfamily_SSF53067 PRDM8 56978 genome.wustl.edu 37 4 81121304 81121304 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001099403.1 +1 validated p.D24Y 1.000 107 0% 184 34.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL BMP3 651 genome.wustl.edu 37 4 81952562 81952562 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001201.2 +1 reviewed p.A42T 0.356 9 0.000 27 0.370 - - benign(0.001) tolerated(0.44) neutral(0.013) NULL HNRNPD 3184 genome.wustl.edu 37 4 83277987 83277987 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031370.2 -1 reviewed p.R272K 1.000 387 0% 106 32.1% - - benign(0.134) tolerated(0.16) neutral(0.071) superfamily_RNA-binding domain RBD HNRPDL 9987 genome.wustl.edu 37 4 83350825 83350825 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031372.2 -1 reviewed p.L7F 1.000 14 0% 59 32.2% - - benign(0.113) deleterious(0) neutral(0.454) NULL SEC31A 22872 genome.wustl.edu 37 4 83788017 83788017 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000507828 -1 known p.A23V 0.324 140 0% 83 39.8% - - - - - NULL THAP9 79725 genome.wustl.edu 37 4 83828981 83828981 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024672.4 +1 validated p.Y208 0.989 131 0% 94 11.7% - - - - - NULL THAP9 79725 genome.wustl.edu 37 4 83838842 83838842 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024672.4 +1 validated p.L493 0.008 89 0% 40 35% - - - - - NULL COPS4 51138 genome.wustl.edu 37 4 83996583 83996583 + Nonstop_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016129.2 +1 reviewed p.*407W 0.999 147 0% 65 27.7% - - - - - NULL PLAC8 51316 genome.wustl.edu 37 4 84028958 84028958 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001130715.1 -1 validated p.V39 0.997 23 0% 38 34.2% - - - - - HMMPfam_PLAC8 HPSE 10855 genome.wustl.edu 37 4 84231930 84231930 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001098540.1 -1 validated p.L263I 1.000 212 0% 101 40.6% - - probably_damaging(0.99) tolerated(0.11) deleterious(0.713) HMMPfam_Glyco_hydro_79n,superfamily_(Trans)glycosidases HELQ 113510 genome.wustl.edu 37 4 84376635 84376635 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_133636.2 -1 validated p.S71F 0.000 87 0% 52 42.3% - - benign(0) deleterious(0) neutral(0.445) NULL AGPAT9 84803 genome.wustl.edu 37 4 84516026 84516026 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032717.3 +1 validated p.G256E 1.000 288 0% 53 37.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Acyltransferase,HMMSmart_PlsC NKX6-1 4825 genome.wustl.edu 37 4 85419205 85419205 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006168.2 -1 validated p.S59 0.995 11 0% 17 29.4% - - - - - NULL PTPN13 5783 genome.wustl.edu 37 4 87637691 87637691 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_080685.2 +1 reviewed p.R402* 0.922 168 0% 39 30.8% - - - - - NULL PTPN13 5783 genome.wustl.edu 37 4 87655550 87655550 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_080685.2 +1 reviewed p.T651 0.136 179 0% 51 27.5% - - - - - HMMPfam_FERM_N,HMMSmart_B41,superfamily_SSF54236 AFF1 4299 genome.wustl.edu 37 4 88048218 88048218 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005935.2 +1 validated p.S944Y 1.000 177 0% 107 33.6% - - unknown(0) deleterious(0.03) - HMMPfam_AF-4 AFF1 4299 genome.wustl.edu 37 4 88052983 88052983 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005935.2 +1 validated p.A1040V 0.191 298 0% 111 33.3% - - unknown(0) tolerated(0.2) - HMMPfam_AF-4 HSD17B11 51170 genome.wustl.edu 37 4 88278497 88278497 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016245.3 -1 validated p.G210E 0.997 234 0% 166 30.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_NAD(P)-binding Rossmann-fold domains DSPP 1834 genome.wustl.edu 37 4 88535199 88535199 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014208.3 +1 reviewed p.G462E 1.000 271 0% 95 27.4% - - probably_damaging(0.999) - - NULL DSPP 1834 genome.wustl.edu 37 4 88535707 88535707 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014208.3 +1 reviewed p.S631 0.982 624 0.2% 197 36% - - - - - NULL DMP1 1758 genome.wustl.edu 37 4 88584362 88584362 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004407.3 +1 reviewed p.D478Y 0.809 80 0% 56 32.1% - - unknown(0) deleterious(0) - HMMPfam_DMP1 IBSP 3381 genome.wustl.edu 37 4 88723676 88723676 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004967.3 +1 reviewed p.R24Q 0.884 68 0% 22 36.4% - - benign(0.122) tolerated(0.07) neutral(0.329) HMMPfam_BSP_II IBSP 3381 genome.wustl.edu 37 4 88733006 88733006 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004967.3 +1 reviewed p.F300L 1.000 56 0% 20 35% - - benign(0.125) deleterious(0.02) neutral(0.394) HMMPfam_BSP_II ABCG2 9429 genome.wustl.edu 37 4 89042827 89042827 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004827.2 -1 reviewed p.D217Y 1.000 144 0% 41 41.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases HERC5 51191 genome.wustl.edu 37 4 89426989 89426989 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016323.2 +1 reviewed p.A1012V 0.921 51 0% 25 16% - - probably_damaging(0.959) deleterious(0.04) deleterious(0.752) HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain HERC3 8916 genome.wustl.edu 37 4 89526975 89526975 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014606.1 +1 provisional p.M1L 1.000 138 0% 93 40.9% - - benign(0.005) deleterious(0) neutral(0.445) superfamily_RCC1/BLIP-II FAM13A 10144 genome.wustl.edu 37 4 89859330 89859330 + Missense_Mutation SNP A A T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014883.2 -1 validated p.I223N 0.999 176 0% 30 43.3% - - unknown(0) deleterious(0) - HMMSmart_RhoGAP,superfamily_Rho_GAP GPRIN3 285513 genome.wustl.edu 37 4 90169351 90169351 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198281.2 -1 validated p.R637 0.085 71 0% 35 34.3% - - - - - NULL MMRN1 22915 genome.wustl.edu 37 4 90856421 90856421 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007351.2 +1 reviewed p.K530N 0.300 67 0% 15 33.3% - - benign(0.406) tolerated(0.3) neutral(0.159) NULL MMRN1 22915 genome.wustl.edu 37 4 90856927 90856927 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007351.2 +1 reviewed p.H699R 1.000 79 0% 32 34.4% - - possibly_damaging(0.84) deleterious(0.03) deleterious(0.686) NULL MMRN1 22915 genome.wustl.edu 37 4 90857095 90857095 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007351.2 +1 reviewed p.I755S 0.000 66 0% 15 60% - - benign(0.073) deleterious(0.02) neutral(0.388) NULL MMRN1 22915 genome.wustl.edu 37 4 90874482 90874482 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007351.2 +1 reviewed p.E1200D 1.000 92 0% 39 43.6% - - probably_damaging(0.996) deleterious(0.02) deleterious(0.845) HMMPfam_C1q,HMMSmart_SM00110,superfamily_TNF-like GRID2 2895 genome.wustl.edu 37 4 94690558 94690558 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001510.2 +1 validated p.T853M 1.000 111 0% 28 25% - - benign(0.104) tolerated(0.1) neutral(0.294) NULL HPGDS 27306 genome.wustl.edu 37 4 95255696 95255696 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014485.2 -1 reviewed p.Y29H 0.979 305 0% 196 34.7% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_GST_N,superfamily_Thioredoxin-like PDLIM5 10611 genome.wustl.edu 37 4 95497060 95497060 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006457.3 +1 reviewed p.S195 0.953 114 0% 51 33.3% - - - - - NULL BMPR1B 658 genome.wustl.edu 37 4 96070026 96070026 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001203.2 +1 reviewed p.S402G 1.000 152 0% 57 15.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase RAP1GDS1 5910 genome.wustl.edu 37 4 99313168 99313168 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001100426.1 +1 validated p.H193Y 1.000 173 0% 37 32.4% - - possibly_damaging(0.794) tolerated(0.28) neutral(0.330) HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat RAP1GDS1 5910 genome.wustl.edu 37 4 99338015 99338015 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001100426.1 +1 validated p.L296F 1.000 205 0.5% 64 34.4% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_ARM repeat RAP1GDS1 5910 genome.wustl.edu 37 4 99342406 99342406 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001100426.1 +1 validated p.A435V 1.000 174 0% 81 37% - - benign(0.001) tolerated(0.14) neutral(0.249) superfamily_ARM repeat METAP1 23173 genome.wustl.edu 37 4 99978954 99978954 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015143.2 +1 validated p.P328S 1.000 364 0% 140 28.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_M24,superfamily_Creatinase/aminopeptidase ADH4 127 genome.wustl.edu 37 4 100052815 100052815 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000670.3 -1 reviewed p.I228T 0.952 134 0% 48 22.9% - - benign(0.149) deleterious(0) neutral(0.458) HMMPfam_ADH_zinc_N,superfamily_NAD(P)-binding Rossmann-fold domains ADH4 127 genome.wustl.edu 37 4 100062755 100062755 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000670.3 -1 reviewed p.V67I 0.911 89 0% 30 30% - - benign(0.004) deleterious(0) neutral(0.445) superfamily_GroES-like,HMMPfam_ADH_N ADH1C 126 genome.wustl.edu 37 4 100264093 100264093 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000669.3 -1 reviewed p.K229N 0.982 411 0% 104 34.6% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_ADH_zinc_N,superfamily_NAD(P)-binding Rossmann-fold domains ADH7 131 genome.wustl.edu 37 4 100348939 100348939 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000673.4 -1 reviewed p.K197N 0.012 155 0% 25 44% - - benign(0.003) tolerated(1) - superfamily_GroES_like,superfamily_NAD(P)-bd ADH7 131 genome.wustl.edu 37 4 100356224 100356224 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000476959 -1 known p.T13I 0.000 209 0% 49 36.7% - - benign(0.095) - - NULL DAPP1 27071 genome.wustl.edu 37 4 100774438 100774438 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014395.2 +1 validated p.S141Y 0.959 145 0% 65 43.1% - - possibly_damaging(0.834) tolerated(0.17) neutral(0.377) superfamily_SH2 domain H2AFZ 3015 genome.wustl.edu 37 4 100869979 100869979 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002106.3 -1 reviewed p.I105S 1.000 171 0% 225 36% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00414 PPP3CA 5530 genome.wustl.edu 37 4 101950332 101950332 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000944.4 -1 validated p.A454T 1.000 64 0% 26 42.3% - - probably_damaging(0.995) tolerated(0.35) deleterious(0.478) superfamily_Metallo-dependent phosphatases BANK1 55024 genome.wustl.edu 37 4 102816512 102816512 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017935.4 +1 reviewed p.E318D 1.000 124 0% 51 35.3% - - possibly_damaging(0.862) tolerated(0.21) neutral(0.377) NULL SLC39A8 64116 genome.wustl.edu 37 4 103188652 103188652 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001135146.1 -1 reviewed p.D410Y 1.000 57 0% 27 48.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Zip NFKB1 4790 genome.wustl.edu 37 4 103504110 103504110 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003998.3 +1 reviewed p.R308I 1.000 141 0% 31 16.1% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_ANK,HMMPfam_TIG,HMMSmart_IPT,superfamily_Ig_E-set NFKB1 4790 genome.wustl.edu 37 4 103517332 103517332 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003998.3 +1 reviewed p.G446 0.001 83 0% 20 20% - - - - - superfamily_ANK NFKB1 4790 genome.wustl.edu 37 4 103527740 103527740 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003998.3 +1 reviewed p.R614C 1.000 212 0% 85 32.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ank,superfamily_ANK MANBA 4126 genome.wustl.edu 37 4 103647809 103647809 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005908.3 -1 reviewed p.Y70C 1.000 156 0.6% 89 30.3% - - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) superfamily_Gal_bind_like CISD2 493856 genome.wustl.edu 37 4 103808505 103808505 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001008388.3 +1 reviewed p.A109V 1.000 135 0.7% 64 9.4% - - benign(0) tolerated(0.24) neutral(0.037) HMMSmart_SM00704,HMMPfam_zf-CDGSH SLC9B2 133308 genome.wustl.edu 37 4 103966152 103966152 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178833.4 -1 validated p.G297 0.983 129 0% 62 33.9% - - - - - HMMPfam_Na_H_Exchanger TACR3 6870 genome.wustl.edu 37 4 104640773 104640773 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001059.1 -1 reviewed p.D20 0.000 29 0% 47 48.9% - - - - - NULL ARHGEF38 54848 genome.wustl.edu 37 4 106510529 106510529 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017700.1 +1 validated p.K107N 0.626 128 0% 47 27.7% - - possibly_damaging(0.783) deleterious(0.03) deleterious(0.657) HMMPfam_RhoGEF,superfamily_DH-domain NPNT 255743 genome.wustl.edu 37 4 106888484 106888484 + Silent SNP C C G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001033047.2 +1 validated p.G495 0.908 41 0% 17 35.3% - - - - - HMMPfam_MAM,HMMSmart_SM00137 DKK2 27123 genome.wustl.edu 37 4 107845774 107845774 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014421.2 -1 reviewed p.G153S 0.742 274 0% 88 33% - - benign(0) tolerated(0.49) neutral(0.011) NULL SGMS2 166929 genome.wustl.edu 37 4 108824428 108824428 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001136257.1 +1 reviewed p.R205* 0.814 228 0% 43 34.9% - - - - - NULL AGXT2L1 64850 genome.wustl.edu 37 4 109680942 109680942 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031279.3 -1 validated p.P100S 1.000 141 0% 137 36.5% - - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_Aminotran_3,superfamily_PLP-dependent transferases COL25A1 84570 genome.wustl.edu 37 4 109862535 109862535 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198721.1 -1 validated p.R184H 1.000 73 0% 35 37.1% - - unknown(0) tolerated(0.11) - NULL LOC389217 389217 genome.wustl.edu 37 4 110474797 110474797 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_001717714.1 -1 model p.L165I 1.000 19 0% 21 47.6% - - - - - HMMPfam_NAP LRIT3 345193 genome.wustl.edu 37 4 110790965 110790965 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198506.2 +1 validated p.P309S 0.068 203 0% 67 38.8% - - benign(0) tolerated(0.3) neutral(0.029) NULL EGF 1950 genome.wustl.edu 37 4 110914495 110914495 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001963.4 +1 reviewed p.R943C 0.000 125 0% 53 30.2% - - benign(0.015) tolerated(0.13) neutral(0.253) superfamily_SSF57196 EGF 1950 genome.wustl.edu 37 4 110920910 110920910 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001963.4 +1 reviewed p.H1027 0.000 79 0% 53 34% - - - - - NULL PITX2 5308 genome.wustl.edu 37 4 111539513 111539513 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000325.5 -1 reviewed p.S248I 1.000 90 0% 147 12.9% - - benign(0.026) deleterious(0.03) neutral(0.365) NULL C4orf32 132720 genome.wustl.edu 37 4 113108007 113108007 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152400.2 +1 validated p.F104L 1.000 257 0% 91 33% - - probably_damaging(0.993) tolerated(0.08) deleterious(0.750) NULL C4orf21 55345 genome.wustl.edu 37 4 113506798 113506798 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000505019 -1 known p.L1334V 0.000 218 0% 58 27.6% - - benign(0) tolerated(1) - NULL ANK2 287 genome.wustl.edu 37 4 114209620 114209620 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001148.4 +1 reviewed p.A752V 1.000 170 0% 82 30.5% - - probably_damaging(0.988) deleterious(0.02) deleterious(0.821) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK ANK2 287 genome.wustl.edu 37 4 114251539 114251539 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001148.4 +1 reviewed p.R1013K 0.827 61 0% 17 23.5% - - benign(0.004) tolerated(1) - HMMPfam_ZU5 ANK2 287 genome.wustl.edu 37 4 114274469 114274469 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001148.4 +1 reviewed p.I1565 0.993 87 0% 24 25% - - - - - NULL CAMK2D 817 genome.wustl.edu 37 4 114435059 114435059 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001221.3 -1 reviewed p.T277I 1.000 101 0% 41 43.9% - - possibly_damaging(0.921) deleterious(0.02) deleterious(0.754) superfamily_Protein kinase-like (PK-like) CAMK2D 817 genome.wustl.edu 37 4 114680521 114680521 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001221.3 -1 reviewed p.E39* 1.000 95 0% 151 40.4% - - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase UGT8 7368 genome.wustl.edu 37 4 115544117 115544117 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001128174.1 +1 validated p.P27 1.000 124 0% 64 37.5% - - - - - HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT8 7368 genome.wustl.edu 37 4 115597145 115597145 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001128174.1 +1 validated p.R443* 1.000 178 0% 106 31.1% - - - - - HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase NDST3 9348 genome.wustl.edu 37 4 119161689 119161689 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004784.2 +1 reviewed p.S710* 0.999 75 1.3% 36 16.7% - - - - - HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases PRSS12 8492 genome.wustl.edu 37 4 119239704 119239704 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003619.2 -1 reviewed p.A327T 1.000 133 0% 37 40.5% - - possibly_damaging(0.935) tolerated(0.35) neutral(0.401) HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like PDE5A 8654 genome.wustl.edu 37 4 120423784 120423784 + Missense_Mutation SNP A A T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001083.3 -1 reviewed p.F786L 1.000 111 0% 28 32.1% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_PDEase_I,superfamily_HD-domain/PDEase-like PRDM5 11107 genome.wustl.edu 37 4 121675722 121675722 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018699.2 -1 reviewed p.R537C 1.000 129 0% 52 42.3% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers PRDM5 11107 genome.wustl.edu 37 4 121698373 121698373 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018699.2 -1 reviewed p.T503A 1.000 135 0% 33 27.3% - - benign(0.287) tolerated(0.36) neutral(0.108) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers QRFPR 84109 genome.wustl.edu 37 4 122250727 122250727 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198179.2 -1 validated p.A346 0.843 154 0% 64 43.8% - - - - - superfamily_SSF81321 BBS7 55212 genome.wustl.edu 37 4 122780282 122780282 + Missense_Mutation SNP A A T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_176824.1 -1 reviewed p.H131Q 1.000 81 0% 34 32.4% - - probably_damaging(1) tolerated(0.17) deleterious(0.559) NULL TRPC3 7222 genome.wustl.edu 37 4 122853675 122853675 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001130698.1 -1 validated p.Y246 1.000 48 0% 72 27.8% - - - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK KIAA1109 84162 genome.wustl.edu 37 4 123226034 123226034 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015312.3 +1 reviewed p.R3190* 1.000 101 0% 20 55% - - - - - NULL KIAA1109 84162 genome.wustl.edu 37 4 123283343 123283343 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015312.3 +1 reviewed p.L4987I 1.000 134 0% 56 32.1% - - probably_damaging(0.995) tolerated(0.23) deleterious(0.499) HMMPfam_FSA_C SPATA5 166378 genome.wustl.edu 37 4 123857301 123857301 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_145207.2 +1 validated p.A442T 1.000 50 0% 24 75% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00382,HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases ANKRD50 57182 genome.wustl.edu 37 4 125590981 125590981 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020337.2 -1 validated p.R1151C 0.989 70 0% 25 36% - - probably_damaging(0.995) tolerated(0.07) deleterious(0.776) superfamily_ANK ANKRD50 57182 genome.wustl.edu 37 4 125591853 125591853 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020337.2 -1 validated p.R860I 1.000 142 0% 39 43.6% - - benign(0.081) tolerated(0.2) neutral(0.055) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK FAT4 79633 genome.wustl.edu 37 4 126238715 126238715 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024582.4 +1 validated p.T383 0.000 17 0% 34 29.4% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT4 79633 genome.wustl.edu 37 4 126241242 126241242 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024582.4 +1 validated p.L1226 0.999 48 0% 50 46% - - - - - HMMPfam_Cadherin,superfamily_Cadherin-like FAT4 79633 genome.wustl.edu 37 4 126241552 126241552 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024582.4 +1 validated p.R1329I 1.000 123 0% 109 33% - - probably_damaging(0.995) tolerated(0.06) deleterious(0.780) HMMPfam_Cadherin,superfamily_Cadherin-like FAT4 79633 genome.wustl.edu 37 4 126329661 126329661 + Missense_Mutation SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024582.4 +1 validated p.Y1878N 1.000 134 0% 43 30.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT4 79633 genome.wustl.edu 37 4 126337702 126337702 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024582.4 +1 validated p.E2315* 1.000 202 0% 49 36.7% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT4 79633 genome.wustl.edu 37 4 126400929 126400929 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024582.4 +1 validated p.S4169 1.000 86 0% 35 22.9% - - - - - HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases FAT4 79633 genome.wustl.edu 37 4 126411114 126411114 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024582.4 +1 validated p.S4379 0.384 102 0% 75 26.7% - - - - - superfamily_Concanavalin A-like lectins/glucanases FAT4 79633 genome.wustl.edu 37 4 126411741 126411741 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024582.4 +1 validated p.N4588 1.000 141 0% 72 26.4% - - - - - NULL HSPA4L 22824 genome.wustl.edu 37 4 128703808 128703808 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014278.2 +1 provisional p.T35A 1.000 46 0% 79 20.3% - - possibly_damaging(0.946) deleterious(0) deleterious(0.835) HMMPfam_HSP70,superfamily_SSF53067 PLK4 10733 genome.wustl.edu 37 4 128807847 128807847 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014264.3 +1 reviewed p.S441Y 0.997 75 0% 59 32.2% - - probably_damaging(0.983) deleterious(0.05) deleterious(0.774) superfamily_Kinase_like PLK4 10733 genome.wustl.edu 37 4 128811378 128811378 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014264.3 +1 reviewed p.T606I 1.000 61 0% 41 46.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Kinase_like PGRMC2 10424 genome.wustl.edu 37 4 129193672 129193672 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006320.4 -1 validated p.A140V 1.000 74 0% 31 19.4% - - benign(0.221) deleterious(0.02) neutral(0.405) HMMPfam_Cyt-b5,superfamily_Cyt_B5 PCDH18 54510 genome.wustl.edu 37 4 138452934 138452934 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_019035.3 -1 reviewed p.N103 1.000 148 0% 42 16.7% - - - - - HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like MAML3 55534 genome.wustl.edu 37 4 140651729 140651729 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000502696 -1 known p.P68L 0.001 36 0% 58 39.7% - - - - - NULL MAML3 55534 genome.wustl.edu 37 4 141074475 141074475 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018717.4 -1 validated p.D3N 1.000 6 0.000 7 0.571 - - unknown(0) deleterious(0) - NULL SMARCA5 8467 genome.wustl.edu 37 4 144460077 144460077 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003601.2 +1 reviewed p.D586N 1.000 160 0% 42 35.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Helicase_C,HMMSmart_HELICc,superfamily_SSF52540 FREM3 166752 genome.wustl.edu 37 4 144617524 144617524 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000329798 -1 known p.T1435 0.983 246 0% 233 38.6% - - - - - NULL GYPB 2994 genome.wustl.edu 37 4 144918706 144918706 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002100.3 -1 reviewed p.R86H 0.001 259 0% 53 18.9% - - unknown(0) deleterious(0) - HMMPfam_Glycophorin_A HHIP 64399 genome.wustl.edu 37 4 145640091 145640091 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022475.1 +1 reviewed p.K581N 1.000 183 0% 50 38% - - probably_damaging(0.989) deleterious(0) deleterious(0.884) superfamily_Soluble quinoprotein glucose dehydrogenase ABCE1 6059 genome.wustl.edu 37 4 146041162 146041162 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001040876.1 +1 reviewed p.A334V 1.000 121 0% 28 32.1% - - benign(0.313) tolerated(0.12) neutral(0.358) superfamily_P-loop containing nucleoside triphosphate hydrolases ZNF827 152485 genome.wustl.edu 37 4 146791579 146791579 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178835.3 -1 validated p.P600H 1.000 76 0% 42 38.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZNF827 152485 genome.wustl.edu 37 4 146823797 146823797 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178835.3 -1 validated p.S205N 1.000 45 0% 38 31.6% - - benign(0.005) deleterious(0.01) neutral(0.406) NULL POU4F2 5458 genome.wustl.edu 37 4 147560512 147560512 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004575.2 +1 validated p.S74G 1.000 12 0% 19 52.6% - - benign(0.025) tolerated(0.21) neutral(0.045) NULL POU4F2 5458 genome.wustl.edu 37 4 147561818 147561818 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004575.2 +1 validated p.Y363C 1.000 26 0% 53 30.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like EDNRA 1909 genome.wustl.edu 37 4 148407151 148407151 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001957.3 +1 reviewed p.Y106 1.000 119 0% 100 33% - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like EDNRA 1909 genome.wustl.edu 37 4 148457080 148457080 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001957.3 +1 reviewed p.P267S 1.000 267 0% 102 13.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like TMEM184C 55751 genome.wustl.edu 37 4 148552559 148552559 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018241.2 +1 validated p.L228F 1.000 315 0% 77 35.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF300 NR3C2 4306 genome.wustl.edu 37 4 149002516 149002516 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000901.4 -1 reviewed p.P978 0.879 42 0% 34 35.3% - - - - - superfamily_Str_ncl_receptor NR3C2 4306 genome.wustl.edu 37 4 149356392 149356392 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000901.4 -1 reviewed p.D541N 1.000 152 0% 66 31.8% - - benign(0.175) deleterious(0) neutral(0.461) NULL DCLK2 166614 genome.wustl.edu 37 4 151170822 151170822 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001040260.2 +1 validated p.V687I 1.000 96 0% 164 38.4% - - possibly_damaging(0.729) tolerated(0.09) deleterious(0.562) NULL LRBA 987 genome.wustl.edu 37 4 151765289 151765289 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006726.2 -1 validated p.D1511A 1.000 74 0% 28 28.6% - - possibly_damaging(0.466) deleterious(0) deleterious(0.598) superfamily_ARM repeat LRBA 987 genome.wustl.edu 37 4 151792582 151792582 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006726.2 -1 validated p.G761E 1.000 122 0% 51 9.8% - - possibly_damaging(0.84) tolerated(1) neutral(0.322) superfamily_ARM repeat FBXW7 55294 genome.wustl.edu 37 4 153244092 153244092 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033632.2 -1 reviewed p.R689W 1.000 259 0% 70 27.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320 FBXW7 55294 genome.wustl.edu 37 4 153244185 153244185 + Nonsense_Mutation SNP G G A rs144247898 TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033632.2 -1 reviewed p.R658* 1.000 251 0% 63 38.1% - - - - - HMMSmart_SM00320 TIGD4 201798 genome.wustl.edu 37 4 153692076 153692076 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_145720.2 -1 reviewed p.I27 0.757 209 0% 235 42.6% - - - - - HMMPfam_CENP-B_N,superfamily_Homeodomain-like TRIM2 23321 genome.wustl.edu 37 4 154216741 154216741 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015271.3 +1 validated p.T355A 1.000 38 0% 35 34.3% - - possibly_damaging(0.573) tolerated(0.2) neutral(0.245) HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin TRIM2 23321 genome.wustl.edu 37 4 154236704 154236704 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015271.3 +1 validated p.K526N 1.000 75 0% 36 41.7% - - benign(0.122) tolerated(0.34) neutral(0.033) HMMPfam_NHL,superfamily_NHL repeat KIAA0922 23240 genome.wustl.edu 37 4 154523484 154523484 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015196.3 +1 validated p.S815I 1.000 161 0% 41 31.7% - - probably_damaging(1) tolerated(0.18) deleterious(0.556) NULL DCHS2 54798 genome.wustl.edu 37 4 155156633 155156633 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017639.3 -1 validated p.D2602E 0.001 142 0% 39 33.3% - - benign(0) tolerated(0.93) - NULL DCHS2 54798 genome.wustl.edu 37 4 155219186 155219186 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017639.3 -1 validated p.Q1639K 0.000 76 0% 33 42.4% - - benign(0.001) deleterious(0.04) neutral(0.349) HMMSmart_SM00112,superfamily_Cadherin-like DCHS2 54798 genome.wustl.edu 37 4 155219662 155219662 + Missense_Mutation SNP G G A rs17031394 byCluster;byFrequency;by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017639.3 -1 validated p.T1480I 0.000 132 0% 55 34.5% - - benign(0.31) tolerated(0.29) neutral(0.126) superfamily_Cadherin-like DCHS2 54798 genome.wustl.edu 37 4 155219845 155219845 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017639.3 -1 validated p.E1419G 0.061 61 0% 21 47.6% - - benign(0.008) tolerated(0.59) neutral(0.004) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like DCHS2 54798 genome.wustl.edu 37 4 155253884 155253884 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017639.3 -1 validated p.R660K 1.000 60 0% 78 32.1% - - benign(0.195) tolerated(1) neutral(0.018) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FGA 2243 genome.wustl.edu 37 4 155508783 155508783 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000508.3 -1 reviewed p.S131P 0.996 293 0.3% 120 37.5% - - possibly_damaging(0.63) deleterious(0.01) deleterious(0.626) HMMPfam_Fib_alpha GUCY1A3 2982 genome.wustl.edu 37 4 156632198 156632198 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000856.4 +1 validated p.K294T 1.000 111 0% 27 37% - - benign(0.007) tolerated(0.19) neutral(0.050) HMMPfam_HNOBA GUCY1B3 2983 genome.wustl.edu 37 4 156726310 156726310 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000857.2 +1 validated p.P589S 1.000 174 0% 49 30.6% - - benign(0.045) deleterious(0.04) neutral(0.351) HMMPfam_Guanylate_cyc,superfamily_Adenylyl and guanylyl cyclase catalytic domain CTSO 1519 genome.wustl.edu 37 4 156849523 156849523 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001334.2 -1 reviewed p.G299D 1.000 144 0% 58 12.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_C1,HMMSmart_Pept_C1,superfamily_SSF54001 GLRB 2743 genome.wustl.edu 37 4 158091822 158091822 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000824.4 +1 reviewed p.A479V 1.000 141 0% 53 24.5% - - probably_damaging(0.998) tolerated(0.89) deleterious(0.474) HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore FAM198B 51313 genome.wustl.edu 37 4 159076895 159076895 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001031700.2 -1 validated p.T339 0.998 106 0% 37 45.9% - - - - - NULL FNIP2 57600 genome.wustl.edu 37 4 159772560 159772560 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020840.1 +1 validated p.R272Q 1.000 110 0% 54 70.4% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL FNIP2 57600 genome.wustl.edu 37 4 159789779 159789779 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020840.1 +1 validated p.R664K 0.001 49 0% 59 47.5% - - benign(0) tolerated(0.35) neutral(0.021) NULL FNIP2 57600 genome.wustl.edu 37 4 159825637 159825637 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020840.1 +1 validated p.P1096S 1.000 270 0.7% 81 28.4% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL RAPGEF2 9693 genome.wustl.edu 37 4 160253642 160253642 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014247.2 +1 validated p.R482I 1.000 94 0% 27 29.6% - - benign(0.045) deleterious(0.01) neutral(0.408) superfamily_Ras_GEF RAPGEF2 9693 genome.wustl.edu 37 4 160264241 160264241 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014247.2 +1 validated p.N849S 1.000 255 0% 93 40.9% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_RasGEF,HMMSmart_RasGEF,superfamily_Ras_GEF RAPGEF2 9693 genome.wustl.edu 37 4 160266325 160266325 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014247.2 +1 validated p.R955W 1.000 106 0% 64 37.5% - - probably_damaging(1) deleterious(0.04) deleterious(0.849) superfamily_Ras_GEF LOC100287743 100287743 genome.wustl.edu 37 4 164085513 164085513 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002342475.1 +1 model p.T8M 0.791 193 1% 235 28.9% - - - - - NULL TKTL2 84076 genome.wustl.edu 37 4 164393019 164393019 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032136.4 -1 validated p.T623N 0.385 121 0% 121 34.7% - - possibly_damaging(0.846) deleterious(0.04) deleterious(0.674) superfamily_Transketo_C_like TKTL2 84076 genome.wustl.edu 37 4 164393208 164393208 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032136.4 -1 validated p.V560A 0.832 131 0% 120 42.5% - - possibly_damaging(0.635) deleterious(0.02) deleterious(0.605) HMMPfam_Transketolase_C,superfamily_Transketo_C_like TRIM60 166655 genome.wustl.edu 37 4 165961530 165961530 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152620.2 +1 reviewed p.Q102 0.175 102 0% 153 16.3% - - - - - HMMPfam_zf-B_box,HMMSmart_BBOX,superfamily_SSF57850 MSMO1 6307 genome.wustl.edu 37 4 166261494 166261494 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006745.3 +1 reviewed p.T218I 0.026 367 0% 129 13.2% - - benign(0) tolerated(0.29) neutral(0.029) HMMPfam_FA_hydroxylase TLL1 7092 genome.wustl.edu 37 4 167012313 167012313 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012464.3 +1 reviewed p.E826* 1.000 100 0% 15 33.3% - - - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain SPOCK3 50859 genome.wustl.edu 37 4 167656167 167656167 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016950.2 -1 validated p.D406Y 1.000 470 0% 142 33.8% - - unknown(0) deleterious(0.02) - NULL DDX60 55601 genome.wustl.edu 37 4 169138143 169138143 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017631.5 -1 validated p.V1694F 0.989 218 0% 35 42.9% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL DDX60 55601 genome.wustl.edu 37 4 169176995 169176995 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017631.5 -1 validated p.A1142T 0.000 182 0% 84 26.2% - - benign(0) tolerated(0.46) neutral(0.012) superfamily_P-loop containing nucleoside triphosphate hydrolases DDX60 55601 genome.wustl.edu 37 4 169206050 169206050 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017631.5 -1 validated p.K494N 0.987 124 0% 56 32.1% - - probably_damaging(0.994) deleterious(0.02) deleterious(0.835) NULL AADAT 51166 genome.wustl.edu 37 4 171010824 171010824 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016228.3 -1 reviewed p.F6L 0.966 108 0% 181 42% - - probably_damaging(0.96) deleterious(0.02) deleterious(0.786) superfamily_PLP-dependent transferases GALNTL6 442117 genome.wustl.edu 37 4 172735764 172735764 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001034845.2 +1 validated p.M11I 1.000 187 0% 287 33.8% - - benign(0.03) tolerated(0.44) neutral(0.014) NULL FBXO8 26269 genome.wustl.edu 37 4 175180932 175180932 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012180.2 -1 reviewed p.N125S 1.000 82 0% 19 36.8% - - benign(0.001) tolerated(0.26) neutral(0.034) NULL CEP44 80817 genome.wustl.edu 37 4 175238528 175238528 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001040157.2 +1 validated p.Y389 0.340 38 0% 33 36.4% - - - - - NULL GPM6A 2823 genome.wustl.edu 37 4 176561949 176561949 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005277.3 -1 validated p.I191M 0.893 173 0% 49 32.7% - - benign(0.032) deleterious(0.01) neutral(0.407) HMMPfam_Myelin_PLP,HMMSmart_SM00002 WDR17 116966 genome.wustl.edu 37 4 177036954 177036954 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_170710.4 +1 reviewed p.H68R 1.000 89 0% 34 38.2% - - benign(0.001) tolerated(0.3) neutral(0.029) NULL WDR17 116966 genome.wustl.edu 37 4 177100701 177100701 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_170710.4 +1 reviewed p.G1314W 1.000 191 0% 69 24.6% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ASB5 140458 genome.wustl.edu 37 4 177136772 177136772 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_080874.2 -1 reviewed p.K323N 1.000 232 0% 62 35.5% - - possibly_damaging(0.646) tolerated(0.12) deleterious(0.487) HMMPfam_SOCS_box AGA 175 genome.wustl.edu 37 4 178363474 178363474 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000027.3 -1 reviewed p.A19V 0.001 22 0% 26 30.8% - - benign(0) tolerated(0.59) neutral(0.004) HMMPfam_Asparaginase_2 ODZ3 55714 genome.wustl.edu 37 4 183720958 183720958 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080477.1 +1 provisional p.N2518 1.000 14 0% 24 20.8% - - - - - NULL LOC100128823 100128823 genome.wustl.edu 37 4 184018938 184018938 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_001719637.1 +1 model p.A31 0.000 10 0% 18 33.3% - - - - - NULL WWC2 80014 genome.wustl.edu 37 4 184171119 184171119 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024949.5 +1 validated p.S309N 1.000 153 0% 72 19.4% - - probably_damaging(0.955) tolerated(0.32) neutral(0.423) NULL WWC2 80014 genome.wustl.edu 37 4 184186898 184186898 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024949.5 +1 validated p.T699 0.764 159 0% 53 30.2% - - - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB) CLDN22 53842 genome.wustl.edu 37 4 184240733 184240733 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001111319.1 -1 provisional p.T213 0.197 159 0% 107 23.4% - - - - - NULL ING2 3622 genome.wustl.edu 37 4 184431528 184431528 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001564.2 +1 validated p.A89V 1.000 64 0% 71 40.8% - - possibly_damaging(0.792) deleterious(0) deleterious(0.742) NULL STOX2 56977 genome.wustl.edu 37 4 184931234 184931234 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020225.1 +1 provisional p.E415* 0.999 89 0% 71 46.5% - - - - - NULL STOX2 56977 genome.wustl.edu 37 4 184932016 184932016 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000506529 +1 known p.R31C 0.000 29 0% 35 34.3% - - - - - NULL ENPP6 133121 genome.wustl.edu 37 4 185038053 185038053 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153343.3 -1 validated p.G271W 1.000 81 1.2% 81 46.9% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Phosphodiest,superfamily_Alkaline_phosphatase_core IRF2 3660 genome.wustl.edu 37 4 185309950 185309950 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002199.3 -1 reviewed p.T338A 0.998 75 0% 53 32.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL MLF1IP 79682 genome.wustl.edu 37 4 185650071 185650071 + Splice_Site SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024629.3 -1 validated e3+1 1.000 156 0% 158 41.1% - - - - - - SNX25 83891 genome.wustl.edu 37 4 186283800 186283800 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031953.2 +1 validated p.R793C 1.000 96 0% 46 41.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Nexin_C LRP2BP 55805 genome.wustl.edu 37 4 186299362 186299362 + Splice_Site SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000505916 -1 known e1-1 0.883 168 0% 87 27.6% - - - - - - UFSP2 55325 genome.wustl.edu 37 4 186329436 186329436 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018359.3 -1 validated p.E329* 1.000 198 0% 82 28% - - - - - HMMPfam_Peptidase_C78 CCDC110 256309 genome.wustl.edu 37 4 186379724 186379724 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152775.3 -1 validated p.E673K 0.498 147 0% 82 36.6% - - probably_damaging(0.979) tolerated(0.29) neutral(0.451) NULL SORBS2 8470 genome.wustl.edu 37 4 186598371 186598371 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001145673.1 -1 validated p.V91A 0.000 279 0% 105 40% - - benign(0.099) deleterious(0) neutral(0.452) NULL SORBS2 8470 genome.wustl.edu 37 4 186599611 186599611 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003603.5 -1 reviewed p.R20Q 1.000 204 0% 51 43.1% - - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) NULL F11 2160 genome.wustl.edu 37 4 187201488 187201488 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000128.3 +1 reviewed p.R326H 1.000 166 0% 89 33.7% - - probably_damaging(1) tolerated(0.25) deleterious(0.537) HMMSmart_SM00223,PatternScan_APPLE,HMMPfam_PAN_1 FAT1 2195 genome.wustl.edu 37 4 187518260 187518260 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005245.3 -1 reviewed p.T4145M 1.000 70 0% 61 31.1% - - probably_damaging(1) deleterious(0.04) deleterious(0.849) PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_CA,superfamily_EGF/Laminin FAT1 2195 genome.wustl.edu 37 4 187519219 187519219 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005245.3 -1 reviewed p.P4055L 0.998 28 0% 31 41.9% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00179,HMMSmart_SM00181,superfamily_EGF/Laminin FAT1 2195 genome.wustl.edu 37 4 187539951 187539951 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005245.3 -1 reviewed p.R2597* 0.986 68 0% 44 45.5% - - - - - superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT1 2195 genome.wustl.edu 37 4 187628408 187628408 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005245.3 -1 reviewed p.T858 0.013 132 0% 106 43.4% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like SDHA 6389 genome.wustl.edu 37 5 228373 228373 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004168.2 +1 reviewed p.R232H 1.000 151 0% 208 38% - - probably_damaging(0.97) tolerated(0.08) deleterious(0.712) HMMPfam_FAD_binding_2,superfamily_FAD/NAD(P)-binding domain AHRR 57491 genome.wustl.edu 37 5 432995 432995 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020731.3 +1 reviewed p.A371T 0.005 24 0% 50 44% - - possibly_damaging(0.693) tolerated(0.07) deleterious(0.567) NULL EXOC3 11336 genome.wustl.edu 37 5 453794 453794 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007277.4 +1 reviewed p.R225H 1.000 80 0% 77 26% - - probably_damaging(1) tolerated(0.6) deleterious(0.504) HMMPfam_Sec6 BRD9 65980 genome.wustl.edu 37 5 889761 889761 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000433367 -1 known p.P83L 0.941 175 0% 288 36.1% - - benign(0.001) deleterious(0) neutral(0.445) HMMSmart_BROMO SLC12A7 10723 genome.wustl.edu 37 5 1075520 1075520 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006598.2 -1 validated p.A645T 1.000 33 0% 69 42% - - probably_damaging(0.991) tolerated(0.13) deleterious(0.697) HMMPfam_AA_permease TERT 7015 genome.wustl.edu 37 5 1293684 1293684 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198253.2 -1 reviewed p.E439D 0.000 10 0% 23 34.8% - - benign(0.001) tolerated(0.43) neutral(0.013) NULL TERT 7015 genome.wustl.edu 37 5 1294068 1294068 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198253.2 -1 reviewed p.S311 0.001 17 0% 52 26.9% - - - - - NULL CLPTM1L 81037 genome.wustl.edu 37 5 1339098 1339098 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030782.3 -1 provisional p.P159L 0.201 14 0% 28 39.3% - - benign(0.001) tolerated(0.21) neutral(0.044) HMMPfam_CLPTM1 CLPTM1L 81037 genome.wustl.edu 37 5 1344508 1344508 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030782.3 -1 provisional p.V74A 1.000 75 0% 146 32.9% - - benign(0.003) tolerated(0.1) neutral(0.286) HMMPfam_CLPTM1 SLC6A3 6531 genome.wustl.edu 37 5 1403126 1403126 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001044.4 -1 reviewed p.L560M 0.998 29 0% 82 34.1% - - benign(0.022) tolerated(0.05) neutral(0.346) HMMPfam_SNF IRX4 50805 genome.wustl.edu 37 5 1879764 1879764 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016358.2 -1 validated p.R197H 1.000 101 0% 214 24.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1 IRX1 79192 genome.wustl.edu 37 5 3599609 3599609 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024337.3 +1 validated p.R183W 1.000 98 0% 209 39.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like,PatternScan_HOMEOBOX_1 ADAMTS16 170690 genome.wustl.edu 37 5 5146471 5146471 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_139056.2 +1 reviewed p.S135F 0.001 42 0% 46 26.1% - - possibly_damaging(0.78) tolerated(0.17) neutral(0.350) HMMPfam_Pep_M12B_propep ADAMTS16 170690 genome.wustl.edu 37 5 5191797 5191797 + Splice_Site SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_139056.2 +1 reviewed e8-1 1.000 110 0% 47 14.9% - - - - - - ADAMTS16 170690 genome.wustl.edu 37 5 5242170 5242170 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_139056.2 +1 reviewed p.L843P 1.000 87 0% 56 33.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ADAM_spacer1 ADAMTS16 170690 genome.wustl.edu 37 5 5303416 5303416 + Missense_Mutation SNP C C T rs77172736 byCluster;by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_139056.2 +1 reviewed p.T942M 0.040 17 0% 27 40.7% - - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat KIAA0947 23379 genome.wustl.edu 37 5 5457671 5457671 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015325.1 +1 validated p.V306 0.000 124 0% 83 38.6% - - - - - NULL NSUN2 54888 genome.wustl.edu 37 5 6607020 6607020 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017755.4 -1 validated p.P505L 1.000 103 0% 93 11.8% - - possibly_damaging(0.92) deleterious(0) deleterious(0.816) NULL PAPD7 11044 genome.wustl.edu 37 5 6753123 6753123 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006999.4 +1 reviewed p.P469 0.948 128 0% 170 41.2% - - - - - NULL LOC442132 442132 genome.wustl.edu 37 5 7300725 7300725 + RNA SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XR_040018.2 -1 model NULL 0.002 7 0.000 9 0.556 - - - - - - FASTKD3 79072 genome.wustl.edu 37 5 7867115 7867115 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024091.2 -1 validated p.A361V 0.000 58 0% 117 34.2% - - possibly_damaging(0.532) tolerated(0.16) neutral(0.239) NULL MTRR 4552 genome.wustl.edu 37 5 7897235 7897235 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024010.2 +1 reviewed p.F636 1.000 65 0% 31 38.7% - - - - - HMMPfam_NAD_binding_1,superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain SEMA5A 9037 genome.wustl.edu 37 5 9044582 9044582 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003966.2 -1 reviewed p.A1003V 0.999 240 0% 77 29.9% - - probably_damaging(0.999) tolerated(0.09) deleterious(0.787) NULL SEMA5A 9037 genome.wustl.edu 37 5 9052063 9052063 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003966.2 -1 reviewed p.L923 0.559 43 0% 34 29.4% - - - - - HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1 SEMA5A 9037 genome.wustl.edu 37 5 9066612 9066612 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003966.2 -1 reviewed p.P740 0.001 91 1.1% 46 30.4% - - - - - NULL SEMA5A 9037 genome.wustl.edu 37 5 9119118 9119118 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003966.2 -1 reviewed p.R639 0.994 16 0% 30 36.7% - - - - - HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1 SEMA5A 9037 genome.wustl.edu 37 5 9119137 9119137 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003966.2 -1 reviewed p.V633A 1.000 13 0% 29 17.2% - - probably_damaging(0.99) deleterious(0.05) deleterious(0.787) HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1 CTNND2 1501 genome.wustl.edu 37 5 11117603 11117603 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001332.2 -1 validated p.V746M 1.000 116 0% 66 36.4% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMSmart_SM00185,superfamily_ARM repeat CTNND2 1501 genome.wustl.edu 37 5 11159760 11159760 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001332.2 -1 validated p.S696L 1.000 159 0% 47 38.3% - - benign(0.301) deleterious(0.03) neutral(0.458) HMMSmart_SM00185,superfamily_ARM repeat CTNND2 1501 genome.wustl.edu 37 5 11384922 11384922 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001332.2 -1 validated p.S344 0.998 112 0% 211 34.6% - - - - - NULL DNAH5 1767 genome.wustl.edu 37 5 13766133 13766133 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001369.2 -1 reviewed p.Q3351H 1.000 115 0% 49 36.7% - - possibly_damaging(0.492) tolerated(0.1) neutral(0.451) NULL TRIO 7204 genome.wustl.edu 37 5 14482784 14482784 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007118.2 +1 validated p.R2187C 1.000 101 0% 154 13.6% - - unknown(0) deleterious(0) - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like FAM105A 54491 genome.wustl.edu 37 5 14608932 14608932 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_019018.2 +1 validated p.L235 0.912 116 0% 114 36.8% - - - - - NULL FBXL7 23194 genome.wustl.edu 37 5 15937162 15937162 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012304.3 +1 reviewed p.I448T 1.000 30 0% 35 34.3% - - benign(0) tolerated(0.25) neutral(0.037) HMMSmart_SM00367,superfamily_RNI-like FAM134B 54463 genome.wustl.edu 37 5 16572129 16572129 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001034850.1 -1 reviewed p.D135N 1.000 131 0% 53 39.6% - - possibly_damaging(0.556) tolerated(1) neutral(0.190) NULL MYO10 4651 genome.wustl.edu 37 5 16672857 16672857 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012334.2 -1 validated p.H1750 0.000 158 0% 123 36.6% - - - - - HMMPfam_RA,HMMSmart_B41 PRDM9 56979 genome.wustl.edu 37 5 23522455 23522455 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020227.2 +1 provisional p.R184Q 0.348 196 0% 83 32.5% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_SSXRD PRDM9 56979 genome.wustl.edu 37 5 23523426 23523426 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020227.2 +1 provisional p.E303D 1.000 289 0% 96 32.3% - - benign(0.119) tolerated(0.12) neutral(0.270) HMMSmart_SET,superfamily_SSF82199 PRDM9 56979 genome.wustl.edu 37 5 23523431 23523431 + Missense_Mutation SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020227.2 +1 provisional p.V305E 1.000 278 0% 97 26.8% - - possibly_damaging(0.449) deleterious(0) deleterious(0.592) HMMSmart_SET,superfamily_SSF82199 PRDM9 56979 genome.wustl.edu 37 5 23526439 23526439 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020227.2 +1 provisional p.Q414 0.004 208 0% 85 32.9% - - - - - NULL CDH10 1008 genome.wustl.edu 37 5 24493004 24493004 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006727.2 -1 reviewed p.D516Y 1.000 158 0% 27 14.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin CDH10 1008 genome.wustl.edu 37 5 24509721 24509721 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006727.2 -1 reviewed p.G404S 1.000 195 0% 102 30.4% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Cadherin,superfamily_Cadherin DROSHA 29102 genome.wustl.edu 37 5 31431766 31431766 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013235.4 -1 validated p.F1021C 1.000 157 0% 38 44.7% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Ribonuclease_3,HMMSmart_SM00535,superfamily_RNase III catalytic domain-like (Pfam 00636) C5orf22 55322 genome.wustl.edu 37 5 31541416 31541416 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018356.2 +1 validated p.R300Q 1.000 222 0% 144 41.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PDZD2 23037 genome.wustl.edu 37 5 32088705 32088705 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178140.2 +1 reviewed p.H1717Q 0.000 79 1.3% 118 30.5% - - benign(0.031) tolerated(0.15) neutral(0.242) NULL PDZD2 23037 genome.wustl.edu 37 5 32090978 32090978 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178140.2 +1 reviewed p.S2475L 0.459 39 0% 41 36.6% - - benign(0.195) deleterious(0.03) neutral(0.383) NULL PDZD2 23037 genome.wustl.edu 37 5 32101301 32101301 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178140.2 +1 reviewed p.S2770L 0.496 226 0% 207 34.8% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like ADAMTS12 81792 genome.wustl.edu 37 5 33577169 33577169 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030955.2 -1 reviewed p.R988* 0.996 81 0% 26 30.8% - - - - - HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat ADAMTS12 81792 genome.wustl.edu 37 5 33624384 33624384 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030955.2 -1 reviewed p.S699A 1.000 65 0% 34 41.2% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL SLC45A2 51151 genome.wustl.edu 37 5 33982504 33982504 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016180.3 -1 reviewed p.N133 0.610 98 0% 74 32.4% - - - - - superfamily_MFS general substrate transporter RAI14 26064 genome.wustl.edu 37 5 34823215 34823215 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001145525.1 +1 validated p.S426F 0.012 91 0% 78 47.4% - - possibly_damaging(0.716) tolerated(0.05) deleterious(0.605) NULL RAI14 26064 genome.wustl.edu 37 5 34823799 34823799 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001145525.1 +1 validated p.Q621* 1.000 82 0% 84 35.7% - - - - - NULL RAI14 26064 genome.wustl.edu 37 5 34824006 34824006 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001145525.1 +1 validated p.L690V 0.215 94 0% 91 40.7% - - benign(0) tolerated(0.1) neutral(0.286) NULL TTC23L 153657 genome.wustl.edu 37 5 34850289 34850289 + Splice_Site SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144725.3 +1 validated e3-1 0.995 133 0% 41 34.1% - - - - - - DNAJC21 134218 genome.wustl.edu 37 5 34937551 34937551 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_194283.3 +1 validated p.E187* 1.000 128 0% 116 39.7% - - - - - NULL DNAJC21 134218 genome.wustl.edu 37 5 34945834 34945834 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000303525 +1 known p.Y384H 0.000 104 0% 78 41% - - benign(0.049) tolerated(0.16) neutral(0.062) NULL AGXT2 64902 genome.wustl.edu 37 5 34998865 34998865 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031900.3 -1 reviewed p.R502C 0.953 493 0% 194 32% - - benign(0.051) deleterious(0.01) neutral(0.409) superfamily_PyrdxlP-dep_Trfase_major IL7R 3575 genome.wustl.edu 37 5 35867477 35867477 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002185.2 +1 reviewed p.K97N 0.003 150 0% 28 21.4% - - probably_damaging(0.954) tolerated(0.15) deleterious(0.639) NULL UGT3A1 133688 genome.wustl.edu 37 5 35991194 35991194 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000515801 -1 known p.A50D 0.001 60 0% 48 25% - - unknown(0) - - NULL UGT3A2 167127 genome.wustl.edu 37 5 36049228 36049228 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_174914.3 -1 validated p.K202N 0.993 139 0% 45 40% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_UDPGT,superfamily_SSF53756 UGT3A2 167127 genome.wustl.edu 37 5 36051998 36051998 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_174914.3 -1 validated p.F95L 0.000 94 1.1% 21 38.1% - - benign(0.001) tolerated(0.72) neutral(0.002) HMMPfam_UDPGT,superfamily_SSF53756 LMBRD2 92255 genome.wustl.edu 37 5 36111299 36111299 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001007527.1 -1 validated p.T568A 1.000 112 0% 25 20% - - possibly_damaging(0.817) tolerated(0.39) neutral(0.325) NULL NIPBL 25836 genome.wustl.edu 37 5 36984828 36984828 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_133433.3 +1 reviewed p.G516C 1.000 55 0% 10 40% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_ARM repeat NIPBL 25836 genome.wustl.edu 37 5 37059084 37059084 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_133433.3 +1 reviewed p.R2501Q 1.000 147 0.7% 68 35.3% - - possibly_damaging(0.582) tolerated(0.25) neutral(0.237) NULL C5orf42 65250 genome.wustl.edu 37 5 37184918 37184918 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_023073.3 -1 predicted p.E366* 0.933 130 0% 94 37.2% - - - - - NULL C5orf42 65250 genome.wustl.edu 37 5 37227142 37227144 + In_Frame_Del DEL GTC GTC - novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 GTC GTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000508244 -1 known p.RH518in_frame_delN 0.000:0.000:0.000 - - - - - - - - - NULL EGFLAM 133584 genome.wustl.edu 37 5 38425121 38425121 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152403.2 +1 validated p.T579 1.000 104 0% 38 39.5% - - - - - HMMPfam_EGF,HMMSmart_EGF,superfamily_ConA_like_lec_gl LIFR 3977 genome.wustl.edu 37 5 38482082 38482082 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001127671.1 -1 reviewed p.A970V 0.120 89 0% 64 37.5% - - benign(0.086) deleterious(0.02) neutral(0.390) NULL LIFR 3977 genome.wustl.edu 37 5 38490298 38490298 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001127671.1 -1 reviewed p.E721* 1.000 153 0% 85 40% - - - - - superfamily_Fibronectin type III LIFR 3977 genome.wustl.edu 37 5 38493843 38493843 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001127671.1 -1 reviewed p.L644I 0.022 121 0% 40 35% - - benign(0.086) tolerated(0.48) neutral(0.017) PatternScan_HEMATOPO_REC_L_F2,superfamily_Fibronectin type III LIFR 3977 genome.wustl.edu 37 5 38502883 38502883 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001127671.1 -1 reviewed p.G486* 1.000 106 0% 34 20.6% - - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III LIFR 3977 genome.wustl.edu 37 5 38506623 38506623 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001127671.1 -1 reviewed p.S368N 0.451 88 0% 32 21.9% - - benign(0.003) tolerated(0.79) neutral(0.001) HMMSmart_SM00060,superfamily_Fibronectin type III OSMR 9180 genome.wustl.edu 37 5 38933241 38933241 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003999.2 +1 reviewed p.K879E 0.000 69 0% 40 35% - - benign(0.002) deleterious(0) neutral(0.445) NULL RICTOR 253260 genome.wustl.edu 37 5 38958874 38958874 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152756.3 -1 validated p.F746L 1.000 162 0% 36 36.1% - - probably_damaging(0.972) tolerated(0.67) neutral(0.416) superfamily_ARM repeat FYB 2533 genome.wustl.edu 37 5 39202842 39202842 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001465.3 -1 validated p.P74L 0.175 129 0% 48 14.6% - - possibly_damaging(0.95) deleterious(0.02) deleterious(0.776) NULL LOC100127944 100127944 genome.wustl.edu 37 5 40680446 40680446 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_001717341.2 -1 model p.G421S 0.000 5 0.000 24 0.333 - - - - - NULL PTGER4 5734 genome.wustl.edu 37 5 40681826 40681826 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000958.2 +1 reviewed p.A244V 0.339 6 0.000 6 0.667 - - probably_damaging(0.955) tolerated(0.05) deleterious(0.744) HMMPfam_7tm_1,superfamily_SSF81321 TTC33 23548 genome.wustl.edu 37 5 40730378 40730378 + Missense_Mutation SNP C C T rs144481517 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012382.2 -1 validated p.E97K 1.000 186 0% 89 37.1% - - probably_damaging(1) deleterious(0.04) deleterious(0.849) superfamily_TPR-like C7 730 genome.wustl.edu 37 5 40972687 40972687 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000587.2 +1 reviewed p.V689I 0.820 127 0% 31 32.3% - - benign(0.271) tolerated(0.19) neutral(0.079) superfamily_Complement_control_module C7 730 genome.wustl.edu 37 5 40979868 40979868 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000587.2 +1 reviewed p.R736M 0.245 105 0% 26 38.5% - - possibly_damaging(0.858) deleterious(0) deleterious(0.776) HMMSmart_FIMAC HEATR7B2 133558 genome.wustl.edu 37 5 41000334 41000334 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173489.4 -1 validated p.F1490L 1.000 52 0% 25 32% - - benign(0.001) tolerated(1) - superfamily_ARM repeat HEATR7B2 133558 genome.wustl.edu 37 5 41012727 41012727 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173489.4 -1 validated p.M1031I 0.926 101 0% 25 24% - - benign(0.431) tolerated(0.79) neutral(0.142) superfamily_ARM repeat C6 729 genome.wustl.edu 37 5 41149444 41149444 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000065.2 -1 reviewed p.R841H 0.177 131 0% 36 47.2% - - possibly_damaging(0.768) tolerated(0.26) neutral(0.319) NULL C6 729 genome.wustl.edu 37 5 41181609 41181609 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000065.2 -1 reviewed p.S260Y 0.000 207 0% 43 30.2% - - benign(0.186) deleterious(0.04) neutral(0.366) NULL OXCT1 5019 genome.wustl.edu 37 5 41862818 41862818 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000436.3 -1 reviewed p.R38H 0.006 121 0% 67 40.3% - - benign(0.002) tolerated(0.14) neutral(0.249) NULL FBXO4 26272 genome.wustl.edu 37 5 41929921 41929921 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012176.2 +1 reviewed p.G183E 1.000 388 0% 385 37.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL GHR 2690 genome.wustl.edu 37 5 42695029 42695029 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000163.2 +1 reviewed p.E93* 0.373 234 0.9% 54 38.9% - - - - - superfamily_Fibronectin type III CCDC152 100129792 genome.wustl.edu 37 5 42769761 42769761 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001134848.1 +1 validated p.L86V 1.000 63 0% 22 36.4% - - benign(0.39) deleterious(0) deleterious(0.570) NULL CCDC152 100129792 genome.wustl.edu 37 5 42799836 42799836 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001134848.1 +1 validated p.R240C 0.990 76 0% 29 44.8% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CCL28 56477 genome.wustl.edu 37 5 43388573 43388573 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_148672.2 -1 reviewed p.L24F 1.000 68 0% 57 19.3% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_Interleukin 8-like chemokines NNT 23530 genome.wustl.edu 37 5 43609384 43609384 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012343.3 +1 reviewed p.K29N 0.970 238 0% 247 34.4% - - possibly_damaging(0.615) deleterious(0.01) deleterious(0.619) NULL NNT 23530 genome.wustl.edu 37 5 43700237 43700237 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012343.3 +1 reviewed p.V965I 1.000 207 0% 85 21.2% - - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_PNTB,superfamily_SSF52467 MRPS30 10884 genome.wustl.edu 37 5 44811229 44811229 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016640.3 +1 reviewed p.Q240H 1.000 142 0% 143 37.8% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_PDCD9 HCN1 348980 genome.wustl.edu 37 5 45262330 45262330 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021072.2 -1 validated p.S789L 1.000 110 0% 114 31.6% - - possibly_damaging(0.837) tolerated(0.13) deleterious(0.572) NULL HCN1 348980 genome.wustl.edu 37 5 45262542 45262542 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021072.2 -1 validated p.H718Q 1.000 154 0% 181 30.4% - - benign(0) tolerated(0.78) neutral(0.001) NULL ISL1 3670 genome.wustl.edu 37 5 50683457 50683457 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002202.2 +1 reviewed p.D118N 1.000 28 0% 67 28.4% - - possibly_damaging(0.952) deleterious(0.02) deleterious(0.778) HMMPfam_LIM,HMMSmart_SM00132,superfamily_Glucocorticoid receptor-like (DNA-binding domain) PELO 53918 genome.wustl.edu 37 5 52096874 52096874 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015946.4 +1 reviewed p.Q216* 1.000 34 0% 70 32.9% - - - - - HMMPfam_eRF1_2 ITGA1 3672 genome.wustl.edu 37 5 52227927 52227927 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_181501.1 +1 reviewed p.S941Y 1.000 218 0% 60 33.3% - - possibly_damaging(0.922) tolerated(0.11) deleterious(0.643) HMMPfam_Integrin_alpha2,superfamily_SSF69179 ARL15 54622 genome.wustl.edu 37 5 53467635 53467635 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_019087.2 -1 validated p.D58N 0.998 81 0% 32 43.8% - - possibly_damaging(0.879) tolerated(0.12) deleterious(0.603) HMMPfam_Arf,superfamily_SSF52540 DHX29 54505 genome.wustl.edu 37 5 54581589 54581589 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_019030.2 -1 validated p.K389N 1.000 135 0% 59 40.7% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL SKIV2L2 23517 genome.wustl.edu 37 5 54662635 54662635 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015360.4 +1 validated p.P581H 1.000 112 0% 26 38.5% - - probably_damaging(0.982) deleterious(0) deleterious(0.871) superfamily_SSF52540 SKIV2L2 23517 genome.wustl.edu 37 5 54701358 54701358 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015360.4 +1 validated p.F863V 0.999 182 0% 77 36.4% - - possibly_damaging(0.568) deleterious(0.01) deleterious(0.600) HMMPfam_DSHCT PPAP2A 8611 genome.wustl.edu 37 5 54763886 54763886 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_176895.1 -1 reviewed p.A102V 1.000 138 0% 46 34.8% - - benign(0) tolerated(0.35) neutral(0.021) HMMPfam_PAP2,superfamily_Acid phosphatase/Vanadium-dependent haloperoxidase SLC38A9 153129 genome.wustl.edu 37 5 54929698 54929698 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173514.2 -1 validated p.T438 1.000 106 0% 53 52.8% - - - - - NULL IL31RA 133396 genome.wustl.edu 37 5 55204389 55204389 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000396836 +1 known p.A551T 0.000 15 0% 11 36.4% - - unknown(0) - - NULL IL31RA 133396 genome.wustl.edu 37 5 55210688 55210688 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_139017.4 +1 validated p.L584M 0.061 173 0% 84 41.7% - - probably_damaging(0.998) tolerated(0.23) deleterious(0.516) NULL MAP3K1 4214 genome.wustl.edu 37 5 56181803 56181803 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005921.1 +1 validated p.E1343* 1.000 117 0% 45 37.8% - - - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase PLK2 10769 genome.wustl.edu 37 5 57753977 57753977 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006622.2 -1 validated p.A216V 1.000 107 0% 191 33% - - benign(0.124) tolerated(0.17) neutral(0.069) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase DEPDC1B 55789 genome.wustl.edu 37 5 59940640 59940640 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018369.2 -1 validated p.S214L 0.990 168 0% 59 30.5% - - benign(0.03) deleterious(0.05) neutral(0.347) NULL ZSWIM6 57688 genome.wustl.edu 37 5 60821772 60821772 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020928.1 +1 provisional p.L553 1.000 97 0% 26 15.4% - - - - - NULL KIF2A 3796 genome.wustl.edu 37 5 61811220 61811220 + Missense_Mutation SNP A A T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000509663 +1 known p.D24V 0.995 161 0% 223 10.3% - - - - - NULL IPO11 51194 genome.wustl.edu 37 5 61832566 61832566 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001134779.1 +1 validated p.I749 1.000 134 0% 52 26.9% - - - - - superfamily_ARM repeat HTR1A 3350 genome.wustl.edu 37 5 63257399 63257399 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000524.2 -1 validated p.A50T 1.000 53 0% 58 39.7% - - possibly_damaging(0.825) tolerated(1) neutral(0.312) superfamily_Family A G protein-coupled receptor-like SREK1IP1 285672 genome.wustl.edu 37 5 64020274 64020274 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173829.3 -1 validated p.K135N 1.000 40 0% 24 25% - - unknown(0) tolerated(0.18) - NULL CWC27 10283 genome.wustl.edu 37 5 64077803 64077803 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005869.2 +1 validated p.G65 0.004 152 0.7% 58 24.1% - - - - - HMMPfam_Pro_isomerase,PatternScan_CSA_PPIASE_1,superfamily_Cyclophilin-like ERBB2IP 55914 genome.wustl.edu 37 5 65350613 65350613 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018695.2 +1 reviewed p.T1156N 1.000 60 0% 42 23.8% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL MAST4 375449 genome.wustl.edu 37 5 66405935 66405935 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015183.2 +1 validated p.R267C 1.000 171 0% 64 34.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF1908 MAST4 375449 genome.wustl.edu 37 5 66429370 66429370 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015183.2 +1 validated p.K519Q 1.000 219 0% 56 26.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase MAST4 375449 genome.wustl.edu 37 5 66462006 66462006 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000443808 +1 known p.P1390S 0.977 52 0% 91 38.5% - - - - - NULL CD180 4064 genome.wustl.edu 37 5 66479210 66479210 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005582.2 -1 validated p.T487 0.000 170 0% 83 30.1% - - - - - superfamily_L domain-like PIK3R1 5295 genome.wustl.edu 37 5 67588951 67588951 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_181523.1 +1 reviewed p.R348* 1.000 156 0% 104 38.5% - - - - - HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain PIK3R1 5295 genome.wustl.edu 37 5 67592161 67592161 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_181523.1 +1 reviewed p.C659* 1.000 132 0% 57 33.3% - - - - - HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain SLC30A5 64924 genome.wustl.edu 37 5 68396695 68396695 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022902.2 +1 provisional p.E49K 1.000 171 0% 151 27.2% - - possibly_damaging(0.918) deleterious(0.03) deleterious(0.733) NULL MARVELD2 153562 genome.wustl.edu 37 5 68716267 68716267 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001038603.2 +1 validated p.M352T 1.000 102 0% 97 41.2% - - benign(0) tolerated(0.09) neutral(0.296) HMMPfam_MARVEL BDP1 55814 genome.wustl.edu 37 5 70786951 70786951 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018429.2 +1 reviewed p.S545P 0.008 167 0% 69 39.1% - - benign(0.001) tolerated(0.22) neutral(0.042) NULL BDP1 55814 genome.wustl.edu 37 5 70808182 70808182 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018429.2 +1 reviewed p.E1392* 0.042 82 0% 38 28.9% - - - - - NULL BDP1 55814 genome.wustl.edu 37 5 70855917 70855917 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018429.2 +1 reviewed p.R2450I 0.000 107 0% 66 30.3% - - possibly_damaging(0.852) tolerated(0.28) neutral(0.359) NULL MAP1B 4131 genome.wustl.edu 37 5 71493725 71493725 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005909.3 +1 validated p.E1515* 1.000 115 0% 49 28.6% - - - - - NULL MAP1B 4131 genome.wustl.edu 37 5 71494321 71494321 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005909.3 +1 validated p.Q1713 1.000 98 0% 69 27.5% - - - - - NULL MAP1B 4131 genome.wustl.edu 37 5 71495808 71495808 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005909.3 +1 validated p.S2209N 1.000 64 0% 26 46.2% - - unknown(0) tolerated(0.13) - NULL MRPS27 23107 genome.wustl.edu 37 5 71529972 71529972 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015084.2 -1 reviewed p.S150Y 0.962 91 0% 20 50% - - benign(0) tolerated(0.95) - HMMPfam_MRP-S27 PTCD2 79810 genome.wustl.edu 37 5 71648540 71648540 + Missense_Mutation SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024754.3 +1 validated p.L301I 0.005 172 0% 59 23.7% - - possibly_damaging(0.731) tolerated(0.17) neutral(0.326) NULL ZNF366 167465 genome.wustl.edu 37 5 71752275 71752275 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152625.1 -1 provisional p.A494T 1.000 185 0% 198 36.9% - - benign(0.027) tolerated(0.27) neutral(0.035) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF366 167465 genome.wustl.edu 37 5 71756258 71756258 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152625.1 -1 provisional p.E356K 1.000 63 0% 91 30.8% - - probably_damaging(0.994) tolerated(0.07) deleterious(0.771) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers BTF3 689 genome.wustl.edu 37 5 72800211 72800211 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001037637.1 +1 reviewed p.D186G 1.000 113 0% 131 34.4% - - benign(0.268) tolerated(0.22) neutral(0.071) NULL RGNEF 64283 genome.wustl.edu 37 5 73136553 73136553 + Missense_Mutation SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080479.2 +1 reviewed p.F465L 0.378 123 0% 52 40.4% - - benign(0.002) deleterious(0) neutral(0.445) NULL NSA2 10412 genome.wustl.edu 37 5 74069826 74069826 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014886.3 +1 provisional p.V219A 1.000 117 0% 76 35.5% - - possibly_damaging(0.584) deleterious(0) deleterious(0.645) HMMPfam_Ribosomal_S8e ANKRD31 256006 genome.wustl.edu 37 5 74484359 74484359 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000274361 -1 known p.C508Y 0.021 190 0% 36 33.3% - - benign(0) tolerated(0.58) neutral(0.005) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK POC5 134359 genome.wustl.edu 37 5 74973769 74973769 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001099271.1 -1 validated p.P472S 0.935 193 0% 78 34.6% - - probably_damaging(0.995) tolerated(0.23) deleterious(0.499) NULL SV2C 22987 genome.wustl.edu 37 5 75587674 75587674 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014979.1 +1 provisional p.S444P 1.000 206 0% 63 25.4% - - probably_damaging(0.998) deleterious(0.05) deleterious(0.820) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter IQGAP2 10788 genome.wustl.edu 37 5 75970449 75970449 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006633.2 +1 validated p.A1148T 1.000 75 0% 30 30% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_RasGAP,HMMSmart_SM00323,superfamily_GTPase activation domain GAP IQGAP2 10788 genome.wustl.edu 37 5 75993819 75993819 + Missense_Mutation SNP G G A rs189501812 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006633.2 +1 validated p.R1405Q 1.000 71 0% 21 76.2% - - probably_damaging(1) tolerated(0.1) deleterious(0.786) HMMPfam_RasGAP_C F2RL1 2150 genome.wustl.edu 37 5 76128515 76128515 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005242.4 +1 validated p.G28V 0.800 76 0% 48 41.7% - - benign(0.18) tolerated(0.14) neutral(0.266) NULL CRHBP 1393 genome.wustl.edu 37 5 76264594 76264594 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001882.3 +1 reviewed p.V285I 1.000 127 0% 66 34.8% - - probably_damaging(0.999) tolerated(0.23) deleterious(0.532) HMMPfam_CRF-BP AGGF1 55109 genome.wustl.edu 37 5 76357626 76357626 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018046.3 +1 validated p.P648L 1.000 306 0% 116 37.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_G-patch,HMMSmart_SM00443 OTP 23440 genome.wustl.edu 37 5 76932765 76932765 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032109.2 -1 reviewed p.R110C 1.000 32 0% 104 40.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like AP3B1 8546 genome.wustl.edu 37 5 77477331 77477331 + Silent SNP C C T rs146871001 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003664.3 -1 reviewed p.A314 1.000 145 0.7% 45 33.3% - - - - - HMMPfam_Adaptin_N,superfamily_ARM repeat AP3B1 8546 genome.wustl.edu 37 5 77477472 77477472 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003664.3 -1 reviewed p.E267D 0.725 187 0% 83 32.5% - - benign(0.016) tolerated(0.35) neutral(0.021) HMMPfam_Adaptin_N,superfamily_ARM repeat ARSB 411 genome.wustl.edu 37 5 78260357 78260357 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000046.3 -1 reviewed p.R191Q 1.000 93 0% 33 45.5% - - probably_damaging(1) tolerated(0.29) deleterious(0.529) HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core BHMT2 23743 genome.wustl.edu 37 5 78375194 78375194 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017614.4 +1 reviewed p.R57C 0.998 89 0% 82 26.8% - - probably_damaging(0.974) deleterious(0.01) deleterious(0.822) HMMPfam_S-methyl_trans,superfamily_S_methyl_trans CMYA5 202333 genome.wustl.edu 37 5 79025892 79025892 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153610.3 +1 validated p.S435Y 0.075 75 0% 30 23.3% - - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL CMYA5 202333 genome.wustl.edu 37 5 79026180 79026180 + Missense_Mutation SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153610.3 +1 validated p.I531N 0.972 119 0% 39 35.9% - - possibly_damaging(0.688) deleterious(0.02) deleterious(0.629) NULL CMYA5 202333 genome.wustl.edu 37 5 79026779 79026779 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153610.3 +1 validated p.I731L 0.001 75 0% 41 22% - - possibly_damaging(0.94) deleterious(0.01) deleterious(0.790) NULL CMYA5 202333 genome.wustl.edu 37 5 79029763 79029763 + Silent SNP G G A rs151112453 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153610.3 +1 validated p.S1725 0.006 81 0% 17 35.3% - - - - - NULL CMYA5 202333 genome.wustl.edu 37 5 79032662 79032662 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153610.3 +1 validated p.E2692* 0.086 82 0% 23 52.2% - - - - - NULL THBS4 7060 genome.wustl.edu 37 5 79357621 79357621 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003248.4 +1 reviewed p.G364D 1.000 179 0% 187 32.6% - - benign(0.429) tolerated(0.06) neutral(0.462) HMMSmart_EGF_CA ZFYVE16 9765 genome.wustl.edu 37 5 79768637 79768637 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001105251.1 +1 validated p.R1361Q 1.000 146 0% 56 33.9% - - probably_damaging(0.968) deleterious(0) deleterious(0.855) NULL RASGRF2 5924 genome.wustl.edu 37 5 80388672 80388672 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006909.1 +1 validated p.R481 0.977 116 0% 80 38.8% - - - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like ACOT12 134526 genome.wustl.edu 37 5 80643707 80643707 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_130767.2 -1 validated p.G180D 0.011 88 0% 38 36.8% - - benign(0.001) tolerated(0.61) neutral(0.004) superfamily_Thioesterase/thiol ester dehydrase-isomerase ATG10 83734 genome.wustl.edu 37 5 81474364 81474364 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001131028.1 +1 validated p.K137N 0.081 196 0% 42 31% - - possibly_damaging(0.736) tolerated(0.36) neutral(0.289) HMMPfam_Autophagy_act_C ATP6AP1L 92270 genome.wustl.edu 37 5 81608619 81608619 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001017971.1 +1 provisional p.S107 0.940 125 0% 86 33.7% - - - - - HMMPfam_ATP-synt_S1 XRCC4 7518 genome.wustl.edu 37 5 82649020 82649020 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022406.2 +1 reviewed p.L324 0.976 115 0% 21 42.9% - - - - - HMMPfam_XRCC4 VCAN 1462 genome.wustl.edu 37 5 82817236 82817236 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004385.4 +1 reviewed p.W1037C 0.003 40 0% 25 28% - - benign(0.001) tolerated(0.1) neutral(0.286) NULL VCAN 1462 genome.wustl.edu 37 5 82817638 82817638 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004385.4 +1 reviewed p.E1171D 0.014 94 0% 25 44% - - possibly_damaging(0.589) tolerated(0.05) deleterious(0.548) NULL VCAN 1462 genome.wustl.edu 37 5 82837831 82837831 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004385.4 +1 reviewed p.T3003 0.000 77 0% 18 38.9% - - - - - NULL VCAN 1462 genome.wustl.edu 37 5 82843820 82843820 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004385.4 +1 reviewed p.R3137H 1.000 287 0% 76 10.5% - - probably_damaging(0.989) tolerated(0.16) deleterious(0.499) HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_CA,superfamily_EGF/Laminin VCAN 1462 genome.wustl.edu 37 5 82876228 82876228 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004385.4 +1 reviewed p.R3389Q 1.000 166 0% 43 39.5% - - possibly_damaging(0.951) deleterious(0.01) deleterious(0.800) NULL RASA1 5921 genome.wustl.edu 37 5 86679578 86679578 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002890.1 +1 reviewed p.R913 1.000 166 0% 33 33.3% - - - - - HMMPfam_RasGAP,HMMSmart_SM00323,superfamily_GTPase activation domain GAP CCNH 902 genome.wustl.edu 37 5 86690887 86690887 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001239.2 -1 reviewed p.V303I 0.999 275 0% 96 27.1% - - benign(0.006) tolerated(0.35) neutral(0.021) NULL MEF2C 4208 genome.wustl.edu 37 5 88100596 88100596 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002397.3 -1 validated p.F26C 1.000 176 0% 58 44.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SRF-TF,HMMSmart_SM00432,PatternScan_MADS_BOX_1,superfamily_SRF-like GPR98 84059 genome.wustl.edu 37 5 89949605 89949605 + Missense_Mutation SNP C C A rs41305898 byCluster;by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032119.3 +1 reviewed p.S1405Y 1.000 201 0% 69 33.3% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Concanavalin A-like lectins/glucanases GPR98 84059 genome.wustl.edu 37 5 90072290 90072290 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032119.3 +1 reviewed p.R4142W 0.052 201 0% 41 29.3% - - probably_damaging(0.992) deleterious(0.05) deleterious(0.793) NULL POU5F2 134187 genome.wustl.edu 37 5 93076844 93076844 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153216.1 -1 provisional p.Y142 1.000 137 0% 188 46.3% - - - - - HMMPfam_Pou,HMMSmart_POU,PatternScan_POU_1,superfamily_Lambda_like_DNA KIAA0825 285600 genome.wustl.edu 37 5 93727362 93727362 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001145678.1 -1 validated p.E1112K 1.000 270 0% 68 33.8% - - probably_damaging(0.958) tolerated(0.06) deleterious(0.724) NULL KIAA0825 285600 genome.wustl.edu 37 5 93752802 93752802 + Silent SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000312498 -1 known p.V541 0.000 28 0% 16 37.5% - - - - - NULL KIAA0825 285600 genome.wustl.edu 37 5 93812911 93812911 + Splice_Site SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001145678.1 -1 validated e5-1 1.000 220 0% 128 45.3% - - - - - - LOC100131573 100131573 genome.wustl.edu 37 5 93929200 93929200 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_001716404.1 +1 model p.Y260C 0.374 73 0% 18 27.8% - - - - - NULL MCTP1 79772 genome.wustl.edu 37 5 94204080 94204080 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024717.4 -1 validated p.C798 1.000 86 0% 13 30.8% - - - - - NULL TTC37 9652 genome.wustl.edu 37 5 94826722 94826722 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014639.2 -1 provisional p.A1274V 1.000 86 0% 60 41.7% - - probably_damaging(0.979) deleterious(0) deleterious(0.867) superfamily_Prenyl_trans RHOBTB3 22836 genome.wustl.edu 37 5 95103798 95103798 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014899.3 +1 validated p.W404R 1.000 155 0% 82 37.8% - - benign(0.186) tolerated(0.14) neutral(0.267) superfamily_BTB/POZ_fold ELL2 22936 genome.wustl.edu 37 5 95226865 95226865 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012081.5 -1 validated p.R568I 1.000 251 0% 134 14.9% - - unknown(0) tolerated(0.09) - HMMPfam_Occludin_ELL PCSK1 5122 genome.wustl.edu 37 5 95730722 95730722 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000439.4 -1 reviewed p.R577K 1.000 160 0% 77 32.5% - - benign(0.001) tolerated(0.28) neutral(0.032) HMMPfam_P_proprotein,superfamily_Gal_bind_like CAST 831 genome.wustl.edu 37 5 96073629 96073629 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001750.5 +1 reviewed p.T259M 0.045 149 0% 61 44.3% - - probably_damaging(0.98) tolerated(0.08) deleterious(0.724) HMMPfam_Calpain_inhib ERAP2 64167 genome.wustl.edu 37 5 96232435 96232435 + Splice_Site SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001130140.1 +1 validated e8-1 1.000 65 0% 24 33.3% - - - - - - LNPEP 4012 genome.wustl.edu 37 5 96362355 96362355 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005575.2 +1 reviewed p.R920* 1.000 123 0% 35 22.9% - - - - - NULL RIOK2 55781 genome.wustl.edu 37 5 96503156 96503156 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000508447 -1 known p.S471L 0.000 63 0% 19 42.1% - - unknown(0) - - NULL RIOK2 55781 genome.wustl.edu 37 5 96513496 96513496 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018343.2 -1 validated p.L88F 1.000 124 0% 38 44.7% - - possibly_damaging(0.854) tolerated(0.14) deleterious(0.579) HMMPfam_Rio2_N,superfamily_SSF46785 RGMB 285704 genome.wustl.edu 37 5 98128924 98128924 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001012761.2 +1 validated p.V302M 0.968 53 0% 54 29.6% - - possibly_damaging(0.86) tolerated(0.1) deleterious(0.619) HMMPfam_RGM_C CHD1 1105 genome.wustl.edu 37 5 98209302 98209302 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001270.2 -1 reviewed p.R1189Q 1.000 241 0.4% 88 28.4% - - benign(0.137) tolerated(0.18) neutral(0.068) NULL MAN2A1 4124 genome.wustl.edu 37 5 109117124 109117124 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002372.2 +1 reviewed p.F468V 1.000 132 0% 31 32.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_hydro_38,superfamily_Glyco_hydro/deAcase_b/a-brl MAN2A1 4124 genome.wustl.edu 37 5 109181640 109181640 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002372.2 +1 reviewed p.I925 1.000 226 0% 62 33.9% - - - - - superfamily_Gal_mut_like,HMMPfam_Glyco_hydro_38C CAMK4 814 genome.wustl.edu 37 5 110818512 110818512 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001744.3 +1 reviewed p.K286N 1.000 106 0% 34 32.4% - - possibly_damaging(0.461) tolerated(0.27) neutral(0.184) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase NREP 9315 genome.wustl.edu 37 5 111312431 111312431 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001142475.1 -1 validated p.K2N 0.692 211 0% 112 38.4% - - benign(0.348) - - NULL APC 324 genome.wustl.edu 37 5 112175867 112175867 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000038.4 +1 reviewed p.P1526S 1.000 92 0% 59 44.1% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL APC 324 genome.wustl.edu 37 5 112177203 112177203 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000038.4 +1 reviewed p.S1971Y 1.000 119 0% 64 26.6% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_APC_crr APC 324 genome.wustl.edu 37 5 112178120 112178120 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000038.4 +1 reviewed p.S2277A 0.835 74 0% 32 40.6% - - benign(0) tolerated(1) - HMMPfam_APC_basic APC 324 genome.wustl.edu 37 5 112179396 112179396 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000038.4 +1 reviewed p.A2702V 1.000 65 0% 27 51.9% - - benign(0) deleterious(0.05) neutral(0.345) HMMPfam_EB1_binding ZRSR1 7310 genome.wustl.edu 37 5 112228483 112228483 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000391338 +1 known p.R383W 0.001 71 0% 71 39.4% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL REEP5 7905 genome.wustl.edu 37 5 112256893 112256893 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005669.4 -1 validated p.N60S 1.000 130 0% 188 35.6% - - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_TB2_DP1_HVA22 MCC 4163 genome.wustl.edu 37 5 112403792 112403792 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001085377.1 -1 reviewed p.V672M 0.990 29 0% 37 43.2% - - probably_damaging(0.996) deleterious(0.04) deleterious(0.810) NULL TSSK1B 83942 genome.wustl.edu 37 5 112769636 112769636 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032028.3 -1 validated p.E301K 0.590 52 0% 98 39.8% - - benign(0.002) tolerated(0.18) neutral(0.056) superfamily_Protein kinase-like (PK-like) TSSK1B 83942 genome.wustl.edu 37 5 112769983 112769983 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032028.3 -1 validated p.E185G 0.998 62 0% 63 30.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase YTHDC2 64848 genome.wustl.edu 37 5 112889297 112889297 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022828.3 +1 validated p.L626 1.000 201 0% 72 34.7% - - - - - superfamily_SSF52540 YTHDC2 64848 genome.wustl.edu 37 5 112896882 112896882 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022828.3 +1 validated p.Q774 1.000 127 0% 60 28.3% - - - - - superfamily_SSF52540 YTHDC2 64848 genome.wustl.edu 37 5 112901656 112901656 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022828.3 +1 validated p.A928T 1.000 127 0% 45 40% - - probably_damaging(0.989) deleterious(0.04) deleterious(0.788) NULL KCNN2 3781 genome.wustl.edu 37 5 113698484 113698484 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021614.2 +1 reviewed p.C4 1.000 10 0% 26 42.3% - - - - - NULL TRIM36 55521 genome.wustl.edu 37 5 114469702 114469702 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018700.3 -1 reviewed p.W463* 1.000 187 0% 118 33.9% - - - - - HMMPfam_fn3,superfamily_Fibronectin type III TRIM36 55521 genome.wustl.edu 37 5 114499229 114499229 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018700.3 -1 reviewed p.R95Q 1.000 151 1.3% 140 39.3% - - benign(0.217) tolerated(0.09) neutral(0.318) HMMSmart_SM00184,superfamily_RING/U-box PGGT1B 5229 genome.wustl.edu 37 5 114552662 114552662 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005023.3 -1 validated p.K284N 0.999 113 0% 15 33.3% - - benign(0) tolerated(1) - HMMPfam_Prenyltrans,superfamily_Terpenoid cyclases/Protein prenyltransferases AQPEP 206338 genome.wustl.edu 37 5 115335507 115335507 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173800.4 +1 validated p.H475Y 0.650 95 0% 52 36.5% - - probably_damaging(0.963) deleterious(0.04) deleterious(0.754) "HMMPfam_Peptidase_M1,superfamily_Metalloproteases (""zincins"") catalytic domain" SEMA6A 57556 genome.wustl.edu 37 5 115783475 115783475 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020796.3 -1 validated p.D643N 1.000 30 0% 31 35.5% - - probably_damaging(1) tolerated(1) deleterious(0.500) NULL SEMA6A 57556 genome.wustl.edu 37 5 115813831 115813831 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020796.3 -1 validated p.E483K 1.000 102 0% 59 27.1% - - possibly_damaging(0.752) tolerated(0.08) deleterious(0.576) HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain DMXL1 1657 genome.wustl.edu 37 5 118465068 118465068 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005509.4 +1 validated p.S422F 0.995 69 0% 27 29.6% - - possibly_damaging(0.776) deleterious(0.05) deleterious(0.635) superfamily_WD40 repeat-like DMXL1 1657 genome.wustl.edu 37 5 118532133 118532133 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005509.4 +1 validated p.A2509T 1.000 311 0% 96 27.1% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_WD40 repeat-like DMXL1 1657 genome.wustl.edu 37 5 118582692 118582692 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005509.4 +1 validated p.I2954 0.899 247 0% 72 25% - - - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 HSD17B4 3295 genome.wustl.edu 37 5 118860924 118860924 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000414.2 +1 reviewed p.R506H 1.000 139 0% 73 30.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MaoC_dehydratas,superfamily_SSF54637 PRR16 51334 genome.wustl.edu 37 5 120021795 120021795 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016644.1 +1 provisional p.P79 0.082 140 0% 46 10.9% - - - - - NULL SNX24 28966 genome.wustl.edu 37 5 122335640 122335640 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014035.2 +1 validated p.L95 1.000 194 0% 131 33.6% - - - - - HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain CEP120 153241 genome.wustl.edu 37 5 122720781 122720781 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153223.3 -1 reviewed p.D543Y 1.000 152 0% 33 36.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_C2 domain (Calcium/lipid-binding domain CaLB) ZNF608 57507 genome.wustl.edu 37 5 123980344 123980344 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020747.2 -1 validated p.S1239* 1.000 73 0% 56 37.5% - - - - - NULL MEGF10 84466 genome.wustl.edu 37 5 126791225 126791225 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032446.2 +1 validated p.S1053L 1.000 92 0% 23 26.1% - - possibly_damaging(0.786) deleterious(0) deleterious(0.739) NULL FBN2 2201 genome.wustl.edu 37 5 127615948 127615948 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001999.3 -1 reviewed p.I2358 1.000 192 0% 41 14.6% - - - - - PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin SLC27A6 28965 genome.wustl.edu 37 5 128301957 128301957 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001017372.1 +1 reviewed p.R43W 0.000 160 0.6% 201 39.3% - - benign(0.018) deleterious(0) neutral(0.445) NULL SLC27A6 28965 genome.wustl.edu 37 5 128351708 128351708 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001017372.1 +1 reviewed p.S367N 1.000 254 0% 93 43% - - benign(0) tolerated(1) - HMMPfam_AMP-binding,superfamily_SSF56801 ISOC1 51015 genome.wustl.edu 37 5 128440731 128440731 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016048.2 +1 validated p.K131R 1.000 418 0% 168 32.1% - - benign(0.06) tolerated(0.29) neutral(0.033) HMMPfam_Isochorismatase,superfamily_Iscrsm_hydrolase ADAMTS19 171019 genome.wustl.edu 37 5 129015502 129015502 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_133638.3 +1 reviewed p.I845T 1.000 78 0% 48 16.7% - - probably_damaging(0.99) tolerated(0.1) deleterious(0.728) HMMPfam_ADAM_spacer1 RAPGEF6 51735 genome.wustl.edu 37 5 130766823 130766823 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016340.5 -1 validated p.D1398 1.000 232 0% 131 13% - - - - - NULL RAPGEF6 51735 genome.wustl.edu 37 5 130797438 130797438 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016340.5 -1 validated p.R942* 1.000 122 0% 34 20.6% - - - - - HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF FNIP1 96459 genome.wustl.edu 37 5 130982817 130982817 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000513722 -1 known p.C923* 1.000 281 0% 98 34.7% - - probably_damaging(1) tolerated(0.27) deleterious(0.533) NULL FNIP1 96459 genome.wustl.edu 37 5 131039757 131039757 + Splice_Site SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_133372.2 -1 validated e10+1 1.000 53 0% 11 45.5% - - - - - - P4HA2 8974 genome.wustl.edu 37 5 131539836 131539836 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001142599.1 -1 reviewed p.A364T 1.000 197 0% 148 25.7% - - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMSmart_SM00702 P4HA2 8974 genome.wustl.edu 37 5 131552935 131552935 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001142599.1 -1 reviewed p.D96Y 1.000 72 0% 68 30.9% - - possibly_damaging(0.946) deleterious(0) deleterious(0.835) HMMPfam_P4Ha_N SLC22A4 6583 genome.wustl.edu 37 5 131630410 131630410 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003059.2 +1 reviewed p.F34S 1.000 42 0% 71 39.4% - - probably_damaging(0.988) deleterious(0) deleterious(0.882) superfamily_MFS_gen_substrate_transporter RAD50 10111 genome.wustl.edu 37 5 131953833 131953833 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005732.3 +1 reviewed p.K1079T 0.995 124 0% 45 24.4% - - benign(0.054) tolerated(0.12) neutral(0.264) HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases SHROOM1 134549 genome.wustl.edu 37 5 132159744 132159744 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_133456.2 -1 validated p.W537R 0.935 101 0% 234 33.8% - - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL SHROOM1 134549 genome.wustl.edu 37 5 132161190 132161190 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_133456.2 -1 validated p.A215T 0.001 4 0.000 22 0.318 - - benign(0.03) tolerated(0.92) neutral(0.002) HMMPfam_ASD1 FSTL4 23105 genome.wustl.edu 37 5 132556621 132556621 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000360575 -1 known p.A75V 0.000 44 0% 44 18.2% - - - - - NULL PHF15 23338 genome.wustl.edu 37 5 133873711 133873711 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015288.4 +1 provisional p.S31A 1.000 52 0% 69 36.2% - - benign(0.277) tolerated(0.07) neutral(0.349) NULL SEC24A 10802 genome.wustl.edu 37 5 134029591 134029591 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021982.1 +1 validated p.R652* 1.000 65 0% 55 10.9% - - - - - HMMPfam_Sec23_trunk,superfamily_vWA-like DDX46 9879 genome.wustl.edu 37 5 134130547 134130547 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014829.2 +1 reviewed p.R545H 1.000 218 0% 125 36% - - benign(0.22) tolerated(0.07) neutral(0.341) HMMPfam_DEAD,HMMSmart_DEXDc,superfamily_SSF52540 DDX46 9879 genome.wustl.edu 37 5 134130627 134130627 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014829.2 +1 reviewed p.R572C 1.000 195 0% 131 31.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_DEXDc,superfamily_SSF52540 TRPC7 57113 genome.wustl.edu 37 5 135651366 135651366 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000503275 -1 known p.C294R 0.999 133 0% 63 14.3% - - - - - NULL PKD2L2 27039 genome.wustl.edu 37 5 137235288 137235288 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014386.2 +1 validated p.T203N 0.988 160 0% 89 33.7% - - probably_damaging(1) tolerated(0.12) deleterious(0.760) HMMPfam_PKD_channel KDM3B 51780 genome.wustl.edu 37 5 137726898 137726898 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016604.3 +1 validated p.F526C 1.000 185 0% 119 28.6% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL HSPA9 3313 genome.wustl.edu 37 5 137909756 137909756 + Splice_Site SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004134.6 -1 reviewed e2+1 1.000 86 0% 94 33% - - - - - - CTNNA1 1495 genome.wustl.edu 37 5 138145755 138145755 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001903.2 +1 validated p.E110D 1.000 152 0% 185 43.2% - - benign(0) tolerated(0.41) neutral(0.015) HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin CTNNA1 1495 genome.wustl.edu 37 5 138240084 138240084 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001903.2 +1 validated p.K448T 1.000 182 0% 119 16.8% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin SLC23A1 9963 genome.wustl.edu 37 5 138716259 138716259 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152685.3 -1 reviewed p.R154W 0.017 113 0% 167 38.3% - - possibly_damaging(0.637) deleterious(0.01) deleterious(0.629) HMMPfam_Xan_ur_permease PSD2 84249 genome.wustl.edu 37 5 139193892 139193892 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032289.2 +1 provisional p.R320H 1.000 12 0% 25 20% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Sec7,HMMSmart_SM00222,superfamily_Sec7 domain PSD2 84249 genome.wustl.edu 37 5 139216555 139216555 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032289.2 +1 provisional p.R521 1.000 65 0% 59 33.9% - - - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like SLC4A9 83697 genome.wustl.edu 37 5 139750748 139750748 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031467.2 +1 validated p.Q832 1.000 179 0.6% 158 43% - - - - - HMMPfam_HCO3_cotransp CD14 929 genome.wustl.edu 37 5 140011531 140011531 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000591.3 -1 reviewed p.S346 0.001 29 0% 30 26.7% - - - - - NULL CD14 929 genome.wustl.edu 37 5 140011992 140011992 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000591.3 -1 reviewed p.F193V 0.389 25 0% 39 30.8% - - possibly_damaging(0.501) deleterious(0.01) deleterious(0.573) superfamily_SSF52047 DND1 373863 genome.wustl.edu 37 5 140051267 140051267 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_194249.1 -1 provisional p.R225C 0.920 34 0% 61 45.9% - - benign(0.004) deleterious(0.02) neutral(0.383) NULL ZMAT2 153527 genome.wustl.edu 37 5 140085314 140085314 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144723.1 +1 provisional p.G191 1.000 380 0% 217 32.3% - - - - - NULL PCDHA1 56147 genome.wustl.edu 37 5 140167951 140167951 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018900.2 +1 reviewed p.A692 0.006 30 0% 78 28.2% - - - - - NULL PCDHA2 56146 genome.wustl.edu 37 5 140175815 140175815 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018905.2 +1 reviewed p.E422D 0.000 51 0% 90 33.3% - - benign(0.002) tolerated(0.53) neutral(0.007) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA4 56144 genome.wustl.edu 37 5 140187880 140187880 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018907.2 +1 reviewed p.A370T 0.882 60 0% 122 41% - - benign(0.043) deleterious(0.03) neutral(0.367) HMMPfam_Cadherin,superfamily_Cadherin-like PCDHA4 56144 genome.wustl.edu 37 5 140189117 140189117 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018907.2 +1 reviewed p.R782I 0.019 100 0% 200 24% - - benign(0) tolerated(0.07) neutral(0.319) NULL PCDHA6 56142 genome.wustl.edu 37 5 140209042 140209042 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018909.2 +1 reviewed p.A456T 0.033 45 0% 102 36.3% - - benign(0.006) tolerated(0.45) neutral(0.012) superfamily_Cadherin-like PCDHA7 56141 genome.wustl.edu 37 5 140214382 140214382 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018910.2 +1 reviewed p.R138S 0.000 124 0% 246 28.5% - - benign(0.07) tolerated(0.4) neutral(0.021) HMMPfam_Cadherin,superfamily_Cadherin-like PCDHA7 56141 genome.wustl.edu 37 5 140215216 140215216 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018910.2 +1 reviewed p.E416D 0.798 70 0% 137 33.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA9 9752 genome.wustl.edu 37 5 140228983 140228983 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031857.1 +1 reviewed p.A301 0.001 136 0% 248 18.1% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA12 56137 genome.wustl.edu 37 5 140255773 140255773 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018903.2 +1 reviewed p.G239V 0.009 102 0% 218 41.3% - - benign(0) tolerated(0.2) neutral(0.049) HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like PCDHA13 56136 genome.wustl.edu 37 5 140263349 140263349 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018904.2 +1 reviewed p.V499G 0.091 28 0% 70 12.9% - - possibly_damaging(0.874) tolerated(0.12) deleterious(0.600) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA13 56136 genome.wustl.edu 37 5 140263461 140263461 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018904.2 +1 reviewed p.S536 1.000 34 0% 74 28.4% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHB5 26167 genome.wustl.edu 37 5 140516849 140516849 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015669.2 +1 reviewed p.P611 0.966 21 0% 38 34.2% - - - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB16 57717 genome.wustl.edu 37 5 140563214 140563214 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020957.1 +1 reviewed p.S360 0.081 89 0% 154 31.8% - - - - - HMMPfam_Cadherin,superfamily_Cadherin PCDHB10 56126 genome.wustl.edu 37 5 140572643 140572643 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018930.3 +1 reviewed p.S173I 0.011 98 0% 163 42.3% - - benign(0.262) deleterious(0) deleterious(0.472) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB10 56126 genome.wustl.edu 37 5 140572810 140572810 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018930.3 +1 reviewed p.R229C 0.000 75 0% 147 38.1% - - possibly_damaging(0.924) tolerated(0.13) deleterious(0.625) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB15 56121 genome.wustl.edu 37 5 140626776 140626776 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018935.2 +1 reviewed p.E544K 0.884 46 0% 75 34.7% - - benign(0.262) tolerated(0.13) neutral(0.280) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB15 56121 genome.wustl.edu 37 5 140627173 140627173 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018935.2 +1 reviewed p.A676V 0.001 19 0% 47 51.1% - - benign(0.002) tolerated(1) - NULL TAF7 6879 genome.wustl.edu 37 5 140699209 140699209 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005642.2 -1 reviewed p.G135R 1.000 139 0% 192 37% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TAFII55_N TAF7 6879 genome.wustl.edu 37 5 140699481 140699481 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005642.2 -1 reviewed p.T44I 1.000 222 0% 201 32.3% - - possibly_damaging(0.948) deleterious(0.04) deleterious(0.740) HMMPfam_TAFII55_N PCDHGA1 56114 genome.wustl.edu 37 5 140710550 140710550 + Missense_Mutation SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018912.2 +1 reviewed p.M100K 0.000 68 0% 104 38.5% - - benign(0.003) tolerated(0.45) neutral(0.012) HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDHGA1 56114 genome.wustl.edu 37 5 140712286 140712286 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018912.2 +1 reviewed p.E679K 0.000 73 0% 161 39.8% - - benign(0.001) tolerated(0.51) neutral(0.009) NULL PCDHGA2 56113 genome.wustl.edu 37 5 140718765 140718765 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018915.2 +1 reviewed p.A76V 0.985 55 0% 110 20% - - possibly_damaging(0.803) tolerated(0.11) deleterious(0.574) HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDHGA2 56113 genome.wustl.edu 37 5 140719110 140719110 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018915.2 +1 reviewed p.Y191C 0.983 54 0% 98 11.2% - - probably_damaging(0.973) deleterious(0.01) deleterious(0.821) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA3 56112 genome.wustl.edu 37 5 140725274 140725274 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018916.3 +1 reviewed p.N558 0.000 80 0% 144 34.7% - - - - - HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like PCDHGA3 56112 genome.wustl.edu 37 5 140725425 140725425 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018916.3 +1 reviewed p.L609I 0.999 31 0% 87 36.8% - - benign(0.364) tolerated(0.23) neutral(0.158) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA3 56112 genome.wustl.edu 37 5 140725700 140725700 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018916.3 +1 reviewed p.V700 0.815 100 0% 201 31.8% - - - - - NULL PCDHGB1 56104 genome.wustl.edu 37 5 140730469 140730469 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018922.2 +1 reviewed p.G214 0.068 39 0% 65 40% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGB1 56104 genome.wustl.edu 37 5 140730536 140730536 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018922.2 +1 reviewed p.P237T 1.000 43 0% 101 26.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like PCDHGB2 56103 genome.wustl.edu 37 5 140739726 140739726 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018923.2 +1 reviewed p.C8 0.024 114 0% 210 34.8% - - - - - NULL PCDHGB2 56103 genome.wustl.edu 37 5 140740020 140740020 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018923.2 +1 reviewed p.F106 0.908 38 0% 84 36.9% - - - - - HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDHGB2 56103 genome.wustl.edu 37 5 140740659 140740659 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018923.2 +1 reviewed p.I319 0.797 69 0% 124 31.5% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA5 56110 genome.wustl.edu 37 5 140744848 140744848 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018918.2 +1 reviewed p.M317I 0.969 65 0% 107 34.6% - - benign(0.001) tolerated(1) - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA5 56110 genome.wustl.edu 37 5 140745353 140745353 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018918.2 +1 reviewed p.R486* 0.000 100 0% 171 29.8% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA5 56110 genome.wustl.edu 37 5 140745769 140745769 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018918.2 +1 reviewed p.G624 0.500 32 0% 73 37% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA7 56108 genome.wustl.edu 37 5 140764450 140764450 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018920.2 +1 reviewed p.V662M 0.997 37 0% 90 32.2% - - possibly_damaging(0.611) deleterious(0.02) deleterious(0.595) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA7 56108 genome.wustl.edu 37 5 140764510 140764510 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018920.2 +1 reviewed p.D682N 0.000 54 0% 104 36.5% - - benign(0) tolerated(0.32) neutral(0.024) NULL PCDHGA7 56108 genome.wustl.edu 37 5 140764865 140764865 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018920.2 +1 reviewed p.C800Y 0.000 86 0% 140 40.7% - - benign(0.001) tolerated(1) - NULL PCDHGB5 56101 genome.wustl.edu 37 5 140778504 140778504 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018925.2 +1 reviewed p.D270 0.442 39 0% 71 39.4% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGB5 56101 genome.wustl.edu 37 5 140779434 140779434 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018925.2 +1 reviewed p.P580 0.768 21 0% 43 41.9% - - - - - HMMPfam_Cadherin,superfamily_Cadherin-like PCDHGA9 56107 genome.wustl.edu 37 5 140783551 140783551 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018921.2 +1 reviewed p.R344 0.028 85 0% 185 35.1% - - - - - HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like PCDHGB6 56100 genome.wustl.edu 37 5 140788353 140788353 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018926.2 +1 reviewed p.S195F 0.040 53 0% 90 40% - - benign(0.119) deleterious(0) neutral(0.454) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGB6 56100 genome.wustl.edu 37 5 140789335 140789335 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018926.2 +1 reviewed p.H522 1.000 12 0% 18 33.3% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA10 56106 genome.wustl.edu 37 5 140792762 140792762 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018913.2 +1 reviewed p.R7H 0.000 31 0% 91 34.1% - - benign(0.003) tolerated(0.11) neutral(0.272) NULL PCDHGA10 56106 genome.wustl.edu 37 5 140792848 140792848 + Missense_Mutation SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018913.2 +1 reviewed p.S36T 0.956 45 0% 101 40.6% - - benign(0.01) deleterious(0.02) neutral(0.384) HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDHGA10 56106 genome.wustl.edu 37 5 140793358 140793358 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018913.2 +1 reviewed p.R206C 1.000 26 0% 35 28.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGB7 56099 genome.wustl.edu 37 5 140797666 140797666 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018927.2 +1 reviewed p.Q80H 0.999 254 0% 479 37.6% - - benign(0.006) deleterious(0.05) neutral(0.345) HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDHGB7 56099 genome.wustl.edu 37 5 140798609 140798609 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018927.2 +1 reviewed p.H395N 0.089 89 0% 138 36.2% - - benign(0.003) tolerated(0.35) neutral(0.021) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA12 26025 genome.wustl.edu 37 5 140811076 140811076 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003735.2 +1 reviewed p.S250 0.000 23 0% 58 32.8% - - - - - HMMPfam_Cadherin,superfamily_Cadherin-like PCDHGA12 26025 genome.wustl.edu 37 5 140812186 140812186 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003735.2 +1 reviewed p.G620 0.656 34 0% 74 41.9% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA12 26025 genome.wustl.edu 37 5 140812421 140812421 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003735.2 +1 reviewed p.A699T 0.000 65 0% 146 36.3% - - benign(0.009) tolerated(0.42) neutral(0.015) NULL PCDHGC3 5098 genome.wustl.edu 37 5 140857428 140857428 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002588.2 +1 reviewed p.R582Q 1.000 34 0% 41 46.3% - - possibly_damaging(0.937) deleterious(0.02) deleterious(0.766) superfamily_Cadherin-like PCDHGC4 56098 genome.wustl.edu 37 5 140866625 140866625 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018928.2 +1 reviewed p.R629W 0.751 89 0% 119 10.9% - - possibly_damaging(0.95) deleterious(0.02) deleterious(0.776) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGC5 56097 genome.wustl.edu 37 5 140869858 140869858 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018929.2 +1 reviewed p.L351I 0.003 160 0.6% 258 32.6% - - benign(0.053) tolerated(1) neutral(0.004) superfamily_Cadherin-like DIAPH1 1729 genome.wustl.edu 37 5 140951601 140951601 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005219.4 -1 reviewed p.A789T 0.996 166 0% 110 33.6% - - unknown(0) deleterious(0.01) - HMMSmart_SM00498,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain) ARAP3 64411 genome.wustl.edu 37 5 141044519 141044519 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022481.5 -1 reviewed p.D924Y 1.000 27 0% 46 30.4% - - probably_damaging(1) tolerated(0.2) deleterious(0.549) HMMPfam_RhoGAP,HMMSmart_RhoGAP,superfamily_Rho_GAP ARAP3 64411 genome.wustl.edu 37 5 141051538 141051538 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022481.5 -1 reviewed p.R532Q 1.000 102 0% 164 40.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ArfGap,HMMSmart_ArfGap,superfamily_ArfGAP PCDH12 51294 genome.wustl.edu 37 5 141335709 141335709 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016580.2 -1 reviewed p.L570F 0.648 62 0% 49 36.7% - - probably_damaging(0.996) tolerated(0.39) deleterious(0.478) superfamily_Cadherin NR3C1 2908 genome.wustl.edu 37 5 142779446 142779446 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001024094.1 -1 reviewed p.S320Y 1.000 63 0% 72 36.1% - - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_GCR LARS 51520 genome.wustl.edu 37 5 145509649 145509649 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020117.9 -1 reviewed p.V854I 1.000 109 0% 27 40.7% - - benign(0.016) tolerated(0.62) neutral(0.005) superfamily_Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases,HMMPfam_Anticodon_1 LARS 51520 genome.wustl.edu 37 5 145510625 145510625 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020117.9 -1 reviewed p.M815T 1.000 367 0% 100 10% - - - - - superfamily_Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases,HMMPfam_Anticodon_1 LARS 51520 genome.wustl.edu 37 5 145524035 145524035 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020117.9 -1 reviewed p.T552I 1.000 490 0.2% 246 28.5% - - benign(0.382) tolerated(0.3) neutral(0.150) superfamily_Nucleotidylyl transferase RBM27 54439 genome.wustl.edu 37 5 145641198 145641198 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018989.1 +1 validated p.R673S 0.966 82 0% 102 29.4% - - probably_damaging(0.985) tolerated(0.14) deleterious(0.681) superfamily_SSF54928 POU4F3 5459 genome.wustl.edu 37 5 145719404 145719404 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002700.2 +1 reviewed p.S138 0.997 46 0% 78 37.2% - - - - - NULL POU4F3 5459 genome.wustl.edu 37 5 145719827 145719827 + Silent SNP G G A rs6885298 byCluster;byFrequency;by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002700.2 +1 reviewed p.T279 1.000 39 0% 46 34.8% - - - - - HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like TCERG1 10915 genome.wustl.edu 37 5 145836898 145836898 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006706.3 +1 reviewed p.K146N 1.000 97 0% 110 42.7% - - unknown(0) deleterious(0) - HMMPfam_WW,HMMSmart_SM00456,superfamily_WW domain TCERG1 10915 genome.wustl.edu 37 5 145843284 145843284 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006706.3 +1 reviewed p.I355L 1.000 220 0.5% 162 34% - - benign(0.356) tolerated(0.17) neutral(0.172) NULL PPP2R2B 5521 genome.wustl.edu 37 5 145979960 145979960 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_181676.2 -1 reviewed p.S288L 1.000 211 0% 80 28.7% - - probably_damaging(0.984) deleterious(0.01) deleterious(0.836) HMMSmart_SM00320,superfamily_WD40 repeat-like STK32A 202374 genome.wustl.edu 37 5 146752738 146752738 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001112724.1 +1 validated p.E262K 1.000 151 0% 39 28.2% - - benign(0.124) tolerated(0.68) neutral(0.012) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SPINK5 11005 genome.wustl.edu 37 5 147506616 147506616 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001127698.1 +1 reviewed p.D1010Y 0.002 89 0% 54 27.8% - - benign(0.372) deleterious(0.03) deleterious(0.483) NULL PCYOX1L 78991 genome.wustl.edu 37 5 148748123 148748123 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024028.3 +1 validated p.K464R 1.000 36 2.8% 66 28.8% - - benign(0.41) tolerated(1) neutral(0.133) HMMPfam_Prenylcys_lyase,superfamily_FAD/NAD(P)-binding domain PDE6A 5145 genome.wustl.edu 37 5 149313501 149313501 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000440.2 -1 reviewed p.R237C 0.741 90 0% 79 40.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF55781 SLC26A2 1836 genome.wustl.edu 37 5 149360152 149360152 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000112.3 +1 reviewed p.P332 0.001 175 0% 54 25.9% - - - - - HMMPfam_Sulfate_transp SLC6A7 6534 genome.wustl.edu 37 5 149585040 149585040 + Missense_Mutation SNP G G A rs145845903 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014228.3 +1 validated p.V519I 0.964 48 0% 74 10.8% - - benign(0.001) tolerated(0.68) neutral(0.002) HMMPfam_SNF TCOF1 6949 genome.wustl.edu 37 5 149756004 149756004 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001135243.1 +1 reviewed p.G721S 0.024 82 0% 101 42.6% - - probably_damaging(0.999) tolerated(0.89) deleterious(0.490) HMMPfam_Treacle TCOF1 6949 genome.wustl.edu 37 5 149758595 149758595 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001135243.1 +1 reviewed p.S823F 0.039 56 0% 69 27.5% - - probably_damaging(0.976) deleterious(0.01) deleterious(0.824) HMMPfam_Treacle SYNPO 11346 genome.wustl.edu 37 5 150029010 150029010 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007286.5 +1 validated p.P391 0.485 24 0% 47 21.3% - - - - - NULL ZNF300 91975 genome.wustl.edu 37 5 150275179 150275179 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_052860.2 -1 reviewed p.R541Q 0.999 170 0% 47 27.7% - - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF300 91975 genome.wustl.edu 37 5 150275935 150275935 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_052860.2 -1 reviewed p.R289I 1.000 130 0% 36 41.7% - - probably_damaging(0.983) deleterious(0) deleterious(0.873) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ANXA6 309 genome.wustl.edu 37 5 150512689 150512689 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001155.3 -1 reviewed p.I202 1.000 167 0% 118 28.8% - - - - - superfamily_Annexin,PatternScan_ANNEXIN,HMMPfam_Annexin,HMMSmart_ANX SLC36A3 285641 genome.wustl.edu 37 5 150657052 150657052 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001145017.1 -1 validated p.G480C 1.000 79 0% 31 41.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Aa_trans SLC36A2 153201 genome.wustl.edu 37 5 150722447 150722447 + Splice_Site SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_181776.2 -1 validated e4+2 1.000 168 0% 90 37.8% - - - - - - SLC36A2 153201 genome.wustl.edu 37 5 150722512 150722512 + Missense_Mutation SNP G G A rs148360560 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_181776.2 -1 validated p.T126M 0.685 190 0% 89 34.8% - - possibly_damaging(0.792) deleterious(0.01) deleterious(0.703) HMMPfam_Aa_trans FAT2 2196 genome.wustl.edu 37 5 150945615 150945615 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001447.2 -1 reviewed p.V960L 0.934 31 0% 40 27.5% - - benign(0.01) deleterious(0.02) neutral(0.384) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT2 2196 genome.wustl.edu 37 5 150946865 150946865 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001447.2 -1 reviewed p.R543H 0.999 55 0% 46 34.8% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMSmart_SM00112,superfamily_Cadherin-like SPARC 6678 genome.wustl.edu 37 5 151049283 151049283 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003118.2 -1 provisional p.T131 1.000 118 0% 106 34.9% - - - - - HMMPfam_Kazal_1,HMMSmart_SM00280,superfamily_Kazal-type serine protease inhibitors NMUR2 56923 genome.wustl.edu 37 5 151783987 151783987 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020167.4 -1 reviewed p.T230A 0.821 110 0% 100 33% - - benign(0.002) tolerated(0.18) neutral(0.056) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like GRIA1 2890 genome.wustl.edu 37 5 153085621 153085621 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000827.3 +1 reviewed p.S606Y 1.000 152 0% 50 36% - - benign(0.111) tolerated(0.1) neutral(0.295) HMMPfam_Lig_chan,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II HAND1 9421 genome.wustl.edu 37 5 153857447 153857447 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004821.2 -1 reviewed p.Y41C 1.000 17 0% 31 29% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL LARP1 23367 genome.wustl.edu 37 5 154173213 154173213 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015315.3 +1 validated p.E189 0.996 62 0% 117 39.3% - - - - - NULL C5orf4 10826 genome.wustl.edu 37 5 154214268 154214268 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032385.3 -1 validated p.G54D 1.000 65 0% 60 35% - - possibly_damaging(0.6) tolerated(0.08) deleterious(0.507) NULL GEMIN5 25929 genome.wustl.edu 37 5 154308151 154308151 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015465.3 -1 validated p.R284C 1.000 105 0% 102 33.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_WD40 repeat-like TIMD4 91937 genome.wustl.edu 37 5 156378655 156378655 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138379.2 -1 validated p.L183I 0.000 972 0% 438 40.6% - - probably_damaging(0.979) tolerated(0.43) neutral(0.435) NULL FAM71B 153745 genome.wustl.edu 37 5 156589750 156589750 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_130899.2 -1 validated p.S509L 0.867 309 0% 134 32.8% - - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL CYFIP2 26999 genome.wustl.edu 37 5 156788522 156788522 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001037332.2 +1 validated p.Y985 0.928 84 0% 31 25.8% - - - - - HMMPfam_FragX_IP ADAM19 8728 genome.wustl.edu 37 5 156908807 156908807 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033274.2 -1 reviewed p.A899T 0.001 20 0% 51 47.1% - - benign(0.012) tolerated(0.38) neutral(0.018) NULL CLINT1 9685 genome.wustl.edu 37 5 157244525 157244525 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014666.2 -1 validated p.I24 0.060 96 0% 27 44.4% - - - - - HMMPfam_ENTH,superfamily_ENTH/VHS domain,HMMSmart_SM00273 EBF1 1879 genome.wustl.edu 37 5 158135078 158135078 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024007.3 -1 validated p.A551 0.967 302 0% 140 37.1% - - - - - NULL PWWP2A 114825 genome.wustl.edu 37 5 159519686 159519686 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001130864.1 -1 validated p.D657 1.000 59 1.7% 22 40.9% - - - - - HMMPfam_PWWP,HMMSmart_SM00293,superfamily_Tudor/PWWP/MBT FABP6 2172 genome.wustl.edu 37 5 159626055 159626055 + Splice_Site SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001130958.1 +1 reviewed e1-1 0.000 39 0% 69 30.4% - - - - - - C1QTNF2 114898 genome.wustl.edu 37 5 159776183 159776183 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031908.4 -1 validated p.E329K 1.000 38 0% 47 36.2% - - possibly_damaging(0.875) deleterious(0) deleterious(0.784) NULL C5orf54 63920 genome.wustl.edu 37 5 159821556 159821556 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022090.3 -1 validated p.F314L 0.998 55 0% 27 44.4% - - benign(0.019) tolerated(1) neutral(0.001) NULL C5orf54 63920 genome.wustl.edu 37 5 159822214 159822214 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022090.3 -1 validated p.S95L 0.960 93 0% 57 36.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL C5orf54 63920 genome.wustl.edu 37 5 159822375 159822375 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022090.3 -1 validated p.D41 0.912 93 0% 65 32.3% - - - - - NULL GABRB2 2561 genome.wustl.edu 37 5 160761811 160761811 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021911.2 -1 reviewed p.S260 1.000 268 0% 107 46.7% - - - - - HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM GABRG2 2566 genome.wustl.edu 37 5 161495013 161495013 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198903.2 +1 reviewed p.S3L 1.000 41 0% 29 41.4% - - benign(0.002) deleterious(0.02) neutral(0.383) NULL GABRG2 2566 genome.wustl.edu 37 5 161528321 161528321 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198903.2 +1 reviewed p.S210N 1.000 122 0% 37 29.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like GABRG2 2566 genome.wustl.edu 37 5 161530948 161530948 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198903.2 +1 reviewed p.V269M 1.000 232 0% 42 31% - - possibly_damaging(0.948) deleterious(0) deleterious(0.836) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like ENSG00000229119 0 genome.wustl.edu 37 5 165809576 165809576 + Silent SNP G G A rs188938089 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000449646 +1 known p.S89 0.998 92 0% 72 31.9% - - - - - HMMPfam_Ribosomal_60s ODZ2 57451 genome.wustl.edu 37 5 167551991 167551991 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001122679.1 +1 inferred p.T715 0.001 52 0% 62 35.5% - - - - - HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_EGF_2,superfamily_EGF/Laminin ODZ2 57451 genome.wustl.edu 37 5 167645178 167645178 + Missense_Mutation SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001122679.1 +1 inferred p.S1419T 1.000 87 0% 59 27.1% - - benign(0.185) tolerated(0.22) neutral(0.059) HMMPfam_NHL,superfamily_Concanavalin A-like lectins/glucanases,superfamily_NHL repeat ODZ2 57451 genome.wustl.edu 37 5 167645837 167645837 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001122679.1 +1 inferred p.R1638 1.000 48 0% 32 50% - - - - - superfamily_Concanavalin A-like lectins/glucanases ODZ2 57451 genome.wustl.edu 37 5 167674064 167674064 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001122679.1 +1 inferred p.F2031 0.890 56 0% 50 40% - - - - - superfamily_Concanavalin A-like lectins/glucanases ODZ2 57451 genome.wustl.edu 37 5 167674559 167674559 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001122679.1 +1 inferred p.Y2196 0.654 94 0% 80 31.2% - - - - - HMMPfam_RHS_repeat ODZ2 57451 genome.wustl.edu 37 5 167689425 167689425 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001122679.1 +1 inferred p.S2636 0.998 27 0% 37 40.5% - - - - - NULL WWC1 23286 genome.wustl.edu 37 5 167841447 167841447 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015238.2 +1 reviewed p.E346K 1.000 13 0% 17 41.2% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL RARS 5917 genome.wustl.edu 37 5 167944985 167944985 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002887.3 +1 reviewed p.L597 0.993 90 0% 56 48.2% - - - - - HMMPfam_DALR_1,superfamily_Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases PANK3 79646 genome.wustl.edu 37 5 167995887 167995887 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024594.2 -1 reviewed p.R49W 1.000 153 0% 109 22.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Fumble,superfamily_SSF53067 CCDC99 54908 genome.wustl.edu 37 5 169023625 169023625 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017785.4 +1 validated p.R318W 1.000 104 0% 24 41.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL EFCAB9 285588 genome.wustl.edu 37 5 171627606 171627606 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000398186 +1 known p.R108W 1.000 173 0% 94 36.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF47473 UBTD2 92181 genome.wustl.edu 37 5 171639220 171639220 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152277.2 -1 validated p.E107* 1.000 73 0% 36 25% - - - - - NULL SH3PXD2B 285590 genome.wustl.edu 37 5 171765538 171765538 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001017995.2 -1 validated p.A857 0.844 82 0% 130 15.4% - - - - - HMMSmart_SH3,superfamily_SH3 NKX2-5 1482 genome.wustl.edu 37 5 172661979 172661979 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004387.3 -1 reviewed p.R36 0.998 14 0% 21 38.1% - - - - - NULL CPEB4 80315 genome.wustl.edu 37 5 173317741 173317741 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030627.2 +1 validated p.K335N 1.000 78 0% 66 34.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL C5orf25 375484 genome.wustl.edu 37 5 175764133 175764133 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198567.4 +1 validated p.Y365 0.941 347 0.3% 162 40.7% - - - - - NULL HIGD2A 192286 genome.wustl.edu 37 5 175815937 175815937 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138820.2 +1 provisional p.F39 0.906 81 0% 103 35% - - - - - HMMPfam_HIG_1_N CDHR2 54825 genome.wustl.edu 37 5 176004701 176004701 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017675.4 +1 reviewed p.D472N 0.954 83 0% 125 25.6% - - benign(0.108) tolerated(0.53) neutral(0.016) HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin CDHR2 54825 genome.wustl.edu 37 5 176016617 176016617 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017675.4 +1 reviewed p.A1069V 0.002 38 0% 57 36.8% - - benign(0.117) tolerated(0.07) neutral(0.329) NULL TSPAN17 26262 genome.wustl.edu 37 5 176081911 176081911 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012171.1 +1 validated p.A158T 1.000 36 0% 88 36.4% - - probably_damaging(0.999) tolerated(0.24) deleterious(0.528) superfamily_Tetraspanin,HMMPfam_Tetraspannin TSPAN17 26262 genome.wustl.edu 37 5 176082006 176082006 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000507471 +1 known p.A122V 0.971 34 0% 64 34.4% - - - - - superfamily_Tetraspanin,HMMPfam_Tetraspannin UNC5A 90249 genome.wustl.edu 37 5 176305120 176305120 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_133369.2 +1 validated p.A621T 0.992 22 0% 28 17.9% - - possibly_damaging(0.811) deleterious(0.03) deleterious(0.670) NULL HK3 3101 genome.wustl.edu 37 5 176309059 176309059 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002115.2 -1 reviewed p.R708H 0.134 24 0% 38 39.5% - - benign(0) tolerated(0.23) neutral(0.042) HMMPfam_Hexokinase_2,superfamily_SSF53067 HK3 3101 genome.wustl.edu 37 5 176323125 176323125 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002115.2 -1 reviewed p.G12 0.001 32 0% 33 42.4% - - - - - NULL NSD1 64324 genome.wustl.edu 37 5 176562201 176562201 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022455.4 +1 reviewed p.G33S 1.000 96 0% 159 41.5% - - possibly_damaging(0.916) deleterious(0) deleterious(0.811) NULL NSD1 64324 genome.wustl.edu 37 5 176562924 176562924 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022455.4 +1 reviewed p.I274L 1.000 127 0% 211 13.3% - - benign(0.032) deleterious(0) neutral(0.446) NULL NSD1 64324 genome.wustl.edu 37 5 176636883 176636883 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022455.4 +1 reviewed p.A495T 0.952 86 0% 43 39.5% - - benign(0.129) deleterious(0) neutral(0.456) NULL NSD1 64324 genome.wustl.edu 37 5 176638884 176638884 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022455.4 +1 reviewed p.R1162C 1.000 89 0% 61 37.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL FAM193B 54540 genome.wustl.edu 37 5 176963554 176963554 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_019057.3 -1 validated p.P181H 0.999 43 0% 78 15.4% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL RMND5B 64777 genome.wustl.edu 37 5 177574603 177574603 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022762.3 +1 provisional p.C310 1.000 153 0% 220 39.5% - - - - - NULL NHP2 55651 genome.wustl.edu 37 5 177576741 177576741 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017838.3 -1 reviewed p.E145 0.980 30 0% 50 38% - - - - - superfamily_SSF55315 HNRNPAB 3182 genome.wustl.edu 37 5 177637241 177637241 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031266.2 +1 reviewed p.G299V 1.000 42 0% 63 39.7% - - unknown(0) deleterious(0.01) - NULL COL23A1 91522 genome.wustl.edu 37 5 177669353 177669353 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173465.3 -1 validated p.R495C 0.999 141 0% 273 34.4% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Collagen COL23A1 91522 genome.wustl.edu 37 5 177688728 177688728 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173465.3 -1 validated p.P233S 0.945 43 0% 73 39.7% - - unknown(0) tolerated(0.06) - HMMPfam_Collagen COL23A1 91522 genome.wustl.edu 37 5 177689227 177689227 + Silent SNP G G A rs140937912 TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173465.3 -1 validated p.D222 0.001 76 0% 108 37% - - - - - HMMPfam_Collagen CLK4 57396 genome.wustl.edu 37 5 178045557 178045557 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020666.2 -1 reviewed p.S128 1.000 163 0.6% 95 37.9% - - - - - NULL ZNF354B 117608 genome.wustl.edu 37 5 178310658 178310658 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_058230.2 +1 validated p.R402I 1.000 157 0% 82 26.8% - - probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF354B 117608 genome.wustl.edu 37 5 178310994 178310994 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_058230.2 +1 validated p.R514I 0.967 189 0% 86 32.6% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZFP2 80108 genome.wustl.edu 37 5 178359678 178359678 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030613.2 +1 provisional p.R455Q 0.071 117 0% 71 43.7% - - benign(0.272) tolerated(0.94) neutral(0.029) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF454 285676 genome.wustl.edu 37 5 178391891 178391891 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182594.2 +1 validated p.S162 0.068 104 0% 43 25.6% - - - - - superfamily_C2H2 and C2HC zinc fingers ZNF454 285676 genome.wustl.edu 37 5 178392448 178392448 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182594.2 +1 validated p.R348I 1.000 133 0% 101 37.6% - - probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF454 285676 genome.wustl.edu 37 5 178392905 178392905 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182594.2 +1 validated p.K500 0.014 93 0% 44 27.3% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF879 345462 genome.wustl.edu 37 5 178460178 178460178 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001136116.1 +1 provisional p.S410I 0.634 140 0% 67 47.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ADAMTS2 9509 genome.wustl.edu 37 5 178559847 178559847 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014244.2 -1 reviewed p.V714M 1.000 44 0% 93 38.7% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL ADAMTS2 9509 genome.wustl.edu 37 5 178580625 178580625 + Splice_Site SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014244.2 -1 reviewed e9-1 1.000 17 0% 38 39.5% - - - - - - RUFY1 80230 genome.wustl.edu 37 5 178996309 178996309 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025158.3 +1 validated p.F237L 1.000 381 0% 390 34.9% - - possibly_damaging(0.816) deleterious(0.01) deleterious(0.714) HMMPfam_RUN,HMMSmart_SM00593 C5orf60 285679 genome.wustl.edu 37 5 179069422 179069422 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001142306.1 -1 provisional p.A251V 0.005 208 0% 297 34.7% - - probably_damaging(0.965) - - NULL C5orf60 285679 genome.wustl.edu 37 5 179071901 179071901 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001142306.1 -1 provisional p.V41I 0.002 80 0% 110 38.2% - - benign(0.001) tolerated(0.93) - NULL ENSG00000228259 0 genome.wustl.edu 37 5 179079013 179079013 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000425471 +1 known p.R166W 0.001 91 0% 122 41.8% - - unknown(0) tolerated(0.06) - NULL MGAT4B 11282 genome.wustl.edu 37 5 179225278 179225278 + Splice_Site SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_054013.3 -1 reviewed e13-1 1.000 17 0% 36 19.4% - - - - - - MGAT4B 11282 genome.wustl.edu 37 5 179225365 179225365 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_054013.3 -1 reviewed p.D513N 0.893 16 0% 48 45.8% - - benign(0.145) deleterious(0) neutral(0.457) NULL MGAT4B 11282 genome.wustl.edu 37 5 179228441 179228441 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_054013.3 -1 reviewed p.V166M 1.000 7 0.000 35 0.343 - - unknown(0) - - HMMPfam_Glyco_transf_54 TBC1D9B 23061 genome.wustl.edu 37 5 179320218 179320218 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198868.2 -1 validated p.A276V 0.997 23 0% 26 46.2% - - probably_damaging(1) tolerated(0.89) deleterious(0.500) NULL RASGEF1C 255426 genome.wustl.edu 37 5 179546377 179546377 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_175062.3 -1 validated p.I292 0.605 62 0% 112 34.8% - - - - - HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF GFPT2 9945 genome.wustl.edu 37 5 179743988 179743988 + Silent SNP A A T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005110.2 -1 provisional p.G343 0.990 147 0% 248 10.9% - - - - - superfamily_SSF53697 GFPT2 9945 genome.wustl.edu 37 5 179757718 179757718 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005110.2 -1 provisional p.E172D 1.000 194 0% 268 36.9% - - probably_damaging(0.994) tolerated(0.07) deleterious(0.771) HMMPfam_GATase_2,superfamily_SSF56235 FLT4 2324 genome.wustl.edu 37 5 180043467 180043467 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182925.4 -1 reviewed p.A1040V 1.000 70 0% 167 31.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_TYR,superfamily_Protein kinase-like (PK-like) MGAT1 4245 genome.wustl.edu 37 5 180219193 180219193 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001114617.1 -1 reviewed p.R260H 1.000 7 0.000 16 0.375 - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GNT-I,superfamily_SSF53448 LOC100289003 100289003 genome.wustl.edu 37 5 180219360 180219360 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002342577.1 +1 model p.R467C 0.001 12 0% 21 52.4% - - - - - NULL MGAT1 4245 genome.wustl.edu 37 5 180219586 180219586 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001114617.1 -1 reviewed p.R129Q 0.996 7 0.000 12 0.500 - - probably_damaging(1) tolerated(0.11) deleterious(0.772) HMMPfam_GNT-I,superfamily_SSF53448 BTNL8 79908 genome.wustl.edu 37 5 180335855 180335855 + Missense_Mutation SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001040462.2 +1 validated p.L107M 0.000 116 0% 72 31.9% - - possibly_damaging(0.822) tolerated(0.09) deleterious(0.607) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin OR2V1 26693 genome.wustl.edu 37 5 180551511 180551511 + Missense_Mutation SNP C C T rs142302517 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000329365 -1 known p.R265H 0.001 68 0% 60 35% - - benign(0.001) deleterious(0.03) neutral(0.364) HMMPfam_7tm_1,superfamily_SSF81321 OR2V2 285659 genome.wustl.edu 37 5 180582769 180582769 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_206880.1 +1 provisional p.S276Y 0.275 158 0% 183 19.7% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_7tm_1,superfamily_SSF81321 IRF4 3662 genome.wustl.edu 37 6 394839 394839 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002460.2 +1 validated p.G79* 1.000 52 0% 69 33.3% - - - - - "HMMPfam_IRF,HMMSmart_SM00348,superfamily_""Winged helix"" DNA-binding domain" EXOC2 55770 genome.wustl.edu 37 6 572544 572544 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018303.4 -1 reviewed p.Y473 0.999 112 0% 99 38.4% - - - - - NULL FOXF2 2295 genome.wustl.edu 37 6 1395031 1395031 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001452.1 +1 reviewed p.S424 0.861 191 0% 357 39.8% - - - - - NULL GMDS 2762 genome.wustl.edu 37 6 1742725 1742725 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001500.2 -1 validated p.F289L 0.544 157 0% 115 28.7% - - possibly_damaging(0.914) deleterious(0.01) deleterious(0.772) superfamily_NAD(P)-bd MYLK4 340156 genome.wustl.edu 37 6 2683359 2683359 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001012418.3 -1 validated p.E195K 1.000 131 0% 90 35.6% - - benign(0.379) deleterious(0.03) deleterious(0.485) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase MYLK4 340156 genome.wustl.edu 37 6 2689154 2689154 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001012418.3 -1 validated p.R91H 0.999 140 0% 147 38.8% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Protein kinase-like (PK-like) MYLK4 340156 genome.wustl.edu 37 6 2693021 2693021 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001012418.3 -1 validated p.A78T 0.001 124 0% 144 28.5% - - benign(0) tolerated(0.82) neutral(0.001) superfamily_Protein kinase-like (PK-like) SERPINB1 1992 genome.wustl.edu 37 6 2833852 2833852 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030666.2 -1 provisional p.S377Y 0.033 81 0% 51 41.2% - - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin TUBB2A 7280 genome.wustl.edu 37 6 3155921 3155921 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001069.2 -1 validated p.T72I 1.000 57 0% 115 33.9% - - possibly_damaging(0.952) deleterious(0) deleterious(0.840) HMMPfam_Tubulin,superfamily_Tubulin nucleotide-binding domain-like PXDC1 221749 genome.wustl.edu 37 6 3723871 3723871 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000380277 -1 known p.R174K 1.000 128 0% 199 36.2% - - - - - NULL C6orf201 404220 genome.wustl.edu 37 6 4099417 4099417 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001085401.1 +1 validated p.S90Y 0.992 97 0% 79 12.7% - - probably_damaging(0.965) deleterious(0.02) deleterious(0.790) NULL CDYL 9425 genome.wustl.edu 37 6 4937880 4937880 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004824.3 +1 reviewed p.V344I 1.000 107 0% 87 36.8% - - benign(0.023) tolerated(0.3) neutral(0.030) HMMPfam_ECH,superfamily_SSF52096 RPP40 10799 genome.wustl.edu 37 6 5002383 5002383 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006638.2 -1 validated p.L74F 1.000 196 0% 220 36.4% - - probably_damaging(0.979) deleterious(0.02) deleterious(0.805) HMMPfam_Ribonuc_P_40 RREB1 6239 genome.wustl.edu 37 6 7230637 7230637 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001003699.3 +1 reviewed p.R769C 1.000 11 0% 16 25% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2 CAGE1 285782 genome.wustl.edu 37 6 7373965 7373965 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_205864.2 -1 validated p.E227* 0.377 251 0% 115 41.7% - - - - - NULL DSP 1832 genome.wustl.edu 37 6 7585257 7585257 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004415.2 +1 reviewed p.E2588* 0.922 115 0% 163 39.3% - - - - - superfamily_Plakin repeat DSP 1832 genome.wustl.edu 37 6 7585297 7585297 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004415.2 +1 reviewed p.N2601T 1.000 109 0% 137 42.3% - - benign(0.01) tolerated(1) neutral(0.001) superfamily_Plakin repeat TXNDC5 81567 genome.wustl.edu 37 6 7891942 7891942 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030810.2 -1 reviewed p.P215L 1.000 65 0% 77 46.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Thiordxn-like_fd,HMMPfam_Thioredoxin,PatternScan_THIOREDOXIN_1 MUTED 63915 genome.wustl.edu 37 6 8041462 8041462 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_201280.1 -1 reviewed p.L79 0.622 162 0% 109 28.4% - - - - - NULL MUTED 63915 genome.wustl.edu 37 6 8062775 8062775 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_201280.1 -1 reviewed p.E63* 1.000 63 0% 82 39% - - - - - NULL MAK 4117 genome.wustl.edu 37 6 10796294 10796294 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005906.3 -1 reviewed p.K360N 0.994 192 0% 119 32.8% - - benign(0.007) tolerated(0.4) neutral(0.016) NULL ERVFRD-1 405754 genome.wustl.edu 37 6 11104045 11104045 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_207582.2 -1 validated p.G500D 0.727 102 0% 85 37.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TLV_coat TMEM170B 100113407 genome.wustl.edu 37 6 11575676 11575676 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001100829.1 +1 validated p.A94V 0.998 224 0% 45 37.8% - - probably_damaging(0.957) deleterious(0) deleterious(0.845) HMMPfam_Tmemb_170 HIVEP1 3096 genome.wustl.edu 37 6 12164457 12164457 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002114.2 +1 validated p.S2640 0.000 58 0% 36 33.3% - - - - - NULL EDN1 1906 genome.wustl.edu 37 6 12294262 12294262 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001955.4 +1 reviewed p.R108G 0.817 61 0% 47 14.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00272 LOC100289173 100289173 genome.wustl.edu 37 6 12514847 12514847 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002342615.1 -1 model p.S10L 1.000 34 0% 32 37.5% - - - - - NULL SIRT5 23408 genome.wustl.edu 37 6 13601175 13601175 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012241.3 +1 reviewed p.R284I 0.225 77 0% 71 9.9% - - benign(0.01) tolerated(0.17) neutral(0.059) superfamily_DHS-like NAD/FAD-binding domain JARID2 3720 genome.wustl.edu 37 6 15497183 15497183 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004973.2 +1 reviewed p.S576L 1.000 19 0% 57 35.1% - - benign(0.042) tolerated(0.17) neutral(0.061) HMMPfam_JmjN,HMMSmart_SM00545 DTNBP1 84062 genome.wustl.edu 37 6 15637985 15637985 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032122.3 -1 reviewed p.S71I 0.978 105 0% 55 18.2% - - benign(0.001) tolerated(0.18) neutral(0.056) NULL NUP153 9972 genome.wustl.edu 37 6 17665546 17665546 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005124.2 -1 reviewed p.S380I 0.941 196 0% 94 28.7% - - benign(0.011) deleterious(0.01) neutral(0.406) HMMPfam_Nup153 KIF13A 63971 genome.wustl.edu 37 6 17855718 17855718 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022113.4 -1 validated p.S148 1.000 47 0% 33 33.3% - - - - - HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases RNF144B 255488 genome.wustl.edu 37 6 18465268 18465268 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182757.2 +1 validated p.K294 1.000 215 0% 89 30.3% - - - - - NULL MIR548A1 693125 genome.wustl.edu 37 6 18572072 18572072 + RNA SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000385041 +1 known NULL 0.001 76 0% 18 61.1% - - - - - - E2F3 1871 genome.wustl.edu 37 6 20490430 20490430 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001949.3 +1 reviewed p.D389E 0.956 55 0% 54 48.1% - - benign(0.002) tolerated(1) - NULL PRL 5617 genome.wustl.edu 37 6 22297203 22297203 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000948.4 -1 validated p.I3 0.049 147 0% 111 43.2% - - - - - NULL HIST1H2AA 221613 genome.wustl.edu 37 6 25726746 25726746 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_170745.3 -1 reviewed p.R4* 0.000 559 0% 353 36.3% - - - - - HMMSmart_H2A,superfamily_Histone-fold SLC17A3 10786 genome.wustl.edu 37 6 25845645 25845645 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001098486.1 -1 validated p.E488* 0.999 164 0% 41 39% - - - - - NULL TRIM38 10475 genome.wustl.edu 37 6 25969632 25969632 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006355.2 +1 reviewed p.R164Q 0.021 75 0% 35 28.6% - - benign(0.001) tolerated(0.58) neutral(0.005) NULL HIST1H2AD 3013 genome.wustl.edu 37 6 26199345 26199345 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021065.2 -1 reviewed p.R43* 1.000 71 0% 114 43% - - - - - HMMSmart_H2A,HMMPfam_Histone,superfamily_Histone-fold HIST1H4G 8369 genome.wustl.edu 37 6 26247163 26247163 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003547.2 -1 reviewed p.G15S 1.000 46 0% 33 33.3% - - unknown(0) deleterious(0) - superfamily_Histone-fold BTN3A3 10384 genome.wustl.edu 37 6 26446038 26446038 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006994.4 +1 validated p.S180 0.003 175 0.6% 109 14.7% - - - - - superfamily_SSF48726 BTN2A1 11120 genome.wustl.edu 37 6 26463515 26463515 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007049.2 +1 reviewed p.D158 0.028 48 0% 31 45.2% - - - - - superfamily_Immunoglobulin BTN2A1 11120 genome.wustl.edu 37 6 26468781 26468781 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000265424 +1 known p.S483* 0.002 84 0% 62 32.3% - - - - - HMMSmart_SPRY ZNF322 79692 genome.wustl.edu 37 6 26638434 26638434 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024639.3 -1 validated p.G116 0.997 186 0% 80 23.7% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 HIST1H2AH 85235 genome.wustl.edu 37 6 27114961 27114961 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_080596.1 +1 reviewed p.R18 0.923 61 0% 102 37.3% - - - - - HMMSmart_SM00414,HMMPfam_Histone,superfamily_Histone-fold POM121L2 94026 genome.wustl.edu 37 6 27279812 27279812 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000444565 -1 known p.R46 0.293 34 0% 56 28.6% - - - - - NULL ZNF391 346157 genome.wustl.edu 37 6 27368394 27368394 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001076781.1 +1 validated p.G82E 0.007 93 0% 60 35% - - benign(0.011) tolerated(0.28) neutral(0.032) NULL OR2B2 81697 genome.wustl.edu 37 6 27879581 27879581 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033057.2 -1 validated p.E173* 0.014 91 0% 52 40.4% - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR2B6 26212 genome.wustl.edu 37 6 27925788 27925788 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012367.1 +1 provisional p.S257F 0.620 204 0% 73 34.2% - - benign(0.023) tolerated(0.62) neutral(0.005) HMMPfam_7tm_1,superfamily_SSF81321 ZNF165 7718 genome.wustl.edu 37 6 28056966 28056966 + Silent SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003447.3 +1 reviewed p.R392 0.133 83 0% 91 35.2% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZSCAN16 80345 genome.wustl.edu 37 6 28093382 28093382 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025231.1 +1 provisional p.G54E 0.996 86 0% 47 27.7% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_SCAN,HMMSmart_SCAN ZKSCAN4 387032 genome.wustl.edu 37 6 28213291 28213291 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_019110.3 -1 provisional p.S414N 0.448 159 0% 107 13.1% - - possibly_damaging(0.82) deleterious(0.02) deleterious(0.694) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF187 7741 genome.wustl.edu 37 6 28244231 28244231 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152736.4 +1 validated p.Q131H 0.971 113 0% 96 44.8% - - - - - superfamily_C2H2 and C2HC zinc fingers ZNF323 64288 genome.wustl.edu 37 6 28297173 28297173 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001135215.1 -1 validated p.Q96 0.992 86 0% 44 29.5% - - - - - HMMPfam_SCAN,HMMSmart_SCAN ZNF323 64288 genome.wustl.edu 37 6 28297350 28297350 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001135215.1 -1 validated p.A37 0.001 49 0% 30 33.3% - - - - - HMMPfam_SCAN,HMMSmart_SCAN ZKSCAN3 80317 genome.wustl.edu 37 6 28327762 28327762 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024493.2 +1 validated p.P133 0.942 73 0% 110 30% - - - - - HMMPfam_SCAN,HMMSmart_SCAN ZSCAN12 9753 genome.wustl.edu 37 6 28358885 28358885 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000361028 -1 known p.S394 0.082 119 0.8% 80 33.8% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 GPX6 257202 genome.wustl.edu 37 6 28473506 28473506 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182701.1 -1 reviewed p.E145* 0.994 154 0% 207 28% - - - - - HMMPfam_GSHPx,superfamily_Thioredoxin-like GPX5 2880 genome.wustl.edu 37 6 28499659 28499659 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001509.2 +1 reviewed p.L116F 1.000 77 0% 36 47.2% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_GSHPx,superfamily_Thiordxn-like_fd SCAND3 114821 genome.wustl.edu 37 6 28539912 28539912 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_052923.1 -1 provisional p.K1252Q 1.000 70 0% 24 37.5% - - possibly_damaging(0.793) tolerated(0.3) neutral(0.327) HMMPfam_hATC SCAND3 114821 genome.wustl.edu 37 6 28543439 28543439 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_052923.1 -1 provisional p.L348P 0.996 297 0% 95 29.5% - - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL MAS1L 116511 genome.wustl.edu 37 6 29454929 29454929 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_052967.1 -1 provisional p.L251M 0.001 31 0% 21 38.1% - - probably_damaging(0.989) tolerated(0.22) deleterious(0.481) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like GABBR1 2550 genome.wustl.edu 37 6 29571294 29571294 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000485026 -1 known p.S172I 0.000 8 0.000 11 0.455 - - unknown(0) deleterious(0) - NULL TRIM31 11074 genome.wustl.edu 37 6 30078229 30078229 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007028.3 -1 reviewed p.L247R 0.212 105 0% 120 39.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL DDR1 780 genome.wustl.edu 37 6 30862315 30862315 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013994.2 +1 reviewed p.T460 0.703 48 0% 75 44% - - - - - NULL DPCR1 135656 genome.wustl.edu 37 6 30919940 30919940 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_080870.3 +1 validated p.E75D 0.001 245 0% 251 39% - - possibly_damaging(0.666) deleterious(0) deleterious(0.680) NULL MUC21 394263 genome.wustl.edu 37 6 30954108 30954108 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001010909.2 +1 validated p.V52 0.000 116 0% 120 39.2% - - - - - NULL ATP6V1G2 534 genome.wustl.edu 37 6 31513344 31513344 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_130463.2 -1 reviewed p.Q66H 0.990 30 0% 47 53.2% - - benign(0.242) tolerated(0.46) neutral(0.037) HMMPfam_V-ATPase_G MSH5 4439 genome.wustl.edu 37 6 31712014 31712014 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000463144 +1 known p.R119W 0.656 113 0% 155 36.1% - - - - - NULL MSH5 4439 genome.wustl.edu 37 6 31729606 31729606 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025259.5 +1 reviewed p.T748 0.997 18 0.000 9 0.556 - - - - - HMMPfam_MutS_V,HMMSmart_MUTSac,superfamily_SSF52540 ENSG00000201555 0 genome.wustl.edu 37 6 31746625 31746625 + RNA SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000364685 -1 novel NULL 0.178 5 0.000 12 0.583 - - - - - - TNXB 7148 genome.wustl.edu 37 6 32023743 32023743 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_019105.6 -1 reviewed p.G2784 0.995 14 0% 51 19.6% - - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III ATF6B 1388 genome.wustl.edu 37 6 32088774 32088774 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004381.4 -1 reviewed p.G231D 0.751 83 0% 81 35.8% - - benign(0.167) tolerated(0.12) neutral(0.276) NULL PBX2 5089 genome.wustl.edu 37 6 32155552 32155552 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002586.4 -1 reviewed p.R248C 1.000 13 0% 11 45.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like PSMB8 5696 genome.wustl.edu 37 6 32812187 32812187 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004159.4 -1 reviewed p.L2F 0.276 95 0% 121 38% - - unknown(0) - - NULL TAP1 6890 genome.wustl.edu 37 6 32818159 32818159 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000593.5 -1 reviewed p.E456* 0.841 143 0% 203 36% - - - - - HMMPfam_ABC_membrane,superfamily_ABC_TM_1 LOC100289525 100289525 genome.wustl.edu 37 6 33179677 33179677 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002342641.1 -1 model p.G82S 0.069 45 0% 62 38.7% - - - - - NULL VPS52 6293 genome.wustl.edu 37 6 33219410 33219410 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022553.4 -1 reviewed p.R637Q 1.000 114 0% 93 31.2% - - benign(0.063) deleterious(0.04) neutral(0.353) NULL VPS52 6293 genome.wustl.edu 37 6 33235040 33235040 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022553.4 -1 reviewed p.R350 0.204 113 0% 113 40.7% - - - - - HMMPfam_Vps52 RPS18 6222 genome.wustl.edu 37 6 33240411 33240411 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022551.2 +1 reviewed p.V4M 1.000 76 0% 103 33% - - benign(0.01) tolerated(0.06) neutral(0.323) NULL WDR46 9277 genome.wustl.edu 37 6 33256734 33256734 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005452.5 -1 validated p.P42 0.990 55 0% 86 29.1% - - - - - NULL RGL2 5863 genome.wustl.edu 37 6 33260257 33260257 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004761.3 -1 validated p.S691F 0.335 102 0% 144 30.6% - - benign(0.013) deleterious(0.02) neutral(0.384) HMMPfam_RA,HMMSmart_SM00314,superfamily_Ubiquitin-like DAXX 1616 genome.wustl.edu 37 6 33287875 33287875 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001141970.1 -1 reviewed p.D472Y 0.998 263 0% 330 29.7% - - unknown(0) deleterious(0.04) - HMMPfam_Daxx DAXX 1616 genome.wustl.edu 37 6 33288949 33288949 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001141970.1 -1 reviewed p.E213D 1.000 83 0% 192 38% - - unknown(0) tolerated(0.07) - HMMPfam_Daxx ITPR3 3710 genome.wustl.edu 37 6 33655097 33655097 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002224.2 +1 validated p.A2057V 1.000 19 0% 51 35.3% - - probably_damaging(0.998) tolerated(0.09) deleterious(0.771) NULL ITPR3 3710 genome.wustl.edu 37 6 33662757 33662757 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002224.2 +1 validated p.E2614D 0.842 30 0% 69 30.4% - - benign(0.003) tolerated(0.82) neutral(0.001) NULL IP6K3 117283 genome.wustl.edu 37 6 33693311 33693311 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001142883.1 -1 reviewed p.G224 0.867 50 0% 72 40.3% - - - - - HMMPfam_IPK,superfamily_SAICAR synthase-like MLN 4295 genome.wustl.edu 37 6 33766917 33766917 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002418.2 -1 reviewed p.E67K 0.012 250 0% 338 43.5% - - probably_damaging(0.979) deleterious(0.01) deleterious(0.828) HMMPfam_Motilin_assoc GRM4 2914 genome.wustl.edu 37 6 34100963 34100963 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000841.1 -1 reviewed p.R104H 1.000 35 0% 56 41.1% - - possibly_damaging(0.618) tolerated(1) neutral(0.215) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I C6orf106 64771 genome.wustl.edu 37 6 34614409 34614409 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024294.2 -1 validated p.R160 0.998 77 0% 45 35.6% - - - - - NULL TEAD3 7005 genome.wustl.edu 37 6 35444153 35444153 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000402886 -1 known p.R158C 1.000 27 0% 59 40.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TEA ARMC12 221481 genome.wustl.edu 37 6 35716407 35716407 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_145028.3 +1 predicted p.G288 0.986 64 0% 49 36.7% - - - - - HMMPfam_DUF634,superfamily_ARM-type_fold LHFPL5 222662 genome.wustl.edu 37 6 35782502 35782502 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182548.3 +1 reviewed p.V198M 0.979 47 0% 41 48.8% - - possibly_damaging(0.843) tolerated(0.15) deleterious(0.564) HMMPfam_L_HGMIC_fpl SRPK1 6732 genome.wustl.edu 37 6 35803116 35803116 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003137.3 -1 reviewed p.A645T 0.885 108 0% 48 45.8% - - benign(0.031) tolerated(0.15) neutral(0.242) HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SRPK1 6732 genome.wustl.edu 37 6 35840345 35840345 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003137.3 -1 reviewed p.S249Y 1.000 52 0% 54 18.5% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase MAPK13 5603 genome.wustl.edu 37 6 36107128 36107128 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002754.3 +1 reviewed p.R359H 0.999 44 0% 55 40% - - possibly_damaging(0.934) deleterious(0.03) deleterious(0.744) NULL BRPF3 27154 genome.wustl.edu 37 6 36168113 36168113 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015695.2 +1 validated p.R5H 1.000 36 0% 58 44.8% - - probably_damaging(0.995) tolerated(0.06) deleterious(0.780) NULL STK38 11329 genome.wustl.edu 37 6 36465557 36465557 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007271.2 -1 provisional p.R391K 1.000 59 0% 31 35.5% - - probably_damaging(0.974) tolerated(0.08) deleterious(0.716) HMMSmart_SM00133,superfamily_Protein kinase-like (PK-like) FGD2 221472 genome.wustl.edu 37 6 36976841 36976841 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173558.3 +1 validated p.Q100H 1.000 15 0% 31 41.9% - - probably_damaging(0.981) deleterious(0) deleterious(0.870) superfamily_DBL homology domain (DH-domain) FGD2 221472 genome.wustl.edu 37 6 36978772 36978772 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173558.3 +1 validated p.Q108H 0.940 40 0% 62 32.3% - - benign(0.025) tolerated(0.19) neutral(0.051) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) FGD2 221472 genome.wustl.edu 37 6 36982430 36982430 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173558.3 +1 validated p.D278N 1.000 65 0% 90 30% - - benign(0) deleterious(0.05) neutral(0.345) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) FGD2 221472 genome.wustl.edu 37 6 36990098 36990098 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000394459 +1 known p.L96I 1.000 31 0% 36 22.2% - - - - - NULL TBC1D22B 55633 genome.wustl.edu 37 6 37250723 37250723 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017772.2 +1 validated p.L223M 1.000 130 0% 73 13.7% - - probably_damaging(0.985) deleterious(0) deleterious(0.877) HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p RNF8 9025 genome.wustl.edu 37 6 37336828 37336828 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003958.3 +1 reviewed p.V270A 1.000 108 0% 56 25% - - possibly_damaging(0.942) tolerated(0.47) neutral(0.398) NULL RNF8 9025 genome.wustl.edu 37 6 37339323 37339323 + Missense_Mutation SNP G G T rs112020220 TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003958.3 +1 reviewed p.K337N 1.000 120 0% 64 34.4% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL CCDC167 154467 genome.wustl.edu 37 6 37452949 37452949 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138493.2 -1 validated p.L22 1.000 24 0% 60 33.3% - - - - - NULL DNAH8 1769 genome.wustl.edu 37 6 38820569 38820569 + Missense_Mutation SNP A A T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001371.2 +1 validated p.I1639F 1.000 66 0% 32 37.5% - - probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_DHC_N2 DNAH8 1769 genome.wustl.edu 37 6 38841028 38841028 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001371.2 +1 validated p.R2282H 0.997 109 0% 36 25% - - possibly_damaging(0.837) tolerated(0.05) deleterious(0.665) NULL DNAH8 1769 genome.wustl.edu 37 6 38891867 38891867 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001371.2 +1 validated p.E3414K 1.000 300 0% 78 33.3% - - benign(0.108) tolerated(0.32) neutral(0.033) NULL DNAH8 1769 genome.wustl.edu 37 6 38950237 38950237 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001371.2 +1 validated p.K4100T 1.000 200 0% 57 35.1% - - possibly_damaging(0.897) deleterious(0.01) deleterious(0.760) HMMPfam_Dynein_heavy DAAM2 23500 genome.wustl.edu 37 6 39867899 39867899 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015345.2 +1 validated p.F908C 1.000 51 0% 52 28.8% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00498,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain) UNC5CL 222643 genome.wustl.edu 37 6 41001894 41001894 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173561.1 -1 provisional p.R138W 1.000 6 0.000 20 0.250 - - probably_damaging(0.959) deleterious(0.01) deleterious(0.808) HMMPfam_ZU5 NFYA 4800 genome.wustl.edu 37 6 41062196 41062196 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002505.4 +1 reviewed p.R317Q 1.000 128 0% 94 37.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CBFB_NFYA,HMMSmart_SM00521 FRS3 10817 genome.wustl.edu 37 6 41738369 41738369 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006653.3 -1 reviewed p.D489 1.000 113 0% 237 13.1% - - - - - NULL FRS3 10817 genome.wustl.edu 37 6 41738447 41738447 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006653.3 -1 reviewed p.T463 0.191 72 0% 158 38.6% - - - - - NULL CCND3 896 genome.wustl.edu 37 6 41908179 41908179 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001760.3 -1 reviewed p.E115K 1.000 60 0% 88 44.3% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_CYCLIN,HMMPfam_Cyclin_N,superfamily_Cyclin_like GUCA1A 2978 genome.wustl.edu 37 6 42147004 42147004 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000409.3 +1 reviewed p.I157V 1.000 29 0% 48 47.9% - - benign(0) tolerated(0.22) neutral(0.042) HMMSmart_SM00054,HMMPfam_efhand,superfamily_EF-hand TRERF1 55809 genome.wustl.edu 37 6 42224720 42224720 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033502.2 -1 reviewed p.N819K 1.000 262 0.4% 334 29.9% - - benign(0.023) tolerated(0.07) neutral(0.320) HMMPfam_ELM2 UBR2 23304 genome.wustl.edu 37 6 42600364 42600364 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015255.2 +1 reviewed p.R452 1.000 105 0% 69 13% - - - - - NULL UBR2 23304 genome.wustl.edu 37 6 42656092 42656092 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015255.2 +1 reviewed p.Y1664 1.000 120 0% 178 31.5% - - - - - NULL CNPY3 10695 genome.wustl.edu 37 6 42902334 42902334 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006586.3 +1 validated p.K91 1.000 77 0% 79 36.7% - - - - - NULL GNMT 27232 genome.wustl.edu 37 6 42930557 42930557 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018960.4 +1 reviewed p.G131D 0.608 123 0% 206 28.2% - - benign(0) tolerated(0.5) neutral(0.010) HMMPfam_Methyltransf_12,superfamily_SSF53335 PPP2R5D 5528 genome.wustl.edu 37 6 42974777 42974777 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006245.2 +1 reviewed p.E151K 1.000 88 1.1% 134 36.6% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_B56 KLHDC3 116138 genome.wustl.edu 37 6 42988454 42988454 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_057161.2 +1 reviewed p.V378I 0.993 114 0% 196 13.3% - - benign(0.001) tolerated(0.12) neutral(0.261) NULL CUL7 9820 genome.wustl.edu 37 6 43013126 43013126 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014780.4 -1 reviewed p.T959 0.008 160 0% 239 31.8% - - - - - HMMPfam_APC10,superfamily_Gal_bind_like KLC4 89953 genome.wustl.edu 37 6 43030856 43030856 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_201523.1 +1 validated p.R172W 1.000 66 0% 114 16.7% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Rab5-bind,superfamily_TPR-like PTK7 5754 genome.wustl.edu 37 6 43106921 43106921 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002821.3 +1 reviewed p.S470 0.727 64 0% 79 29.1% - - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin CUL9 23113 genome.wustl.edu 37 6 43164484 43164484 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015089.2 +1 validated p.T896M 1.000 178 0% 138 37% - - probably_damaging(0.989) deleterious(0.01) deleterious(0.845) superfamily_ARM repeat CUL9 23113 genome.wustl.edu 37 6 43168473 43168473 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015089.2 +1 validated p.S1183I 1.000 113 0% 120 40% - - probably_damaging(0.974) deleterious(0) deleterious(0.861) HMMPfam_APC10,superfamily_Galactose-binding domain-like CUL9 23113 genome.wustl.edu 37 6 43182914 43182914 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015089.2 +1 validated p.C1929Y 1.000 28 0% 41 29.3% - - possibly_damaging(0.887) deleterious(0) deleterious(0.791) "PatternScan_CULLIN_1,superfamily_""Winged helix"" DNA-binding domain" TTBK1 84630 genome.wustl.edu 37 6 43220488 43220488 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032538.1 +1 validated p.I40 1.000 43 0% 110 43.6% - - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase ZNF318 24149 genome.wustl.edu 37 6 43310566 43310566 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014345.2 -1 validated p.E1042K 0.479 206 0% 62 40.3% - - possibly_damaging(0.895) deleterious(0.02) deleterious(0.736) NULL ABCC10 89845 genome.wustl.edu 37 6 43406489 43406489 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033450.2 +1 reviewed p.Y667H 1.000 104 0% 132 22.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ABC_tran,HMMSmart_AAA,superfamily_SSF52540 ABCC10 89845 genome.wustl.edu 37 6 43417201 43417201 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033450.2 +1 reviewed p.K1387N 1.000 32 0% 69 43.5% - - benign(0.068) tolerated(0.06) neutral(0.327) HMMPfam_ABC_tran,HMMSmart_AAA,superfamily_SSF52540 TJAP1 93643 genome.wustl.edu 37 6 43473433 43473433 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_080604.2 +1 reviewed p.G495D 0.092 8 0.000 24 0.292 - - benign(0) tolerated(0.5) neutral(0.010) NULL XPO5 57510 genome.wustl.edu 37 6 43492231 43492231 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020750.2 -1 validated p.R1152H 1.000 113 0% 123 36.6% - - probably_damaging(0.988) deleterious(0) deleterious(0.882) NULL XPO5 57510 genome.wustl.edu 37 6 43533424 43533424 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020750.2 -1 validated p.A295V 1.000 68 0% 54 46.3% - - benign(0.008) tolerated(0.76) neutral(0.001) superfamily_ARM repeat MRPS18A 55168 genome.wustl.edu 37 6 43643270 43643270 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018135.2 -1 reviewed p.R113C 1.000 118 0% 139 38.1% - - probably_damaging(0.984) deleterious(0) deleterious(0.875) HMMPfam_Ribosomal_S18,superfamily_Ribosomal_S18 SLC29A1 2030 genome.wustl.edu 37 6 44200635 44200635 + Missense_Mutation SNP G G A rs189979040 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001078174.1 +1 reviewed p.R384H 0.000 48 0% 94 36.2% - - benign(0.001) tolerated(0.17) neutral(0.059) HMMPfam_Nucleoside_tran HSP90AB1 3326 genome.wustl.edu 37 6 44217241 44217241 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007355.2 +1 provisional p.G92D 1.000 125 0% 203 36% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HATPase_c,HMMSmart_SM00387,superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase HSP90AB1 3326 genome.wustl.edu 37 6 44219833 44219833 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007355.2 +1 provisional p.Y520 1.000 147 0% 216 39.4% - - - - - superfamily_Ribosomal protein S5 domain 2-like,HMMPfam_HSP90 SLC35B2 347734 genome.wustl.edu 37 6 44224511 44224511 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178148.2 -1 validated p.F39S 0.998 57 0% 117 23.1% - - probably_damaging(0.974) deleterious(0.01) deleterious(0.822) NULL CDC5L 988 genome.wustl.edu 37 6 44414399 44414399 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001253.2 +1 reviewed p.R787K 1.000 128 0.8% 48 22.9% - - benign(0.128) tolerated(0.26) neutral(0.045) NULL RUNX2 860 genome.wustl.edu 37 6 45399649 45399649 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001024630.3 +1 reviewed p.A226V 1.000 199 0% 105 51.4% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_P53_like_DNA_bnd,HMMPfam_Runt RUNX2 860 genome.wustl.edu 37 6 45399744 45399744 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001024630.3 +1 reviewed p.R258W 1.000 164 0% 97 27.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P53_like_DNA_bnd,HMMPfam_Runt RUNX2 860 genome.wustl.edu 37 6 45480144 45480144 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001024630.3 +1 reviewed p.D409Y 1.000 72 0% 36 25% - - probably_damaging(0.981) deleterious(0.04) deleterious(0.774) NULL TDRD6 221400 genome.wustl.edu 37 6 46659150 46659150 + Silent SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001010870.2 +1 validated p.A1095 0.110 199 0% 198 36.9% - - - - - HMMPfam_TUDOR MEP1A 4224 genome.wustl.edu 37 6 46801039 46801039 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005588.2 +1 validated p.R458Q 0.358 66 0% 34 32.4% - - probably_damaging(0.998) tolerated(0.15) deleterious(0.716) HMMPfam_MATH,HMMSmart_MATH,superfamily_Traf_like MEP1A 4224 genome.wustl.edu 37 6 46806754 46806754 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005588.2 +1 validated p.R708C 0.991 41 0% 34 44.1% - - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_EGF,HMMSmart_EGF,superfamily_SSF57196 GPR116 221395 genome.wustl.edu 37 6 46826134 46826134 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001098518.1 -1 validated p.T1169N 1.000 46 0% 33 36.4% - - probably_damaging(0.965) deleterious(0.01) deleterious(0.812) HMMPfam_7tm_2 GPR116 221395 genome.wustl.edu 37 6 46836826 46836826 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001098518.1 -1 validated p.N472T 0.980 163 1.2% 51 51% - - possibly_damaging(0.521) tolerated(0.08) deleterious(0.475) superfamily_Immunoglobulin CD2AP 23607 genome.wustl.edu 37 6 47544328 47544328 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012120.2 +1 reviewed p.G266 0.717 144 0% 47 31.9% - - - - - superfamily_SH3 GPR115 221393 genome.wustl.edu 37 6 47682576 47682576 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153838.3 +1 validated p.T532I 0.960 166 0% 69 43.5% - - benign(0.002) tolerated(1) - HMMPfam_7tm_2 GPR115 221393 genome.wustl.edu 37 6 47682913 47682913 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153838.3 +1 validated p.Q644 1.000 25 0% 15 46.7% - - - - - HMMPfam_7tm_2 MUT 4594 genome.wustl.edu 37 6 49403270 49403270 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000255.3 -1 reviewed p.A675T 1.000 68 0% 24 33.3% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_B12-binding,superfamily_Cobalamin (vitamin B12)-binding domain C6orf141 135398 genome.wustl.edu 37 6 49518522 49518522 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001145652.1 +1 validated p.A6V 0.002 19 0% 26 42.3% - - possibly_damaging(0.515) - - NULL PGK2 5232 genome.wustl.edu 37 6 49754337 49754337 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138733.4 -1 reviewed p.F188L 0.999 145 0% 38 23.7% - - benign(0.201) tolerated(0.16) neutral(0.079) HMMPfam_PGK,superfamily_PGK PGK2 5232 genome.wustl.edu 37 6 49754598 49754598 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138733.4 -1 reviewed p.G101 0.032 158 0% 40 35% - - - - - HMMPfam_PGK,superfamily_PGK DEFB133 403339 genome.wustl.edu 37 6 49913907 49913907 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000398721 -1 known p.C31 0.879 220 0% 86 18.6% - - - - - NULL PKHD1 5314 genome.wustl.edu 37 6 51893134 51893134 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138694.3 -1 reviewed p.V1127A 0.918 68 0% 29 41.4% - - benign(0) tolerated(0.67) neutral(0.003) HMMSmart_SM00429,superfamily_E set domains PKHD1 5314 genome.wustl.edu 37 6 51930773 51930773 + Splice_Site SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138694.3 -1 reviewed e11+1 1.000 154 0% 100 55% - - - - - - EFHC1 114327 genome.wustl.edu 37 6 52288824 52288824 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018100.3 +1 reviewed p.G48 0.304 43 0% 34 35.3% - - - - - NULL LOC647169 647169 genome.wustl.edu 37 6 52631198 52631198 + Missense_Mutation SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_930196.2 -1 model p.E131D 0.992 94 0% 28 25% - - - - - HMMPfam_GST_C,superfamily_Glutathione S-transferase (GST) C-terminal domain GCLC 2729 genome.wustl.edu 37 6 53373404 53373404 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001498.2 -1 reviewed p.R312* 1.000 122 0% 79 32.9% - - - - - HMMPfam_GCS,superfamily_Glutamine synthetase/guanido kinase MLIP 90523 genome.wustl.edu 37 6 54025383 54025383 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138569.2 +1 validated p.D274N 1.000 74 0% 22 40.9% - - probably_damaging(0.965) deleterious(0) deleterious(0.851) NULL MLIP 90523 genome.wustl.edu 37 6 54054695 54054695 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138569.2 +1 validated p.V323L 0.433 163 0% 78 23.1% - - unknown(0) tolerated(0.17) - NULL FAM83B 222584 genome.wustl.edu 37 6 54804816 54804816 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001010872.1 +1 validated p.D349 1.000 51 0% 20 50% - - - - - NULL FAM83B 222584 genome.wustl.edu 37 6 54805325 54805325 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001010872.1 +1 validated p.R519Q 0.971 122 0% 39 30.8% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL COL21A1 81578 genome.wustl.edu 37 6 56035494 56035494 + Missense_Mutation SNP C C T rs142653960 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030820.3 -1 reviewed p.V327I 0.666 195 0% 57 35.1% - - benign(0) tolerated(0.5) neutral(0.010) HMMSmart_SM00210 DST 667 genome.wustl.edu 37 6 56330954 56330954 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015548.4 -1 reviewed p.R4914W 0.944 203 0% 70 31.4% - - probably_damaging(1) - - HMMPfam_GAS2,HMMSmart_SM00243 DST 667 genome.wustl.edu 37 6 56380318 56380318 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015548.4 -1 reviewed p.S3546* 0.005 199 0% 42 33.3% - - - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat DST 667 genome.wustl.edu 37 6 56471503 56471503 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000370769 -1 known p.Y2430 0.339 109 0% 32 43.8% - - - - - NULL DST 667 genome.wustl.edu 37 6 56485434 56485434 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001723.5 -1 reviewed p.N1133T 0.813 178 0% 59 45.8% - - benign(0.001) tolerated(0.55) neutral(0.007) NULL KIAA1586 57691 genome.wustl.edu 37 6 56919147 56919147 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020931.2 +1 validated p.R617H 0.011 25 0% 24 37.5% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL ZNF451 26036 genome.wustl.edu 37 6 57012840 57012840 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001031623.2 +1 validated p.R653* 0.982 66 0% 19 47.4% - - - - - PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF451 26036 genome.wustl.edu 37 6 57017086 57017086 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001031623.2 +1 validated p.C940 0.997 155 0% 69 34.8% - - - - - NULL RAB23 51715 genome.wustl.edu 37 6 57061346 57061346 + Silent SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016277.3 -1 reviewed p.V100 1.000 167 0% 95 9.5% - - - - - HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases KHDRBS2 202559 genome.wustl.edu 37 6 62390966 62390966 + Splice_Site SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152688.2 -1 validated e9-1 1.000 153 0% 27 25.9% - - - - - - PHF3 23469 genome.wustl.edu 37 6 64423249 64423249 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015153.2 +1 provisional p.R1922I 1.000 81 0% 45 37.8% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL PHF3 23469 genome.wustl.edu 37 6 64488097 64488097 + Missense_Mutation SNP C C T rs146094035 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000505138 +1 known p.R168C 0.000 44 0% 11 36.4% - - benign(0.29) - - NULL EYS 346007 genome.wustl.edu 37 6 64498097 64498097 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000398580 -1 known p.W313* 0.969 135 0% 38 34.2% - - possibly_damaging(0.888) - - HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 EYS 346007 genome.wustl.edu 37 6 64516087 64516087 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000398580 -1 known p.A241V 1.000 157 0% 45 35.6% - - - - - HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 EYS 346007 genome.wustl.edu 37 6 65300283 65300283 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001142800.1 -1 reviewed p.S1826Y 0.001 135 0% 26 46.2% - - benign(0.238) - - superfamily_Concanavalin A-like lectins/glucanases EYS 346007 genome.wustl.edu 37 6 65301488 65301488 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001142800.1 -1 reviewed p.T1424 0.994 84 0% 22 36.4% - - - - - superfamily_Concanavalin A-like lectins/glucanases EYS 346007 genome.wustl.edu 37 6 66094383 66094383 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001142800.1 -1 reviewed p.G399* 0.968 151 0% 26 46.2% - - - - - HMMSmart_SM00181,PatternScan_EGF_2,superfamily_EGF/Laminin EYS 346007 genome.wustl.edu 37 6 66205225 66205225 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001142800.1 -1 reviewed p.Q27* 0.000 95 0% 27 37% - - - - - NULL EYS 346007 genome.wustl.edu 37 6 66205228 66205228 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001142800.1 -1 reviewed p.R26W 0.000 96 0% 26 46.2% - - benign(0.001) - - NULL BAI3 577 genome.wustl.edu 37 6 69703748 69703748 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001704.2 +1 reviewed p.R608I 1.000 155 0% 48 39.6% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL BAI3 577 genome.wustl.edu 37 6 70071236 70071236 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001704.2 +1 reviewed p.D1357 1.000 93 0% 22 36.4% - - - - - NULL LMBRD1 55788 genome.wustl.edu 37 6 70410689 70410689 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018368.3 -1 reviewed p.R386* 1.000 63 0% 12 33.3% - - - - - HMMPfam_LMBR1 COL19A1 1310 genome.wustl.edu 37 6 70831821 70831821 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001858.4 +1 reviewed p.N443S 0.999 69 0% 15 46.7% - - benign(0.35) - - NULL FAM135A 57579 genome.wustl.edu 37 6 71195924 71195924 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020819.4 +1 validated p.R250Q 0.971 105 0% 16 50% - - benign(0.242) tolerated(0.33) neutral(0.049) NULL RIMS1 22999 genome.wustl.edu 37 6 72889550 72889550 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014989.4 +1 reviewed p.S248 0.003 32 0% 47 27.7% - - - - - NULL RIMS1 22999 genome.wustl.edu 37 6 72962485 72962485 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014989.4 +1 reviewed p.S907N 1.000 313 0% 72 15.3% - - probably_damaging(0.995) deleterious(0.02) deleterious(0.841) NULL RIMS1 22999 genome.wustl.edu 37 6 72993764 72993764 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014989.4 +1 reviewed p.S1166Y 1.000 183 0% 67 29.9% - - benign(0.113) tolerated(0.83) neutral(0.009) NULL RIMS1 22999 genome.wustl.edu 37 6 73000508 73000508 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014989.4 +1 reviewed p.C1227W 0.998 80 0% 23 17.4% - - probably_damaging(0.991) deleterious(0.02) deleterious(0.827) NULL KCNQ5 56479 genome.wustl.edu 37 6 73332313 73332313 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_019842.3 +1 reviewed p.F132 1.000 9 0.000 15 0.533 - - - - - superfamily_Voltage-gated potassium channels DDX43 55510 genome.wustl.edu 37 6 74124377 74124377 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018665.2 +1 reviewed p.Y571 1.000 81 0% 110 38.2% - - - - - HMMPfam_Helicase_C,HMMSmart_HELICc,superfamily_SSF52540 MTO1 25821 genome.wustl.edu 37 6 74171595 74171595 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001123226.1 +1 reviewed p.G6 0.020 58 0% 81 38.3% - - - - - NULL FILIP1 27145 genome.wustl.edu 37 6 76023199 76023199 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015687.2 -1 validated p.S783 0.998 171 0% 67 49.3% - - - - - NULL FILIP1 27145 genome.wustl.edu 37 6 76024467 76024467 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015687.2 -1 validated p.E361* 1.000 177 0% 122 38.5% - - - - - HMMPfam_CortBP2 SENP6 26054 genome.wustl.edu 37 6 76372947 76372947 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015571.2 +1 validated p.R236I 1.000 76 0% 34 41.2% - - possibly_damaging(0.933) deleterious(0) deleterious(0.824) NULL IRAK1BP1 134728 genome.wustl.edu 37 6 79607819 79607819 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001010844.1 +1 provisional p.R184H 0.967 117 0% 45 37.8% - - probably_damaging(0.997) tolerated(0.38) deleterious(0.484) HMMPfam_DUF541 ELOVL4 6785 genome.wustl.edu 37 6 80635951 80635951 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022726.3 -1 reviewed p.N83T 1.000 87 0% 26 15.4% - - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_ELO IBTK 25998 genome.wustl.edu 37 6 82906116 82906116 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015525.2 -1 reviewed p.L1025 0.324 89 0% 43 48.8% - - - - - NULL UBE3D 90025 genome.wustl.edu 37 6 83754270 83754270 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198920.1 -1 provisional p.E158D 0.024 104 0% 64 39.1% - - possibly_damaging(0.633) tolerated(0.52) neutral(0.230) HMMPfam_DUF2351 DOPEY1 23033 genome.wustl.edu 37 6 83845374 83845374 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015018.2 +1 validated p.L969 0.748 167 0% 27 25.9% - - - - - NULL DOPEY1 23033 genome.wustl.edu 37 6 83845519 83845519 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015018.2 +1 validated p.R1018C 1.000 93 0% 21 28.6% - - benign(0.019) tolerated(0.08) neutral(0.301) NULL DOPEY1 23033 genome.wustl.edu 37 6 83848462 83848462 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015018.2 +1 validated p.F1567L 0.980 103 0% 22 36.4% - - benign(0.01) tolerated(0.71) neutral(0.002) NULL DOPEY1 23033 genome.wustl.edu 37 6 83872603 83872603 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015018.2 +1 validated p.V2353I 1.000 236 0.4% 67 29.9% - - probably_damaging(0.99) tolerated(0.21) deleterious(0.485) NULL PRSS35 167681 genome.wustl.edu 37 6 84234102 84234102 + Silent SNP C C T rs139406931 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153362.2 +1 validated p.N314 0.312 74 0% 33 33.3% - - - - - HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys SNAP91 9892 genome.wustl.edu 37 6 84284739 84284739 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014841.2 -1 validated p.S811I 0.998 55 0% 43 41.9% - - possibly_damaging(0.837) tolerated(0.14) deleterious(0.569) NULL CYB5R4 51167 genome.wustl.edu 37 6 84665137 84665137 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016230.3 +1 validated p.L489 0.969 119 0% 28 32.1% - - - - - HMMPfam_NAD_binding_1,superfamily_SSF52343 MRAP2 112609 genome.wustl.edu 37 6 84798828 84798828 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138409.2 +1 validated p.E82D 1.000 63 0% 31 29% - - benign(0.147) tolerated(0.07) neutral(0.332) NULL KIAA1009 22832 genome.wustl.edu 37 6 84859327 84859327 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014895.2 -1 validated p.S1242Y 1.000 266 0% 46 34.8% - - probably_damaging(0.999) tolerated(0.08) deleterious(0.790) NULL ZNF292 23036 genome.wustl.edu 37 6 87965532 87965532 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015021.1 +1 validated p.R729W 0.649 70 0% 25 32% - - probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355 ZNF292 23036 genome.wustl.edu 37 6 87969750 87969750 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015021.1 +1 validated p.Y2135H 1.000 97 0% 26 38.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF292 23036 genome.wustl.edu 37 6 87970428 87970428 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015021.1 +1 validated p.R2361C 1.000 76 0% 21 52.4% - - benign(0.175) deleterious(0) neutral(0.461) NULL ZNF292 23036 genome.wustl.edu 37 6 87970560 87970560 + Silent SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015021.1 +1 validated p.R2405 1.000 94 0% 18 55.6% - - - - - PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers C6orf163 206412 genome.wustl.edu 37 6 88066164 88066164 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_001720635.1 +1 model p.E40G 0.016 82 0% 29 44.8% - - benign(0.397) tolerated(0.23) neutral(0.169) NULL C6orf163 206412 genome.wustl.edu 37 6 88075031 88075031 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_001720635.1 +1 model p.G177* 1.000 55 0% 22 59.1% - - - - - NULL RARS2 57038 genome.wustl.edu 37 6 88226547 88226547 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020320.3 -1 reviewed p.I521 0.999 137 0% 72 25% - - - - - HMMPfam_DALR_1,superfamily_Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases CNR1 1268 genome.wustl.edu 37 6 88854202 88854202 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016083.4 -1 reviewed p.C264 1.000 64 0% 48 20.8% - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CNR1 1268 genome.wustl.edu 37 6 88854525 88854525 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016083.4 -1 reviewed p.G157S 1.000 30 0% 24 25% - - benign(0.028) tolerated(0.11) neutral(0.273) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CNR1 1268 genome.wustl.edu 37 6 88854894 88854894 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016083.4 -1 reviewed p.K34E 1.000 134 0% 89 42.7% - - benign(0.026) tolerated(0.27) neutral(0.035) NULL GABRR1 2569 genome.wustl.edu 37 6 89890198 89890198 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002042.3 -1 reviewed p.T320M 1.000 96 0% 57 26.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore GABRR1 2569 genome.wustl.edu 37 6 89910903 89910903 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002042.3 -1 reviewed p.D85E 0.991 239 0% 134 43.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like RRAGD 58528 genome.wustl.edu 37 6 90089992 90089992 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021244.4 -1 validated p.K180T 1.000 140 0% 65 32.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Gtr1_RagA,superfamily_P-loop containing nucleoside triphosphate hydrolases MDN1 23195 genome.wustl.edu 37 6 90382359 90382359 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014611.1 -1 provisional p.R4513* 0.997 183 0% 100 31% - - - - - NULL MDN1 23195 genome.wustl.edu 37 6 90387403 90387403 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014611.1 -1 provisional p.R4142H 1.000 185 0% 100 45% - - probably_damaging(1) tolerated(0.1) deleterious(0.786) NULL MDN1 23195 genome.wustl.edu 37 6 90425449 90425449 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014611.1 -1 provisional p.P2261 0.999 107 0% 39 28.2% - - - - - HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases MDN1 23195 genome.wustl.edu 37 6 90491104 90491104 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000421327 -1 known p.Q553* 0.001 77 0% 39 43.6% - - - - - NULL CASP8AP2 9994 genome.wustl.edu 37 6 90581081 90581081 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001137667.1 +1 reviewed p.A1956T 0.565 149 0% 88 11.4% - - - - - superfamily_Homeodomain-like GJA10 84694 genome.wustl.edu 37 6 90605773 90605773 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032602.1 +1 validated p.R529I 0.000 110 0% 83 30.1% - - benign(0.213) deleterious(0.03) neutral(0.386) NULL GJA10 84694 genome.wustl.edu 37 6 90605791 90605791 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032602.1 +1 validated p.S535L 0.009 94 0% 62 37.1% - - benign(0.202) tolerated(0.23) neutral(0.061) NULL BACH2 60468 genome.wustl.edu 37 6 90647949 90647949 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021813.2 -1 validated p.R653C 1.000 98 0% 97 35.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_BRLZ,PatternScan_BZIP_BASIC,superfamily_Euk_transcr_DNA,HMMPfam_bZIP_1 MAP3K7 6885 genome.wustl.edu 37 6 91261827 91261827 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_145331.1 -1 reviewed p.D270Y 1.000 286 0% 119 33.6% - - probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase EPHA7 2045 genome.wustl.edu 37 6 93955126 93955126 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004440.3 -1 reviewed p.T924 0.995 131 0% 39 33.3% - - - - - HMMPfam_SAM_1,HMMSmart_SM00454,superfamily_SAM/Pointed domain MANEA 79694 genome.wustl.edu 37 6 96034537 96034537 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024641.2 +1 validated p.K74N 0.999 144 0% 60 40% - - possibly_damaging(0.796) tolerated(0.36) neutral(0.319) NULL KLHL32 114792 genome.wustl.edu 37 6 97423913 97423913 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_052904.3 +1 validated p.E22K 0.994 69 0% 16 37.5% - - benign(0) tolerated(0.44) neutral(0.013) superfamily_POZ domain FBXL4 26235 genome.wustl.edu 37 6 99323413 99323413 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012160.3 -1 reviewed p.R527K 0.740 74 0% 28 32.1% - - benign(0) tolerated(0.84) neutral(0.001) superfamily_SSF52047 COQ3 51805 genome.wustl.edu 37 6 99828173 99828173 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017421.3 -1 validated p.D93G 1.000 70 0% 26 26.9% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_S-adenosyl-L-methionine-dependent methyltransferases PNISR 25957 genome.wustl.edu 37 6 99856005 99856005 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015491.1 -1 validated p.E272D 0.442 160 0% 57 29.8% - - unknown(0) tolerated(0.75) - NULL PNISR 25957 genome.wustl.edu 37 6 99857100 99857100 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015491.1 -1 validated p.R208C 1.000 169 0% 46 15.2% - - possibly_damaging(0.936) deleterious(0) deleterious(0.826) NULL SIM1 6492 genome.wustl.edu 37 6 100895236 100895236 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005068.2 -1 reviewed p.G302 0.228 99 0% 126 32.5% - - - - - HMMSmart_PAC,HMMPfam_PAS_3,superfamily_SSF55785 SIM1 6492 genome.wustl.edu 37 6 100897309 100897309 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005068.2 -1 reviewed p.R158H 1.000 31 0% 52 34.6% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_SSF55785 ASCC3 10973 genome.wustl.edu 37 6 101103625 101103625 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006828.2 -1 validated p.R925W 1.000 131 0% 19 47.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PREP 5550 genome.wustl.edu 37 6 105726055 105726055 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002726.3 -1 reviewed p.F699L 1.000 66 0% 55 43.6% - - probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMPfam_Peptidase_S9,superfamily_SSF53474 PRDM1 639 genome.wustl.edu 37 6 106553275 106553275 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001198.3 +1 reviewed p.L414F 1.000 32 0% 35 45.7% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL LOC100287304 100287304 genome.wustl.edu 37 6 106555013 106555013 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002342660.1 -1 model p.A130T 1.000 79 0% 83 41% - - - - - NULL AIM1 202 genome.wustl.edu 37 6 106967945 106967945 + Silent SNP C C T rs147933204 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001624.2 +1 validated p.L546 0.835 34 0% 25 32% - - - - - NULL SOBP 55084 genome.wustl.edu 37 6 107955572 107955572 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018013.3 +1 validated p.N508K 0.998 4 0.000 16 0.625 - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SCML4 256380 genome.wustl.edu 37 6 108042032 108042032 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198081.3 -1 validated p.P283H 0.001 48 0% 38 31.6% - - benign(0.075) deleterious(0.03) neutral(0.369) NULL NR2E1 7101 genome.wustl.edu 37 6 108492735 108492735 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003269.3 +1 validated p.C33 1.000 92 0% 183 38.3% - - - - - HMMPfam_zf-C4,HMMSmart_SM00399,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain) MICAL1 64780 genome.wustl.edu 37 6 109770971 109770971 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022765.3 -1 validated p.Q441H 1.000 129 0% 220 38.2% - - probably_damaging(0.982) deleterious(0) deleterious(0.871) superfamily_Calponin-homology domain CH-domain MICAL1 64780 genome.wustl.edu 37 6 109771545 109771545 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022765.3 -1 validated p.G383 0.015 15 0% 52 44.2% - - - - - superfamily_Calponin-homology domain CH-domain,superfamily_FAD/NAD(P)-binding domain ZBTB24 9841 genome.wustl.edu 37 6 109787329 109787329 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014797.2 -1 validated p.L607I 1.000 123 0% 87 33.3% - - possibly_damaging(0.633) deleterious(0.01) deleterious(0.627) NULL ZBTB24 9841 genome.wustl.edu 37 6 109802476 109802476 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014797.2 -1 validated p.R252* 1.000 132 0% 221 39.8% - - - - - NULL FIG4 9896 genome.wustl.edu 37 6 110083397 110083397 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014845.5 +1 reviewed p.R459W 1.000 204 0% 72 31.9% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL FIG4 9896 genome.wustl.edu 37 6 110112708 110112708 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014845.5 +1 reviewed p.G770 0.991 35 0% 34 44.1% - - - - - NULL CDC40 51362 genome.wustl.edu 37 6 110522801 110522801 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015891.2 +1 reviewed p.A106V 1.000 174 0% 75 34.7% - - benign(0.108) deleterious(0.03) neutral(0.373) NULL DDO 8528 genome.wustl.edu 37 6 110714324 110714324 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003649.2 -1 reviewed p.G255V 1.000 56 0% 49 16.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DAO,superfamily_Nucleotide-binding domain,superfamily_FAD-linked reductases C-terminal domain LOC441166 441166 genome.wustl.edu 37 6 111179868 111179868 + RNA SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XR_016728.3 +1 model NULL 1.000 41 0% 26 34.6% - - - - - - SLC16A10 117247 genome.wustl.edu 37 6 111527814 111527814 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018593.4 +1 validated p.R321I 0.955 172 0% 74 28.4% - - probably_damaging(0.976) tolerated(0.23) neutral(0.459) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter KIAA1919 91749 genome.wustl.edu 37 6 111587305 111587305 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153369.2 +1 validated p.K180N 0.000 191 0% 188 35.6% - - benign(0.001) tolerated(0.49) neutral(0.011) HMMPfam_MFS_1,superfamily_MFS general substrate transporter REV3L 5980 genome.wustl.edu 37 6 111695024 111695024 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002912.3 -1 validated p.R1512* 0.985 218 0% 81 28.4% - - - - - superfamily_Ribonuclease H-like FRK 2444 genome.wustl.edu 37 6 116264191 116264191 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002031.2 -1 reviewed p.P433H 1.000 104 0% 36 41.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like FRK 2444 genome.wustl.edu 37 6 116325061 116325061 + Nonsense_Mutation SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002031.2 -1 reviewed p.K149* 1.000 142 0% 28 53.6% - - - - - HMMPfam_SH2,HMMSmart_SH2,superfamily_SSF55550 COL10A1 1300 genome.wustl.edu 37 6 116442210 116442210 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000493.3 -1 reviewed p.L357F 0.000 39 0% 21 23.8% - - unknown(0) tolerated(0.76) - HMMPfam_Collagen LOC100287430 100287430 genome.wustl.edu 37 6 116579892 116579892 + RNA SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XR_078343.1 -1 model NULL 1.000 42 0% 40 42.5% - - benign(0.003) - - - DSE 29940 genome.wustl.edu 37 6 116720694 116720694 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080976.1 +1 reviewed p.Y94C 1.000 50 0% 29 37.9% - - possibly_damaging(0.509) deleterious(0.02) deleterious(0.553) NULL GPRC6A 222545 genome.wustl.edu 37 6 117121960 117121960 + Splice_Site SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_148963.2 -1 validated e4-1 1.000 70 0% 20 40% - - - - - - ROS1 6098 genome.wustl.edu 37 6 117677961 117677961 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002944.2 -1 reviewed p.R1324S 0.000 280 0% 81 37% - - benign(0) deleterious(0.03) neutral(0.364) superfamily_SSF63825 ROS1 6098 genome.wustl.edu 37 6 117680985 117680985 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002944.2 -1 reviewed p.R1212H 0.000 107 0% 39 48.7% - - benign(0.001) tolerated(0.56) neutral(0.006) superfamily_SSF63825 PLN 5350 genome.wustl.edu 37 6 118880208 118880208 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002667.3 +1 reviewed p.L42I 1.000 227 0% 79 31.6% - - benign(0.043) deleterious(0) neutral(0.447) HMMPfam_Phospholamban MAN1A1 4121 genome.wustl.edu 37 6 119501047 119501047 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005907.2 -1 reviewed p.S633 0.096 168 0% 31 38.7% - - - - - HMMPfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 MAN1A1 4121 genome.wustl.edu 37 6 119509728 119509728 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005907.2 -1 reviewed p.P521T 1.000 171 0% 56 16.1% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 MAN1A1 4121 genome.wustl.edu 37 6 119522442 119522442 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005907.2 -1 reviewed p.P396L 1.000 392 0% 89 34.8% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 MAN1A1 4121 genome.wustl.edu 37 6 119623164 119623164 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005907.2 -1 reviewed p.D269Y 1.000 86 0% 39 33.3% - - possibly_damaging(0.84) deleterious(0.01) deleterious(0.727) HMMPfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 GJA1 2697 genome.wustl.edu 37 6 121768447 121768447 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000165.3 +1 reviewed p.L152M 1.000 105 0% 78 44.9% - - probably_damaging(0.995) tolerated(0.28) deleterious(0.489) NULL TRDN 10345 genome.wustl.edu 37 6 123594123 123594123 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006073.2 -1 validated p.S553Y 0.848 65 0% 16 43.8% - - probably_damaging(0.976) tolerated(0.05) deleterious(0.763) NULL RNF146 81847 genome.wustl.edu 37 6 127608586 127608586 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030963.2 +1 provisional p.G275 1.000 176 0% 31 45.2% - - - - - NULL KIAA0408 9729 genome.wustl.edu 37 6 127768013 127768013 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014702.4 -1 validated p.S484N 0.011 143 0% 31 35.5% - - benign(0) tolerated(1) - NULL LOC100287918 100287918 genome.wustl.edu 37 6 127981072 127981072 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002342669.1 +1 model p.F37 0.901 159 0% 52 34.6% - - - - - NULL THEMIS 387357 genome.wustl.edu 37 6 128031162 128031162 + Splice_Site SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001010923.2 -1 reviewed e6-1 1.000 152 0% 42 31% - - - - - - THEMIS 387357 genome.wustl.edu 37 6 128150891 128150891 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001010923.2 -1 reviewed p.E147* 0.818 141 0% 72 29.2% - - - - - NULL PTPRK 5796 genome.wustl.edu 37 6 128302385 128302385 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001135648.1 -1 validated p.A1202V 1.000 86 0% 32 37.5% - - probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMSmart_PTPc,superfamily_SSF52799 PTPRK 5796 genome.wustl.edu 37 6 128403749 128403749 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001135648.1 -1 validated p.A537V 1.000 115 0% 21 19% - - benign(0.245) tolerated(0.12) neutral(0.286) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like PTPRK 5796 genome.wustl.edu 37 6 128718812 128718812 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001135648.1 -1 validated p.G41D 1.000 186 0% 71 28.2% - - benign(0.003) tolerated(0.93) - HMMPfam_MAM,HMMSmart_MAM LAMA2 3908 genome.wustl.edu 37 6 129824253 129824253 + Missense_Mutation SNP A A T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000426.3 +1 reviewed p.E2792V 1.000 156 0% 33 36.4% - - probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMSmart_LamG,superfamily_ConA_like_lec_gl LAMA2 3908 genome.wustl.edu 37 6 129835558 129835558 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000426.3 +1 reviewed p.A3010V 1.000 85 0% 27 48.1% - - probably_damaging(1) tolerated(0.69) deleterious(0.502) HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 TMEM200A 114801 genome.wustl.edu 37 6 130762228 130762228 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_052913.2 +1 provisional p.R221* 0.876 91 0% 24 54.2% - - - - - NULL EPB41L2 2037 genome.wustl.edu 37 6 131179383 131179383 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001431.3 -1 validated p.A971S 1.000 107 0% 88 42% - - possibly_damaging(0.915) deleterious(0.01) deleterious(0.772) HMMPfam_4_1_CTD EPB41L2 2037 genome.wustl.edu 37 6 131277212 131277212 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001431.3 -1 validated p.E138D 0.023 328 0% 186 35.5% - - benign(0.002) deleterious(0.01) neutral(0.406) NULL ARG1 383 genome.wustl.edu 37 6 131904992 131904992 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000045.2 +1 reviewed p.G305R 1.000 123 0% 21 33.3% - - benign(0.001) tolerated(0.08) neutral(0.300) HMMPfam_Arginase,superfamily_Arginase/deacetylase MED23 9439 genome.wustl.edu 37 6 131931323 131931323 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004830.2 -1 reviewed p.R314* 1.000 99 0% 22 27.3% - - - - - NULL ENPP3 5169 genome.wustl.edu 37 6 131999027 131999027 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005021.3 +1 reviewed p.Y320H 0.961 213 0% 67 37.3% - - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_Phosphodiest,superfamily_Alkaline_phosphatase_core ENPP3 5169 genome.wustl.edu 37 6 132006533 132006533 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005021.3 +1 reviewed p.E384K 1.000 134 0% 50 30% - - possibly_damaging(0.947) tolerated(0.07) deleterious(0.710) HMMPfam_Phosphodiest,superfamily_Alkaline_phosphatase_core CTAGE9 643854 genome.wustl.edu 37 6 132031544 132031544 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001145659.1 -1 provisional p.R205Q 0.000 819 0% 778 11.6% - - benign(0.001) tolerated(0.11) neutral(0.272) NULL ENPP1 5167 genome.wustl.edu 37 6 132207750 132207750 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006208.2 +1 reviewed p.F831L 1.000 81 0% 41 31.7% - - probably_damaging(0.981) tolerated(0.08) deleterious(0.726) HMMSmart_NUC,superfamily_SSF54060 TAAR2 9287 genome.wustl.edu 37 6 132938300 132938300 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001033080.1 -1 validated p.E349* 0.977 44 0% 14 28.6% - - - - - NULL SLC18B1 116843 genome.wustl.edu 37 6 133111344 133111344 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_052831.2 -1 validated p.L84S 0.956 95 0% 80 12.5% - - benign(0.214) deleterious(0) neutral(0.466) HMMPfam_MFS_1,superfamily_MFS general substrate transporter RPS12 6206 genome.wustl.edu 37 6 133136223 133136223 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001016.3 +1 reviewed p.D43N 1.000 196 0% 180 41.1% - - benign(0.405) deleterious(0) deleterious(0.575) HMMPfam_Ribosomal_L7Ae,superfamily_L30e-like EYA4 2070 genome.wustl.edu 37 6 133836492 133836492 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004100.4 +1 reviewed p.L512P 1.000 125 0% 52 17.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Hydrolase SGK1 6446 genome.wustl.edu 37 6 134638552 134638552 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001143676.1 -1 reviewed p.A16V 1.000 167 0% 151 31.1% - - benign(0.355) deleterious(0) deleterious(0.557) NULL ALDH8A1 64577 genome.wustl.edu 37 6 135260487 135260487 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022568.2 -1 reviewed p.A170V 1.000 105 0% 92 30.4% - - possibly_damaging(0.498) tolerated(0.09) neutral(0.463) HMMPfam_Aldedh,superfamily_ALDH-like AHI1 54806 genome.wustl.edu 37 6 135621673 135621673 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001134830.1 -1 reviewed p.S1150 0.981 270 0% 105 41% - - - - - NULL BCLAF1 9774 genome.wustl.edu 37 6 136599392 136599392 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014739.2 -1 reviewed p.S209 0.985 482 0.2% 129 14% - - - - - NULL BCLAF1 9774 genome.wustl.edu 37 6 136599421 136599421 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014739.2 -1 reviewed p.D200N 1.000 491 0.2% 135 24.4% - - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL MAP7 9053 genome.wustl.edu 37 6 136683652 136683652 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003980.3 -1 reviewed p.R488W 1.000 257 0% 324 38% - - unknown(0) deleterious(0) - HMMPfam_MAP7 MAP7 9053 genome.wustl.edu 37 6 136687118 136687118 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003980.3 -1 reviewed p.P343L 1.000 94 0% 104 34.6% - - unknown(0) tolerated(0.19) - NULL MAP7 9053 genome.wustl.edu 37 6 136710518 136710518 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003980.3 -1 reviewed p.R128W 1.000 93 0% 61 41% - - unknown(0) deleterious(0) - NULL SLC35D3 340146 genome.wustl.edu 37 6 137245614 137245614 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001008783.1 +1 provisional p.G344V 0.006 73 0% 150 30.7% - - benign(0.005) deleterious(0.02) neutral(0.383) NULL OLIG3 167826 genome.wustl.edu 37 6 137814969 137814969 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_175747.2 -1 provisional p.A113 0.922 47 0% 91 39.6% - - - - - HMMPfam_HLH,HMMSmart_HLH,superfamily_HLH_basic TNFAIP3 7128 genome.wustl.edu 37 6 138199662 138199662 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006290.2 +1 reviewed p.S360 0.005 58 0% 54 72.2% - - - - - NULL KIAA1244 57221 genome.wustl.edu 37 6 138656226 138656226 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020340.4 +1 validated p.S2081 0.994 33 0% 26 30.8% - - - - - NULL NHSL1 57224 genome.wustl.edu 37 6 138817391 138817391 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001144060.1 -1 validated p.R59H 1.000 110 0% 37 48.6% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL TXLNB 167838 genome.wustl.edu 37 6 139564433 139564433 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153235.3 -1 validated p.E429* 1.000 100 0% 83 37.3% - - - - - HMMPfam_Taxilin GPR126 57211 genome.wustl.edu 37 6 142764480 142764480 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198569.2 +1 reviewed p.A1194V 0.825 96 0% 27 44.4% - - benign(0) tolerated(0.7) neutral(0.002) NULL HIVEP2 3097 genome.wustl.edu 37 6 143093202 143093202 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006734.3 -1 provisional p.R892* 0.889 149 0% 156 32.1% - - - - - NULL HIVEP2 3097 genome.wustl.edu 37 6 143095522 143095522 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006734.3 -1 provisional p.S118 1.000 101 0% 63 36.5% - - - - - NULL LTV1 84946 genome.wustl.edu 37 6 144184235 144184235 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032860.3 +1 provisional p.R377* 0.986 145 0% 44 29.5% - - - - - HMMPfam_LTV UTRN 7402 genome.wustl.edu 37 6 144769867 144769867 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007124.2 +1 reviewed p.K678N 1.000 79 0% 28 32.1% - - probably_damaging(1) tolerated(0.07) deleterious(0.819) NULL UTRN 7402 genome.wustl.edu 37 6 144794936 144794936 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007124.2 +1 reviewed p.D1049 0.000 140 0% 137 32.8% - - - - - HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin UTRN 7402 genome.wustl.edu 37 6 144794948 144794948 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007124.2 +1 reviewed p.Q1053H 1.000 136 0% 129 45.7% - - probably_damaging(0.964) deleterious(0.01) deleterious(0.812) HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin UTRN 7402 genome.wustl.edu 37 6 144843241 144843241 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007124.2 +1 reviewed p.S1889 0.522 95 0% 27 40.7% - - - - - NULL UTRN 7402 genome.wustl.edu 37 6 144875968 144875968 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007124.2 +1 reviewed p.R2358Q 0.185 84 0% 23 34.8% - - possibly_damaging(0.844) tolerated(0.25) neutral(0.360) HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin FBXO30 84085 genome.wustl.edu 37 6 146127493 146127493 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032145.4 -1 reviewed p.R17W 1.000 96 0% 55 41.8% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL GRM1 2911 genome.wustl.edu 37 6 146755778 146755778 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000838.3 +1 reviewed p.A1144V 1.000 11 0% 22 54.5% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_GluR_Homer-bdg SASH1 23328 genome.wustl.edu 37 6 148865586 148865586 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015278.3 +1 validated p.E994* 1.000 25 0% 49 36.7% - - - - - NULL SASH1 23328 genome.wustl.edu 37 6 148865728 148865728 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015278.3 +1 validated p.P1041L 0.000 12 0% 25 24% - - benign(0.042) deleterious(0.01) neutral(0.408) NULL TAB2 23118 genome.wustl.edu 37 6 149700469 149700469 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015093.4 +1 reviewed p.P473L 1.000 93 0% 47 31.9% - - probably_damaging(1) tolerated(0.11) deleterious(0.772) NULL PPIL4 85313 genome.wustl.edu 37 6 149826775 149826775 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_139126.2 -1 reviewed p.K431N 1.000 312 0% 132 35.6% - - unknown(0) - - superfamily_RNA-binding domain RBD PCMT1 5110 genome.wustl.edu 37 6 150114748 150114748 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005389.2 +1 validated p.N121H 1.000 95 0% 85 30.6% - - benign(0.013) tolerated(0.06) neutral(0.323) HMMPfam_PCMT,superfamily_S-adenosyl-L-methionine-dependent methyltransferases RAET1G 353091 genome.wustl.edu 37 6 150240218 150240218 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001001788.2 -1 provisional p.L198 0.000 389 0% 473 33.6% - - - - - HMMPfam_MHC_I,superfamily_MHC antigen-recognition domain PLEKHG1 57480 genome.wustl.edu 37 6 151151892 151151892 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001029884.1 +1 provisional p.P549S 0.045 95 0% 87 41.4% - - benign(0.029) tolerated(0.13) neutral(0.254) NULL C6orf211 79624 genome.wustl.edu 37 6 151789603 151789603 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024573.1 +1 predicted p.H228 0.169 103 0% 57 15.8% - - - - - HMMPfam_DUF89,superfamily_DUF89 SYNE1 23345 genome.wustl.edu 37 6 152501301 152501301 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182961.2 -1 reviewed p.L7810 1.000 276 0% 114 46.5% - - - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152529286 152529286 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182961.2 -1 reviewed p.R7549C 1.000 126 0% 29 24.1% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152671413 152671413 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182961.2 -1 reviewed p.L3931I 1.000 102 0% 47 25.5% - - probably_damaging(1) - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152751261 152751261 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182961.2 -1 reviewed p.L1592I 1.000 82 0% 24 37.5% - - probably_damaging(0.991) - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152765627 152765627 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000367248 -1 known p.*811Q 0.990 152 0% 129 38% - - - - - NULL FBXO5 26271 genome.wustl.edu 37 6 153296595 153296595 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012177.3 -1 reviewed p.D89Y 1.000 225 0% 185 35.1% - - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) NULL OPRM1 4988 genome.wustl.edu 37 6 154360918 154360918 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001145279.1 +1 reviewed p.V173A 1.000 81 0% 97 29.9% - - probably_damaging(0.982) deleterious(0) deleterious(0.871) superfamily_SSF81321 OPRM1 4988 genome.wustl.edu 37 6 154412576 154412576 + Missense_Mutation SNP C C T rs184553578 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001145279.1 +1 reviewed p.T471M 0.998 17 0% 12 41.7% - - probably_damaging(1) deleterious(0.05) deleterious(0.845) superfamily_SSF81321 OPRM1 4988 genome.wustl.edu 37 6 154567885 154567885 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001008503.1 +1 reviewed p.R408H 0.004 173 0% 38 26.3% - - benign(0.013) deleterious(0.01) neutral(0.406) NULL SCAF8 22828 genome.wustl.edu 37 6 155109099 155109099 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014892.3 +1 validated p.F88 1.000 241 0% 100 31% - - - - - HMMSmart_RPR,HMMPfam_DUF618,superfamily_ENTH_VHS SCAF8 22828 genome.wustl.edu 37 6 155143449 155143449 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014892.3 +1 validated p.T611M 0.469 116 0% 40 37.5% - - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL TIAM2 26230 genome.wustl.edu 37 6 155458330 155458330 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012454.3 +1 reviewed p.G405D 0.996 65 0% 56 41.1% - - possibly_damaging(0.703) deleterious(0.02) deleterious(0.635) NULL TIAM2 26230 genome.wustl.edu 37 6 155486446 155486446 + Missense_Mutation SNP C C G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012454.3 +1 reviewed p.T755S 1.000 114 0% 68 41.2% - - benign(0.002) tolerated(1) - NULL TIAM2 26230 genome.wustl.edu 37 6 155565811 155565811 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012454.3 +1 reviewed p.S1146N 1.000 229 0% 210 29% - - probably_damaging(0.999) tolerated(1) deleterious(0.490) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) NOX3 50508 genome.wustl.edu 37 6 155750057 155750057 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015718.2 -1 reviewed p.T339I 1.000 32 0% 22 40.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FAD_binding_8,superfamily_Riboflavin_synthase_like_b-brl ARID1B 57492 genome.wustl.edu 37 6 157527495 157527495 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017519.2 +1 validated p.D1722 0.000 119 1.7% 70 41.4% - - - - - NULL SYNJ2 8871 genome.wustl.edu 37 6 158487658 158487658 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003898.3 +1 reviewed p.D570N 0.115 21 0% 36 44.4% - - benign(0.103) tolerated(0.11) neutral(0.280) HMMSmart_SM00128,HMMPfam_Exo_endo_phos,superfamily_DNase I-like SERAC1 84947 genome.wustl.edu 37 6 158535892 158535892 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032861.3 -1 validated p.R538H 0.974 146 0% 54 38.9% - - benign(0.001) tolerated(0.62) neutral(0.004) superfamily_alpha/beta-Hydrolases TULP4 56995 genome.wustl.edu 37 6 158850873 158850873 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020245.3 +1 validated p.E163K 1.000 228 0% 116 37.9% - - probably_damaging(0.996) deleterious(0.02) deleterious(0.845) HMMSmart_SM00320,superfamily_WD40 repeat-like TMEM181 57583 genome.wustl.edu 37 6 159006376 159006376 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020823.1 +1 validated p.V237 0.001 61 0% 61 34.4% - - - - - NULL TMEM181 57583 genome.wustl.edu 37 6 159029399 159029399 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020823.1 +1 validated p.S373R 1.000 193 0% 220 12.3% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL SYTL3 94120 genome.wustl.edu 37 6 159178312 159178312 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001009991.2 +1 validated p.A335T 0.983 25 0% 54 74.1% - - benign(0) tolerated(0.1) neutral(0.286) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) RSPH3 83861 genome.wustl.edu 37 6 159401884 159401884 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031924.4 -1 validated p.R403C 1.000 212 0% 94 42.6% - - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_Radial_spoke_3 FNDC1 84624 genome.wustl.edu 37 6 159644653 159644653 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032532.2 +1 validated p.K287T 0.992 354 0% 284 36.6% - - unknown(0) tolerated(1) - HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like FNDC1 84624 genome.wustl.edu 37 6 159653074 159653074 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000329629 +1 known p.E406* 1.000 24 0% 41 39% - - unknown(0) deleterious(0) - NULL WTAP 9589 genome.wustl.edu 37 6 160169256 160169256 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004906.3 +1 reviewed p.P103S 1.000 139 0% 54 29.6% - - benign(0.414) tolerated(0.06) neutral(0.457) NULL IGF2R 3482 genome.wustl.edu 37 6 160468922 160468922 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000876.2 +1 reviewed p.E776 1.000 48 0% 31 48.4% - - - - - HMMPfam_CIMR,superfamily_Mannose 6-phosphate receptor domain SLC22A1 6580 genome.wustl.edu 37 6 160543236 160543236 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003057.2 +1 reviewed p.R90H 0.132 30 0% 45 51.1% - - probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL SLC22A2 6582 genome.wustl.edu 37 6 160662519 160662519 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003058.2 -1 reviewed p.P496 1.000 53 0% 15 40% - - - - - superfamily_MFS general substrate transporter SLC22A2 6582 genome.wustl.edu 37 6 160664675 160664675 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003058.2 -1 reviewed p.R403H 0.995 82 0% 21 28.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_SUGAR_TRANSPORT_1,superfamily_MFS general substrate transporter SLC22A2 6582 genome.wustl.edu 37 6 160679514 160679514 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003058.2 -1 reviewed p.Y92 0.982 34 0% 38 44.7% - - - - - NULL SLC22A2 6582 genome.wustl.edu 37 6 160679775 160679775 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003058.2 -1 reviewed p.V5 1.000 6 0.000 12 0.500 - - - - - NULL LPA 4018 genome.wustl.edu 37 6 160968864 160968864 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005577.2 -1 reviewed p.T1754M 0.529 188 0% 111 32.4% - - possibly_damaging(0.735) tolerated(0.17) neutral(0.328) HMMPfam_Kringle,HMMSmart_SM00130,superfamily_Kringle-like MAP3K4 4216 genome.wustl.edu 37 6 161470059 161470059 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005922.2 +1 reviewed p.T252M 0.001 68 0% 17 47.1% - - possibly_damaging(0.844) tolerated(0.09) deleterious(0.620) NULL AGPAT4 56895 genome.wustl.edu 37 6 161560485 161560485 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020133.2 -1 reviewed p.T337 1.000 29 0% 73 39.7% - - - - - NULL LOC100129958 100129958 genome.wustl.edu 37 6 162989702 162989702 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_001719102.1 +1 model p.E63 1.000 20 0% 14 42.9% - - - - - HMMPfam_Filament C6orf118 168090 genome.wustl.edu 37 6 165715646 165715646 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144980.3 -1 validated p.D55 0.381 104 0% 114 36.8% - - - - - NULL C6orf118 168090 genome.wustl.edu 37 6 165715724 165715724 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144980.3 -1 validated p.H29 0.011 53 0% 64 35.9% - - - - - NULL CCR6 1235 genome.wustl.edu 37 6 167549746 167549746 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004367.5 +1 reviewed p.D10N 0.000 281 0% 320 35.9% - - benign(0.001) tolerated(0.33) neutral(0.024) superfamily_SSF81321 CCR6 1235 genome.wustl.edu 37 6 167549850 167549850 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004367.5 +1 reviewed p.F44L 0.953 316 0% 312 31.4% - - possibly_damaging(0.924) deleterious(0.01) deleterious(0.778) superfamily_SSF81321 CCR6 1235 genome.wustl.edu 37 6 167550575 167550575 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004367.5 +1 reviewed p.R286Q 0.000 239 0% 214 32.7% - - benign(0.242) tolerated(0.42) neutral(0.038) HMMPfam_7tm_1,superfamily_SSF81321 GPR31 2853 genome.wustl.edu 37 6 167570727 167570727 + Missense_Mutation SNP G G C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005299.2 -1 validated p.A198G 0.000 38 0% 39 20.5% - - benign(0.044) tolerated(0.5) neutral(0.013) HMMPfam_7tm_1,superfamily_SSF81321 TTLL2 83887 genome.wustl.edu 37 6 167754339 167754339 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031949.4 +1 validated p.G317 0.001 157 0% 150 38.7% - - - - - HMMPfam_TTL,superfamily_Glutathione synthetase ATP-binding domain-like TCP10 6953 genome.wustl.edu 37 6 167786722 167786722 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004610.3 -1 validated p.G306S 0.000 220 0% 280 34.6% - - benign(0) deleterious(0) neutral(0.445) NULL MLLT4 4301 genome.wustl.edu 37 6 168312007 168312007 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001040001.1 +1 validated p.S624R 1.000 175 0% 69 42% - - probably_damaging(0.999) tolerated(0.24) deleterious(0.528) NULL MLLT4 4301 genome.wustl.edu 37 6 168352651 168352651 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000507704 +1 known p.S23L 0.222 43 0% 45 28.9% - - - - - NULL KIF25 3834 genome.wustl.edu 37 6 168445511 168445511 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030615.2 +1 reviewed p.G330 0.893 158 0% 279 37.6% - - - - - HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases FRMD1 79981 genome.wustl.edu 37 6 168457899 168457899 + Missense_Mutation SNP C C T rs113328475 TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024919.3 -1 validated p.A510T 0.003 24 0% 68 38.2% - - possibly_damaging(0.67) deleterious(0.02) deleterious(0.621) NULL DACT2 168002 genome.wustl.edu 37 6 168708916 168708916 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_214462.3 -1 validated p.V507 0.000 42 0% 81 42% - - - - - NULL THBS2 7058 genome.wustl.edu 37 6 169632779 169632779 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003247.2 -1 reviewed p.A638S 0.999 29 0% 62 29% - - benign(0) tolerated(0.4) neutral(0.016) HMMSmart_EGF THBS2 7058 genome.wustl.edu 37 6 169634857 169634857 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003247.2 -1 reviewed p.Q541H 1.000 30 0% 73 35.6% - - possibly_damaging(0.791) deleterious(0.04) deleterious(0.645) HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1 C6orf70 55780 genome.wustl.edu 37 6 170159137 170159137 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018341.1 +1 validated p.A194V 0.932 185 0% 172 14.5% - - benign(0.212) tolerated(0.79) neutral(0.022) NULL C6orf70 55780 genome.wustl.edu 37 6 170160022 170160022 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018341.1 +1 validated p.R232C 0.948 357 0% 269 40.9% - - probably_damaging(1) tolerated(0.05) deleterious(0.845) NULL DLL1 28514 genome.wustl.edu 37 6 170597824 170597824 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005618.3 -1 reviewed p.L135 0.001 566 0.2% 968 32.6% - - - - - NULL FAM120B 84498 genome.wustl.edu 37 6 170627482 170627482 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032448.1 +1 provisional p.A335V 0.129 100 0% 61 34.4% - - benign(0.294) tolerated(0.1) neutral(0.377) NULL PSMB1 5689 genome.wustl.edu 37 6 170844377 170844377 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002793.3 -1 reviewed p.D219 0.059 159 0% 51 23.5% - - - - - HMMPfam_Proteasome,superfamily_SSF56235 PRKAR1B 5575 genome.wustl.edu 37 7 618896 618896 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000400758 -1 known p.R157Q 0.004 52 0% 97 36.1% - - - - - HMMPfam_cNMP_binding,HMMSmart_SM00100,PatternScan_CNMP_BINDING_1,superfamily_cAMP-binding domain-like PRKAR1B 5575 genome.wustl.edu 37 7 635796 635796 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002735.2 -1 validated p.R232Q 1.000 29 0% 61 36.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_cNMP_binding,HMMSmart_cNMP,superfamily_cNMP_binding HEATR2 54919 genome.wustl.edu 37 7 801458 801458 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000440747 +1 known p.R315C 0.000 61 0% 124 38.7% - - - - - superfamily_ARM repeat SUN1 23353 genome.wustl.edu 37 7 905627 905627 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001130965.2 +1 reviewed p.E635K 1.000 117 0% 218 12.8% - - benign(0.147) tolerated(0.27) neutral(0.046) NULL MICALL2 79778 genome.wustl.edu 37 7 1478529 1478529 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182924.3 -1 validated p.R690Q 0.000 37 0% 87 35.6% - - probably_damaging(0.971) tolerated(0.34) neutral(0.436) NULL INTS1 26173 genome.wustl.edu 37 7 1517490 1517490 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080453.2 -1 validated p.A1571 0.000 19 0% 57 36.8% - - - - - NULL INTS1 26173 genome.wustl.edu 37 7 1542704 1542704 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080453.2 -1 validated p.A61V 0.995 73 0% 208 33.7% - - possibly_damaging(0.575) deleterious(0.02) deleterious(0.580) NULL MAFK 7975 genome.wustl.edu 37 7 1579710 1579710 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002360.3 +1 validated p.R57H 1.000 17 0% 39 30.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_bZIP_Maf,HMMSmart_SM00338,superfamily_A DNA-binding domain in eukaryotic transcription factors ELFN1 392617 genome.wustl.edu 37 7 1785460 1785460 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001128636.2 +1 validated p.P410S 0.975 28 0% 51 29.4% - - - - - NULL EIF3B 8662 genome.wustl.edu 37 7 2402723 2402723 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001037283.1 +1 validated p.D277 0.979 116 0.9% 109 39.4% - - - - - NULL EIF3B 8662 genome.wustl.edu 37 7 2406634 2406634 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001037283.1 +1 validated p.S453P 1.000 329 0% 340 39.7% - - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain ENSG00000231761 0 genome.wustl.edu 37 7 2434451 2434451 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000423305 -1 known p.G45D 0.054 26 0% 62 45.2% - - - - - NULL IQCE 23288 genome.wustl.edu 37 7 2617909 2617909 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152558.3 +1 validated p.M167V 0.826 39 0% 82 35.4% - - possibly_damaging(0.448) tolerated(0.11) neutral(0.418) NULL IQCE 23288 genome.wustl.edu 37 7 2622273 2622273 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152558.3 +1 validated p.D230 0.720 22 0% 65 41.5% - - - - - NULL TTYH3 80727 genome.wustl.edu 37 7 2696037 2696037 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025250.2 +1 reviewed p.Y373 1.000 50 0% 116 33.6% - - - - - HMMPfam_Tweety AMZ1 155185 genome.wustl.edu 37 7 2748733 2748733 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_133463.1 +1 provisional p.R209Q 1.000 30 0% 35 20% - - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL SDK1 221935 genome.wustl.edu 37 7 4247782 4247782 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152744.3 +1 validated p.L1756I 0.995 66 0% 117 41% - - possibly_damaging(0.68) deleterious(0) deleterious(0.687) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III FOXK1 221937 genome.wustl.edu 37 7 4798686 4798686 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001037165.1 +1 validated p.A417T 1.000 10 0% 37 43.2% - - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL FOXK1 221937 genome.wustl.edu 37 7 4799075 4799075 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001037165.1 +1 validated p.V515 0.078 8 0.000 27 0.519 - - - - - NULL FOXK1 221937 genome.wustl.edu 37 7 4800694 4800694 + Splice_Site SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001037165.1 +1 validated e8-1 0.900 22 0% 39 51.3% - - - - - - KIAA0415 9907 genome.wustl.edu 37 7 4829516 4829516 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014855.1 +1 validated p.S587 0.996 7 0.000 13 0.462 - - - - - NULL RADIL 55698 genome.wustl.edu 37 7 4843461 4843461 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000423090 -1 known p.H47Y 0.000 18 0% 28 28.6% - - - - - NULL PAPOLB 56903 genome.wustl.edu 37 7 4900243 4900243 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020144.4 -1 validated p.R400Q 1.000 441 0% 625 36.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PAP_RNA-bind,superfamily_PAP_C PAPOLB 56903 genome.wustl.edu 37 7 4900782 4900782 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020144.4 -1 validated p.N220K 1.000 129 0% 228 35.5% - - probably_damaging(0.986) deleterious(0.01) deleterious(0.840) HMMPfam_PAP_central,superfamily_SSF81301,superfamily_SSF81631 PAPOLB 56903 genome.wustl.edu 37 7 4901383 4901383 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020144.4 -1 validated p.R20H 0.130 12 0% 33 39.4% - - benign(0.011) tolerated(1) neutral(0.001) HMMPfam_PAP_central SLC29A4 222962 genome.wustl.edu 37 7 5327481 5327481 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001040661.1 +1 reviewed p.P12S 0.551 21 0% 55 30.9% - - benign(0.014) tolerated(0.11) neutral(0.272) NULL FBXL18 80028 genome.wustl.edu 37 7 5531017 5531017 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000297035 -1 known p.A174T 0.118 14 0% 34 52.9% - - unknown(0) - - NULL CCZ1 51622 genome.wustl.edu 37 7 5944829 5944829 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015622.5 +1 validated p.F209 1.000 281 0% 298 21.1% - - - - - HMMPfam_DUF2049 PMS2 5395 genome.wustl.edu 37 7 6017238 6017238 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000535.5 -1 reviewed p.S809Y 1.000 70 1.4% 94 36.2% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_MutL_C PMS2 5395 genome.wustl.edu 37 7 6026664 6026664 + Missense_Mutation SNP G G A rs63750534 TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000535.5 -1 reviewed p.R578C 0.342 59 1.7% 61 31.1% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL PMS2 5395 genome.wustl.edu 37 7 6037047 6037047 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000535.5 -1 reviewed p.S238I 1.000 57 0% 46 43.5% - - possibly_damaging(0.81) deleterious(0.02) deleterious(0.688) HMMPfam_DNA_mis_repair,superfamily_Ribosomal protein S5 domain 2-like AIMP2 7965 genome.wustl.edu 37 7 6054925 6054925 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006303.3 +1 validated p.A95V 0.675 111 0% 125 33.6% - - benign(0.221) tolerated(0.18) neutral(0.078) NULL USP42 84132 genome.wustl.edu 37 7 6194612 6194612 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032172.2 +1 validated p.D1143Y 0.001 29 0% 54 31.5% - - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL USP42 84132 genome.wustl.edu 37 7 6196639 6196639 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032172.2 +1 validated p.R1299Q 0.199 75 0% 124 26.6% - - benign(0.002) deleterious(0) neutral(0.445) NULL CYTH3 9265 genome.wustl.edu 37 7 6210864 6210864 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004227.3 -1 reviewed p.C177* 1.000 43 0% 93 36.6% - - - - - HMMPfam_Sec7,HMMSmart_SM00222,superfamily_Sec7 domain CYTH3 9265 genome.wustl.edu 37 7 6213288 6213288 + Missense_Mutation SNP A A T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004227.3 -1 reviewed p.L149I 0.985 104 0% 162 24.7% - - probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_Sec7,HMMSmart_SM00222,superfamily_Sec7 domain DAGLB 221955 genome.wustl.edu 37 7 6449537 6449537 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_139179.3 -1 validated p.S650 0.005 20 0% 46 28.3% - - - - - NULL GRID2IP 392862 genome.wustl.edu 37 7 6541439 6541439 + Silent SNP G G A rs144875801 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001145118.1 -1 validated p.S1124 0.072 22 0% 70 15.7% - - - - - HMMSmart_FH2,HMMPfam_FH2,superfamily_FH2_actin_bd GRID2IP 392862 genome.wustl.edu 37 7 6544452 6544452 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001145118.1 -1 validated p.I894 1.000 27 0% 66 48.5% - - - - - HMMSmart_FH2,HMMPfam_FH2,superfamily_FH2_actin_bd C7orf26 79034 genome.wustl.edu 37 7 6647624 6647624 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024067.2 +1 predicted p.Q394H 0.996 5 0.000 14 0.357 - - possibly_damaging(0.928) deleterious(0.05) deleterious(0.721) NULL ENSG00000198580 0 genome.wustl.edu 37 7 6714610 6714610 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000328239 +1 known p.A4 0.000 21 0% 20 65% - - - - - HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ENSG00000198580 0 genome.wustl.edu 37 7 6715444 6715444 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000401847 +1 known p.R236I 1.000 31 0% 29 34.5% - - possibly_damaging(0.944) tolerated(0.07) deleterious(0.708) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF12 7559 genome.wustl.edu 37 7 6731513 6731513 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016265.3 -1 reviewed p.E354* 0.839 149 0% 51 35.3% - - - - - HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 CCZ1B 221960 genome.wustl.edu 37 7 6851603 6851603 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198097.2 -1 predicted p.L312F 1.000 279 0% 187 41.7% - - possibly_damaging(0.553) tolerated(0.6) neutral(0.193) HMMPfam_DUF2049 CCZ1B 221960 genome.wustl.edu 37 7 6854421 6854421 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198097.2 -1 predicted p.L252I 0.998 246 0% 190 43.2% - - probably_damaging(0.972) tolerated(0.09) deleterious(0.710) HMMPfam_DUF2049 COL28A1 340267 genome.wustl.edu 37 7 7529079 7529079 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001037763.2 -1 validated p.G369C 1.000 89 0% 39 43.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL MIOS 54468 genome.wustl.edu 37 7 7629050 7629050 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_019005.3 +1 validated p.I633 0.957 139 0% 50 50% - - - - - NULL LOC340268 340268 genome.wustl.edu 37 7 9766154 9766154 + RNA SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XR_041608.1 +1 model NULL 0.997 36 0% 55 32.7% - - - - - - LOC340268 340268 genome.wustl.edu 37 7 9766620 9766620 + RNA SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XR_041608.1 +1 model NULL 0.288 79 0% 138 32.6% - - - - - - PHF14 9678 genome.wustl.edu 37 7 11022400 11022400 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000303905 +1 known p.A172T 0.000 158 0% 77 37.7% - - unknown(0) tolerated(0.76) - NULL PHF14 9678 genome.wustl.edu 37 7 11022706 11022706 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000303905 +1 known p.K274E 1.000 118 0% 41 39% - - possibly_damaging(0.945) deleterious(0.05) deleterious(0.735) NULL THSD7A 221981 genome.wustl.edu 37 7 11418731 11418731 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015204.2 -1 validated p.R1589 1.000 152 0% 40 27.5% - - - - - NULL THSD7A 221981 genome.wustl.edu 37 7 11501652 11501652 + Silent SNP C C T rs7807697 byCluster;byFrequency;by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015204.2 -1 validated p.A829 0.258 110 0% 16 37.5% - - - - - HMMPfam_TSP_1,HMMSmart_SM00209 THSD7A 221981 genome.wustl.edu 37 7 11676110 11676110 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015204.2 -1 validated p.A223 0.031 71 1.4% 67 32.8% - - - - - HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat TMEM106B 54664 genome.wustl.edu 37 7 12269335 12269335 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001134232.1 +1 validated p.Y158D 1.000 68 0% 22 27.3% - - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_DUF1356 VWDE 221806 genome.wustl.edu 37 7 12412601 12412601 + Splice_Site SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001135924.1 -1 provisional e10+2 1.000 122 0% 50 36% - - - - - - VWDE 221806 genome.wustl.edu 37 7 12419132 12419132 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001135924.1 -1 provisional p.E284K 0.998 103 0% 46 34.8% - - benign(0.004) deleterious(0.05) neutral(0.345) NULL AGR2 10551 genome.wustl.edu 37 7 16839434 16839434 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006408.3 -1 validated p.K88N 1.000 252 0% 153 29.4% - - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) superfamily_Thioredoxin-like AHR 196 genome.wustl.edu 37 7 17375410 17375410 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001621.4 +1 validated p.T387I 1.000 74 0% 59 45.8% - - possibly_damaging(0.819) deleterious(0) deleterious(0.754) HMMSmart_SM00086,superfamily_PYP-like sensor domain (PAS domain) TWISTNB 221830 genome.wustl.edu 37 7 19738018 19738018 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001002926.1 -1 validated p.R313K 0.924 185 0% 122 36.9% - - benign(0.017) tolerated(0.08) neutral(0.300) NULL ABCB5 340273 genome.wustl.edu 37 7 20698711 20698711 + Nonstop_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000443026 +1 known p.*132L 0.001 217 0% 153 37.3% - - - - - NULL ABCB5 340273 genome.wustl.edu 37 7 20738141 20738141 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178559.5 +1 validated p.V263L 0.009 182 0% 62 33.9% - - benign(0.001) tolerated(0.85) neutral(0.001) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain SP8 221833 genome.wustl.edu 37 7 20824396 20824396 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182700.4 -1 validated p.R347H 1.000 4 0.000 10 0.400 - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SP4 6671 genome.wustl.edu 37 7 21469154 21469154 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003112.3 +1 validated p.S124L 0.997 92 0% 112 33.9% - - unknown(0) - - NULL DNAH11 8701 genome.wustl.edu 37 7 21639471 21639471 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003777.3 +1 reviewed p.D912Y 1.000 167 0% 56 25% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL DNAH11 8701 genome.wustl.edu 37 7 21654855 21654855 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003777.3 +1 reviewed p.L1326F 1.000 268 0% 82 42.7% - - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_DHC_N2 DNAH11 8701 genome.wustl.edu 37 7 21789345 21789345 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003777.3 +1 reviewed p.T2915N 0.984 152 0% 38 28.9% - - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH11 8701 genome.wustl.edu 37 7 21892171 21892171 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003777.3 +1 reviewed p.E3668D 0.996 138 0% 78 14.1% - - probably_damaging(0.956) tolerated(0.16) neutral(0.459) NULL DNAH11 8701 genome.wustl.edu 37 7 21920389 21920389 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003777.3 +1 reviewed p.A4096T 1.000 128 0% 66 24.2% - - benign(0.164) deleterious(0) neutral(0.460) HMMPfam_Dynein_heavy KLHL7 55975 genome.wustl.edu 37 7 23213674 23213674 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001031710.2 +1 reviewed p.N506 0.992 304 0% 187 35.3% - - - - - HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central GPNMB 10457 genome.wustl.edu 37 7 23286409 23286409 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000435486 +1 known p.C25* 0.000 88 0% 144 37.5% - - - - - NULL MALSU1 115416 genome.wustl.edu 37 7 23340465 23340465 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138446.1 +1 predicted p.T88 0.000 148 0% 141 40.4% - - - - - NULL STK31 56164 genome.wustl.edu 37 7 23768848 23768848 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031414.3 +1 reviewed p.E155* 1.000 122 0% 69 27.5% - - - - - NULL MPP6 51678 genome.wustl.edu 37 7 24703278 24703278 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016447.2 +1 provisional p.L241V 0.369 235 0% 81 34.6% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_SH3_2 C7orf31 136895 genome.wustl.edu 37 7 25175680 25175680 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138811.3 -1 validated p.L562I 0.000 130 0% 70 34.3% - - benign(0.189) tolerated(0.12) neutral(0.278) NULL C7orf31 136895 genome.wustl.edu 37 7 25175905 25175905 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138811.3 -1 validated p.P487S 0.059 170 0% 90 36.7% - - benign(0.002) tolerated(0.5) neutral(0.010) NULL NFE2L3 9603 genome.wustl.edu 37 7 26224678 26224678 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004289.6 +1 reviewed p.E454* 0.521 222 0% 120 30% - - - - - NULL HNRNPA2B1 3181 genome.wustl.edu 37 7 26235512 26235512 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031243.2 -1 reviewed p.R238C 1.000 177 0% 186 32.8% - - unknown(0) tolerated(0.06) - NULL CBX3 11335 genome.wustl.edu 37 7 26246091 26246091 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007276.3 +1 reviewed p.G43E 1.000 252 0% 259 29% - - possibly_damaging(0.942) deleterious(0) deleterious(0.832) HMMPfam_Chromo,HMMSmart_SM00298,superfamily_Chromo domain-like SNX10 29887 genome.wustl.edu 37 7 26404214 26404214 + Silent SNP C C T rs192013192 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013322.2 +1 reviewed p.F57 1.000 193 0% 56 30.4% - - - - - HMMPfam_PX,HMMSmart_PX,superfamily_PX HOXA2 3199 genome.wustl.edu 37 7 27141923 27141923 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006735.3 -1 reviewed p.R66H 1.000 32 0% 71 31% - - possibly_damaging(0.845) deleterious(0.01) deleterious(0.730) NULL HOXA7 3204 genome.wustl.edu 37 7 27195886 27195886 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006896.3 -1 reviewed p.C93 1.000 9 0.000 35 0.314 - - - - - NULL ENSG00000248357 0 genome.wustl.edu 37 7 27497900 27497900 + RNA SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000506075 +1 novel NULL 1.000 70 0% 99 36.4% - - - - - - TAX1BP1 8887 genome.wustl.edu 37 7 27832691 27832691 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006024.5 +1 validated p.T424P 0.889 53 0% 39 17.9% - - benign(0.119) tolerated(0.26) neutral(0.044) HMMPfam_CALCOCO1 ZNRF2 223082 genome.wustl.edu 37 7 30363282 30363282 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_147128.3 +1 validated p.K165T 1.000 165 0% 29 37.9% - - possibly_damaging(0.703) deleterious(0.05) deleterious(0.598) NULL GGCT 79017 genome.wustl.edu 37 7 30540277 30540277 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000426081 -1 known p.A7V 1.000 160 0% 129 45% - - - - - NULL ADCYAP1R1 117 genome.wustl.edu 37 7 31124973 31124973 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001118.3 +1 reviewed p.S195 0.241 83 0% 73 37% - - - - - HMMPfam_7tm_2,superfamily_Family A G protein-coupled receptor-like NEUROD6 63974 genome.wustl.edu 37 7 31378167 31378167 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022728.2 -1 provisional p.A239V 0.992 87 0% 121 42.1% - - benign(0.021) tolerated(0.18) neutral(0.057) NULL AVL9 23080 genome.wustl.edu 37 7 32582824 32582824 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015060.1 +1 provisional p.K55N 0.998 139 0% 75 28% - - probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_Avl9 FKBP9 11328 genome.wustl.edu 37 7 33016064 33016064 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007270.3 +1 validated p.R219H 1.000 408 3.9% 149 29.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FKBP_C,superfamily_SSF54534 BBS9 27241 genome.wustl.edu 37 7 33407445 33407445 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198428.2 +1 reviewed p.R587Q 0.816 362 0% 165 46.7% - - benign(0.001) tolerated(0.59) neutral(0.004) NULL BMPER 168667 genome.wustl.edu 37 7 34094775 34094775 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_133468.3 +1 validated p.D263Y 1.000 95 0% 42 28.6% - - possibly_damaging(0.637) deleterious(0.01) deleterious(0.629) HMMPfam_VWC,HMMSmart_VWC BMPER 168667 genome.wustl.edu 37 7 34118742 34118742 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_133468.3 +1 validated p.A451V 0.871 11 0% 17 29.4% - - benign(0) tolerated(0.3) neutral(0.029) HMMPfam_VWD,HMMSmart_VWD TBX20 57057 genome.wustl.edu 37 7 35288340 35288340 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001077653.2 -1 reviewed p.H165R 1.000 41 0% 31 12.9% - - possibly_damaging(0.527) deleterious(0) deleterious(0.623) HMMPfam_T-box,HMMSmart_TBOX,superfamily_P53_like_DNA_bnd HERPUD2 64224 genome.wustl.edu 37 7 35734238 35734238 + Splice_Site SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022373.4 -1 validated e1-1 0.004 10 0% 13 30.8% - - - - - - SEPT7 989 genome.wustl.edu 37 7 35922132 35922132 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001788.4 +1 reviewed p.Y223 1.000 70 0% 36 25% - - - - - HMMPfam_Septin,superfamily_P-loop containing nucleoside triphosphate hydrolases ANLN 54443 genome.wustl.edu 37 7 36466638 36466638 + Splice_Site SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018685.2 +1 validated e20+1 1.000 86 0% 27 33.3% - - - - - - EPDR1 54749 genome.wustl.edu 37 7 37960254 37960254 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017549.3 +1 reviewed p.S25R 0.380 29 0% 56 30.4% - - unknown(0) - - NULL TRGC2 6967 genome.wustl.edu 37 7 38279709 38279709 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000436911 -1 known p.S162F 0.027 453 0% 180 46.1% - - - - - NULL TRGC2 6967 genome.wustl.edu 37 7 38279765 38279765 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000436911 -1 known p.I143M 0.000 465 0% 176 15.3% - - benign(0.001) tolerated(0.23) neutral(0.042) NULL TARP 445347 genome.wustl.edu 37 7 38299829 38299829 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001003806.1 -1 reviewed p.T66A 0.000 313 0.3% 105 39% - - benign(0) tolerated(0.1) neutral(0.286) NULL TRGV3 6976 genome.wustl.edu 37 7 38398118 38398118 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000390346 -1 known p.D117N 0.189 61 0% 33 12.1% - - possibly_damaging(0.905) deleterious(0.02) deleterious(0.742) HMMPfam_V-set,superfamily_Immunoglobulin TRGV3 6976 genome.wustl.edu 37 7 38398260 38398260 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000390346 -1 known p.D69 0.000 156 0% 79 41.8% - - - - - HMMPfam_V-set,superfamily_Immunoglobulin TRGV3 6976 genome.wustl.edu 37 7 38398296 38398296 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000390346 -1 known p.Q57H 0.011 150 0% 80 28.7% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_V-set,superfamily_Immunoglobulin POU6F2 11281 genome.wustl.edu 37 7 39504031 39504031 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007252.3 +1 reviewed p.R608C 1.000 96 0% 47 12.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like INHBA 3624 genome.wustl.edu 37 7 41739802 41739802 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002192.2 -1 reviewed p.A57 0.973 44 0% 44 34.1% - - - - - HMMPfam_TGFb_propeptide GLI3 2737 genome.wustl.edu 37 7 42005870 42005870 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000168.5 -1 reviewed p.A934V 1.000 9 0.000 22 0.455 - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL GLI3 2737 genome.wustl.edu 37 7 42079730 42079730 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000168.5 -1 reviewed p.T312M 1.000 185 0% 67 11.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL HECW1 23072 genome.wustl.edu 37 7 43503260 43503260 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015052.3 +1 validated p.Y885H 1.000 70 0% 83 37.3% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL URGCP 55665 genome.wustl.edu 37 7 43918377 43918377 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001077663.1 -1 validated p.L229M 1.000 71 0% 76 40.8% - - possibly_damaging(0.947) deleterious(0) deleterious(0.835) NULL POLD2 5425 genome.wustl.edu 37 7 44155479 44155479 + Missense_Mutation SNP A A T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001127218.1 -1 validated p.S345T 0.909 100 0% 167 37.1% - - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMPfam_DNA_pol_E_B POLD2 5425 genome.wustl.edu 37 7 44156578 44156578 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001127218.1 -1 validated p.G206 0.045 45 0% 86 33.7% - - - - - HMMPfam_DNA_pol_E_B NPC1L1 29881 genome.wustl.edu 37 7 44575542 44575542 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013389.2 -1 reviewed p.R627H 1.000 67 0% 89 36% - - probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_Patched,superfamily_SSF82866 NPC1L1 29881 genome.wustl.edu 37 7 44579036 44579036 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013389.2 -1 reviewed p.K320N 0.000 53 0% 88 47.7% - - benign(0.282) tolerated(0.22) neutral(0.129) NULL NPC1L1 29881 genome.wustl.edu 37 7 44579873 44579873 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013389.2 -1 reviewed p.K41N 0.010 87 0% 112 37.5% - - benign(0.027) tolerated(0.23) neutral(0.043) NULL OGDH 4967 genome.wustl.edu 37 7 44714049 44714049 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002541.3 +1 reviewed p.K276N 1.000 131 0% 84 34.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_E1_dh,superfamily_SSF52518 OGDH 4967 genome.wustl.edu 37 7 44747302 44747302 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002541.3 +1 reviewed p.L973R 1.000 33 0% 39 38.5% - - possibly_damaging(0.743) deleterious(0) deleterious(0.717) NULL ZMIZ2 83637 genome.wustl.edu 37 7 44805114 44805114 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031449.3 +1 validated p.G726 0.000 11 0% 20 55% - - - - - NULL MYO1G 64005 genome.wustl.edu 37 7 45009017 45009017 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033054.2 -1 validated p.D523 0.833 59 0% 84 41.7% - - - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases NACAD 23148 genome.wustl.edu 37 7 45120280 45120280 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000258775 -1 known p.A1545T 1.000 83 0% 144 44.4% - - possibly_damaging(0.93) deleterious(0) deleterious(0.821) NULL ADCY1 107 genome.wustl.edu 37 7 45662332 45662332 + Missense_Mutation SNP A A T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021116.2 +1 reviewed p.E337V 1.000 88 0% 72 33.3% - - benign(0.125) deleterious(0.01) neutral(0.416) HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase ADCY1 107 genome.wustl.edu 37 7 45701757 45701757 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021116.2 +1 reviewed p.M517L 1.000 99 0% 83 32.5% - - benign(0.108) tolerated(0.18) neutral(0.065) NULL ADCY1 107 genome.wustl.edu 37 7 45750179 45750179 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021116.2 +1 reviewed p.Q995H 1.000 51 0% 63 52.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase,PatternScan_GUANYLATE_CYCLASE_1 IGFBP1 3484 genome.wustl.edu 37 7 45931603 45931603 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000596.2 +1 reviewed p.I198L 0.006 91 0% 127 41.7% - - benign(0.001) tolerated(1) - HMMPfam_Thyroglobulin_1,superfamily_Thyroglobulin type-1 domain PKD1L1 168507 genome.wustl.edu 37 7 47842857 47842857 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138295.2 -1 reviewed p.S2638Y 0.172 178 0% 127 34.6% - - possibly_damaging(0.926) deleterious(0.04) deleterious(0.724) HMMPfam_PKD_channel PKD1L1 168507 genome.wustl.edu 37 7 47882723 47882723 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138295.2 -1 reviewed p.V1761A 0.000 98 1% 85 30.6% - - benign(0.028) tolerated(0.07) neutral(0.321) NULL PKD1L1 168507 genome.wustl.edu 37 7 47906070 47906070 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138295.2 -1 reviewed p.R1347* 0.053 156 0% 67 23.9% - - - - - NULL ABCA13 154664 genome.wustl.edu 37 7 48314424 48314424 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152701.3 +1 reviewed p.H1721Y 0.407 96 0% 31 32.3% - - probably_damaging(0.954) - - NULL ABCA13 154664 genome.wustl.edu 37 7 48427540 48427540 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000453246 +1 known p.E85* 0.004 219 0% 78 34.6% - - possibly_damaging(0.658) - - NULL ZPBP 11055 genome.wustl.edu 37 7 50057846 50057846 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007009.2 -1 validated p.R258I 0.085 151 0% 51 49% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sp38 SEPT14 346288 genome.wustl.edu 37 7 55873076 55873076 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_207366.2 -1 validated p.E332* 1.000 211 0% 162 39.5% - - - - - NULL ZNF713 349075 genome.wustl.edu 37 7 55991329 55991329 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182633.1 +1 provisional p.A69T 0.671 123 0% 61 26.2% - - benign(0) tolerated(0.48) neutral(0.011) HMMSmart_KRAB,superfamily_Krueppel-associated_box PHKG1 5260 genome.wustl.edu 37 7 56148781 56148781 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006213.3 -1 reviewed p.A377D 0.999 19 0% 47 46.8% - - possibly_damaging(0.902) tolerated(0.11) deleterious(0.629) NULL PHKG1 5260 genome.wustl.edu 37 7 56156593 56156593 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006213.3 -1 reviewed p.Q14 1.000 80 0% 123 10.6% - - - - - NULL LOC441228 441228 genome.wustl.edu 37 7 56358882 56358882 + RNA SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XR_016387.3 +1 model NULL 0.981 322 0% 335 39.7% - - - - - - ZNF479 90827 genome.wustl.edu 37 7 57187668 57187668 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033273.1 -1 provisional p.R485I 0.975 139 0% 36 41.7% - - benign(0.001) tolerated(0.17) neutral(0.059) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF479 90827 genome.wustl.edu 37 7 57187827 57187827 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033273.1 -1 provisional p.T432N 0.999 203 0% 45 20% - - unknown(0) deleterious(0) - superfamily_SSF57667 ZNF716 441234 genome.wustl.edu 37 7 57529184 57529184 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000420713 +1 known p.L339 0.002 138 0% 42 47.6% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF679 168417 genome.wustl.edu 37 7 63726374 63726374 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153363.2 +1 validated p.D121 0.000 239 0% 67 40.3% - - - - - NULL ZNF680 340252 genome.wustl.edu 37 7 63981855 63981855 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178558.4 -1 validated p.R426I 0.956 68 0% 24 33.3% - - benign(0) tolerated(0.27) neutral(0.034) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF680 340252 genome.wustl.edu 37 7 63982191 63982191 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178558.4 -1 validated p.R314I 1.000 59 0% 15 33.3% - - benign(0.026) tolerated(0.21) neutral(0.045) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF107 51427 genome.wustl.edu 37 7 64167437 64167437 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001013746.1 +1 validated p.A252V 0.489 68 0% 45 22.2% - - possibly_damaging(0.921) deleterious(0.05) deleterious(0.716) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF107 51427 genome.wustl.edu 37 7 64167645 64167645 + Silent SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001013746.1 +1 validated p.I321 0.998 32 0% 17 47.1% - - - - - superfamily_SSF57667 ZNF107 51427 genome.wustl.edu 37 7 64167790 64167790 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001013746.1 +1 validated p.N370H 0.139 62 0% 41 39% - - benign(0.005) tolerated(0.44) neutral(0.013) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF107 51427 genome.wustl.edu 37 7 64168878 64168878 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001013746.1 +1 validated p.F732L 0.000 51 0% 36 25% - - benign(0) tolerated(0.35) neutral(0.021) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF138 7697 genome.wustl.edu 37 7 64291429 64291429 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000494380 +1 known p.K107T 0.052 111 0% 52 32.7% - - benign(0.007) deleterious(0) neutral(0.445) NULL ZNF273 10793 genome.wustl.edu 37 7 64389116 64389116 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021148.2 +1 reviewed p.F470L 0.000 65 0% 29 37.9% - - benign(0.065) tolerated(0.68) neutral(0.006) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF273 10793 genome.wustl.edu 37 7 64389223 64389223 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021148.2 +1 reviewed p.R506K 0.342 87 0% 39 41% - - benign(0) tolerated(0.58) neutral(0.005) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF117 51351 genome.wustl.edu 37 7 64439612 64439612 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015852.3 -1 validated p.E113K 0.003 175 0% 89 27% - - benign(0.018) tolerated(0.13) neutral(0.253) HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ERV3-1 2086 genome.wustl.edu 37 7 64451649 64451649 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001007253.3 -1 reviewed p.E586* 0.115 209 0% 69 30.4% - - - - - NULL GUSB 2990 genome.wustl.edu 37 7 65441067 65441067 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000181.3 -1 reviewed p.P283S 0.991 30 0% 40 25% - - benign(0.003) tolerated(0.33) neutral(0.024) HMMPfam_Glyco_hydro_2,superfamily_beta-Galactosidase/glucuronidase domain TYW1 55253 genome.wustl.edu 37 7 66463179 66463179 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018264.2 +1 validated p.T44 1.000 239 0% 284 30.6% - - - - - NULL AUTS2 26053 genome.wustl.edu 37 7 70228025 70228025 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015570.2 +1 validated p.Q304H 0.073 61 0% 93 36.6% - - benign(0.061) deleterious(0.02) neutral(0.387) NULL AUTS2 26053 genome.wustl.edu 37 7 70239081 70239081 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000443672 +1 known p.R160* 1.000 102 0% 54 35.2% - - probably_damaging(0.954) tolerated(0.11) deleterious(0.669) NULL WBSCR17 64409 genome.wustl.edu 37 7 70886016 70886016 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022479.1 +1 reviewed p.S296I 1.000 50 0% 33 36.4% - - benign(0.008) deleterious(0) neutral(0.445) HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases WBSCR17 64409 genome.wustl.edu 37 7 71130527 71130527 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022479.1 +1 reviewed p.V404 1.000 63 0% 29 44.8% - - - - - superfamily_Nucleotide-diphospho-sugar transferases WBSCR17 64409 genome.wustl.edu 37 7 71177119 71177119 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022479.1 +1 reviewed p.N595K 1.000 27 0% 38 39.5% - - benign(0.011) deleterious(0.01) neutral(0.406) superfamily_Ricin B-like lectins POM121 9883 genome.wustl.edu 37 7 72398940 72398940 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_172020.1 +1 reviewed p.G82D 1.000 227 0% 271 34.7% - - probably_damaging(0.998) deleterious(0.05) deleterious(0.820) NULL TRIM74 378108 genome.wustl.edu 37 7 72436494 72436494 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198853.1 -1 provisional p.S65 0.792 73 0% 132 11.4% - - - - - superfamily_RING/U-box NSUN5 55695 genome.wustl.edu 37 7 72719080 72719080 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_148956.2 -1 reviewed p.R172Q 0.226 145 0% 258 37.2% - - unknown(0) - - superfamily_SSF53335 FKBP6 8468 genome.wustl.edu 37 7 72743397 72743397 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003602.3 +1 reviewed p.R70S 0.975 538 0% 682 36.4% - - benign(0.044) tolerated(0.67) neutral(0.005) HMMPfam_FKBP_C,superfamily_SSF54534 BAZ1B 9031 genome.wustl.edu 37 7 72891321 72891321 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032408.3 -1 validated p.I824L 0.006 270 0% 263 40.7% - - benign(0.014) tolerated(0.36) neutral(0.021) NULL ABHD11 83451 genome.wustl.edu 37 7 73152037 73152037 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_148912.2 -1 reviewed p.G106V 1.000 62 0% 91 30.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Abhydrolase_1,superfamily_alpha/beta-Hydrolases WBSCR28 135886 genome.wustl.edu 37 7 73279466 73279466 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182504.3 +1 validated p.P72 0.001 49 0% 98 39.8% - - - - - NULL LIMK1 3984 genome.wustl.edu 37 7 73534960 73534960 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002314.2 +1 reviewed p.L539M 1.000 208 0% 279 38.4% - - possibly_damaging(0.894) deleterious(0) deleterious(0.796) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase GTF2IRD1 9569 genome.wustl.edu 37 7 73929871 73929871 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016328.1 +1 reviewed p.G122 0.688 95 0% 168 35.7% - - - - - NULL GTF2IRD2 84163 genome.wustl.edu 37 7 74212457 74212457 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173537.2 -1 validated p.H465P 0.688 420 0% 408 28.7% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL GTF2IRD2B 389524 genome.wustl.edu 37 7 74563988 74563988 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001003795.2 +1 reviewed p.E579* 0.994 202 0% 198 29.8% - - - - - NULL TRIM73 375593 genome.wustl.edu 37 7 75028412 75028412 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198924.2 +1 provisional p.S65 0.962 41 0% 74 21.6% - - - - - superfamily_SSF57850 POM121C 100101267 genome.wustl.edu 37 7 75052113 75052113 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001099415.1 -1 validated p.E474 0.658 203 0% 397 27.5% - - - - - NULL SPDYE5 442590 genome.wustl.edu 37 7 75131064 75131064 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001099435.2 +1 validated p.P313 0.037 237 0% 225 35.1% - - - - - NULL STYXL1 51657 genome.wustl.edu 37 7 75630252 75630252 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016086.2 -1 validated p.A256T 0.001 96 0% 98 26.5% - - benign(0.001) tolerated(0.16) neutral(0.059) HMMPfam_DSPc,HMMSmart_SM00195,superfamily_(Phosphotyrosine protein) phosphatases II SRCRB4D 136853 genome.wustl.edu 37 7 76026907 76026907 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_080744.1 -1 provisional p.A266S 1.000 4 0.000 27 0.333 - - benign(0.001) tolerated(0.5) neutral(0.010) HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like POMZP3 22932 genome.wustl.edu 37 7 76240878 76240878 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000454656 -1 known p.S25F 0.892 98 0% 92 30.4% - - - - - NULL PTPN12 5782 genome.wustl.edu 37 7 77230078 77230078 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002835.3 +1 reviewed p.R217M 1.000 159 0% 53 35.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799 MAGI2 9863 genome.wustl.edu 37 7 77756687 77756687 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012301.3 -1 reviewed p.R1084* 1.000 143 0% 108 33.3% - - - - - NULL GNAT3 346562 genome.wustl.edu 37 7 80091620 80091620 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001102386.1 -1 provisional p.M243I 1.000 130 0% 42 35.7% - - probably_damaging(0.973) deleterious(0.02) deleterious(0.798) HMMPfam_G-alpha,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases SEMA3C 10512 genome.wustl.edu 37 7 80378329 80378329 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006379.2 -1 validated p.A576V 1.000 209 0% 47 36.2% - - benign(0.001) tolerated(0.29) neutral(0.029) superfamily_SSF48726 SEMA3C 10512 genome.wustl.edu 37 7 80433445 80433445 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006379.2 -1 validated p.S260A 1.000 224 0% 85 42.4% - - benign(0.011) tolerated(0.46) neutral(0.013) HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema HGF 3082 genome.wustl.edu 37 7 81331968 81331968 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000601.4 -1 reviewed p.F706V 1.000 140 0% 27 51.9% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases PCLO 27445 genome.wustl.edu 37 7 82387907 82387907 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033026.5 -1 validated p.P5138H 1.000 251 0% 31 25.8% - - unknown(0) - - NULL PCLO 27445 genome.wustl.edu 37 7 82390726 82390726 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033026.5 -1 validated p.L5031I 1.000 245 0% 50 46% - - unknown(0) - - HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) PCLO 27445 genome.wustl.edu 37 7 82579156 82579156 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033026.5 -1 validated p.A3583V 1.000 356 0.3% 128 28.1% - - probably_damaging(0.99) - - NULL PCLO 27445 genome.wustl.edu 37 7 82583700 82583700 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033026.5 -1 validated p.S2190L 0.991 215 0% 65 47.7% - - probably_damaging(0.978) - - NULL ABCB4 5244 genome.wustl.edu 37 7 87051491 87051491 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018849.2 -1 reviewed p.F754L 1.000 89 0% 37 40.5% - - benign(0.001) tolerated(0.11) neutral(0.272) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCB1 5243 genome.wustl.edu 37 7 87175255 87175255 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000927.3 -1 reviewed p.G604E 1.000 86 0% 35 11.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases RUNDC3B 154661 genome.wustl.edu 37 7 87400011 87400011 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138290.2 +1 validated p.W265* 1.000 99 0% 35 51.4% - - - - - NULL C7orf62 219557 genome.wustl.edu 37 7 88423666 88423666 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152706.2 -1 predicted p.G197 0.044 223 0.4% 31 29% - - - - - NULL C7orf63 79846 genome.wustl.edu 37 7 89933355 89933355 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000389297 +1 known p.S708Y 0.587 160 0% 55 30.9% - - probably_damaging(0.991) deleterious(0) deleterious(0.889) superfamily_ARM repeat GTPBP10 85865 genome.wustl.edu 37 7 90001473 90001473 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033107.2 +1 validated p.P157S 1.000 170 0% 59 52.5% - - possibly_damaging(0.947) deleterious(0) deleterious(0.835) HMMPfam_MMR_HSR1,superfamily_P-loop containing nucleoside triphosphate hydrolases CDK14 5218 genome.wustl.edu 37 7 90355945 90355945 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012395.2 +1 validated p.D45G 1.000 123 0% 36 38.9% - - possibly_damaging(0.636) deleterious(0) deleterious(0.667) NULL FZD1 8321 genome.wustl.edu 37 7 90894672 90894672 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003505.1 +1 reviewed p.V159 1.000 66 0% 90 44.4% - - - - - superfamily_Frizzled cysteine-rich domain,HMMPfam_Fz,HMMSmart_SM00063 MTERF 7978 genome.wustl.edu 37 7 91503069 91503069 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006980.3 -1 validated p.E347K 1.000 123 0% 46 28.3% - - benign(0.004) tolerated(0.14) neutral(0.249) HMMPfam_mTERF,HMMSmart_SM00733 AKAP9 10142 genome.wustl.edu 37 7 91631047 91631047 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005751.4 +1 reviewed p.E606* 1.000 29 0% 12 33.3% - - - - - NULL AKAP9 10142 genome.wustl.edu 37 7 91707175 91707175 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005751.4 +1 reviewed p.T2311A 0.947 76 0% 28 35.7% - - benign(0.002) tolerated(0.13) neutral(0.253) NULL AKAP9 10142 genome.wustl.edu 37 7 91708658 91708658 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005751.4 +1 reviewed p.T2404I 0.001 76 0% 35 40% - - possibly_damaging(0.517) tolerated(0.13) neutral(0.426) NULL AKAP9 10142 genome.wustl.edu 37 7 91726038 91726038 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005751.4 +1 reviewed p.R3255 0.192 52 0% 31 29% - - - - - NULL AKAP9 10142 genome.wustl.edu 37 7 91726523 91726523 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005751.4 +1 reviewed p.R3417H 0.932 33 0% 38 31.6% - - probably_damaging(0.998) tolerated(0.16) deleterious(0.534) NULL ENSG00000240720 0 genome.wustl.edu 37 7 91774215 91774215 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000430130 -1 known p.A857V 0.020 138 0% 199 30.7% - - benign(0) deleterious(0) neutral(0.445) NULL ENSG00000240720 0 genome.wustl.edu 37 7 91793895 91793895 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000430130 -1 known p.Q208* 0.107 39 0% 30 46.7% - - - - - HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00365,superfamily_L domain-like ANKIB1 54467 genome.wustl.edu 37 7 91924463 91924463 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_019004.1 +1 validated p.G57 1.000 129 0% 49 34.7% - - - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK SAMD9 54809 genome.wustl.edu 37 7 92732573 92732573 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017654.2 -1 validated p.N946 0.000 167 0% 84 32.1% - - - - - NULL SAMD9 54809 genome.wustl.edu 37 7 92732789 92732789 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017654.2 -1 validated p.E874 0.703 60 0% 46 37% - - - - - NULL SAMD9 54809 genome.wustl.edu 37 7 92734528 92734528 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017654.2 -1 validated p.P295T 0.001 217 0% 156 13.5% - - probably_damaging(0.996) tolerated(0.7) neutral(0.464) NULL SAMD9L 219285 genome.wustl.edu 37 7 92761070 92761070 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152703.2 -1 validated p.T1405 0.000 150 0% 54 44.4% - - - - - NULL SAMD9L 219285 genome.wustl.edu 37 7 92763220 92763220 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152703.2 -1 validated p.R689* 1.000 40 0% 12 33.3% - - - - - NULL HEPACAM2 253012 genome.wustl.edu 37 7 92825164 92825164 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001039372.1 -1 provisional p.P418S 1.000 136 0% 17 29.4% - - probably_damaging(1) tolerated(0.05) deleterious(0.845) NULL COL1A2 1278 genome.wustl.edu 37 7 94059558 94059558 + Splice_Site SNP G G T rs113507489 byCluster TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000089.3 +1 reviewed e52-1 1.000 174 0% 39 25.6% - - - - - - CASD1 64921 genome.wustl.edu 37 7 94173756 94173756 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022900.4 +1 validated p.V464I 1.000 205 0% 34 32.4% - - probably_damaging(0.995) tolerated(0.99) neutral(0.458) HMMPfam_Cas1p ASB4 51666 genome.wustl.edu 37 7 95115339 95115339 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016116.1 +1 reviewed p.R19I 0.535 119 0% 57 31.6% - - benign(0) deleterious(0.02) neutral(0.383) NULL SLC25A13 10165 genome.wustl.edu 37 7 95751246 95751246 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014251.2 -1 reviewed p.A552V 1.000 110 0% 60 43.3% - - probably_damaging(0.994) deleterious(0) deleterious(0.897) superfamily_Mitoch_carrier,HMMPfam_Mito_carr SLC25A13 10165 genome.wustl.edu 37 7 95775967 95775967 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014251.2 -1 reviewed p.I451 0.120 50 0% 36 16.7% - - - - - superfamily_Mitoch_carrier,HMMPfam_Mito_carr SLC25A13 10165 genome.wustl.edu 37 7 95818928 95818928 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014251.2 -1 reviewed p.I271 1.000 106 0% 44 11.4% - - - - - superfamily_SSF47473 ASNS 440 genome.wustl.edu 37 7 97484019 97484019 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000454046 -1 known p.N395 0.023 65 0% 24 41.7% - - - - - NULL LMTK2 22853 genome.wustl.edu 37 7 97820925 97820925 + Splice_Site SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014916.3 +1 reviewed e11-1 1.000 80 1.3% 92 30.4% - - - - - - TECPR1 25851 genome.wustl.edu 37 7 97861172 97861172 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015395.1 -1 provisional p.D640N 0.501 20 0% 50 28% - - probably_damaging(0.989) tolerated(0.55) neutral(0.447) superfamily_PH domain-like TRRAP 8295 genome.wustl.edu 37 7 98478803 98478803 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003496.2 +1 validated p.T10 0.000 96 0% 149 35.6% - - - - - NULL BUD31 8896 genome.wustl.edu 37 7 99013874 99013874 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003910.3 +1 validated p.I70L 1.000 113 0% 159 37.1% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_G10 ZKSCAN5 23660 genome.wustl.edu 37 7 99103928 99103928 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014569.3 +1 reviewed p.E87 1.000 71 0% 89 37.1% - - - - - HMMPfam_SCAN,HMMSmart_SM00431 ZKSCAN5 23660 genome.wustl.edu 37 7 99129039 99129039 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014569.3 +1 reviewed p.H563Y 0.921 122 0% 97 13.4% - - possibly_damaging(0.867) tolerated(0.91) neutral(0.337) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZKSCAN5 23660 genome.wustl.edu 37 7 99129667 99129667 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014569.3 +1 reviewed p.S772F 0.266 102 0% 59 42.4% - - possibly_damaging(0.837) deleterious(0) deleterious(0.764) superfamily_C2H2 and C2HC zinc fingers FAM200A 221786 genome.wustl.edu 37 7 99144400 99144400 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_145111.2 -1 validated p.L544R 0.983 224 0% 284 31% - - probably_damaging(0.999) tolerated(0.15) deleterious(0.732) NULL ZNF498 221785 genome.wustl.edu 37 7 99217256 99217256 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_145115.2 +1 validated p.A9 0.462 35 0% 42 35.7% - - - - - NULL ZNF498 221785 genome.wustl.edu 37 7 99227064 99227064 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_145115.2 +1 validated p.E352D 0.942 32 0% 52 32.7% - - benign(0.004) tolerated(0.51) neutral(0.009) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF498 221785 genome.wustl.edu 37 7 99227138 99227138 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_145115.2 +1 validated p.C377Y 0.995 54 0% 48 20.8% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF498 221785 genome.wustl.edu 37 7 99227429 99227429 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_145115.2 +1 validated p.A474V 0.320 38 0% 51 11.8% - - benign(0.08) tolerated(1) neutral(0.005) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers AZGP1 563 genome.wustl.edu 37 7 99564766 99564766 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001185.3 -1 validated p.D253Y 0.023 59 0% 63 22.2% - - possibly_damaging(0.547) deleterious(0) deleterious(0.630) HMMPfam_C1-set,HMMSmart_SM00407,superfamily_Immunoglobulin ZKSCAN1 7586 genome.wustl.edu 37 7 99621296 99621296 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003439.1 +1 validated p.R56H 1.000 56 0% 62 40.3% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_SCAN,HMMSmart_SM00431 ZKSCAN1 7586 genome.wustl.edu 37 7 99627575 99627575 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003439.1 +1 validated p.Q224H 1.000 121 0% 99 40.4% - - benign(0.354) deleterious(0) deleterious(0.556) superfamily_KRAB domain (Kruppel-associated box Pfam 01352) MCM7 4176 genome.wustl.edu 37 7 99696965 99696965 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005916.3 -1 reviewed p.S113N 0.994 85 0% 161 37.9% - - benign(0) tolerated(0.65) neutral(0.003) superfamily_Nucleic acid-binding proteins AP4M1 9179 genome.wustl.edu 37 7 99699379 99699379 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004722.3 +1 reviewed p.P14 0.997 50 0% 122 11.5% - - - - - HMMPfam_Clat_adaptor_s,superfamily_Longin_like C7orf59 389541 genome.wustl.edu 37 7 99751535 99751535 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001008395.2 +1 validated p.R83M 1.000 64 0% 96 39.6% - - benign(0.113) deleterious(0.02) neutral(0.392) NULL C7orf43 55262 genome.wustl.edu 37 7 99755540 99755540 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018275.3 -1 predicted p.V145M 1.000 61 0% 141 36.2% - - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL LOC100287198 100287198 genome.wustl.edu 37 7 99771576 99771576 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002342774.1 +1 model p.D413N 0.291 24 0% 61 29.5% - - - - - NULL GPC2 221914 genome.wustl.edu 37 7 99773494 99773494 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152742.1 -1 provisional p.V117I 0.134 56 0% 102 41.2% - - benign(0) tolerated(0.26) neutral(0.034) HMMPfam_Glypican GPC2 221914 genome.wustl.edu 37 7 99774660 99774660 + Missense_Mutation SNP A A T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152742.1 -1 provisional p.S55T 1.000 10 0% 23 30.4% - - benign(0.194) tolerated(0.05) neutral(0.363) HMMPfam_Glypican PILRA 29992 genome.wustl.edu 37 7 99971767 99971767 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013439.2 +1 reviewed p.F55L 0.537 157 0% 191 11% - - probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin MEPCE 56257 genome.wustl.edu 37 7 100028915 100028915 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_019606.4 +1 provisional p.R425H 1.000 51 0% 127 38.6% - - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) superfamily_SSF53335 NYAP1 222950 genome.wustl.edu 37 7 100086661 100086661 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173564.2 +1 predicted p.P439 0.964 6 0.000 18 0.333 - - - - - NULL AGFG2 3268 genome.wustl.edu 37 7 100161566 100161566 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000429987 +1 known p.R169H 0.000 51 0% 71 45.1% - - - - - NULL LRCH4 4034 genome.wustl.edu 37 7 100176364 100176364 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002319.3 -1 reviewed p.R215H 0.995 44 0% 99 30.3% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_SSF52058 FBXO24 26261 genome.wustl.edu 37 7 100187288 100187288 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000427939 +1 known p.R9W 0.039 89 0% 93 34.4% - - unknown(0) - - NULL FBXO24 26261 genome.wustl.edu 37 7 100187889 100187889 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033506.2 +1 reviewed p.G77 0.940 48 0% 72 9.7% - - - - - HMMPfam_F-box,HMMSmart_SM00256,superfamily_F-box domain ENSG00000224729 0 genome.wustl.edu 37 7 100190698 100190698 + Splice_Site SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000442166 -1 known NULL 0.000 27 0% 57 35.1% - - - - - - LOC100129845 100129845 genome.wustl.edu 37 7 100197361 100197361 + RNA SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XR_078369.1 -1 model NULL 0.000 7 0.000 15 0.600 - - - - - - TFR2 7036 genome.wustl.edu 37 7 100229818 100229818 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003227.3 -1 reviewed p.T285A 1.000 126 0% 227 11.5% - - benign(0.002) tolerated(0.75) neutral(0.002) HMMPfam_PA,superfamily_Transferrin receptor ectodomain apical domain TFR2 7036 genome.wustl.edu 37 7 100238759 100238759 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003227.3 -1 reviewed p.E42 1.000 19 0% 37 16.2% - - - - - NULL ACTL6B 51412 genome.wustl.edu 37 7 100243896 100243896 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016188.4 -1 reviewed p.I392 0.716 55 0% 104 32.7% - - - - - HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067 GNB2 2783 genome.wustl.edu 37 7 100274361 100274361 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005273.3 +1 reviewed p.R48W 0.996 23 0% 53 34% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 GNB2 2783 genome.wustl.edu 37 7 100274988 100274988 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005273.3 +1 reviewed p.A73T 1.000 48 0% 106 33% - - probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40 GIGYF1 64599 genome.wustl.edu 37 7 100279806 100279806 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022574.4 -1 validated p.H938 0.964 57 0% 112 43.8% - - - - - NULL ZAN 7455 genome.wustl.edu 37 7 100352898 100352898 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003386.1 +1 reviewed p.S1058 0.990 44 0% 76 50% - - - - - superfamily_Serine proterase inhibitors,HMMPfam_TIL ZAN 7455 genome.wustl.edu 37 7 100359908 100359908 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003386.1 +1 reviewed p.L1305V 1.000 99 0% 129 31.8% - - benign(0.014) - - HMMPfam_VWD,HMMSmart_SM00216 ZAN 7455 genome.wustl.edu 37 7 100369588 100369588 + Silent SNP G G A rs184998547 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003386.1 +1 reviewed p.A1790 0.000 17 0% 42 35.7% - - - - - HMMPfam_C8 ZAN 7455 genome.wustl.edu 37 7 100377208 100377208 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003386.1 +1 reviewed p.A2153T 0.836 32 0% 64 15.6% - - unknown(0) deleterious(0) - NULL ZAN 7455 genome.wustl.edu 37 7 100388568 100388568 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003386.1 +1 reviewed p.S2454Y 1.000 80 0% 104 42.3% - - unknown(0) - - NULL EPHB4 2050 genome.wustl.edu 37 7 100410542 100410542 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004444.4 -1 reviewed p.L649M 1.000 73 0% 131 35.1% - - probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) SLC12A9 56996 genome.wustl.edu 37 7 100452339 100452339 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020246.2 +1 validated p.I93 0.977 56 0% 86 37.2% - - - - - HMMPfam_AA_permease TRIP6 7205 genome.wustl.edu 37 7 100470306 100470306 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003302.2 +1 reviewed p.E413D 1.000 115 0% 236 11.4% - - possibly_damaging(0.485) tolerated(0.34) neutral(0.184) HMMPfam_LIM,HMMSmart_SM00132,superfamily_Glucocorticoid receptor-like (DNA-binding domain) MUC3A 4584 genome.wustl.edu 37 7 100555565 100555565 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_001725354.2 +1 model p.E1236 0.996 4 0.000 9 0.556 - - - - - HMMPfam_SEA,HMMSmart_SM00200,superfamily_SEA domain MUC12 10071 genome.wustl.edu 37 7 100636703 100636703 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000379442 +1 known p.S1096 0.006 157 0% 145 13.1% - - - - - NULL MUC12 10071 genome.wustl.edu 37 7 100644623 100644623 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000379442 +1 known p.S3736 0.014 1159 0.1% 1111 11.5% - - - - - NULL MUC17 140453 genome.wustl.edu 37 7 100676097 100676097 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001040105.1 +1 provisional p.S467Y 0.015 423 0% 257 36.6% - - unknown(0) - - NULL MUC17 140453 genome.wustl.edu 37 7 100679529 100679529 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001040105.1 +1 provisional p.S1611I 0.001 374 0% 176 17% - - unknown(0) - - NULL MUC17 140453 genome.wustl.edu 37 7 100679676 100679676 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001040105.1 +1 provisional p.S1660I 0.000 334 0% 186 34.4% - - unknown(0) - - NULL AP1S1 1174 genome.wustl.edu 37 7 100800732 100800732 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001283.3 +1 reviewed p.R86Q 1.000 89 0% 162 32.1% - - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMPfam_Clat_adaptor_s,superfamily_SNARE-like AP1S1 1174 genome.wustl.edu 37 7 100803816 100803816 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001283.3 +1 reviewed p.R149Q 1.000 69 0% 149 10.1% - - benign(0.021) tolerated(0.58) neutral(0.006) NULL MOGAT3 346606 genome.wustl.edu 37 7 100839424 100839424 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000440203 -1 known p.W305* 0.000 26 0% 58 53.4% - - - - - NULL CUX1 1523 genome.wustl.edu 37 7 101891733 101891733 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_181552.2 +1 reviewed p.A1310V 1.000 18 0% 26 34.6% - - probably_damaging(0.988) tolerated(0.17) deleterious(0.496) NULL PRKRIP1 79706 genome.wustl.edu 37 7 102040046 102040046 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024653.3 +1 validated p.R86H 1.000 55 0% 68 38.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF1168 LRWD1 222229 genome.wustl.edu 37 7 102110047 102110047 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152892.1 +1 provisional p.L419I 1.000 90 0% 160 37.5% - - probably_damaging(0.953) tolerated(0.08) deleterious(0.697) HMMSmart_WD40,superfamily_WD40_like,PatternScan_WD_REPEATS_1,HMMPfam_WD40 FBXL13 222235 genome.wustl.edu 37 7 102518011 102518011 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_145032.3 -1 validated p.R513Q 1.000 98 0% 33 36.4% - - probably_damaging(0.998) deleterious(0.05) deleterious(0.820) HMMSmart_SM00367,superfamily_RNI-like LRRC17 10234 genome.wustl.edu 37 7 102574507 102574507 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001031692.2 +1 validated p.A49 0.923 40 0% 21 42.9% - - - - - NULL NFE4 58160 genome.wustl.edu 37 7 102616574 102616574 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001085386.1 +1 reviewed p.R151Q 0.008 91 0% 53 37.7% - - - - - NULL DNAJC2 27000 genome.wustl.edu 37 7 102957292 102957292 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014377.1 -1 reviewed p.A471D 1.000 210 0% 124 37.1% - - unknown(0) deleterious(0.01) - HMMSmart_SM00717,superfamily_Homeodomain-like,HMMPfam_Myb_DNA-binding SLC26A5 375611 genome.wustl.edu 37 7 103017301 103017301 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198999.2 -1 reviewed p.K665 0.998 133 0% 72 41.7% - - - - - HMMPfam_STAS,superfamily_Anti-sigma factor antagonist SpoIIaa ORC5 5001 genome.wustl.edu 37 7 103808891 103808891 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_181747.1 -1 reviewed p.G303R 0.000 146 0% 90 35.6% - - benign(0.01) tolerated(0.11) neutral(0.272) NULL MLL5 55904 genome.wustl.edu 37 7 104753728 104753728 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018682.3 +1 reviewed p.A1842V 1.000 60 0% 24 29.2% - - possibly_damaging(0.643) deleterious(0) deleterious(0.670) NULL RINT1 60561 genome.wustl.edu 37 7 105205787 105205787 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021930.4 +1 validated p.P650 0.000 130 0% 65 32.3% - - - - - HMMPfam_RINT1_TIP1 PIK3CG 5294 genome.wustl.edu 37 7 106508826 106508826 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002649.2 +1 reviewed p.V274I 1.000 35 0% 75 37.3% - - benign(0.051) tolerated(0.06) neutral(0.326) HMMPfam_PI3K_rbd,HMMSmart_SM00144,superfamily_Ubiquitin-like PIK3CG 5294 genome.wustl.edu 37 7 106509865 106509865 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002649.2 +1 reviewed p.S620I 1.000 78 0% 102 31.4% - - possibly_damaging(0.46) tolerated(0.13) neutral(0.403) HMMPfam_PI3Ka,HMMSmart_SM00145,superfamily_ARM repeat BCAP29 55973 genome.wustl.edu 37 7 107258776 107258776 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001008405.2 +1 validated p.S258L 0.779 45 0% 19 42.1% - - unknown(0) - - NULL SLC26A3 1811 genome.wustl.edu 37 7 107434303 107434303 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000111.2 -1 reviewed p.R52I 0.394 91 0% 37 27% - - benign(0.322) tolerated(0.16) neutral(0.161) NULL SLC26A3 1811 genome.wustl.edu 37 7 107434917 107434917 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000111.2 -1 reviewed p.R13M 1.000 224 0% 78 25.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL LAMB4 22798 genome.wustl.edu 37 7 107664543 107664543 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007356.2 -1 validated p.V1743I 0.121 237 0% 85 40% - - benign(0.001) tolerated(0.2) neutral(0.049) NULL LAMB4 22798 genome.wustl.edu 37 7 107708470 107708470 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007356.2 -1 validated p.G813S 1.000 90 0% 55 49.1% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,superfamily_EGF/Laminin LAMB4 22798 genome.wustl.edu 37 7 107743556 107743556 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007356.2 -1 validated p.C371 1.000 29 0% 28 39.3% - - - - - HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,superfamily_EGF/Laminin NRCAM 4897 genome.wustl.edu 37 7 107790386 107790386 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001037132.1 -1 reviewed p.S1295Y 1.000 160 0% 42 28.6% - - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) NULL GPR85 54329 genome.wustl.edu 37 7 112724596 112724596 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018970.6 -1 validated p.D61Y 1.000 122 0% 92 43.5% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PPP1R3A 5506 genome.wustl.edu 37 7 113518477 113518477 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002711.3 -1 reviewed p.K890N 0.009 98 0% 34 23.5% - - possibly_damaging(0.707) deleterious(0.01) deleterious(0.661) NULL FOXP2 93986 genome.wustl.edu 37 7 114329941 114329941 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_148898.2 +1 reviewed p.R728K 1.000 133 0% 26 42.3% - - unknown(0) deleterious(0) - NULL TFEC 22797 genome.wustl.edu 37 7 115582009 115582009 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012252.2 -1 validated p.E201* 1.000 357 0% 66 27.3% - - - - - superfamily_HLH helix-loop-helix DNA-binding domain ST7 7982 genome.wustl.edu 37 7 116770651 116770651 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021908.2 +1 reviewed p.A186T 1.000 85 0% 14 35.7% - - benign(0.017) tolerated(0.05) neutral(0.346) HMMPfam_ST7 ASZ1 136991 genome.wustl.edu 37 7 117003730 117003730 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_130768.2 -1 validated p.I450L 0.997 201 0% 45 37.8% - - benign(0) tolerated(0.62) neutral(0.004) NULL KCND2 3751 genome.wustl.edu 37 7 120387737 120387737 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012281.2 +1 reviewed p.R573Q 1.000 119 0% 25 44% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL C7orf58 79974 genome.wustl.edu 37 7 120773893 120773893 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024913.4 +1 validated p.D532Y 0.001 154 0% 20 60% - - possibly_damaging(0.837) deleterious(0.02) deleterious(0.703) NULL WNT16 51384 genome.wustl.edu 37 7 120969663 120969663 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_057168.1 +1 reviewed p.G46 1.000 31 0% 61 49.2% - - - - - HMMPfam_wnt PTPRZ1 5803 genome.wustl.edu 37 7 121636476 121636476 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002851.2 +1 reviewed p.E323D 1.000 142 0% 67 37.3% - - benign(0.023) tolerated(0.18) neutral(0.057) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PTPRZ1 5803 genome.wustl.edu 37 7 121650412 121650412 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002851.2 +1 reviewed p.E438* 0.936 169 0% 36 30.6% - - - - - NULL PTPRZ1 5803 genome.wustl.edu 37 7 121671535 121671535 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002851.2 +1 reviewed p.V1696 1.000 153 0% 48 27.1% - - - - - superfamily_(Phosphotyrosine protein) phosphatases II FEZF1 389549 genome.wustl.edu 37 7 121944025 121944025 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001024613.2 -1 validated p.A156D 1.000 20 0% 46 34.8% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL CADPS2 93664 genome.wustl.edu 37 7 122078429 122078429 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017954.10 -1 reviewed p.N814K 1.000 172 0% 51 41.2% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_DUF1041 CADPS2 93664 genome.wustl.edu 37 7 122114520 122114520 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017954.10 -1 reviewed p.P638L 1.000 185 0% 48 43.8% - - probably_damaging(0.98) deleterious(0) deleterious(0.869) NULL IQUB 154865 genome.wustl.edu 37 7 123105037 123105037 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178827.4 -1 validated p.E536D 0.997 92 0% 29 51.7% - - possibly_damaging(0.767) tolerated(0.09) deleterious(0.581) NULL ASB15 142685 genome.wustl.edu 37 7 123276887 123276887 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_080928.3 +1 validated p.L540S 1.000 68 0% 44 43.2% - - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_SOCS_box,HMMSmart_SM00253 SPAM1 6677 genome.wustl.edu 37 7 123594056 123594056 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003117.4 +1 reviewed p.V144 0.997 63 0% 14 42.9% - - - - - HMMPfam_Glyco_hydro_56,superfamily_Glyco_hydro_cat POT1 25913 genome.wustl.edu 37 7 124503425 124503425 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015450.2 -1 reviewed p.D175 1.000 82 0% 24 54.2% - - - - - NULL ZNF800 168850 genome.wustl.edu 37 7 127014981 127014981 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000265827 -1 known p.E137* 1.000 165 0% 52 34.6% - - - - - NULL GCC1 79571 genome.wustl.edu 37 7 127222210 127222210 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024523.5 -1 reviewed p.R729H 1.000 385 0% 416 36.1% - - probably_damaging(0.988) tolerated(0.07) deleterious(0.756) HMMPfam_GRIP,HMMSmart_SM00755 FSCN3 29999 genome.wustl.edu 37 7 127235769 127235769 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020369.1 +1 provisional p.R185* 1.000 144 0% 198 37.9% - - - - - superfamily_Actin_crosslink PAX4 5078 genome.wustl.edu 37 7 127250989 127250989 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000378740 -1 known p.A322T 0.127 18 0% 25 48% - - benign(0) tolerated(0.31) neutral(0.027) NULL LRRC4 64101 genome.wustl.edu 37 7 127670170 127670170 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022143.4 -1 validated p.R175H 1.000 44 0% 52 30.8% - - possibly_damaging(0.921) tolerated(0.24) neutral(0.408) superfamily_L domain-like FAM71F2 346653 genome.wustl.edu 37 7 128312470 128312470 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001012454.3 +1 validated p.L7I 1.000 63 0% 45 31.1% - - benign(0.35) deleterious(0) deleterious(0.555) NULL FAM71F1 84691 genome.wustl.edu 37 7 128355670 128355670 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032599.2 +1 validated p.L59F 1.000 68 0% 56 42.9% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL CCDC136 64753 genome.wustl.edu 37 7 128441353 128441353 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022742.3 +1 validated p.R154W 1.000 94 0% 152 38.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL FLNC 2318 genome.wustl.edu 37 7 128478794 128478794 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001458.4 +1 reviewed p.V450M 0.991 11 0% 25 36% - - possibly_damaging(0.761) deleterious(0) deleterious(0.726) HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin FLNC 2318 genome.wustl.edu 37 7 128481560 128481560 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001458.4 +1 reviewed p.P687L 1.000 84 0% 155 35.5% - - benign(0.012) tolerated(0.14) neutral(0.250) HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin FLNC 2318 genome.wustl.edu 37 7 128486445 128486445 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001458.4 +1 reviewed p.R1352H 0.997 39 0% 80 28.7% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin FLNC 2318 genome.wustl.edu 37 7 128490513 128490513 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001458.4 +1 reviewed p.A1792T 0.993 40 0% 114 32.5% - - benign(0) tolerated(1) - HMMSmart_SM00557 FLNC 2318 genome.wustl.edu 37 7 128491579 128491579 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001458.4 +1 reviewed p.T1913 1.000 56 0% 102 39.2% - - - - - HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin FLNC 2318 genome.wustl.edu 37 7 128498536 128498536 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001458.4 +1 reviewed p.E2713K 1.000 88 0% 177 37.9% - - benign(0.207) deleterious(0.02) neutral(0.403) HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin TNPO3 23534 genome.wustl.edu 37 7 128626828 128626828 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012470.2 -1 validated p.D549N 1.000 60 0% 27 29.6% - - possibly_damaging(0.696) deleterious(0.02) deleterious(0.633) superfamily_ARM repeat NRF1 4899 genome.wustl.edu 37 7 129394970 129394970 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001040110.1 +1 reviewed p.S487 1.000 42 0% 38 28.9% - - - - - HMMPfam_Nrf1_activ_bdg ZC3HC1 51530 genome.wustl.edu 37 7 129664192 129664192 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016478.3 -1 validated p.R311 0.996 47 0% 58 36.2% - - - - - NULL ZC3HC1 51530 genome.wustl.edu 37 7 129666073 129666073 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016478.3 -1 validated p.T234I 0.016 151 0% 128 28.9% - - benign(0.285) tolerated(0.11) neutral(0.359) NULL TMEM209 84928 genome.wustl.edu 37 7 129841919 129841919 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032842.3 -1 validated p.T115M 1.000 49 0% 34 55.9% - - possibly_damaging(0.859) deleterious(0.03) deleterious(0.697) HMMPfam_CytochromB561_N TMEM209 84928 genome.wustl.edu 37 7 129843931 129843931 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032842.3 -1 validated p.P8H 0.737 175 0% 174 43.1% - - possibly_damaging(0.901) tolerated(0.07) deleterious(0.676) HMMPfam_CytochromB561_N CPA1 1357 genome.wustl.edu 37 7 130027664 130027664 + Splice_Site SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001868.2 +1 reviewed e10-1 1.000 107 0% 79 35.4% - - - - - - MEST 4232 genome.wustl.edu 37 7 130139737 130139737 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002402.2 +1 reviewed p.R186H 0.990 99 0% 83 34.9% - - benign(0) tolerated(0.47) neutral(0.011) HMMPfam_Abhydrolase_1,superfamily_alpha/beta-Hydrolases COPG2 26958 genome.wustl.edu 37 7 130147134 130147134 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012133.4 -1 validated p.P395H 0.971 152 0.7% 62 37.1% - - - - - NULL TSGA13 114960 genome.wustl.edu 37 7 130368433 130368433 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_052933.2 -1 provisional p.E34G 0.979 309 0% 157 28.7% - - benign(0.224) deleterious(0) neutral(0.467) NULL KLF14 136259 genome.wustl.edu 37 7 130417939 130417939 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138693.2 -1 reviewed p.A308T 0.010 59 0% 105 36.2% - - unknown(0) tolerated(0.29) - NULL MKLN1 4289 genome.wustl.edu 37 7 131071896 131071896 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013255.4 +1 validated p.L62 1.000 200 0% 102 32.4% - - - - - superfamily_Galactose-binding domain-like,HMMPfam_Muskelin_N LOC647030 647030 genome.wustl.edu 37 7 131347065 131347065 + RNA SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XR_017470.3 -1 model NULL 0.998 294 0% 180 40.6% - - - - - - PLXNA4 91584 genome.wustl.edu 37 7 131825491 131825491 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020911.1 -1 validated p.A1769T 1.000 177 0% 155 36.8% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_GTPase activation domain GAP,HMMPfam_Plexin_cytopl PLXNA4 91584 genome.wustl.edu 37 7 131887415 131887415 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020911.1 -1 validated p.R859H 0.898 16 0% 29 27.6% - - possibly_damaging(0.668) deleterious(0.02) deleterious(0.619) HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains CHCHD3 54927 genome.wustl.edu 37 7 132481279 132481279 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017812.2 -1 provisional p.R195H 0.994 200 0.5% 42 31% - - benign(0.004) deleterious(0.02) neutral(0.383) HMMPfam_CHCH LRGUK 136332 genome.wustl.edu 37 7 133842866 133842866 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144648.1 +1 provisional p.T250M 0.005 187 0.5% 70 35.7% - - benign(0.011) deleterious(0.02) neutral(0.384) HMMPfam_LRR_1,superfamily_SSF52058 LRGUK 136332 genome.wustl.edu 37 7 133948671 133948671 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144648.1 +1 provisional p.R808C 0.000 149 0% 58 37.9% - - possibly_damaging(0.85) deleterious(0.01) deleterious(0.733) NULL SLC35B4 84912 genome.wustl.edu 37 7 133994131 133994131 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032826.4 -1 validated p.A60T 1.000 64 0% 39 33.3% - - benign(0.001) tolerated(0.47) neutral(0.011) HMMPfam_UAA,superfamily_Multidrug resistance efflux transporter EmrE AKR1B10 57016 genome.wustl.edu 37 7 134215509 134215509 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020299.4 +1 reviewed p.E61* 1.000 201 0% 72 38.9% - - - - - HMMPfam_Aldo_ket_red,superfamily_NAD(P)-linked oxidoreductase AKR1B10 57016 genome.wustl.edu 37 7 134217811 134217811 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020299.4 +1 reviewed p.A136V 0.000 144 0% 71 12.7% - - benign(0.017) tolerated(1) neutral(0.001) HMMPfam_Aldo_ket_red,superfamily_NAD(P)-linked oxidoreductase AKR1B10 57016 genome.wustl.edu 37 7 134221837 134221837 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020299.4 +1 reviewed p.L196R 1.000 161 0% 75 12% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Aldo_ket_red,superfamily_NAD(P)-linked oxidoreductase CALD1 800 genome.wustl.edu 37 7 134625857 134625857 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033138.3 +1 reviewed p.K467N 0.707 105 0% 49 34.7% - - unknown(0) tolerated(0.34) - HMMPfam_Caldesmon CALD1 800 genome.wustl.edu 37 7 134625989 134625989 + Splice_Site SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033138.3 +1 reviewed e5+1 1.000 51 0% 42 35.7% - - - - - - AGBL3 340351 genome.wustl.edu 37 7 134718929 134718929 + Missense_Mutation SNP G G A rs183782913 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178563.3 +1 provisional p.R196H 1.000 71 0% 16 50% - - possibly_damaging(0.906) deleterious(0.03) deleterious(0.724) NULL SLC13A4 26266 genome.wustl.edu 37 7 135386438 135386438 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012450.2 -1 validated p.H234R 0.006 433 0% 307 34.9% - - benign(0) tolerated(0.43) neutral(0.013) HMMPfam_Na_sulph_symp DGKI 9162 genome.wustl.edu 37 7 137266651 137266651 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004717.2 -1 reviewed p.N529 1.000 149 0% 63 12.7% - - - - - HMMPfam_DAGK_acc,HMMSmart_DAGKa TRIM24 8805 genome.wustl.edu 37 7 138239587 138239587 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015905.2 +1 reviewed p.R469Q 1.000 66 0% 10 40% - - probably_damaging(1) tolerated(0.3) deleterious(0.528) NULL ATP6V0A4 50617 genome.wustl.edu 37 7 138394469 138394469 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020632.2 -1 reviewed p.G777R 0.071 78 0% 51 29.4% - - possibly_damaging(0.635) tolerated(0.32) neutral(0.246) HMMPfam_V_ATPase_I KIAA1549 57670 genome.wustl.edu 37 7 138601865 138601865 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020910.2 -1 validated p.T786K 0.002 84 0% 76 21.1% - - possibly_damaging(0.659) deleterious(0) deleterious(0.677) NULL KIAA1549 57670 genome.wustl.edu 37 7 138602389 138602389 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020910.2 -1 validated p.Q611H 0.015 60 0% 69 10.1% - - benign(0.354) deleterious(0) deleterious(0.556) NULL ZC3HAV1L 92092 genome.wustl.edu 37 7 138719330 138719330 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_080660.3 -1 validated p.R154W 0.003 162 0% 225 32.4% - - probably_damaging(0.999) tolerated(0.16) deleterious(0.550) NULL ZC3HAV1 56829 genome.wustl.edu 37 7 138738274 138738274 + Missense_Mutation SNP C C T rs187388789 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020119.3 -1 reviewed p.R791H 0.000 203 0% 154 37.7% - - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_PARP,superfamily_ADP-ribosylation ZC3HAV1 56829 genome.wustl.edu 37 7 138761071 138761071 + Missense_Mutation SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020119.3 -1 reviewed p.E553V 0.987 129 0% 105 44.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TBXAS1 6916 genome.wustl.edu 37 7 139529235 139529235 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001061.4 +1 reviewed p.V17M 0.990 80 0% 36 30.6% - - probably_damaging(0.975) tolerated(0.07) deleterious(0.736) NULL JHDM1D 80853 genome.wustl.edu 37 7 139810902 139810902 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000472616 -1 known p.Q69* 1.000 209 0% 216 12.5% - - benign(0.025) tolerated(0.52) neutral(0.010) NULL MKRN1 23608 genome.wustl.edu 37 7 140179074 140179074 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013446.3 -1 validated p.A24V 1.000 3 0.000 14 0.357 - - unknown(0) tolerated(0.08) - NULL BRAF 673 genome.wustl.edu 37 7 140454024 140454024 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000496384 -1 known p.T176M 1.000 224 0% 94 29.8% - - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase MRPS33 51650 genome.wustl.edu 37 7 140710251 140710251 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016071.3 -1 reviewed p.L61 1.000 190 0% 112 39.3% - - - - - HMMPfam_MRP-S33 KIAA1147 57189 genome.wustl.edu 37 7 141366141 141366141 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080392.1 -1 provisional p.R256* 0.978 129 0% 106 32.1% - - - - - HMMPfam_DUF2347 WEE2 494551 genome.wustl.edu 37 7 141424046 141424046 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001105558.1 +1 validated p.R398C 1.000 171 0% 77 40.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Kinase_like,HMMPfam_Pkinase MGAM 8972 genome.wustl.edu 37 7 141776524 141776524 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000475668 +1 known p.E1798D 0.898 84 0% 34 35.3% - - unknown(0) tolerated(0.58) - NULL MGAM 8972 genome.wustl.edu 37 7 141794208 141794208 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000475668 +1 known p.R2407H 1.000 95 0% 59 28.8% - - unknown(0) deleterious(0) - HMMPfam_Glyco_hydro_31,superfamily_(Trans)glycosidases MGAM 8972 genome.wustl.edu 37 7 141796213 141796213 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004668.2 +1 reviewed p.R1668C 0.000 201 0% 96 15.6% - - unknown(0) deleterious(0.01) - HMMPfam_Glyco_hydro_31 MGAM 8972 genome.wustl.edu 37 7 141803176 141803176 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004668.2 +1 reviewed p.S1811 0.003 115 0% 25 52% - - - - - NULL TRBV7-1 28597 genome.wustl.edu 37 7 142032279 142032279 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000390354 +1 known p.K33N 0.000 21 0% 13 30.8% - - benign(0.049) tolerated(0.45) neutral(0.015) HMMPfam_V-set,superfamily_SSF48726 TRBV10-2 28584 genome.wustl.edu 37 7 142206632 142206632 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000426318 -1 known p.D75Y 0.000 89 0% 63 36.5% - - benign(0) deleterious(0.03) neutral(0.364) HMMPfam_V-set,superfamily_SSF48726 TRBJ2-5 28624 genome.wustl.edu 37 7 142494811 142494811 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000390417 +1 known p.R3 0.038 20 0% 55 23.6% - - unknown(0) - - NULL C7orf34 135927 genome.wustl.edu 37 7 142637443 142637443 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000458732 +1 known p.E77* 0.304 163 0% 135 34.8% - - possibly_damaging(0.653) deleterious(0) deleterious(0.674) NULL KEL 3792 genome.wustl.edu 37 7 142639996 142639996 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000420.2 -1 reviewed p.A636D 0.854 38 0% 26 46.2% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) "HMMPfam_Peptidase_M13,superfamily_Metalloproteases (""zincins"") catalytic domain" KEL 3792 genome.wustl.edu 37 7 142640913 142640913 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000420.2 -1 reviewed p.A517T 0.016 101 0% 92 34.8% - - probably_damaging(0.957) tolerated(0.22) neutral(0.443) "superfamily_Metalloproteases (""zincins"") catalytic domain" TAS2R40 259286 genome.wustl.edu 37 7 142919330 142919330 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_176882.1 +1 provisional p.L53 0.000 103 0% 47 23.4% - - - - - HMMPfam_TAS2R,superfamily_Family A G protein-coupled receptor-like TMEM139 135932 genome.wustl.edu 37 7 142983853 142983853 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153345.1 +1 provisional p.A194 1.000 124 0% 208 38.5% - - - - - NULL CLCN1 1180 genome.wustl.edu 37 7 143018550 143018550 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000083.2 +1 reviewed p.A176T 0.998 341 0% 298 37.6% - - benign(0.009) tolerated(0.06) neutral(0.323) HMMPfam_Voltage_CLC,superfamily_Clc chloride channel ZYX 7791 genome.wustl.edu 37 7 143080290 143080290 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001010972.1 +1 reviewed p.E300K 0.001 66 0% 127 38.6% - - benign(0.014) tolerated(0.83) neutral(0.001) NULL ZYX 7791 genome.wustl.edu 37 7 143085965 143085965 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001010972.1 +1 reviewed p.A474T 0.555 20 0% 52 32.7% - - benign(0.113) tolerated(0.45) neutral(0.021) HMMPfam_LIM,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,superfamily_SSF57716 EPHA1 2041 genome.wustl.edu 37 7 143092425 143092425 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005232.4 -1 reviewed p.G690 0.997 100 0% 139 41% - - - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) EPHA1 2041 genome.wustl.edu 37 7 143092484 143092484 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005232.4 -1 reviewed p.L671I 1.000 115 0% 161 35.4% - - possibly_damaging(0.859) deleterious(0) deleterious(0.776) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) EPHA1 2041 genome.wustl.edu 37 7 143098585 143098585 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005232.4 -1 reviewed p.R88 0.053 23 0% 38 44.7% - - - - - HMMPfam_Ephrin_lbd,HMMSmart_SM00615,superfamily_Galactose-binding domain-like TAS2R60 338398 genome.wustl.edu 37 7 143141121 143141121 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_177437.1 +1 provisional p.F192L 0.000 113 0% 58 34.5% - - possibly_damaging(0.906) tolerated(0.5) neutral(0.369) HMMPfam_TAS2R,superfamily_SSF81321 CTAGE6P 340307 genome.wustl.edu 37 7 143454130 143454130 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178561.4 -1 validated p.A208T 0.035 847 0% 882 12.7% - - - - - NULL OR2A2 442361 genome.wustl.edu 37 7 143807066 143807066 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005480.2 +1 validated p.Y131H 1.000 283 0% 68 30.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 OR2A7 401427 genome.wustl.edu 37 7 143955836 143955836 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005328.1 -1 provisional p.V296L 0.922 644 0% 368 10.1% - - possibly_damaging(0.746) deleterious(0.02) deleterious(0.657) superfamily_Family A G protein-coupled receptor-like LOC728377 728377 genome.wustl.edu 37 7 143983600 143983600 + RNA SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XR_078379.1 -1 model NULL 0.044 99 0% 143 24.5% - - - - - - LOC728377 728377 genome.wustl.edu 37 7 143983763 143983763 + RNA SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XR_078379.1 -1 model NULL 0.001 144 0% 126 15.1% - - - - - - OR2A1 346528 genome.wustl.edu 37 7 144015545 144015545 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005287.1 +1 provisional p.E110K 0.066 277 0% 99 14.1% - - possibly_damaging(0.815) deleterious(0) deleterious(0.752) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 LOC643438 643438 genome.wustl.edu 37 7 148334301 148334301 + RNA SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XR_015310.2 +1 model NULL 0.156 128 0% 72 37.5% - - - - - - LOC643438 643438 genome.wustl.edu 37 7 148334488 148334488 + RNA SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XR_015310.2 +1 model NULL 0.251 68 0% 53 35.8% - - - - - - CUL1 8454 genome.wustl.edu 37 7 148454139 148454139 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003592.2 +1 validated p.R127Q 1.000 209 0% 120 30% - - benign(0.008) tolerated(0.56) neutral(0.006) HMMPfam_Cullin,superfamily_Cullin repeat CUL1 8454 genome.wustl.edu 37 7 148485698 148485698 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003592.2 +1 validated p.D510G 1.000 84 0% 92 12% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cullin,HMMSmart_SM00182,superfamily_Cullin homology domain CUL1 8454 genome.wustl.edu 37 7 148489858 148489858 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003592.2 +1 validated p.T616M 1.000 80 0% 83 39.8% - - benign(0.01) tolerated(0.07) neutral(0.320) HMMPfam_Cullin,superfamily_Cullin homology domain EZH2 2146 genome.wustl.edu 37 7 148506180 148506180 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004456.3 -1 reviewed p.E726D 1.000 149 0% 97 38.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SET,HMMSmart_SET,superfamily_SSF82199 ZNF786 136051 genome.wustl.edu 37 7 148769330 148769330 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152411.3 -1 validated p.D178 0.000 53 0% 67 37.3% - - - - - NULL ZNF425 155054 genome.wustl.edu 37 7 148802561 148802561 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001001661.2 -1 validated p.K134N 0.000 169 0% 235 36.2% - - possibly_damaging(0.839) tolerated(0.43) neutral(0.334) NULL ZNF282 8427 genome.wustl.edu 37 7 148921544 148921544 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003575.2 +1 validated p.C607 0.998 45 0% 76 36.8% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF746 155061 genome.wustl.edu 37 7 149171635 149171635 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152557.4 -1 validated p.A592V 0.829 39 0% 100 40% - - benign(0.227) tolerated(0.13) neutral(0.275) NULL ZNF746 155061 genome.wustl.edu 37 7 149171868 149171868 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152557.4 -1 validated p.E514 0.978 10 0.000 9 0.778 - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 KRBA1 84626 genome.wustl.edu 37 7 149418070 149418070 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000496259 +1 known p.R58* 0.000 33 0% 86 38.4% - - benign(0.002) tolerated(0.22) neutral(0.042) NULL SSPO 23145 genome.wustl.edu 37 7 149489566 149489566 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000378016 +1 known p.A1907T 0.053 13 0% 28 42.9% - - - - - superfamily_TSP-1 type 1 repeat,HMMSmart_SM00214,HMMSmart_SM00215 SSPO 23145 genome.wustl.edu 37 7 149506511 149506511 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000378016 +1 known p.Q3095 0.928 5 0.000 36 0.444 - - - - - superfamily_Serine proterase inhibitors SSPO 23145 genome.wustl.edu 37 7 149506617 149506617 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000378016 +1 known p.L3131M 0.996 7 0.000 20 0.500 - - - - - superfamily_Serine proterase inhibitors SSPO 23145 genome.wustl.edu 37 7 149516592 149516592 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000378016 +1 known p.R3999* 0.982 7 0.000 21 0.238 - - - - - HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat ZNF862 643641 genome.wustl.edu 37 7 149558986 149558986 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001099220.1 +1 provisional p.A913T 1.000 25 0% 66 22.7% - - benign(0.208) tolerated(0.11) neutral(0.292) NULL ZNF862 643641 genome.wustl.edu 37 7 149561236 149561236 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001099220.1 +1 provisional p.V1125M 0.000 38 0% 66 36.4% - - benign(0) tolerated(0.34) neutral(0.023) NULL GIMAP8 155038 genome.wustl.edu 37 7 150163849 150163849 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_175571.2 +1 reviewed p.S21 0.000 89 0% 29 27.6% - - - - - HMMPfam_AIG1,superfamily_SSF52540 GIMAP8 155038 genome.wustl.edu 37 7 150174534 150174534 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_175571.2 +1 reviewed p.D555G 0.000 101 0% 38 31.6% - - possibly_damaging(0.49) tolerated(0.73) neutral(0.165) HMMPfam_AIG1,superfamily_SSF52540 GIMAP4 55303 genome.wustl.edu 37 7 150269340 150269340 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018326.2 +1 reviewed p.A61V 0.000 136 0% 54 27.8% - - possibly_damaging(0.852) tolerated(0.09) deleterious(0.624) HMMPfam_AIG1,superfamily_SSF52540 ABP1 26 genome.wustl.edu 37 7 150554434 150554434 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001091.2 +1 reviewed p.P292 0.002 11 0% 33 27.3% - - - - - superfamily_Amine oxidase N-terminal region ABP1 26 genome.wustl.edu 37 7 150558186 150558186 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001091.2 +1 reviewed p.I715 0.984 33 0% 57 17.5% - - - - - HMMPfam_Cu_amine_oxid,superfamily_Amine oxidase catalytic domain KCNH2 3757 genome.wustl.edu 37 7 150654490 150654490 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000238.2 -1 reviewed p.N339K 1.000 121 0% 268 37.7% - - benign(0.424) deleterious(0.01) deleterious(0.543) NULL ABCB8 11194 genome.wustl.edu 37 7 150730966 150730966 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007188.3 +1 reviewed p.L124M 0.995 28 0% 51 23.5% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_ABC_TM_1 ABCB8 11194 genome.wustl.edu 37 7 150732752 150732752 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007188.3 +1 reviewed p.A284T 1.000 20 0% 46 39.1% - - benign(0.022) tolerated(0.11) neutral(0.273) HMMPfam_ABC_membrane,superfamily_ABC_TM_1 ASB10 136371 genome.wustl.edu 37 7 150883612 150883612 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001142459.1 -1 reviewed p.A196T 0.996 14 0% 28 32.1% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat PRKAG2 51422 genome.wustl.edu 37 7 151273506 151273506 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016203.3 -1 reviewed p.N299 0.997 171 0% 88 9.1% - - - - - HMMPfam_CBS,HMMSmart_SM00116,superfamily_CBS-domain GALNTL5 168391 genome.wustl.edu 37 7 151668068 151668068 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_145292.3 +1 validated p.E96* 0.030 92 0% 76 40.8% - - - - - superfamily_Nucleotide-diphospho-sugar transferases GALNT11 63917 genome.wustl.edu 37 7 151800240 151800240 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022087.2 +1 validated p.V155I 0.970 134 0% 98 44.9% - - benign(0) tolerated(1) - HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases GALNT11 63917 genome.wustl.edu 37 7 151802349 151802349 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000452146 +1 known p.R85G 0.998 101 0% 92 35.9% - - - - - HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases GALNT11 63917 genome.wustl.edu 37 7 151805284 151805284 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022087.2 +1 validated p.G292R 1.000 36 0% 52 28.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases MLL3 58508 genome.wustl.edu 37 7 151841931 151841931 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_170606.2 -1 reviewed p.S4737* 1.000 364 0% 152 36.8% - - - - - NULL DPP6 1804 genome.wustl.edu 37 7 154659744 154659744 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000377770 +1 known p.A585V 0.987 139 0% 148 34.5% - - benign(0.155) tolerated(0.73) neutral(0.015) superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain DPP6 1804 genome.wustl.edu 37 7 154659777 154659777 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000377770 +1 known p.Y596C 0.964 142 0% 158 36.7% - - probably_damaging(0.996) tolerated(0.09) deleterious(0.758) superfamily_alpha/beta-Hydrolases PAXIP1 22976 genome.wustl.edu 37 7 154760576 154760576 + Silent SNP C C T rs61752010 TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007349.3 -1 reviewed p.P445 0.000 64 0% 94 51.1% - - - - - NULL PAXIP1 22976 genome.wustl.edu 37 7 154767973 154767973 + Silent SNP G G A rs61752017 TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007349.3 -1 reviewed p.C169 0.621 118 0% 82 15.9% - - - - - HMMPfam_BRCT,HMMSmart_SM00292,superfamily_BRCT domain INSIG1 3638 genome.wustl.edu 37 7 155093391 155093391 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000476756 +1 known p.R85C 0.933 118 0% 171 35.1% - - - - - HMMPfam_INSIG EN2 2020 genome.wustl.edu 37 7 155255169 155255169 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001427.3 +1 reviewed p.F263L 0.993 59 0% 145 40% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like UBE3C 9690 genome.wustl.edu 37 7 157041158 157041158 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014671.2 +1 validated p.A860T 1.000 95 0% 112 29.5% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain PTPRN2 5799 genome.wustl.edu 37 7 157959857 157959857 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002847.3 -1 reviewed p.P226S 0.950 31 0% 45 13.3% - - probably_damaging(0.989) deleterious(0) deleterious(0.884) NULL NCAPG2 54892 genome.wustl.edu 37 7 158464269 158464269 + Silent SNP C C T rs144031410 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000441982 -1 known p.R274Q 0.182 140 0% 102 28.4% - - - - - superfamily_ARM repeat ESYT2 57488 genome.wustl.edu 37 7 158528250 158528250 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020728.2 -1 validated p.V844I 0.986 64 1.6% 69 49.3% - - benign(0.067) tolerated(0.07) neutral(0.324) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB VIPR2 7434 genome.wustl.edu 37 7 158824677 158824677 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003382.4 -1 validated p.I351 0.884 103 0% 184 36.4% - - - - - HMMPfam_7tm_2,superfamily_SSF81321 ZNF596 169270 genome.wustl.edu 37 8 195470 195470 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001042415.1 +1 validated p.S208Y 0.043 89 0% 37 54.1% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355 MYOM2 9172 genome.wustl.edu 37 8 2000351 2000351 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003970.2 +1 validated p.T61 0.000 104 0% 78 35.9% - - - - - NULL MYOM2 9172 genome.wustl.edu 37 8 2057259 2057259 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003970.2 +1 validated p.E1039D 0.995 120 0% 121 39.7% - - benign(0.001) tolerated(0.17) neutral(0.059) NULL CSMD1 64478 genome.wustl.edu 37 8 3565986 3565986 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033225.5 -1 validated p.R320I 1.000 124 0% 103 29.1% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL ANGPT2 285 genome.wustl.edu 37 8 6366456 6366456 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001147.2 -1 reviewed p.G443R 1.000 292 0% 195 39% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Fibrinogen_C,HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like ANGPT2 285 genome.wustl.edu 37 8 6371272 6371272 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001147.2 -1 reviewed p.K376Q 0.004 124 0% 83 42.2% - - benign(0.005) tolerated(0.33) neutral(0.024) HMMPfam_Fibrinogen_C,HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like ANGPT2 285 genome.wustl.edu 37 8 6377418 6377418 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001147.2 -1 reviewed p.T299 0.440 357 0% 217 11.5% - - - - - HMMPfam_Fibrinogen_C,HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like MFHAS1 9258 genome.wustl.edu 37 8 8748018 8748018 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004225.2 -1 reviewed p.P851S 1.000 49 0% 62 37.1% - - probably_damaging(1) tolerated(0.07) deleterious(0.819) NULL MFHAS1 9258 genome.wustl.edu 37 8 8748673 8748673 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004225.2 -1 reviewed p.P632 0.190 58 0% 103 42.7% - - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases ERI1 90459 genome.wustl.edu 37 8 8865587 8865587 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153332.3 +1 validated p.T72 0.027 56 0% 93 45.2% - - - - - NULL TNKS 8658 genome.wustl.edu 37 8 9592559 9592559 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003747.2 +1 validated p.T833I 1.000 61 0% 30 33.3% - - benign(0.247) deleterious(0.03) neutral(0.390) superfamily_Ankyrin repeat RP1L1 94137 genome.wustl.edu 37 8 10480564 10480564 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178857.5 -1 validated p.R50C 0.987 9 0.000 25 0.200 - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF89837 SOX7 83595 genome.wustl.edu 37 8 10583523 10583523 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031439.2 -1 reviewed p.A298T 0.998 143 0% 271 40.2% - - possibly_damaging(0.8) tolerated(0.54) neutral(0.308) NULL XKR6 286046 genome.wustl.edu 37 8 10756023 10756023 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000382461 -1 known p.P232H 1.000 128 0% 93 28% - - - - - HMMPfam_XK-related BLK 640 genome.wustl.edu 37 8 11415527 11415527 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001715.2 +1 validated p.L337M 1.000 114 0% 171 39.8% - - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) DEFB136 613210 genome.wustl.edu 37 8 11831560 11831560 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001033018.2 -1 provisional p.F41L 0.978 112 0% 79 31.6% - - possibly_damaging(0.792) deleterious(0) deleterious(0.742) HMMPfam_Defensin_beta C8orf48 157773 genome.wustl.edu 37 8 13424730 13424730 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001007090.2 +1 validated p.K77T 0.000 75 0% 80 43.8% - - possibly_damaging(0.494) tolerated(0.07) deleterious(0.484) NULL SGCZ 137868 genome.wustl.edu 37 8 14095154 14095154 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_139167.2 -1 reviewed p.V124G 0.999 176 0% 87 37.9% - - probably_damaging(0.965) deleterious(0) deleterious(0.851) HMMPfam_Sarcoglycan_1 MSR1 4481 genome.wustl.edu 37 8 15977988 15977988 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138715.2 -1 reviewed p.V387 1.000 35 0% 27 25.9% - - - - - HMMPfam_SRCR,PatternScan_SRCR_1,HMMSmart_SM00202,superfamily_SRCR-like MTMR7 9108 genome.wustl.edu 37 8 17157628 17157628 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004686.4 -1 reviewed p.A576T 0.998 217 0% 65 24.6% - - possibly_damaging(0.647) tolerated(0.57) neutral(0.233) NULL SLC7A2 6542 genome.wustl.edu 37 8 17407881 17407881 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003046.5 +1 validated p.T297M 0.892 361 0% 122 45.1% - - benign(0.078) deleterious(0.03) neutral(0.370) HMMPfam_AA_permease PDGFRL 5157 genome.wustl.edu 37 8 17486009 17486009 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006207.1 +1 reviewed p.L173 0.931 86 0% 53 41.5% - - - - - superfamily_Immunoglobulin NAT1 9 genome.wustl.edu 37 8 18080021 18080021 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000662.5 +1 reviewed p.E155D 0.014 128 0% 32 37.5% - - benign(0) tolerated(0.25) neutral(0.037) HMMPfam_Acetyltransf_2,superfamily_SSF54001 PSD3 23362 genome.wustl.edu 37 8 18793570 18793570 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015310.3 -1 validated p.R35K 0.568 91 0% 41 48.8% - - unknown(0) tolerated(0.3) - NULL SH2D4A 63898 genome.wustl.edu 37 8 19218809 19218809 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022071.3 +1 validated p.S230 0.000 123 0% 35 25.7% - - - - - NULL CSGALNACT1 55790 genome.wustl.edu 37 8 19263452 19263452 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001130518.1 -1 validated p.R480C 1.000 78 0% 50 32% - - probably_damaging(0.986) tolerated(0.18) deleterious(0.490) HMMPfam_CHGN,superfamily_SSF53448 INTS10 55174 genome.wustl.edu 37 8 19681423 19681423 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018142.2 +1 validated p.R235H 0.998 143 0% 104 15.4% - - probably_damaging(0.999) tolerated(0.3) deleterious(0.519) NULL INTS10 55174 genome.wustl.edu 37 8 19681452 19681452 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018142.2 +1 validated p.L245 0.906 152 0% 113 39.8% - - - - - NULL INTS10 55174 genome.wustl.edu 37 8 19682313 19682313 + Splice_Site SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018142.2 +1 validated e8-1 1.000 89 0% 59 45.8% - - - - - - LPL 4023 genome.wustl.edu 37 8 19809403 19809403 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000311322 +1 known p.A125T 1.000 108 0% 74 33.8% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases SLC18A1 6570 genome.wustl.edu 37 8 20038472 20038472 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001135691.2 -1 validated p.L2F 1.000 68 0% 36 50% - - benign(0.002) tolerated(0.14) neutral(0.249) NULL LZTS1 11178 genome.wustl.edu 37 8 20107308 20107308 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021020.2 -1 reviewed p.S572 0.000 70 0% 109 40.4% - - - - - NULL HR 55806 genome.wustl.edu 37 8 21976785 21976785 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005144.4 -1 reviewed p.H997Y 1.000 26 0% 48 14.6% - - possibly_damaging(0.545) tolerated(0.07) deleterious(0.504) HMMSmart_SM00558 HR 55806 genome.wustl.edu 37 8 21979157 21979157 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005144.4 -1 reviewed p.G724 0.010 273 0% 539 11.9% - - - - - NULL LGI3 203190 genome.wustl.edu 37 8 22009106 22009106 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_139278.2 -1 validated p.S242F 0.989 51 0% 78 37.2% - - benign(0.009) deleterious(0.05) neutral(0.346) HMMPfam_EPTP SFTPC 6440 genome.wustl.edu 37 8 22019362 22019362 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003018.3 +1 reviewed p.E7 1.000 263 0% 471 30.8% - - - - - HMMSmart_SM00019,HMMPfam_SP_C-Propep BMP1 649 genome.wustl.edu 37 8 22052361 22052361 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006129.4 +1 reviewed p.S523N 1.000 50 0% 78 32.1% - - benign(0) tolerated(1) - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain BMP1 649 genome.wustl.edu 37 8 22054780 22054780 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006129.4 +1 reviewed p.R652C 1.000 67 0% 115 38.3% - - probably_damaging(0.999) tolerated(0.09) deleterious(0.787) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain SORBS3 10174 genome.wustl.edu 37 8 22424370 22424370 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005775.4 +1 validated p.A393 0.964 38 0% 113 41.6% - - - - - HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain C8orf58 541565 genome.wustl.edu 37 8 22458554 22458554 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001013842.1 +1 validated p.R67Q 0.537 29 0% 45 37.8% - - benign(0.282) tolerated(0.63) neutral(0.090) NULL KIAA1967 57805 genome.wustl.edu 37 8 22475909 22475909 + Silent SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021174.4 +1 validated p.L707 1.000 215 0% 298 39.3% - - - - - NULL EGR3 1960 genome.wustl.edu 37 8 22548403 22548403 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004430.2 -1 reviewed p.P249 1.000 76 0% 229 38% - - - - - NULL RHOBTB2 23221 genome.wustl.edu 37 8 22862040 22862040 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015178.2 +1 validated p.I31 1.000 42 0% 102 32.4% - - - - - HMMSmart_RHO,superfamily_SSF52540 TNFRSF10C 8794 genome.wustl.edu 37 8 22974222 22974222 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003841.2 +1 reviewed p.F153C 0.002 93 1.1% 106 40.6% - - benign(0.169) - - NULL TNFRSF10D 8793 genome.wustl.edu 37 8 23001972 23001972 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003840.3 -1 reviewed p.Q315 0.000 38 0% 47 12.8% - - - - - NULL CHMP7 91782 genome.wustl.edu 37 8 23117725 23117725 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152272.3 +1 validated p.D397N 0.988 87 0% 80 27.5% - - possibly_damaging(0.694) tolerated(0.1) deleterious(0.535) HMMPfam_Snf7 LOXL2 4017 genome.wustl.edu 37 8 23156440 23156440 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002318.2 -1 reviewed p.F718 0.990 100 0% 148 12.2% - - - - - HMMPfam_Lysyl_oxidase LOXL2 4017 genome.wustl.edu 37 8 23198553 23198553 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002318.2 -1 reviewed p.G232D 1.000 81 0% 105 43.8% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_SRCR,PatternScan_SRCR_1,HMMSmart_SR,superfamily_Srcr_receptor LOXL2 4017 genome.wustl.edu 37 8 23225582 23225582 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002318.2 -1 reviewed p.V95I 1.000 13 0% 18 38.9% - - possibly_damaging(0.779) tolerated(0.06) deleterious(0.614) HMMPfam_SRCR,HMMSmart_SR,superfamily_Srcr_receptor STC1 6781 genome.wustl.edu 37 8 23702371 23702371 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003155.2 -1 reviewed p.P219L 1.000 175 0% 60 11.7% - - probably_damaging(0.979) deleterious(0.01) deleterious(0.828) HMMPfam_Stanniocalcin ADAMDEC1 27299 genome.wustl.edu 37 8 24253291 24253291 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014479.3 +1 validated p.S141N 0.978 149 0% 40 15% - - benign(0.229) deleterious(0.04) neutral(0.372) HMMPfam_Pep_M12B_propep ADAMDEC1 27299 genome.wustl.edu 37 8 24259439 24259440 + Frame_Shift_Ins INS - - A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014479.3 +1 validated p.D387fs 1.000:0.989 - - - - - - - - - HMMPfam_Reprolysin,superfamily_SSF55486 ADAM7 8756 genome.wustl.edu 37 8 24348393 24348393 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000380789 +1 known p.S450P 0.999 265 0% 90 32.2% - - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin),PatternScan_DISINTEGRIN_1 CDCA2 157313 genome.wustl.edu 37 8 25323804 25323804 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152562.2 +1 validated p.F167L 0.127 85 0% 53 30.2% - - benign(0.36) tolerated(0.3) neutral(0.143) NULL DPYSL2 1808 genome.wustl.edu 37 8 26492404 26492404 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001386.4 +1 validated p.A267T 1.000 61 0% 59 10.2% - - possibly_damaging(0.878) deleterious(0) deleterious(0.786) HMMPfam_Amidohydro_1,superfamily_Composite domain of metallo-dependent hydrolases,superfamily_Metallo-dependent hydrolases ADRA1A 148 genome.wustl.edu 37 8 26628131 26628131 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033303.3 -1 reviewed p.F312L 1.000 128 0.8% 71 42.3% - - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_7tm_1,superfamily_SSF81321 TRIM35 23087 genome.wustl.edu 37 8 27151614 27151614 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_171982.3 -1 validated p.D249N 0.946 93 0% 55 32.7% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL SCARA3 51435 genome.wustl.edu 37 8 27528420 27528420 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016240.2 +1 reviewed p.A458D 0.932 14 0% 16 43.8% - - benign(0.053) - - HMMPfam_Collagen SCARA3 51435 genome.wustl.edu 37 8 27528579 27528579 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016240.2 +1 reviewed p.G511D 0.998 6 0.000 14 0.571 - - probably_damaging(0.989) - - HMMPfam_Collagen ESCO2 157570 genome.wustl.edu 37 8 27634454 27634454 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001017420.2 +1 reviewed p.A210V 1.000 50 0% 63 14.3% - - probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL ZNF395 55893 genome.wustl.edu 37 8 28206719 28206719 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018660.2 -1 validated p.S451 0.971 53 0% 120 31.7% - - - - - NULL INTS9 55756 genome.wustl.edu 37 8 28671121 28671121 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018250.3 -1 reviewed p.P166H 1.000 151 0% 41 46.3% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL DUSP4 1846 genome.wustl.edu 37 8 29197741 29197741 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001394.5 -1 reviewed p.S151 1.000 40 0% 48 43.8% - - - - - HMMPfam_Rhodanese,HMMSmart_SM00450,superfamily_Rhodanese/Cell cycle control phosphatase GSR 2936 genome.wustl.edu 37 8 30538552 30538552 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000637.2 -1 validated p.E430* 1.000 262 0% 132 40.2% - - - - - HMMPfam_Pyr_redox_dim,superfamily_FAD/NAD-linked reductases dimerisation (C-terminal) domain UBXN8 7993 genome.wustl.edu 37 8 30608998 30608998 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000265616 +1 known p.W58* 1.000 346 0% 255 34.9% - - - - - NULL PPP2CB 5516 genome.wustl.edu 37 8 30651484 30651484 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001009552.1 -1 reviewed p.N229 1.000 91 0% 34 44.1% - - - - - HMMPfam_Metallophos,HMMSmart_SM00156,superfamily_Metallo-dependent phosphatases TEX15 56154 genome.wustl.edu 37 8 30702461 30702461 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031271.3 -1 validated p.R1358I 0.000 129 0% 43 11.6% - - possibly_damaging(0.951) deleterious(0) deleterious(0.839) NULL TEX15 56154 genome.wustl.edu 37 8 30706241 30706241 + Missense_Mutation SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031271.3 -1 validated p.E98V 0.000 238 0% 74 37.8% - - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL WRN 7486 genome.wustl.edu 37 8 30933694 30933694 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000553.4 +1 reviewed p.E244* 0.578 65 0% 40 30% - - - - - NULL FUT10 84750 genome.wustl.edu 37 8 33247284 33247284 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032664.3 -1 validated p.P137T 1.000 95 0% 56 39.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_transf_10 TTI2 80185 genome.wustl.edu 37 8 33361317 33361317 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001102401.1 -1 validated p.R355H 1.000 75 0% 42 47.6% - - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_DUF2454 RNF122 79845 genome.wustl.edu 37 8 33416277 33416277 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024787.2 -1 reviewed p.G13D 1.000 93 0% 98 18.4% - - benign(0.008) tolerated(0.19) neutral(0.050) NULL DUSP26 78986 genome.wustl.edu 37 8 33449606 33449606 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024025.1 -1 provisional p.G187 1.000 37 0% 69 36.2% - - - - - HMMPfam_DSPc,HMMSmart_SM00195,superfamily_(Phosphotyrosine protein) phosphatases II UNC5D 137970 genome.wustl.edu 37 8 35544172 35544172 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_080872.2 +1 validated p.F343L 1.000 136 0% 32 28.1% - - benign(0) tolerated(0.67) neutral(0.003) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat RAB11FIP1 80223 genome.wustl.edu 37 8 37730049 37730049 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001002814.2 -1 validated p.G757 0.000 95 0% 65 40% - - - - - NULL RAB11FIP1 80223 genome.wustl.edu 37 8 37730315 37730315 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001002814.2 -1 validated p.D669N 0.000 154 0% 127 40.9% - - benign(0) tolerated(0.09) neutral(0.296) NULL RAB11FIP1 80223 genome.wustl.edu 37 8 37732284 37732284 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001002814.2 -1 validated p.T457 0.000 60 0% 55 38.2% - - - - - NULL ASH2L 9070 genome.wustl.edu 37 8 37971744 37971744 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004674.3 +1 validated p.C207Y 1.000 99 0% 44 40.9% - - benign(0) tolerated(0.71) neutral(0.002) NULL TACC1 6867 genome.wustl.edu 37 8 38646246 38646246 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006283.2 +1 reviewed p.E62D 1.000 143 0% 188 36.7% - - probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL IDO2 169355 genome.wustl.edu 37 8 39840263 39840263 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_194294.2 +1 validated p.T149 0.633 136 0% 102 38.2% - - - - - HMMPfam_IDO IDO2 169355 genome.wustl.edu 37 8 39871153 39871153 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_194294.2 +1 validated p.Y276* 0.999 135 0% 39 33.3% - - - - - HMMPfam_IDO NKX6-3 157848 genome.wustl.edu 37 8 41504084 41504084 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152568.2 -1 provisional p.D98N 1.000 21 0% 35 48.6% - - possibly_damaging(0.8) tolerated(0.15) deleterious(0.542) NULL ANK1 286 genome.wustl.edu 37 8 41521258 41521258 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001142446.1 -1 reviewed p.G1840 0.819 179 0% 272 26.5% - - - - - NULL ANK1 286 genome.wustl.edu 37 8 41550271 41550271 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001142446.1 -1 reviewed p.P1292 0.892 51 0% 102 37.3% - - - - - NULL ANK1 286 genome.wustl.edu 37 8 41551615 41551615 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001142446.1 -1 reviewed p.Q1152 1.000 32 0% 48 43.8% - - - - - NULL KAT6A 7994 genome.wustl.edu 37 8 41792352 41792352 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001099412.1 -1 validated p.R1129Q 0.981 109 0% 119 27.7% - - unknown(0) deleterious(0.03) - NULL AP3M2 10947 genome.wustl.edu 37 8 42019911 42019911 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001134296.1 +1 reviewed p.E186D 1.000 204 0% 127 40.9% - - possibly_damaging(0.948) deleterious(0.01) deleterious(0.796) HMMPfam_Adap_comp_sub,superfamily_Second domain of Mu2 adaptin subunit (ap50) of ap2 adaptor AP3M2 10947 genome.wustl.edu 37 8 42024777 42024777 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001134296.1 +1 reviewed p.T300M 1.000 94 0% 62 9.7% - - possibly_damaging(0.888) deleterious(0.02) deleterious(0.730) HMMPfam_Adap_comp_sub,superfamily_Second domain of Mu2 adaptin subunit (ap50) of ap2 adaptor IKBKB 3551 genome.wustl.edu 37 8 42179577 42179577 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001556.1 +1 validated p.R582* 0.993 179 0% 182 37.4% - - - - - NULL IKBKB 3551 genome.wustl.edu 37 8 42179985 42179985 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001556.1 +1 validated p.E653 0.998 146 0% 146 33.6% - - - - - NULL DKK4 27121 genome.wustl.edu 37 8 42232315 42232315 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014420.2 -1 reviewed p.R127G 0.167 433 0% 251 30.3% - - unknown(0) tolerated(0.52) - NULL RNF170 81790 genome.wustl.edu 37 8 42720613 42720613 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030954.3 -1 validated p.Y114 1.000 107 0% 91 28.6% - - - - - HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_RING/U-box HOOK3 84376 genome.wustl.edu 37 8 42814435 42814435 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032410.3 +1 validated p.R198I 1.000 169 0% 84 42.9% - - possibly_damaging(0.901) deleterious(0) deleterious(0.801) HMMPfam_HOOK FNTA 2339 genome.wustl.edu 37 8 42932496 42932496 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002027.2 +1 reviewed p.E257 0.992 90 0% 40 37.5% - - - - - superfamily_Protein prenylyltransferase SGK196 84197 genome.wustl.edu 37 8 42977709 42977709 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032237.3 +1 validated p.E248K 1.000 49 0% 44 43.2% - - probably_damaging(0.999) tolerated(0.18) deleterious(0.546) HMMPfam_Pkinase_Tyr,superfamily_Kinase_like ENSG00000215177 0 genome.wustl.edu 37 8 48114517 48114517 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000399730 -1 known p.A2T 1.000 52 0% 43 37.2% - - - - - NULL PRKDC 5591 genome.wustl.edu 37 8 48715979 48715979 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001081640.1 -1 validated p.T3270M 0.000 91 0% 53 28.3% - - - - - NULL PRKDC 5591 genome.wustl.edu 37 8 48749008 48749008 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001081640.1 -1 validated p.A2614V 0.000 68 0% 89 47.2% - - - - - NULL PRKDC 5591 genome.wustl.edu 37 8 48752611 48752611 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000314191 -1 known p.Y2473H 1.000 119 0% 104 43.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat PRKDC 5591 genome.wustl.edu 37 8 48845714 48845714 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000314191 -1 known p.E548* 1.000 86 0% 50 48% - - - - - superfamily_ARM repeat MCM4 4173 genome.wustl.edu 37 8 48874133 48874133 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005914.2 +1 reviewed p.T43N 0.996 86 0% 165 35.8% - - possibly_damaging(0.691) tolerated(0.53) neutral(0.255) NULL SNTG1 54212 genome.wustl.edu 37 8 51415350 51415350 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018967.2 +1 reviewed p.R126W 1.000 100 0% 28 39.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like PXDNL 137902 genome.wustl.edu 37 8 52469460 52469460 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144651.4 -1 validated p.K107T 1.000 125 0% 25 44% - - probably_damaging(0.997) tolerated(0.16) deleterious(0.526) HMMSmart_SM00369,superfamily_L domain-like PXDNL 137902 genome.wustl.edu 37 8 52567280 52567280 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144651.4 -1 validated p.A69T 0.024 228 0% 95 34.7% - - benign(0.009) tolerated(0.06) neutral(0.323) HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like PCMTD1 115294 genome.wustl.edu 37 8 52733196 52733196 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_052937.2 -1 validated p.M263I 1.000 292 6.5% 324 10.2% - - possibly_damaging(0.452) tolerated(0.42) neutral(0.162) NULL PCMTD1 115294 genome.wustl.edu 37 8 52744027 52744027 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_052937.2 -1 validated p.G228D 1.000 153 0% 55 29.1% - - benign(0.002) tolerated(0.18) neutral(0.056) NULL ST18 9705 genome.wustl.edu 37 8 53062464 53062464 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014682.2 -1 validated p.S627Y 1.000 389 0% 147 38.1% - - benign(0.028) deleterious(0.04) neutral(0.350) HMMPfam_MYT1 RB1CC1 9821 genome.wustl.edu 37 8 53569924 53569924 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014781.4 -1 reviewed p.F822C 0.999 150 0% 42 38.1% - - probably_damaging(0.974) deleterious(0.02) deleterious(0.799) NULL OPRK1 4986 genome.wustl.edu 37 8 54142152 54142152 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000912.3 -1 validated p.F283S 1.000 75 0% 38 34.2% - - probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_7tm_1,superfamily_SSF81321 OPRK1 4986 genome.wustl.edu 37 8 54147645 54147645 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000912.3 -1 validated p.N95T 1.000 139 0% 72 50% - - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_7tm_1,superfamily_SSF81321 MRPL15 29088 genome.wustl.edu 37 8 55055303 55055303 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014175.3 +1 reviewed p.N170 1.000 197 0% 161 39.1% - - - - - superfamily_SSF52080 LOC401480 401480 genome.wustl.edu 37 8 55534552 55534552 + RNA SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XR_040305.2 -1 model NULL 0.002 20 0% 16 37.5% - - - - - - RP1 6101 genome.wustl.edu 37 8 55539308 55539308 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006269.1 +1 reviewed p.D956Y 0.000 59 0% 28 32.1% - - possibly_damaging(0.678) deleterious(0.01) deleterious(0.647) NULL RP1 6101 genome.wustl.edu 37 8 55542156 55542156 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006269.1 +1 reviewed p.D1905G 1.000 104 1% 58 36.2% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL RP1 6101 genome.wustl.edu 37 8 55542468 55542468 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006269.1 +1 reviewed p.R2009I 0.001 75 0% 36 38.9% - - benign(0.008) deleterious(0.03) neutral(0.364) NULL RP1 6101 genome.wustl.edu 37 8 55542638 55542638 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006269.1 +1 reviewed p.D2066N 1.000 60 0% 28 46.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL MOS 4342 genome.wustl.edu 37 8 57026208 57026208 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005372.1 -1 validated p.L112 1.000 31 0% 88 31.8% - - - - - superfamily_Kinase_like,HMMPfam_Pkinase PLAG1 5324 genome.wustl.edu 37 8 57078825 57078825 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001114634.1 -1 reviewed p.R494C 1.000 98 0% 49 24.5% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL FAM110B 90362 genome.wustl.edu 37 8 59059413 59059413 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_147189.2 +1 validated p.S208 0.025 58 0% 71 31% - - - - - NULL CYP7A1 1581 genome.wustl.edu 37 8 59409736 59409736 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000780.3 -1 reviewed p.R112I 0.992 119 0% 74 31.1% - - benign(0.115) tolerated(0.16) neutral(0.068) HMMPfam_p450,superfamily_Cytochrome_P450 NSMAF 8439 genome.wustl.edu 37 8 59496667 59496667 + Nonstop_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001144772.1 -1 reviewed p.*949Q 1.000 197 0% 61 29.5% - - - - - NULL CHD7 55636 genome.wustl.edu 37 8 61713037 61713037 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017780.2 +1 reviewed p.A777T 1.000 69 0% 27 25.9% - - benign(0.051) tolerated(0.57) neutral(0.009) NULL CHD7 55636 genome.wustl.edu 37 8 61720811 61720811 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017780.2 +1 reviewed p.F826L 1.000 215 0% 112 44.6% - - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_Chromo,HMMSmart_SM00298,superfamily_Chromo domain-like NKAIN3 286183 genome.wustl.edu 37 8 63492178 63492178 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173688.2 +1 provisional p.I45M 1.000 292 0% 89 36% - - probably_damaging(0.982) tolerated(0.34) neutral(0.450) HMMPfam_NKAIN TTPA 7274 genome.wustl.edu 37 8 63973948 63973948 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000370.3 -1 reviewed p.L234I 0.130 137 0% 63 12.7% - - benign(0.015) tolerated(0.45) neutral(0.013) HMMPfam_CRAL_TRIO,HMMSmart_SEC14,superfamily_CRAL_TRIO_C TRIM55 84675 genome.wustl.edu 37 8 67066356 67066356 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_184085.1 +1 reviewed p.A437 1.000 48 0% 17 41.2% - - - - - NULL TRIM55 84675 genome.wustl.edu 37 8 67086758 67086758 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_184085.1 +1 reviewed p.G526V 0.650 114 0% 143 42% - - benign(0.09) deleterious(0) neutral(0.451) NULL RRS1 23212 genome.wustl.edu 37 8 67341789 67341789 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015169.3 +1 validated p.R141 0.999 8 0.000 22 0.455 - - - - - HMMPfam_RRS1 ADHFE1 137872 genome.wustl.edu 37 8 67372597 67372597 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144650.2 +1 validated p.T406M 0.999 40 0% 37 32.4% - - benign(0.144) tolerated(0.11) neutral(0.284) HMMPfam_Fe-ADH,superfamily_Dehydroquinate synthase-like ADHFE1 137872 genome.wustl.edu 37 8 67380561 67380561 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144650.2 +1 validated p.F460L 1.000 164 0% 69 37.7% - - benign(0.035) tolerated(0.3) neutral(0.030) superfamily_Dehydroquinate synthase-like MYBL1 4603 genome.wustl.edu 37 8 67488482 67488482 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080416.2 -1 validated p.N410 0.996 239 0% 107 39.3% - - - - - NULL VCPIP1 80124 genome.wustl.edu 37 8 67577571 67577571 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025054.4 -1 validated p.C541 1.000 121 0% 125 40.8% - - - - - NULL PPP1R42 286187 genome.wustl.edu 37 8 67900750 67900750 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001013626.2 -1 provisional p.D185E 0.998 82 0% 58 53.4% - - benign(0.003) tolerated(0.41) neutral(0.015) superfamily_SSF52058 CSPP1 79848 genome.wustl.edu 37 8 68070776 68070776 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001077204.1 +1 validated p.R809Q 0.971 163 0% 110 35.5% - - probably_damaging(0.994) deleterious(0.02) deleterious(0.835) NULL ARFGEF1 10565 genome.wustl.edu 37 8 68200214 68200214 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006421.3 -1 reviewed p.E335* 1.000 322 0% 64 45.3% - - - - - superfamily_ARM-type_fold CPA6 57094 genome.wustl.edu 37 8 68423888 68423888 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020361.4 -1 validated p.V107A 0.998 174 0% 56 16.1% - - possibly_damaging(0.787) deleterious(0) deleterious(0.739) HMMPfam_Propep_M14,superfamily_Protease propeptides/inhibitors PREX2 80243 genome.wustl.edu 37 8 68950461 68950461 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024870.2 +1 validated p.G258E 1.000 177 0% 38 28.9% - - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like PREX2 80243 genome.wustl.edu 37 8 69009355 69009355 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024870.2 +1 validated p.E824 1.000 112 0% 30 36.7% - - - - - NULL SLCO5A1 81796 genome.wustl.edu 37 8 70744674 70744674 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030958.2 -1 reviewed p.L79 0.000 24 0% 50 14% - - - - - NULL NCOA2 10499 genome.wustl.edu 37 8 71039265 71039265 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006540.2 -1 validated p.Q1233H 1.000 143 0% 95 47.4% - - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL NCOA2 10499 genome.wustl.edu 37 8 71068554 71068554 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006540.2 -1 validated p.S682 0.997 62 0% 25 48% - - - - - HMMPfam_SRC-1 XKR9 389668 genome.wustl.edu 37 8 71593552 71593552 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001011720.1 +1 provisional p.G87* 1.000 130 0% 48 43.8% - - - - - HMMPfam_XK-related LOC392232 392232 genome.wustl.edu 37 8 73142622 73142622 + RNA SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XR_037363.2 -1 model NULL 0.060 149 0% 42 26.2% - - - - - - LOC392232 392232 genome.wustl.edu 37 8 73157125 73157125 + RNA SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XR_037363.2 -1 model NULL 0.615 102 0% 58 13.8% - - - - - - LOC100129527 100129527 genome.wustl.edu 37 8 73341897 73341898 + Frame_Shift_Ins INS - - G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_001715839.1 +1 model p.Q14fs 0.783:0.842 - - - - - - - - - NULL LOC100129527 100129527 genome.wustl.edu 37 8 73341901 73341902 + Frame_Shift_Ins INS - - A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_001715839.1 +1 model p.V16fs 0.988:0.995 - - - - - - - - - NULL KCNB2 9312 genome.wustl.edu 37 8 73848908 73848908 + Missense_Mutation SNP C C A rs146080562 TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004770.2 +1 reviewed p.L440I 1.000 56 0% 23 47.8% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL RPL7 6129 genome.wustl.edu 37 8 74204024 74204024 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000971.3 -1 reviewed p.P138S 1.000 117 0% 205 34.6% - - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_Ribosomal_L30,superfamily_Ribosomal protein L30p/L7e,PatternScan_RIBOSOMAL_L30 JPH1 56704 genome.wustl.edu 37 8 75227528 75227528 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020647.2 -1 reviewed p.R236H 1.000 40 0% 61 31.1% - - probably_damaging(1) tolerated(0.06) deleterious(0.823) NULL GDAP1 54332 genome.wustl.edu 37 8 75272401 75272401 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018972.2 +1 reviewed p.E114* 0.998 113 0% 49 44.9% - - - - - NULL PI15 51050 genome.wustl.edu 37 8 75757638 75757638 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015886.3 +1 reviewed p.R183W 1.000 241 0% 97 37.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SCP,HMMPfam_SCP,superfamily_SCP-like_extracellular CRISPLD1 83690 genome.wustl.edu 37 8 75928914 75928914 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031461.4 +1 validated p.N281S 1.000 105 0% 46 34.8% - - benign(0.01) tolerated(0.13) neutral(0.253) NULL ZFHX4 79776 genome.wustl.edu 37 8 77617649 77617649 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024721.4 +1 validated p.E442D 0.991 73 0% 44 25% - - benign(0.032) - - NULL ZFHX4 79776 genome.wustl.edu 37 8 77620171 77620171 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024721.4 +1 validated p.G968D 1.000 85 0% 36 38.9% - - probably_damaging(0.961) - - superfamily_C2H2 and C2HC zinc fingers ZFHX4 79776 genome.wustl.edu 37 8 77765710 77765710 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024721.4 +1 validated p.R2140* 1.000 90 0% 46 39.1% - - - - - HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1 TPD52 7163 genome.wustl.edu 37 8 80992669 80992669 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001025252.1 -1 validated p.D7G 0.993 88 0% 27 51.9% - - benign(0.235) deleterious(0) neutral(0.468) NULL ZBTB10 65986 genome.wustl.edu 37 8 81411758 81411758 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001105539.1 +1 validated p.Y334* 0.990 104 0% 54 27.8% - - - - - NULL LRRCC1 85444 genome.wustl.edu 37 8 86021899 86021899 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033402.4 +1 validated p.I58 0.003 92 0% 118 37.3% - - - - - superfamily_Outer arm dynein light chain 1 C8orf59 401466 genome.wustl.edu 37 8 86129661 86129661 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000417663 -1 known p.F23C 0.007 358 0% 258 36.4% - - possibly_damaging(0.741) tolerated(0.09) deleterious(0.568) NULL CA13 377677 genome.wustl.edu 37 8 86178894 86178894 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198584.2 +1 validated p.E138* 1.000 223 0% 112 39.3% - - - - - HMMPfam_Carb_anhydrase,superfamily_Euk_COanhd CA1 759 genome.wustl.edu 37 8 86244739 86244739 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001128829.2 -1 reviewed p.L165I 0.079 141 0% 19 26.3% - - benign(0.31) tolerated(0.09) neutral(0.393) HMMPfam_Carb_anhydrase,superfamily_Euk_COanhd CA3 761 genome.wustl.edu 37 8 86356266 86356266 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005181.3 +1 reviewed p.H119N 1.000 107 0% 76 38.2% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_Carb_anhydrase,superfamily_Euk_COanhd,PatternScan_ALPHA_CA_1 CA2 760 genome.wustl.edu 37 8 86386025 86386025 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000067.2 +1 reviewed p.K112N 0.006 114 0% 57 38.6% - - possibly_damaging(0.769) tolerated(0.48) neutral(0.296) HMMPfam_Carb_anhydrase,superfamily_Carbonic anhydrase,PatternScan_ALPHA_CA_1 ATP6V0D2 245972 genome.wustl.edu 37 8 87111269 87111269 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152565.1 +1 validated p.R21Q 1.000 63 0% 32 31.2% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_vATP-synt_AC39,superfamily_ATPase_V0/A0_c/d ATP6V0D2 245972 genome.wustl.edu 37 8 87153693 87153693 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152565.1 +1 validated p.D166Y 1.000 253 0% 60 28.3% - - possibly_damaging(0.946) deleterious(0) deleterious(0.835) HMMPfam_vATP-synt_AC39,superfamily_ATPase_V0/A0_c/d SLC7A13 157724 genome.wustl.edu 37 8 87235284 87235284 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138817.2 -1 validated p.A245V 0.001 166 0% 48 33.3% - - benign(0.074) deleterious(0.01) neutral(0.411) HMMPfam_AA_permease DCAF4L2 138009 genome.wustl.edu 37 8 88885973 88885973 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152418.3 -1 validated p.R76H 0.161 173 0% 92 28.3% - - possibly_damaging(0.643) deleterious(0.01) deleterious(0.631) superfamily_WD40_like RIPK2 8767 genome.wustl.edu 37 8 90792329 90792329 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003821.5 +1 reviewed p.L294V 0.825 134 0% 37 48.6% - - benign(0.003) tolerated(0.07) neutral(0.319) HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) OSGIN2 734 genome.wustl.edu 37 8 90921920 90921920 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001126111.1 +1 validated p.S57L 0.999 157 0% 119 37.8% - - benign(0.177) tolerated(0.09) neutral(0.313) NULL NBN 4683 genome.wustl.edu 37 8 90967655 90967655 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002485.4 -1 reviewed p.S418* 0.002 278 0% 72 38.9% - - - - - NULL NECAB1 64168 genome.wustl.edu 37 8 91962081 91962081 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022351.4 +1 validated p.E303* 1.000 313 0.3% 102 36.3% - - - - - HMMPfam_ABM,superfamily_Dimeric alpha beta barrel RAD54B 25788 genome.wustl.edu 37 8 95392609 95392609 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012415.2 -1 reviewed p.Q671* 0.998 152 0% 125 12% - - - - - superfamily_SSF52540 RAD54B 25788 genome.wustl.edu 37 8 95470506 95470506 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012415.2 -1 reviewed p.P98 0.000 174 0% 61 42.6% - - - - - NULL KIAA1429 25962 genome.wustl.edu 37 8 95501012 95501012 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000442835 -1 known p.A1750V 0.600 179 0% 88 42% - - - - - NULL MTERFD1 51001 genome.wustl.edu 37 8 97269311 97269311 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015942.3 -1 provisional p.M122I 1.000 148 0% 118 39.8% - - benign(0) deleterious(0.02) neutral(0.383) HMMPfam_mTERF POP1 10940 genome.wustl.edu 37 8 99153052 99153052 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015029.2 +1 reviewed p.G510 0.989 104 0% 68 36.8% - - - - - NULL VPS13B 157680 genome.wustl.edu 37 8 100147862 100147862 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017890.3 +1 reviewed p.T488 0.054 356 0% 140 41.4% - - - - - NULL VPS13B 157680 genome.wustl.edu 37 8 100733211 100733211 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017890.3 +1 reviewed p.P2354H 1.000 81 0% 36 38.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL FBXO43 286151 genome.wustl.edu 37 8 101146119 101146119 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001029860.2 -1 validated p.E680* 1.000 267 0% 164 39.6% - - - - - HMMPfam_IBR,HMMSmart_IBR,superfamily_SSF57850 FBXO43 286151 genome.wustl.edu 37 8 101153456 101153456 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001029860.2 -1 validated p.E342D 0.961 119 0% 130 43.1% - - benign(0) tolerated(1) - NULL SNX31 169166 genome.wustl.edu 37 8 101612575 101612575 + Splice_Site SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152628.3 -1 validated e9+2 1.000 350 0.3% 137 35.8% - - - - - - RRM2B 50484 genome.wustl.edu 37 8 103231057 103231057 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015713.4 -1 reviewed p.L223 0.998 108 0% 53 47.2% - - - - - HMMPfam_Ribonuc_red_sm,superfamily_Ferritin-like UBR5 51366 genome.wustl.edu 37 8 103341533 103341533 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015902.4 -1 reviewed p.S398F 0.998 119 0% 54 13% - - benign(0.256) deleterious(0.04) neutral(0.376) NULL KLF10 7071 genome.wustl.edu 37 8 103663491 103663491 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005655.2 -1 validated p.V357I 0.998 94 0% 100 27% - - benign(0.017) deleterious(0.04) neutral(0.349) superfamily_C2H2 and C2HC zinc fingers AZIN1 51582 genome.wustl.edu 37 8 103841680 103841680 + Missense_Mutation SNP C C G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015878.4 -1 reviewed p.S352T 1.000 143 0% 47 21.3% - - probably_damaging(0.996) tolerated(0.08) deleterious(0.762) HMMPfam_Orn_DAP_Arg_deC,superfamily_Racem_decarbox_C ATP6V1C1 528 genome.wustl.edu 37 8 104075266 104075266 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001695.4 +1 reviewed p.R242I 1.000 107 0.9% 30 26.7% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_V-ATPase_C FZD6 8323 genome.wustl.edu 37 8 104340512 104340512 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003506.3 +1 reviewed p.R470Q 1.000 165 0% 37 29.7% - - probably_damaging(0.958) tolerated(0.06) deleterious(0.724) HMMPfam_Frizzled TM7SF4 81501 genome.wustl.edu 37 8 105361055 105361055 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030788.2 +1 reviewed p.R92H 0.977 103 0% 44 43.2% - - benign(0.32) deleterious(0.01) deleterious(0.506) NULL TM7SF4 81501 genome.wustl.edu 37 8 105361532 105361532 + Missense_Mutation SNP T T G rs79659609 byCluster;byFrequency;by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030788.2 +1 reviewed p.F251C 0.970 87 0% 43 27.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DC_STAMP EIF3E 3646 genome.wustl.edu 37 8 109229574 109229574 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001568.2 -1 validated p.V280F 1.000 124 0% 36 36.1% - - possibly_damaging(0.586) deleterious(0.03) deleterious(0.567) NULL EIF3E 3646 genome.wustl.edu 37 8 109252245 109252245 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001568.2 -1 validated p.E89K 1.000 289 0% 128 33.6% - - benign(0.006) tolerated(0.77) neutral(0.001) HMMPfam_eIF3_N PKHD1L1 93035 genome.wustl.edu 37 8 110401349 110401349 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_177531.4 +1 validated p.S222Y 0.779 336 0% 107 34.6% - - benign(0.001) tolerated(0.32) neutral(0.024) HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains KCNV1 27012 genome.wustl.edu 37 8 110980794 110980794 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014379.2 -1 reviewed p.C342W 1.000 51 0% 43 27.9% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CSMD3 114788 genome.wustl.edu 37 8 113275989 113275989 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198123.1 -1 validated p.T3247 1.000 117 0% 23 34.8% - - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD3 114788 genome.wustl.edu 37 8 113303895 113303895 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198123.1 -1 validated p.A2940S 1.000 132 0% 44 31.8% - - probably_damaging(0.98) tolerated(0.1) deleterious(0.710) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD3 114788 genome.wustl.edu 37 8 113392683 113392683 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198123.1 -1 validated p.T2012A 1.000 153 0% 47 42.6% - - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CSMD3 114788 genome.wustl.edu 37 8 113668397 113668397 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198123.1 -1 validated p.K997T 1.000 89 0% 29 31% - - benign(0.002) tolerated(0.15) neutral(0.241) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CSMD3 114788 genome.wustl.edu 37 8 114031325 114031325 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198123.1 -1 validated p.R334Q 1.000 182 0% 142 36.6% - - unknown(0) tolerated(0.1) - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CSMD3 114788 genome.wustl.edu 37 8 114111004 114111004 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198123.1 -1 validated p.S300A 1.000 192 0% 32 28.1% - - unknown(0) tolerated(0.61) - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CSMD3 114788 genome.wustl.edu 37 8 114449016 114449016 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198123.1 -1 validated p.R23K 1.000 119 0% 121 34.7% - - unknown(0) tolerated(1) - NULL TRPS1 7227 genome.wustl.edu 37 8 116616735 116616735 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014112.2 -1 reviewed p.K487N 1.000 88 0% 26 23.1% - - possibly_damaging(0.654) deleterious(0.01) deleterious(0.636) NULL TRPS1 7227 genome.wustl.edu 37 8 116631802 116631802 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014112.2 -1 reviewed p.E175K 0.998 118 0% 41 46.3% - - benign(0.032) deleterious(0.01) neutral(0.407) NULL SLC30A8 169026 genome.wustl.edu 37 8 118184807 118184807 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173851.2 +1 reviewed p.E333K 1.000 60 0% 20 45% - - benign(0.019) tolerated(0.64) neutral(0.004) HMMPfam_Cation_efflux MED30 90390 genome.wustl.edu 37 8 118552203 118552203 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_080651.2 +1 validated p.A175T 1.000 104 0% 23 34.8% - - benign(0.038) tolerated(0.85) neutral(0.003) NULL EXT1 2131 genome.wustl.edu 37 8 118812001 118812001 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000127.2 -1 reviewed p.D731Y 1.000 115 0% 40 27.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Nucleotide-diphospho-sugar transferases EXT1 2131 genome.wustl.edu 37 8 118819526 118819526 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000127.2 -1 reviewed p.R605W 1.000 116 1.7% 48 35.4% - - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_Glyco_transf_64,superfamily_Nucleotide-diphospho-sugar transferases TNFRSF11B 4982 genome.wustl.edu 37 8 119936627 119936627 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002546.3 -1 reviewed p.I398L 1.000 219 0% 120 34.2% - - benign(0.07) deleterious(0.01) neutral(0.411) NULL TNFRSF11B 4982 genome.wustl.edu 37 8 119941044 119941044 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002546.3 -1 reviewed p.Q175H 0.316 280 0% 108 38.9% - - benign(0.001) tolerated(0.16) neutral(0.059) HMMSmart_SM00208 ENPP2 5168 genome.wustl.edu 37 8 120577161 120577161 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006209.3 -1 reviewed p.K774N 1.000 195 0% 65 40% - - probably_damaging(0.996) tolerated(0.43) deleterious(0.475) HMMPfam_Endonuclease_NS,HMMSmart_SM00477,superfamily_His-Me finger endonucleases ENPP2 5168 genome.wustl.edu 37 8 120602777 120602777 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006209.3 -1 reviewed p.R444I 1.000 187 0% 54 40.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Phosphodiest,superfamily_Alkaline phosphatase-like ENPP2 5168 genome.wustl.edu 37 8 120629746 120629746 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006209.3 -1 reviewed p.M179I 1.000 129 0% 50 36% - - benign(0.206) deleterious(0.02) neutral(0.403) HMMPfam_Phosphodiest,superfamily_Alkaline phosphatase-like TAF2 6873 genome.wustl.edu 37 8 120772962 120772962 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003184.3 -1 reviewed p.R859W 0.994 115 0% 44 36.4% - - probably_damaging(1) tolerated(0.12) deleterious(0.760) NULL TAF2 6873 genome.wustl.edu 37 8 120803648 120803648 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003184.3 -1 reviewed p.W443C 1.000 175 0% 53 45.3% - - benign(0.256) tolerated(0.13) neutral(0.279) HMMPfam_Peptidase_M1,superfamily_SSF55486 DEPTOR 64798 genome.wustl.edu 37 8 120886171 120886171 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022783.2 +1 validated p.R29C 1.000 53 0% 54 27.8% - - benign(0.079) deleterious(0) neutral(0.450) superfamily_SSF46785 COL14A1 7373 genome.wustl.edu 37 8 121322266 121322266 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021110.1 +1 validated p.G1474* 1.000 173 0% 71 35.2% - - - - - HMMPfam_Collagen HAS2 3037 genome.wustl.edu 37 8 122626368 122626368 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005328.2 -1 reviewed p.D547G 1.000 135 0% 48 39.6% - - benign(0.009) tolerated(0.09) neutral(0.297) NULL ZHX2 22882 genome.wustl.edu 37 8 123965405 123965405 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014943.3 +1 reviewed p.S552Y 1.000 49 0% 43 18.6% - - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like WDR67 93594 genome.wustl.edu 37 8 124109567 124109567 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_145647.3 +1 validated p.H239 0.147 155 0% 87 31% - - - - - HMMSmart_SM00320,superfamily_WD40 repeat-like ZHX1 11244 genome.wustl.edu 37 8 124266571 124266571 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001017926.1 -1 reviewed p.I539S 0.599 114 0% 44 47.7% - - possibly_damaging(0.449) tolerated(0.09) neutral(0.444) NULL ATAD2 29028 genome.wustl.edu 37 8 124361682 124361682 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014109.3 -1 reviewed p.S550Y 1.000 108 0% 39 51.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00382,HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases KLHL38 340359 genome.wustl.edu 37 8 124664711 124664711 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001081675.2 -1 validated p.K152N 0.000 29 0% 32 31.2% - - benign(0.001) tolerated(0.22) neutral(0.042) HMMPfam_BACK ANXA13 312 genome.wustl.edu 37 8 124707952 124707952 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001003954.1 -1 reviewed p.A164T 0.945 162 0% 86 41.9% - - benign(0.106) tolerated(0.43) neutral(0.021) superfamily_Annexin,PatternScan_ANNEXIN,HMMPfam_Annexin,HMMSmart_SM00335 FAM91A1 157769 genome.wustl.edu 37 8 124790966 124790966 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144963.2 +1 validated p.A168V 1.000 124 0% 49 26.5% - - benign(0.03) tolerated(0.14) neutral(0.251) NULL FER1L6 654463 genome.wustl.edu 37 8 125131155 125131155 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001039112.2 +1 validated p.R1787Q 0.992 80 0% 23 43.5% - - probably_damaging(0.98) deleterious(0) deleterious(0.869) NULL TRMT12 55039 genome.wustl.edu 37 8 125463446 125463446 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017956.3 +1 validated p.V93A 0.072 30 0% 17 35.3% - - benign(0.07) tolerated(0.07) neutral(0.324) NULL MTSS1 9788 genome.wustl.edu 37 8 125580737 125580737 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014751.4 -1 validated p.Q167H 0.961 80 0% 42 38.1% - - benign(0.024) deleterious(0.01) neutral(0.407) HMMPfam_IMD SQLE 6713 genome.wustl.edu 37 8 126021295 126021295 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003129.3 +1 reviewed p.V302A 0.783 146 0% 104 51% - - possibly_damaging(0.501) tolerated(0.07) deleterious(0.487) HMMPfam_SE,superfamily_SSF51905 TRIB1 10221 genome.wustl.edu 37 8 126445730 126445730 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025195.2 +1 validated p.R178W 0.998 58 0% 76 30.3% - - probably_damaging(0.982) deleterious(0.02) deleterious(0.809) HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) MYC 4609 genome.wustl.edu 37 8 128752858 128752858 + Missense_Mutation SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002467.4 +1 reviewed p.V340D 0.888 82 0% 104 42.3% - - benign(0.392) deleterious(0) deleterious(0.570) HMMPfam_Myc_N ASAP1 50807 genome.wustl.edu 37 8 131127951 131127951 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018482.2 -1 validated p.P699S 1.000 232 0.4% 89 28.1% - - benign(0) tolerated(0.45) neutral(0.012) superfamily_ANK OC90 729330 genome.wustl.edu 37 8 133044178 133044178 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080399.2 -1 validated p.G327 0.999 65 0% 23 30.4% - - - - - HMMPfam_Phospholip_A2_1,HMMSmart_SM00085,superfamily_Phospholipase A2 PLA2 HHLA1 10086 genome.wustl.edu 37 8 133100134 133100134 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001145095.1 -1 provisional p.E183* 0.884 182 0% 86 32.6% - - - - - NULL KCNQ3 3786 genome.wustl.edu 37 8 133142115 133142115 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004519.2 -1 reviewed p.K671N 0.000 67 0% 35 48.6% - - benign(0.024) tolerated(0.21) neutral(0.045) NULL TMEM71 137835 genome.wustl.edu 37 8 133740211 133740211 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144649.2 -1 validated p.S151Y 0.012 73 0% 36 47.2% - - probably_damaging(0.981) deleterious(0.01) deleterious(0.831) NULL PHF20L1 51105 genome.wustl.edu 37 8 133806819 133806819 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016018.4 +1 validated p.D83Y 0.543 125 0% 29 44.8% - - possibly_damaging(0.843) deleterious(0.02) deleterious(0.706) superfamily_Tudor/PWWP/MBT PHF20L1 51105 genome.wustl.edu 37 8 133811054 133811054 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016018.4 +1 validated p.R126H 1.000 127 0% 21 52.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00333,HMMSmart_SM00743,superfamily_Tudor/PWWP/MBT WISP1 8840 genome.wustl.edu 37 8 134225253 134225253 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003882.2 +1 reviewed p.G72 1.000 11 0% 26 38.5% - - - - - HMMPfam_IGFBP,HMMSmart_SM00121,PatternScan_IGFBP_N_1 WISP1 8840 genome.wustl.edu 37 8 134237636 134237636 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003882.2 +1 reviewed p.A205D 0.003 24 0% 35 34.3% - - benign(0.061) deleterious(0.04) neutral(0.353) NULL ZFAT 57623 genome.wustl.edu 37 8 135614434 135614434 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020863.3 -1 reviewed p.E510* 1.000 13 0% 17 23.5% - - - - - NULL ZFAT 57623 genome.wustl.edu 37 8 135614978 135614978 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020863.3 -1 reviewed p.C328 0.976 99 0% 117 40.2% - - - - - PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers COL22A1 169044 genome.wustl.edu 37 8 139737654 139737654 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152888.1 -1 validated p.G723 0.757 65 0% 59 45.8% - - - - - HMMPfam_Collagen COL22A1 169044 genome.wustl.edu 37 8 139749813 139749813 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152888.1 -1 validated p.K698T 1.000 130 0% 101 12.9% - - unknown(0) tolerated(0.37) - NULL COL22A1 169044 genome.wustl.edu 37 8 139791761 139791761 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152888.1 -1 validated p.V565 1.000 48 0% 59 39% - - - - - NULL COL22A1 169044 genome.wustl.edu 37 8 139890271 139890271 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152888.1 -1 validated p.R127H 0.044 10 10% 18 50% - - unknown(0) tolerated(0.68) - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like TRAPPC9 83696 genome.wustl.edu 37 8 141262901 141262901 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031466.5 -1 reviewed p.E900D 1.000 44 0% 43 41.9% - - probably_damaging(0.996) tolerated(0.42) deleterious(0.476) HMMPfam_Trs120 EIF2C2 27161 genome.wustl.edu 37 8 141557577 141557577 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012154.3 -1 reviewed p.C572* 1.000 67 0% 158 36.7% - - possibly_damaging(0.469) tolerated(0.1) neutral(0.441) NULL EIF2C2 27161 genome.wustl.edu 37 8 141557713 141557713 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012154.3 -1 reviewed p.A527V 0.013 68 0% 143 44.1% - - - - - NULL DENND3 22898 genome.wustl.edu 37 8 142160973 142160973 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014957.2 +1 validated p.R179Q 0.681 79 0% 107 34.6% - - probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_DENN,HMMSmart_SM00799 GPR20 2843 genome.wustl.edu 37 8 142366977 142366977 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005293.2 -1 validated p.T349 0.000 13 0% 32 53.1% - - - - - NULL GPR20 2843 genome.wustl.edu 37 8 142367704 142367704 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005293.2 -1 validated p.P107L 1.000 34 0% 72 41.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ARC 23237 genome.wustl.edu 37 8 143695124 143695124 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015193.3 -1 validated p.S170N 1.000 17 0% 36 27.8% - - possibly_damaging(0.489) tolerated(0.48) neutral(0.173) NULL LY6K 54742 genome.wustl.edu 37 8 143784610 143784610 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017527.3 +1 validated p.P165T 0.012 119 0% 158 36.1% - - unknown(0) - - superfamily_Snake toxin-like SLURP1 57152 genome.wustl.edu 37 8 143823241 143823241 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020427.2 -1 reviewed p.T53M 0.000 46 0% 94 31.9% - - possibly_damaging(0.812) deleterious(0.01) deleterious(0.711) HMMPfam_UPAR_LY6,HMMSmart_LU,superfamily_SSF57302 LY6D 8581 genome.wustl.edu 37 8 143867082 143867082 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003695.2 -1 validated p.V25A 0.894 28 0% 66 30.3% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_UPAR_LY6,HMMSmart_SM00134,PatternScan_LY6_UPAR,superfamily_Snake toxin-like GML 2765 genome.wustl.edu 37 8 143928032 143928032 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002066.2 +1 validated p.G135* 0.000 138 0% 66 25.8% - - - - - NULL TOP1MT 116447 genome.wustl.edu 37 8 144399895 144399895 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_052963.1 -1 reviewed p.R443H 0.192 24 0% 52 36.5% - - possibly_damaging(0.836) tolerated(0.12) deleterious(0.580) superfamily_DNA_brk_join_enz,HMMSmart_TOPEUc,HMMPfam_Topoisom_I RHPN1 114822 genome.wustl.edu 37 8 144457752 144457752 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_052924.2 +1 validated p.C30 0.000 16 0% 21 47.6% - - - - - superfamily_PKN_effector ZC3H3 23144 genome.wustl.edu 37 8 144620817 144620817 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015117.2 -1 validated p.G240 0.000 7 0.000 26 0.192 - - - - - NULL EEF1D 1936 genome.wustl.edu 37 8 144663400 144663400 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001130053.1 -1 reviewed p.G462 0.952 15 0% 30 40% - - - - - NULL ZNF623 9831 genome.wustl.edu 37 8 144733083 144733083 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014789.3 +1 validated p.Y347 0.000 177 0% 134 38.1% - - - - - HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers FAM83H 286077 genome.wustl.edu 37 8 144811352 144811352 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198488.3 -1 reviewed p.R197C 0.935 18 0% 61 23% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_DUF1669,superfamily_Phospholipase D/nuclease FAM83H 286077 genome.wustl.edu 37 8 144812435 144812435 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198488.3 -1 reviewed p.E106 0.994 17 0% 33 30.3% - - - - - HMMPfam_DUF1669 SCRIB 23513 genome.wustl.edu 37 8 144874797 144874797 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182706.3 -1 validated p.L1396 0.994 19 0% 47 34% - - - - - NULL EPPK1 83481 genome.wustl.edu 37 8 144946346 144946346 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031308.1 -1 validated p.A359V 1.000 6 0.000 31 0.258 - - benign(0.079) deleterious(0) neutral(0.450) HMMPfam_Plectin,HMMSmart_SM00250,superfamily_Plakin repeat PLEC 5339 genome.wustl.edu 37 8 144991293 144991293 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_201380.2 -1 reviewed p.F4369 0.976 19 0% 54 33.3% - - - - - superfamily_Plakin repeat PLEC 5339 genome.wustl.edu 37 8 144992569 144992569 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_201380.2 -1 reviewed p.G3944D 0.999 14 0% 22 40.9% - - probably_damaging(1) - - HMMPfam_Plectin,HMMSmart_SM00250,superfamily_Plakin repeat PLEC 5339 genome.wustl.edu 37 8 144996794 144996794 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_201380.2 -1 reviewed p.E2572K 1.000 26 0% 65 44.6% - - possibly_damaging(0.917) - - NULL PARP10 84875 genome.wustl.edu 37 8 145057192 145057192 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032789.3 -1 validated p.R822C 0.000 13 0% 35 45.7% - - benign(0.014) deleterious(0.03) neutral(0.365) HMMPfam_PARP,superfamily_SSF56399 HSF1 3297 genome.wustl.edu 37 8 145533467 145533467 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005526.2 +1 reviewed p.L125M 0.643 12 0% 45 42.2% - - benign(0.053) deleterious(0.05) neutral(0.349) HMMPfam_HSF_DNA-bind ADCK5 203054 genome.wustl.edu 37 8 145616197 145616197 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_174922.3 +1 validated p.E162K 0.998 58 0% 98 35.7% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL CPSF1 29894 genome.wustl.edu 37 8 145621891 145621891 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013291.2 -1 validated p.G916 0.000 66 0% 163 42.9% - - - - - NULL CPSF1 29894 genome.wustl.edu 37 8 145623259 145623259 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013291.2 -1 validated p.A661 0.006 11 0% 41 26.8% - - - - - NULL TONSL 4796 genome.wustl.edu 37 8 145661656 145661656 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013432.4 -1 reviewed p.P720 0.000 14 0% 22 22.7% - - - - - NULL MFSD3 113655 genome.wustl.edu 37 8 145736019 145736019 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138431.1 +1 provisional p.R290H 0.463 50 0% 138 29% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter RECQL4 9401 genome.wustl.edu 37 8 145737090 145737090 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000428558 -1 known p.A1159V 1.000 18 0% 52 48.1% - - - - - NULL LRRC14 9684 genome.wustl.edu 37 8 145745324 145745324 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014665.1 +1 provisional p.S72N 1.000 26 0% 59 13.6% - - benign(0.301) tolerated(0.53) neutral(0.101) NULL ZNF250 58500 genome.wustl.edu 37 8 146107503 146107503 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021061.3 -1 validated p.I360 0.187 139 0% 119 38.7% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF16 7564 genome.wustl.edu 37 8 146157151 146157151 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001029976.2 -1 reviewed p.R341I 0.979 140 0% 95 32.6% - - probably_damaging(0.997) tolerated(0.05) deleterious(0.811) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF16 7564 genome.wustl.edu 37 8 146157848 146157848 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001029976.2 -1 reviewed p.L109M 0.002 90 1.1% 79 43% - - probably_damaging(0.998) tolerated(0.22) deleterious(0.516) NULL ZNF16 7564 genome.wustl.edu 37 8 146171551 146171551 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001029976.2 -1 reviewed p.E14D 0.045 31 0% 51 31.4% - - possibly_damaging(0.45) deleterious(0) deleterious(0.592) NULL C8orf33 65265 genome.wustl.edu 37 8 146278729 146278729 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_023080.2 +1 validated p.T150 0.012 75 0% 143 35% - - - - - NULL DOCK8 81704 genome.wustl.edu 37 9 452083 452083 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_203447.3 +1 reviewed p.K1944E 1.000 97 0% 44 34.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ded_cyto KANK1 23189 genome.wustl.edu 37 9 732502 732502 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015158.2 +1 reviewed p.R1044W 0.103 87 0% 42 47.6% - - probably_damaging(0.965) deleterious(0.03) deleterious(0.771) superfamily_ANK DMRT3 58524 genome.wustl.edu 37 9 990745 990745 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021240.2 +1 validated p.N387D 1.000 59 0% 41 29.3% - - possibly_damaging(0.791) deleterious(0.01) deleterious(0.702) NULL SMARCA2 6595 genome.wustl.edu 37 9 2115925 2115925 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003070.3 +1 reviewed p.A1187V 1.000 30 0% 18 27.8% - - benign(0.355) tolerated(0.1) neutral(0.399) superfamily_P-loop containing nucleoside triphosphate hydrolases SMARCA2 6595 genome.wustl.edu 37 9 2186134 2186134 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003070.3 +1 reviewed p.K1500 1.000 168 0% 54 31.5% - - - - - HMMSmart_SM00297,superfamily_Bromodomain RCL1 10171 genome.wustl.edu 37 9 4823588 4823588 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005772.3 +1 validated p.T59 0.143 217 0% 127 35.4% - - - - - HMMPfam_RTC,superfamily_RNA3apos_cycl/enolpyr_transf_A/B INSL4 3641 genome.wustl.edu 37 9 5233739 5233739 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002195.1 +1 reviewed p.K94N 0.008 76 0% 30 36.7% - - benign(0.348) deleterious(0) deleterious(0.554) NULL KIAA1432 57589 genome.wustl.edu 37 9 5763492 5763492 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020829.2 +1 validated p.R743I 1.000 126 0% 45 37.8% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_RIC1 KIAA1432 57589 genome.wustl.edu 37 9 5769104 5769104 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020829.2 +1 validated p.I1012S 0.998 45 0% 23 34.8% - - possibly_damaging(0.83) deleterious(0) deleterious(0.760) NULL KIAA1432 57589 genome.wustl.edu 37 9 5772975 5772975 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020829.2 +1 validated p.I1214T 1.000 150 0% 45 8.9% - - benign(0.048) deleterious(0.01) neutral(0.409) NULL ERMP1 79956 genome.wustl.edu 37 9 5797933 5797933 + Splice_Site SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024896.2 -1 validated e13-1 1.000 117 0% 59 33.9% - - - - - - ERMP1 79956 genome.wustl.edu 37 9 5823955 5823955 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024896.2 -1 validated p.R272H 1.000 177 0% 120 40% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Peptidase_M28,superfamily_Zn-dependent exopeptidases KIAA2026 158358 genome.wustl.edu 37 9 5922566 5922566 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001017969.2 -1 validated p.N1144H 0.723 270 0% 97 10.3% - - benign(0) deleterious(0.03) neutral(0.364) NULL KIAA2026 158358 genome.wustl.edu 37 9 5922912 5922912 + Silent SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001017969.2 -1 validated p.T1028 0.920 161 0% 64 37.5% - - - - - NULL UHRF2 115426 genome.wustl.edu 37 9 6482018 6482018 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152896.1 +1 reviewed p.R437S 1.000 261 0% 123 37.4% - - benign(0.085) tolerated(0.1) neutral(0.292) NULL UHRF2 115426 genome.wustl.edu 37 9 6500582 6500582 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152896.1 +1 reviewed p.K679T 0.562 114 0% 42 35.7% - - probably_damaging(0.999) tolerated(0.16) deleterious(0.550) NULL GLDC 2731 genome.wustl.edu 37 9 6644632 6644632 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000170.2 -1 reviewed p.K106E 1.000 112 0% 213 43.2% - - benign(0.117) tolerated(0.45) neutral(0.021) superfamily_PyrdxlP-dep_Trfase_major,HMMPfam_GDC-P KDM4C 23081 genome.wustl.edu 37 9 6814672 6814672 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015061.3 +1 reviewed p.R121H 1.000 187 0% 130 27.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL LOC100287684 100287684 genome.wustl.edu 37 9 6834578 6834578 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002342904.1 -1 model p.A300 1.000 28 0% 25 24% - - - - - NULL KDM4C 23081 genome.wustl.edu 37 9 7128233 7128233 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015061.3 +1 reviewed p.I926 0.233 79 0% 38 47.4% - - - - - HMMSmart_SM00333,superfamily_Tudor/PWWP/MBT PTPRD 5789 genome.wustl.edu 37 9 8340380 8340380 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002839.3 -1 reviewed p.I1739T 1.000 131 0% 20 25% - - possibly_damaging(0.705) deleterious(0.03) deleterious(0.619) HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II PTPRD 5789 genome.wustl.edu 37 9 8376022 8376022 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002839.3 -1 reviewed p.P1525 1.000 147 0% 28 46.4% - - - - - HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II PTPRD 5789 genome.wustl.edu 37 9 8518261 8518261 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002839.3 -1 reviewed p.R377H 1.000 150 0% 34 29.4% - - probably_damaging(0.997) tolerated(0.17) deleterious(0.525) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III LURAP1L 286343 genome.wustl.edu 37 9 12775744 12775744 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_203403.1 +1 validated p.R10 1.000 11 0% 14 28.6% - - - - - NULL NFIB 4781 genome.wustl.edu 37 9 14120612 14120612 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005596.2 -1 validated p.R358* 1.000 191 0% 59 37.3% - - - - - HMMPfam_CTF_NFI C9orf93 203238 genome.wustl.edu 37 9 15744303 15744303 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173550.2 +1 predicted p.E694D 1.000 48 0% 13 30.8% - - benign(0.181) tolerated(0.33) neutral(0.041) NULL ADAMTSL1 92949 genome.wustl.edu 37 9 18908468 18908468 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001040272.4 +1 validated p.C1737 1.000 79 0% 81 17.3% - - - - - HMMPfam_PLAC FAM154A 158297 genome.wustl.edu 37 9 18928370 18928370 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153707.1 -1 predicted p.D369N 1.000 76 0% 68 38.2% - - probably_damaging(0.989) deleterious(0.02) deleterious(0.823) NULL PLIN2 123 genome.wustl.edu 37 9 19126264 19126264 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001122.2 -1 reviewed p.T25M 1.000 121 0% 153 30.1% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Perilipin DENND4C 55667 genome.wustl.edu 37 9 19372159 19372159 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017925.4 +1 provisional p.A1670 0.022 119 0% 77 28.6% - - - - - NULL LOC392288 392288 genome.wustl.edu 37 9 19461275 19461275 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_373277.5 -1 model p.R261 0.000 52 0% 69 34.8% - - - - - superfamily_Ubiquitin-like KIAA1797 54914 genome.wustl.edu 37 9 20820381 20820381 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017794.3 +1 validated p.R540K 0.908 111 0% 12 33.3% - - benign(0.001) tolerated(0.2) neutral(0.049) NULL KIAA1797 54914 genome.wustl.edu 37 9 20976541 20976541 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017794.3 +1 validated p.N1419H 0.991 157 0% 40 40% - - probably_damaging(0.972) deleterious(0.05) deleterious(0.759) superfamily_ARM-type_fold IFNA14 3448 genome.wustl.edu 37 9 21239639 21239639 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002172.2 -1 validated p.A99V 0.005 218 0% 60 33.3% - - possibly_damaging(0.512) deleterious(0.03) deleterious(0.536) HMMPfam_Interferon,HMMSmart_IFabd,superfamily_4_helix_cytokine KLHL9 55958 genome.wustl.edu 37 9 21333154 21333154 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018847.2 -1 validated p.P569T 1.000 322 0.3% 327 37.6% - - probably_damaging(0.998) tolerated(0.36) deleterious(0.494) HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain IFNA6 3443 genome.wustl.edu 37 9 21350850 21350850 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021002.2 -1 validated p.V13M 0.600 137 0% 49 40.8% - - benign(0.343) tolerated(0.11) neutral(0.380) HMMPfam_Interferon PLAA 9373 genome.wustl.edu 37 9 26910336 26910336 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001031689.2 -1 validated p.G553C 1.000 134 0% 60 41.7% - - probably_damaging(0.999) tolerated(0.09) deleterious(0.787) HMMPfam_PUL LRRC19 64922 genome.wustl.edu 37 9 26995553 26995553 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022901.2 -1 validated p.Y360C 0.998 150 0% 52 40.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TEK 7010 genome.wustl.edu 37 9 27157860 27157860 + Silent SNP G G A rs138550182 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000459.3 +1 reviewed p.L28 1.000 94 0% 46 37% - - - - - HMMPfam_Ig_Tie2_1 C9orf11 54586 genome.wustl.edu 37 9 27296683 27296683 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020641.2 -1 validated p.N44D 0.000 175 0% 107 32.7% - - benign(0.119) tolerated(0.12) neutral(0.270) NULL IFNK 56832 genome.wustl.edu 37 9 27524634 27524634 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020124.2 +1 reviewed p.Q100 0.000 97 0% 110 29.1% - - - - - HMMPfam_Interferon,HMMSmart_SM00076,superfamily_4-helical cytokines C9orf72 203228 genome.wustl.edu 37 9 27548560 27548560 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018325.2 -1 validated p.D418 1.000 117 0% 37 56.8% - - - - - NULL ENSG00000211510 0 genome.wustl.edu 37 9 30774250 30774250 + RNA SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000390176 +1 novel NULL 0.951 15 0% 19 42.1% - - - - - - DDX58 23586 genome.wustl.edu 37 9 32467809 32467809 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014314.3 -1 reviewed p.V712 0.999 160 0% 59 39% - - - - - HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases TOPORS 10210 genome.wustl.edu 37 9 32543853 32543853 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005802.3 -1 reviewed p.D224Y 1.000 93 0% 66 12.1% - - unknown(0) deleterious(0.02) - NULL TAF1L 138474 genome.wustl.edu 37 9 32630856 32630856 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153809.2 -1 provisional p.K1574N 1.000 297 0% 122 38.5% - - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_Bromodomain,HMMSmart_BROMO,superfamily_Bromodomain,PatternScan_BROMODOMAIN_1 TAF1L 138474 genome.wustl.edu 37 9 32632387 32632387 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153809.2 -1 provisional p.S1064I 1.000 405 0% 168 34.5% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL NFX1 4799 genome.wustl.edu 37 9 33295129 33295129 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002504.3 +1 reviewed p.P246H 0.998 131 0% 119 31.1% - - benign(0.11) deleterious(0) neutral(0.453) NULL NOL6 65083 genome.wustl.edu 37 9 33462719 33462719 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022917.4 -1 reviewed p.V1128 0.319 145 0% 237 42.2% - - - - - HMMPfam_Nrap NOL6 65083 genome.wustl.edu 37 9 33465308 33465308 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022917.4 -1 reviewed p.R860W 1.000 19 0% 30 46.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Nrap NOL6 65083 genome.wustl.edu 37 9 33469502 33469502 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022917.4 -1 reviewed p.P241L 1.000 89 0% 144 17.4% - - probably_damaging(0.986) deleterious(0.01) deleterious(0.840) HMMPfam_Nrap NOL6 65083 genome.wustl.edu 37 9 33472106 33472106 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022917.4 -1 reviewed p.L92 0.996 77 0% 82 45.1% - - - - - NULL ANKRD18B 441459 genome.wustl.edu 37 9 33548710 33548710 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_001718334.2 +1 model p.E708K 0.256 133 0% 59 39% - - probably_damaging(0.984) tolerated(0.09) deleterious(0.727) NULL DCAF12 25853 genome.wustl.edu 37 9 34126353 34126353 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015397.3 -1 reviewed p.Q26R 1.000 13 0% 31 38.7% - - benign(0.079) tolerated(0.06) neutral(0.328) NULL UBAP1 51271 genome.wustl.edu 37 9 34250704 34250704 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016525.4 +1 reviewed p.D439N 1.000 165 0% 116 34.5% - - probably_damaging(0.975) deleterious(0.04) deleterious(0.766) NULL KIAA1161 57462 genome.wustl.edu 37 9 34371951 34371951 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000297625 -1 known p.D297Y 1.000 41 0% 96 35.4% - - benign(0.009) deleterious(0.03) neutral(0.365) HMMPfam_Glyco_hydro_31,superfamily_(Trans)glycosidases CNTFR 1271 genome.wustl.edu 37 9 34564665 34564665 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000351266 -1 known p.S84I 1.000 96 0% 165 13.9% - - possibly_damaging(0.918) deleterious(0.05) deleterious(0.714) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin RPP25L 138716 genome.wustl.edu 37 9 34611010 34611010 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_148178.1 -1 validated p.S95N 1.000 21 0% 56 30.4% - - benign(0.332) tolerated(0.3) neutral(0.133) superfamily_SSF82704 GALT 2592 genome.wustl.edu 37 9 34647914 34647914 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000155.2 +1 reviewed p.A155T 1.000 140 0% 215 32.1% - - benign(0.004) tolerated(0.5) neutral(0.010) HMMPfam_GalP_UDP_transf,superfamily_HIT-like DNAJB5 25822 genome.wustl.edu 37 9 34996541 34996541 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001135005.1 +1 validated p.R236H 0.996 54 0% 65 40% - - benign(0.085) tolerated(0.06) neutral(0.329) NULL VCP 7415 genome.wustl.edu 37 9 35059111 35059111 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007126.3 -1 reviewed p.E704K 1.000 65 0% 58 27.6% - - benign(0.042) tolerated(0.24) neutral(0.040) superfamily_P-loop containing nucleoside triphosphate hydrolases VCP 7415 genome.wustl.edu 37 9 35060843 35060843 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007126.3 -1 reviewed p.I479 0.968 92 0% 60 40% - - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases VCP 7415 genome.wustl.edu 37 9 35062231 35062231 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007126.3 -1 reviewed p.A310T 1.000 181 0% 120 41.7% - - benign(0.207) deleterious(0) neutral(0.465) HMMSmart_SM00382,HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases FANCG 2189 genome.wustl.edu 37 9 35074161 35074161 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004629.1 -1 reviewed p.R605C 0.002 82 0% 121 9.9% - - benign(0) tolerated(0.15) neutral(0.241) NULL FAM214B 80256 genome.wustl.edu 37 9 35105706 35105706 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025182.2 -1 predicted p.R479H 1.000 64 0% 118 44.1% - - probably_damaging(0.965) deleterious(0.01) deleterious(0.812) NULL FAM214B 80256 genome.wustl.edu 37 9 35107795 35107795 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025182.2 -1 predicted p.D159E 1.000 13 0% 47 23.4% - - possibly_damaging(0.893) deleterious(0) deleterious(0.796) NULL LOC730110 730110 genome.wustl.edu 37 9 35148725 35148725 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002342891.1 -1 model p.V153F 0.975 161 0% 70 31.4% - - - - - superfamily_C2H2 and C2HC zinc fingers UNC13B 10497 genome.wustl.edu 37 9 35381182 35381182 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006377.3 +1 reviewed p.P738 0.123 110 0% 74 39.2% - - - - - NULL UNC13B 10497 genome.wustl.edu 37 9 35403481 35403481 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006377.3 +1 reviewed p.R1459 1.000 59 0% 52 21.2% - - - - - HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB CA9 768 genome.wustl.edu 37 9 35679202 35679202 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001216.2 +1 reviewed p.G310* 1.000 151 0% 207 35.7% - - - - - HMMPfam_Carb_anhydrase,superfamily_Euk_COanhd GBA2 57704 genome.wustl.edu 37 9 35744648 35744648 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020944.2 -1 reviewed p.D139N 1.000 107 0.9% 147 36.1% - - probably_damaging(1) tolerated(0.1) deleterious(0.786) NULL C9orf128 392307 genome.wustl.edu 37 9 35818911 35818911 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000423537 -1 known p.R383W 0.063 42 0% 90 26.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TMEM8B 51754 genome.wustl.edu 37 9 35846586 35846586 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001042589.1 +1 provisional p.Y206 0.512 7 0.000 16 0.438 - - - - - NULL GLIPR2 152007 genome.wustl.edu 37 9 36148567 36148567 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022343.2 +1 provisional p.T49M 0.998 90 0% 120 35.8% - - possibly_damaging(0.884) tolerated(0.15) deleterious(0.586) HMMSmart_SCP,HMMPfam_SCP,superfamily_SCP-like_extracellular GNE 10020 genome.wustl.edu 37 9 36222852 36222852 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001128227.1 -1 reviewed p.N550D 1.000 98 0% 74 32.4% - - possibly_damaging(0.752) deleterious(0) deleterious(0.721) HMMPfam_ROK,superfamily_SSF53067 RNF38 152006 genome.wustl.edu 37 9 36356413 36356413 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022781.4 -1 reviewed p.L266I 1.000 322 0% 177 39.5% - - benign(0.006) deleterious(0.01) neutral(0.406) NULL GRHPR 9380 genome.wustl.edu 37 9 37424882 37424882 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012203.1 +1 reviewed p.A42T 0.000 23 0% 38 36.8% - - benign(0.236) tolerated(0.06) neutral(0.346) HMMPfam_2-Hacid_dh,superfamily_Formate/glycerate dehydrogenase catalytic domain-like FBXO10 26267 genome.wustl.edu 37 9 37516027 37516027 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012166.2 -1 validated p.R857H 0.147 240 0% 218 37.6% - - benign(0) tolerated(0.13) neutral(0.253) superfamily_Pectin_lyas_like FBXO10 26267 genome.wustl.edu 37 9 37522823 37522823 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012166.2 -1 validated p.Y643 0.999 106 0% 85 38.8% - - - - - HMMSmart_PbH1,HMMSmart_CASH FBXO10 26267 genome.wustl.edu 37 9 37537228 37537228 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012166.2 -1 validated p.R433H 1.000 25 0% 22 40.9% - - probably_damaging(0.994) deleterious(0.03) deleterious(0.817) HMMSmart_PbH1,HMMSmart_CASH,superfamily_Pectin_lyas_like C9orf51 647044 genome.wustl.edu 37 9 38527792 38527792 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000377689 +1 known p.Q233 0.407 65 0% 101 34.7% - - - - - NULL LOC389722 389722 genome.wustl.edu 37 9 43853592 43853592 + Missense_Mutation SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002342910.1 +1 model p.F618I 0.182 75 0% 59 16.9% - - possibly_damaging(0.903) tolerated(0.25) neutral(0.395) superfamily_Fibrinogen C-terminal domain-like,superfamily_Concanavalin A-like lectins/glucanases PRKACG 5568 genome.wustl.edu 37 9 71628866 71628866 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002732.3 -1 reviewed p.R48M 0.952 76 0% 110 43.6% - - probably_damaging(0.984) deleterious(0) deleterious(0.875) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase TJP2 9414 genome.wustl.edu 37 9 71827472 71827472 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004817.3 +1 reviewed p.G23 1.000 158 0% 163 11.7% - - - - - superfamily_PDZ domain-like APBA1 320 genome.wustl.edu 37 9 72131024 72131024 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001163.3 -1 reviewed p.P368L 1.000 23 0% 39 25.6% - - probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL MAMDC2 256691 genome.wustl.edu 37 9 72741174 72741174 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153267.4 +1 validated p.S248* 0.993 70 0% 23 39.1% - - - - - HMMPfam_MAM,HMMSmart_SM00137 TRPM3 80036 genome.wustl.edu 37 9 73254044 73254044 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001007471.2 -1 reviewed p.L505F 1.000 106 0% 34 38.2% - - probably_damaging(0.959) deleterious(0) deleterious(0.847) NULL TMEM2 23670 genome.wustl.edu 37 9 74337431 74337431 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013390.2 -1 validated p.A727T 1.000 172 1.2% 32 40.6% - - probably_damaging(0.971) tolerated(0.52) neutral(0.421) superfamily_Pectin lyase-like ZFAND5 7763 genome.wustl.edu 37 9 74975616 74975616 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001102420.1 -1 validated p.N27H 1.000 142 0% 148 34.5% - - possibly_damaging(0.911) deleterious(0) deleterious(0.807) HMMPfam_zf-A20,HMMSmart_SM00259 TMC1 117531 genome.wustl.edu 37 9 75387444 75387444 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138691.2 +1 reviewed p.G286E 1.000 267 0% 157 28% - - probably_damaging(0.997) tolerated(0.08) deleterious(0.766) NULL C9orf95 54981 genome.wustl.edu 37 9 77684837 77684837 + Silent SNP G G A rs144657237 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017881.2 -1 validated p.I97 0.148 131 0% 37 37.8% - - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases VPS13A 23230 genome.wustl.edu 37 9 79853068 79853068 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033305.2 +1 reviewed p.C582 1.000 94 0% 36 33.3% - - - - - NULL VPS13A 23230 genome.wustl.edu 37 9 79930294 79930294 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033305.2 +1 reviewed p.F1513C 1.000 250 0.4% 76 11.8% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL VPS13A 23230 genome.wustl.edu 37 9 79955109 79955109 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033305.2 +1 reviewed p.T2264A 1.000 182 0% 72 45.8% - - possibly_damaging(0.798) tolerated(0.06) deleterious(0.623) HMMPfam_DUF1162 VPS13A 23230 genome.wustl.edu 37 9 79986002 79986002 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033305.2 +1 reviewed p.A3005V 1.000 236 0.4% 84 38.1% - - probably_damaging(1) tolerated(1) deleterious(0.500) NULL GNAQ 2776 genome.wustl.edu 37 9 80537187 80537187 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002072.2 -1 provisional p.D71Y 1.000 211 0% 51 33.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_G-alpha,superfamily_Transducin (alpha subunit) insertion domain,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases TLE4 7091 genome.wustl.edu 37 9 82191127 82191127 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000461758 +1 known p.S96N 0.003 128 0% 122 31.1% - - unknown(0) deleterious(0) - HMMPfam_TLE_N TLE1 7088 genome.wustl.edu 37 9 84226713 84226713 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005077.3 -1 provisional p.A409T 1.000 21 0% 31 41.9% - - possibly_damaging(0.53) tolerated(0.26) neutral(0.213) NULL FAM75D1 389763 genome.wustl.edu 37 9 84606957 84606957 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001001670.2 +1 validated p.G524 0.000 337 0% 165 37.6% - - - - - NULL FRMD3 257019 genome.wustl.edu 37 9 85926820 85926820 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_174938.4 -1 validated p.R252I 1.000 150 0% 160 43.1% - - probably_damaging(0.979) deleterious(0) deleterious(0.867) HMMPfam_FERM_C,superfamily_PH domain-like RMI1 80010 genome.wustl.edu 37 9 86616937 86616937 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024945.2 +1 validated p.D346N 0.000 83 0% 23 39.1% - - benign(0.001) tolerated(1) - NULL SLC28A3 64078 genome.wustl.edu 37 9 86928308 86928308 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022127.1 -1 provisional p.A41V 0.003 420 0% 171 36.8% - - benign(0) tolerated(1) - NULL AGTPBP1 23287 genome.wustl.edu 37 9 88296182 88296182 + Splice_Site SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015239.2 -1 validated e3+1 1.000 283 0% 123 32.5% - - - - - - ZCCHC6 79670 genome.wustl.edu 37 9 88925718 88925718 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024617.3 -1 validated p.R1094I 1.000 157 0% 218 33.9% - - possibly_damaging(0.907) deleterious(0.04) deleterious(0.710) HMMPfam_NTP_transf_2,superfamily_Nucleotidyltransferase C9orf170 401535 genome.wustl.edu 37 9 89771630 89771630 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001001709.2 +1 validated p.S104N 0.000 111 0% 73 39.7% - - unknown(0) - - NULL DAPK1 1612 genome.wustl.edu 37 9 90252943 90252943 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004938.2 +1 reviewed p.L124F 1.000 168 0% 111 31.5% - - possibly_damaging(0.941) deleterious(0) deleterious(0.831) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase DAPK1 1612 genome.wustl.edu 37 9 90255331 90255331 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004938.2 +1 reviewed p.D250Y 1.000 96 0% 71 40.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase C9orf79 286234 genome.wustl.edu 37 9 90499927 90499927 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178828.4 +1 validated p.Q175 0.018 36 0% 47 31.9% - - - - - NULL C9orf79 286234 genome.wustl.edu 37 9 90503200 90503200 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178828.4 +1 validated p.K1266N 0.000 40 0% 62 33.9% - - probably_damaging(0.983) tolerated(0.31) neutral(0.456) NULL SPTLC1 10558 genome.wustl.edu 37 9 94843211 94843211 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006415.2 -1 reviewed p.E99* 0.997 207 0% 68 48.5% - - - - - HMMPfam_Aminotran_1_2,superfamily_PLP-dependent transferases NOL8 55035 genome.wustl.edu 37 9 95078288 95078288 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017948.5 -1 validated p.R207* 0.948 189 0% 75 33.3% - - - - - NULL OMD 4958 genome.wustl.edu 37 9 95179486 95179486 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005014.2 -1 validated p.E119* 1.000 248 0% 82 34.1% - - - - - HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like ECM2 1842 genome.wustl.edu 37 9 95267838 95267838 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001393.2 -1 reviewed p.Q481K 1.000 43 0% 38 39.5% - - possibly_damaging(0.946) tolerated(0.48) neutral(0.401) superfamily_SSF52058 ECM2 1842 genome.wustl.edu 37 9 95272235 95272235 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001393.2 -1 reviewed p.E418* 1.000 151 0% 77 36.4% - - - - - HMMPfam_LRR_1,superfamily_SSF52058 ECM2 1842 genome.wustl.edu 37 9 95277031 95277031 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001393.2 -1 reviewed p.G312 0.000 192 0% 105 36.2% - - - - - superfamily_SSF52058 BICD2 23299 genome.wustl.edu 37 9 95477492 95477492 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001003800.1 -1 reviewed p.T838A 0.746 8 0.000 15 0.333 - - benign(0) tolerated(0.97) - NULL ZNF484 83744 genome.wustl.edu 37 9 95609386 95609386 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031486.1 -1 provisional p.F561L 0.374 221 0% 131 37.4% - - probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 WNK2 65268 genome.wustl.edu 37 9 96024135 96024135 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006648.3 +1 reviewed p.A1036T 0.011 11 0% 31 29% - - benign(0.01) tolerated(0.51) neutral(0.009) NULL WNK2 65268 genome.wustl.edu 37 9 96055429 96055429 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000411624 +1 known p.E1498* 1.000 12 0% 40 45% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL C9orf129 445577 genome.wustl.edu 37 9 96097834 96097834 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001098808.1 -1 provisional p.E63K 0.999 131 0% 233 31.8% - - probably_damaging(0.971) deleterious(0) deleterious(0.857) NULL PHF2 5253 genome.wustl.edu 37 9 96422512 96422512 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005392.3 +1 reviewed p.V456 0.000 28 0% 60 28.3% - - - - - NULL PHF2 5253 genome.wustl.edu 37 9 96438039 96438039 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005392.3 +1 reviewed p.L934 0.945 31 0% 60 36.7% - - - - - NULL ZNF169 169841 genome.wustl.edu 37 9 97063233 97063233 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_194320.2 +1 validated p.R465C 0.982 127 0% 76 10.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 FAM22F 54754 genome.wustl.edu 37 9 97081092 97081092 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000434357 -1 known p.R542C 0.002 127 0% 165 26.1% - - - - - NULL HIATL1 84641 genome.wustl.edu 37 9 97177499 97177499 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032558.2 +1 validated p.F56L 1.000 396 0% 217 32.3% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter FANCC 2176 genome.wustl.edu 37 9 97864063 97864063 + Missense_Mutation SNP G G A rs185822330 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000136.2 -1 reviewed p.R535C 0.045 83 0% 172 34.3% - - possibly_damaging(0.936) deleterious(0) deleterious(0.826) HMMPfam_Fanconi_C PTCH1 5727 genome.wustl.edu 37 9 98242736 98242736 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000264.3 -1 reviewed p.R294H 1.000 140 0% 99 34.3% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Patched C9orf102 375748 genome.wustl.edu 37 9 98775222 98775222 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000407474 +1 known p.L445I 0.283 48 0% 34 35.3% - - possibly_damaging(0.923) tolerated(0.37) neutral(0.392) NULL CTSL2 1515 genome.wustl.edu 37 9 99799668 99799668 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001333.2 -1 reviewed p.F88L 1.000 190 0% 255 36.9% - - benign(0.193) deleterious(0.01) neutral(0.424) HMMPfam_Inhibitor_I29,superfamily_SSF54001 C9orf174 100499483 genome.wustl.edu 37 9 100122377 100122377 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020893.1 +1 predicted p.V1174 0.012 75 0% 79 38% - - - - - NULL HEMGN 55363 genome.wustl.edu 37 9 100692686 100692686 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018437.3 -1 validated p.E331K 0.158 451 0.2% 364 32.7% - - benign(0.002) deleterious(0.04) neutral(0.349) NULL ANP32B 10541 genome.wustl.edu 37 9 100773572 100773572 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006401.2 +1 validated p.D179 0.049 568 0% 248 35.9% - - - - - NULL GABBR2 9568 genome.wustl.edu 37 9 101125026 101125026 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005458.7 -1 reviewed p.R622* 0.998 28 0% 23 34.8% - - - - - HMMPfam_7tm_3 GABBR2 9568 genome.wustl.edu 37 9 101125027 101125027 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005458.7 -1 reviewed p.L621 1.000 29 0% 25 20% - - - - - HMMPfam_7tm_3 GABBR2 9568 genome.wustl.edu 37 9 101156534 101156534 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005458.7 -1 reviewed p.S434I 1.000 118 0% 79 36.7% - - benign(0.045) deleterious(0) neutral(0.447) superfamily_SSF53822 ANKS6 203286 genome.wustl.edu 37 9 101552522 101552522 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173551.3 -1 provisional p.Q242H 1.000 23 0% 59 44.1% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat KRT8P11 347265 genome.wustl.edu 37 9 102068638 102068638 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000409686 +1 known p.E415 1.000 17 0% 28 39.3% - - - - - HMMPfam_Filament NR4A3 8013 genome.wustl.edu 37 9 102607063 102607063 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173200.1 +1 reviewed p.K474E 0.997 135 0% 50 34% - - possibly_damaging(0.558) tolerated(0.53) neutral(0.198) HMMPfam_Hormone_recep,HMMSmart_HOLI,superfamily_Str_ncl_receptor INVS 27130 genome.wustl.edu 37 9 103002390 103002390 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014425.2 +1 reviewed p.R222* 0.999 111 0% 36 30.6% - - - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat TEX10 54881 genome.wustl.edu 37 9 103088718 103088718 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017746.3 -1 validated p.Q615H 1.000 70 0% 36 44.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL LPPR1 54886 genome.wustl.edu 37 9 104079657 104079657 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017753.2 +1 reviewed p.V275A 1.000 85 0% 33 48.5% - - probably_damaging(1) tolerated(0.58) deleterious(0.505) HMMPfam_PAP2 ZNF189 7743 genome.wustl.edu 37 9 104171570 104171570 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003452.2 +1 validated p.T507I 1.000 155 0% 55 12.7% - - probably_damaging(0.98) deleterious(0) deleterious(0.869) superfamily_C2H2 and C2HC zinc fingers ALDOB 229 genome.wustl.edu 37 9 104187224 104187224 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000035.3 -1 reviewed p.F300L 1.000 75 0% 26 61.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glycolytic,superfamily_Aldolase C9orf125 84302 genome.wustl.edu 37 9 104239111 104239111 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032342.1 -1 provisional p.G88 0.048 37 0% 49 34.7% - - - - - NULL C9orf125 84302 genome.wustl.edu 37 9 104239215 104239215 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032342.1 -1 provisional p.R54C 0.997 48 0% 46 34.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PPP3R2 5535 genome.wustl.edu 37 9 104356907 104356907 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_147180.2 -1 provisional p.Y102 1.000 91 0% 108 37% - - - - - HMMSmart_EFh,HMMPfam_efhand,superfamily_SSF47473 CYLC2 1539 genome.wustl.edu 37 9 105767344 105767344 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001340.3 +1 reviewed p.G144D 0.000 170 0% 100 36% - - unknown(0) tolerated(0.74) - NULL CYLC2 1539 genome.wustl.edu 37 9 105767357 105767357 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001340.3 +1 reviewed p.E148D 0.000 172 0% 110 39.1% - - unknown(0) tolerated(0.53) - NULL ABCA1 19 genome.wustl.edu 37 9 107548608 107548608 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005502.2 -1 reviewed p.C2124* 0.995 117 0% 48 31.2% - - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases ABCA1 19 genome.wustl.edu 37 9 107576417 107576417 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005502.2 -1 reviewed p.D1295Y 1.000 45 0% 33 39.4% - - possibly_damaging(0.903) deleterious(0.02) deleterious(0.741) NULL ZNF462 58499 genome.wustl.edu 37 9 109689356 109689356 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021224.4 +1 validated p.E1055K 1.000 186 0% 167 35.3% - - probably_damaging(0.989) deleterious(0) deleterious(0.884) superfamily_C2H2 and C2HC zinc fingers,superfamily_beta-sandwich domain of Sec23/24 ZNF462 58499 genome.wustl.edu 37 9 109734437 109734437 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000427098 +1 known p.R95* 1.000 114 0% 40 45% - - - - - HMMSmart_SM00355 FAM206A 54942 genome.wustl.edu 37 9 111696786 111696786 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017832.3 +1 validated p.A7V 0.001 14 0% 16 50% - - benign(0) tolerated(0.1) neutral(0.286) NULL TMEM245 23731 genome.wustl.edu 37 9 111853259 111853259 + Missense_Mutation SNP C C T rs191792154 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032012.3 -1 validated p.V365I 0.000 164 0% 93 35.5% - - benign(0) tolerated(1) - NULL PTPN3 5774 genome.wustl.edu 37 9 112144049 112144049 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002829.3 -1 reviewed p.T849 0.097 145 0% 105 30.5% - - - - - HMMPfam_Y_phosphatase,HMMSmart_PTPc,PatternScan_TYR_PHOSPHATASE_1,superfamily_SSF52799 SVEP1 79987 genome.wustl.edu 37 9 113141793 113141793 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153366.3 -1 validated p.I3414 0.998 91 0% 37 37.8% - - - - - superfamily_Complement control module/SCR domain SVEP1 79987 genome.wustl.edu 37 9 113166767 113166767 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153366.3 -1 validated p.W3169L 1.000 159 0% 58 25.9% - - probably_damaging(0.99) tolerated(0.2) deleterious(0.490) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain MUSK 4593 genome.wustl.edu 37 9 113510077 113510077 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005592.3 +1 reviewed p.A304T 1.000 72 0% 22 50% - - benign(0.321) deleterious(0.04) neutral(0.450) superfamily_Immunoglobulin MUSK 4593 genome.wustl.edu 37 9 113563105 113563105 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005592.3 +1 reviewed p.R816Q 1.000 56 0% 25 32% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) HSDL2 84263 genome.wustl.edu 37 9 115171288 115171288 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032303.3 +1 provisional p.G128C 1.000 120 0% 40 50% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_adh_short,superfamily_NAD(P)-binding Rossmann-fold domains KIAA1958 158405 genome.wustl.edu 37 9 115422225 115422225 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_133465.2 +1 predicted p.R676H 0.780 73 0% 98 33.7% - - benign(0.295) tolerated(0.19) neutral(0.141) NULL SLC46A2 57864 genome.wustl.edu 37 9 115648856 115648856 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033051.3 -1 validated p.T418 0.001 94 0% 96 45.8% - - - - - HMMPfam_MFS_1,superfamily_MFS general substrate transporter ZFP37 7539 genome.wustl.edu 37 9 115805456 115805456 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003408.1 -1 provisional p.R481I 0.998 196 0% 32 50% - - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF618 114991 genome.wustl.edu 37 9 116811336 116811336 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_133374.2 +1 validated p.G492D 0.995 18 0% 30 36.7% - - benign(0.154) tolerated(0.76) neutral(0.014) NULL ZNF618 114991 genome.wustl.edu 37 9 116811400 116811400 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_133374.2 +1 validated p.F513 0.905 21 0% 38 34.2% - - - - - NULL COL27A1 85301 genome.wustl.edu 37 9 116930723 116930723 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032888.2 +1 validated p.T296 0.000 32 0% 94 41.5% - - - - - NULL ORM1 5004 genome.wustl.edu 37 9 117086367 117086367 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000607.2 +1 reviewed p.Y109 0.000 114 0% 142 33.1% - - - - - HMMPfam_Lipocalin,superfamily_Calycin AKNA 80709 genome.wustl.edu 37 9 117121926 117121926 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030767.4 -1 validated p.L814I 0.000 68 0% 78 43.6% - - benign(0.001) tolerated(0.27) neutral(0.034) NULL TNC 3371 genome.wustl.edu 37 9 117808756 117808756 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002160.2 -1 validated p.Y1686 0.971 171 0% 57 31.6% - - - - - HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like TNC 3371 genome.wustl.edu 37 9 117844175 117844175 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002160.2 -1 validated p.S760 0.940 133 0% 110 36.4% - - - - - HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like PAPPA 5069 genome.wustl.edu 37 9 119109324 119109324 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002581.3 +1 reviewed p.V1267A 1.000 66 0% 40 42.5% - - benign(0.117) deleterious(0.02) neutral(0.393) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module,superfamily_SSF55486 PAPPA 5069 genome.wustl.edu 37 9 119115112 119115112 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002581.3 +1 reviewed p.E1364D 1.000 83 0% 32 28.1% - - benign(0.009) tolerated(0.64) neutral(0.004) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module,superfamily_SSF55486 ASTN2 23245 genome.wustl.edu 37 9 119187882 119187882 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198188.2 -1 reviewed p.V392G 1.000 50 0% 25 40% - - possibly_damaging(0.681) - - NULL TRIM32 22954 genome.wustl.edu 37 9 119460073 119460073 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001099679.1 +1 reviewed p.L18I 1.000 56 0% 31 32.3% - - probably_damaging(0.99) deleterious(0) deleterious(0.886) superfamily_SSF57850 ASTN2 23245 genome.wustl.edu 37 9 119568048 119568048 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198187.3 -1 reviewed p.L753 1.000 171 0% 46 10.9% - - - - - superfamily_EGF/Laminin DBC1 1620 genome.wustl.edu 37 9 121930340 121930340 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014618.2 -1 validated p.C436 0.017 39 0% 55 38.2% - - - - - NULL CDK5RAP2 55755 genome.wustl.edu 37 9 123177384 123177384 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018249.4 -1 reviewed p.E1411* 1.000 206 0% 131 20.6% - - - - - NULL CDK5RAP2 55755 genome.wustl.edu 37 9 123253682 123253682 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018249.4 -1 reviewed p.K462T 0.101 280 0% 176 13.6% - - benign(0.03) tolerated(0.05) neutral(0.347) NULL CDK5RAP2 55755 genome.wustl.edu 37 9 123291021 123291021 + Splice_Site SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018249.4 -1 reviewed e9+1 1.000 207 0% 68 42.6% - - - - - - FBXW2 26190 genome.wustl.edu 37 9 123526948 123526948 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012164.3 -1 reviewed p.G418 1.000 98 0% 66 39.4% - - - - - superfamily_WD40 repeat-like PSMD5 5711 genome.wustl.edu 37 9 123589149 123589149 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005047.2 -1 reviewed p.Y236 0.261 99 0% 38 34.2% - - - - - superfamily_ARM-type_fold,HMMPfam_Proteasom_PSMB TRAF1 7185 genome.wustl.edu 37 9 123667354 123667354 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005658.3 -1 reviewed p.A399T 0.989 68 0% 95 37.9% - - benign(0.099) tolerated(0.57) neutral(0.013) HMMPfam_MATH,superfamily_TRAF domain-like CNTRL 11064 genome.wustl.edu 37 9 123936007 123936007 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007018.4 +1 reviewed p.R2247* 0.915 94 0% 29 44.8% - - - - - NULL CNTRL 11064 genome.wustl.edu 37 9 123937435 123937435 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007018.4 +1 reviewed p.A2296V 0.000 113 0.9% 42 33.3% - - benign(0.079) tolerated(0.07) neutral(0.325) NULL DAB2IP 153090 genome.wustl.edu 37 9 124534910 124534910 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032552.2 +1 validated p.P673 1.000 19 0% 48 37.5% - - - - - NULL DAB2IP 153090 genome.wustl.edu 37 9 124538622 124538622 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032552.2 +1 validated p.R1061Q 1.000 23 0% 66 18.2% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL NDUFA8 4702 genome.wustl.edu 37 9 124910470 124910470 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014222.2 -1 reviewed p.R101H 1.000 88 0% 52 42.3% - - probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_CHCH LHX6 26468 genome.wustl.edu 37 9 124988738 124988738 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014368.3 -1 reviewed p.C126 1.000 20 0% 16 43.8% - - - - - HMMPfam_LIM,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,superfamily_SSF57716 PTGS1 5742 genome.wustl.edu 37 9 125141101 125141101 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000962.2 +1 reviewed p.D134Y 1.000 217 0% 221 34.4% - - probably_damaging(0.953) deleterious(0.04) deleterious(0.746) superfamily_Heme-dependent peroxidases PTGS1 5742 genome.wustl.edu 37 9 125145803 125145803 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000962.2 +1 reviewed p.M260L 0.342 28 0% 25 36% - - benign(0.01) tolerated(0.25) neutral(0.037) HMMPfam_An_peroxidase,superfamily_Heme-dependent peroxidases OR1L8 138881 genome.wustl.edu 37 9 125330207 125330207 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001004454.1 -1 provisional p.P184S 0.000 129 0% 73 28.8% - - probably_damaging(0.998) tolerated(0.07) deleterious(0.793) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR1L8 138881 genome.wustl.edu 37 9 125330561 125330561 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001004454.1 -1 provisional p.F66V 0.011 168 0% 57 42.1% - - benign(0) deleterious(0.01) neutral(0.406) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR1L1 26737 genome.wustl.edu 37 9 125424450 125424450 + Silent SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005236.3 +1 validated p.P202 0.000 305 0% 150 28% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR1L3 26735 genome.wustl.edu 37 9 125438072 125438072 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005234.1 +1 provisional p.L222F 0.000 196 0% 65 32.3% - - benign(0.034) tolerated(0.5) neutral(0.012) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR1L4 254973 genome.wustl.edu 37 9 125486652 125486652 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005235.1 +1 provisional p.C128* 1.000 166 0% 68 30.9% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR5C1 392391 genome.wustl.edu 37 9 125551760 125551760 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001001923.1 +1 provisional p.C183 0.051 80 0% 78 33.3% - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR5C1 392391 genome.wustl.edu 37 9 125551873 125551873 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001001923.1 +1 provisional p.S221Y 1.000 83 0% 48 50% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like RC3H2 54542 genome.wustl.edu 37 9 125611951 125611951 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001100588.1 -1 validated p.N1177 0.868 121 0% 167 38.3% - - - - - NULL RC3H2 54542 genome.wustl.edu 37 9 125612056 125612056 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001100588.1 -1 validated p.Q1142 1.000 103 0% 180 20.6% - - - - - NULL RC3H2 54542 genome.wustl.edu 37 9 125613503 125613503 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000454740 -1 known p.S138Y 0.995 150 0% 271 14% - - - - - NULL RC3H2 54542 genome.wustl.edu 37 9 125621359 125621359 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001100588.1 -1 validated p.T624 1.000 69 0% 69 27.5% - - - - - NULL ZBTB26 57684 genome.wustl.edu 37 9 125681608 125681608 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020924.2 -1 provisional p.Q202H 1.000 197 0% 136 45.6% - - benign(0.001) tolerated(0.39) neutral(0.016) NULL RABGAP1 23637 genome.wustl.edu 37 9 125752436 125752436 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012197.3 +1 validated p.I289 1.000 109 0% 51 37.3% - - - - - NULL STRBP 55342 genome.wustl.edu 37 9 125941475 125941475 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018387.4 -1 validated p.R12H 1.000 169 0% 48 41.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CRB2 286204 genome.wustl.edu 37 9 126133830 126133830 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173689.5 +1 validated p.A803 0.041 14 0% 26 34.6% - - - - - superfamily_Concanavalin A-like lectins/glucanases NEK6 10783 genome.wustl.edu 37 9 127055283 127055283 + Missense_Mutation SNP A A T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001145001.2 +1 reviewed p.R22W 0.000 49 0% 84 31% - - unknown(0) deleterious(0.03) - NULL WDR38 401551 genome.wustl.edu 37 9 127616516 127616516 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001045476.1 +1 provisional p.Q34H 0.494 102 0% 212 33.5% - - benign(0.001) deleterious(0.03) neutral(0.364) HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 WDR38 401551 genome.wustl.edu 37 9 127616547 127616547 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001045476.1 +1 provisional p.V45M 0.285 78 0% 181 32.6% - - possibly_damaging(0.849) deleterious(0.02) deleterious(0.709) HMMSmart_WD40,superfamily_WD40_like,PatternScan_WD_REPEATS_1,HMMPfam_WD40 GOLGA1 2800 genome.wustl.edu 37 9 127644154 127644154 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002077.3 -1 reviewed p.T682M 0.989 183 0% 187 40.1% - - benign(0.062) tolerated(0.08) neutral(0.304) NULL GAPVD1 26130 genome.wustl.edu 37 9 128064656 128064656 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015635.2 +1 validated p.L194I 1.000 167 0% 88 46.6% - - benign(0.091) tolerated(0.19) neutral(0.056) HMMPfam_RasGAP,superfamily_Rho_GAP GAPVD1 26130 genome.wustl.edu 37 9 128117027 128117027 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015635.2 +1 validated p.R1249W 1.000 136 0% 54 40.7% - - probably_damaging(0.974) deleterious(0.02) deleterious(0.799) superfamily_SSF109993 MAPKAP1 79109 genome.wustl.edu 37 9 128434764 128434764 + Silent SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001006617.1 -1 reviewed p.V30 0.999 115 0% 53 32.1% - - - - - HMMPfam_SIN1 FAM125B 89853 genome.wustl.edu 37 9 129246302 129246302 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033446.1 +1 validated p.I288 0.997 74 0% 109 34.9% - - - - - HMMPfam_DUF2464 ZBTB34 403341 genome.wustl.edu 37 9 129642107 129642107 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001099270.1 +1 validated p.V139 0.000 34 0% 46 34.8% - - - - - NULL FAM129B 64855 genome.wustl.edu 37 9 130293985 130293985 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022833.2 -1 validated p.S43N 1.000 36 0% 61 39.3% - - possibly_damaging(0.749) tolerated(1) neutral(0.275) NULL C9orf117 286207 genome.wustl.edu 37 9 130472932 130472932 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001012502.2 +1 predicted p.T162 0.065 115 0% 201 33.8% - - - - - NULL TTC16 158248 genome.wustl.edu 37 9 130493230 130493230 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144965.1 +1 provisional p.T723I 0.000 56 0% 146 32.9% - - benign(0.075) deleterious(0.01) neutral(0.411) NULL FPGS 2356 genome.wustl.edu 37 9 130575610 130575610 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004957.4 +1 reviewed p.S497 0.000 22 0% 49 30.6% - - - - - NULL ST6GALNAC6 30815 genome.wustl.edu 37 9 130648957 130648957 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013443.3 -1 provisional p.R308H 1.000 262 0% 335 35.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_transf_29 ST6GALNAC4 27090 genome.wustl.edu 37 9 130674658 130674658 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_175039.3 -1 reviewed p.R167H 0.990 18 0% 47 31.9% - - probably_damaging(0.993) tolerated(0.14) deleterious(0.700) HMMPfam_Glyco_transf_29 ST6GALNAC4 27090 genome.wustl.edu 37 9 130674945 130674945 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_175039.3 -1 reviewed p.E71D 0.000 9 0.000 18 0.389 - - benign(0.146) tolerated(0.62) neutral(0.017) HMMPfam_Glyco_transf_29 SLC25A25 114789 genome.wustl.edu 37 9 130860974 130860974 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_052901.2 +1 validated p.Q43H 1.000 70 0% 106 39.6% - - possibly_damaging(0.476) tolerated(0.32) neutral(0.181) superfamily_EF-hand SLC25A25 114789 genome.wustl.edu 37 9 130864661 130864661 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001006641.1 +1 validated p.N163 0.774 53 0% 98 35.7% - - - - - HMMSmart_EFh,superfamily_SSF47473 SLC27A4 10999 genome.wustl.edu 37 9 131107689 131107689 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005094.3 +1 reviewed p.F139 0.591 22 0% 32 15.6% - - - - - HMMPfam_AMP-binding,PatternScan_LIPOCALIN,superfamily_Acetyl-CoA synthetase-like CERCAM 51148 genome.wustl.edu 37 9 131185155 131185155 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016174.4 +1 validated p.T69M 1.000 94 0% 184 38% - - probably_damaging(0.986) deleterious(0) deleterious(0.879) NULL CERCAM 51148 genome.wustl.edu 37 9 131190611 131190611 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016174.4 +1 validated p.R266H 0.975 65 0% 113 35.4% - - benign(0.026) tolerated(0.63) neutral(0.005) NULL ODF2 4957 genome.wustl.edu 37 9 131233638 131233638 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002540.3 +1 reviewed p.R134W 1.000 103 0% 90 30% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ODF2 4957 genome.wustl.edu 37 9 131262456 131262456 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002540.3 +1 reviewed p.Y780 0.931 119 0% 152 40.1% - - - - - NULL SPTAN1 6709 genome.wustl.edu 37 9 131339176 131339176 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001130438.1 +1 validated p.G242 0.001 143 0% 76 35.5% - - - - - HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin SPTAN1 6709 genome.wustl.edu 37 9 131388736 131388736 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001130438.1 +1 validated p.E2116* 1.000 65 0% 83 36.1% - - - - - HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin SET 6418 genome.wustl.edu 37 9 131454161 131454161 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001122821.1 +1 validated p.E65D 1.000 34 0% 75 28% - - possibly_damaging(0.791) tolerated(0.11) deleterious(0.568) HMMPfam_NAP TBC1D13 54662 genome.wustl.edu 37 9 131566239 131566239 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018201.3 +1 validated p.H253 0.967 38 0% 74 16.2% - - - - - HMMPfam_TBC,HMMSmart_TBC,superfamily_RabGAP_TBC LRRC8A 56262 genome.wustl.edu 37 9 131670651 131670651 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001127244.1 +1 reviewed p.R403Q 1.000 44 0% 59 33.9% - - probably_damaging(0.994) deleterious(0.03) deleterious(0.817) NULL NUP188 23511 genome.wustl.edu 37 9 131747181 131747181 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015354.1 +1 validated p.A655V 1.000 238 0% 162 38.9% - - possibly_damaging(0.538) deleterious(0.04) deleterious(0.531) HMMPfam_Nup188 NUP188 23511 genome.wustl.edu 37 9 131750451 131750451 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015354.1 +1 validated p.A840V 1.000 156 0% 101 44.6% - - possibly_damaging(0.862) deleterious(0.01) deleterious(0.739) HMMPfam_Nup188 SH3GLB2 56904 genome.wustl.edu 37 9 131774537 131774537 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020145.2 -1 provisional p.I201S 1.000 48 2.1% 59 30.5% - - possibly_damaging(0.639) deleterious(0) deleterious(0.668) HMMPfam_BAR,HMMSmart_SM00721 CRAT 1384 genome.wustl.edu 37 9 131865330 131865330 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000755.3 -1 reviewed p.L142 0.986 121 0% 214 42.5% - - - - - HMMPfam_Carn_acyltransf,superfamily_CoA-dependent acyltransferases PPP2R4 5524 genome.wustl.edu 37 9 131893878 131893878 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178001.1 +1 reviewed p.K175N 1.000 94 0% 96 34.4% - - benign(0.006) tolerated(0.61) neutral(0.004) HMMPfam_PTPA PTGES 9536 genome.wustl.edu 37 9 132501984 132501984 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004878.4 -1 reviewed p.R122Q 0.313 41 0% 77 33.8% - - benign(0.033) tolerated(0.11) neutral(0.273) HMMPfam_MAPEG C9orf78 51759 genome.wustl.edu 37 9 132597419 132597419 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016520.2 -1 validated p.R28 1.000 43 0% 102 36.3% - - - - - NULL USP20 10868 genome.wustl.edu 37 9 132632094 132632094 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001008563.3 +1 validated p.W512* 1.000 15 0% 36 38.9% - - - - - HMMPfam_UCH,superfamily_SSF54001 USP20 10868 genome.wustl.edu 37 9 132636908 132636908 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001008563.3 +1 validated p.K598N 0.999 46 0% 81 46.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UCH,superfamily_SSF54001 USP20 10868 genome.wustl.edu 37 9 132641862 132641862 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001008563.3 +1 validated p.G841 0.998 20 0% 49 36.7% - - - - - HMMSmart_DUSP ENSG00000249728 0 genome.wustl.edu 37 9 133346414 133346414 + RNA SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000503205 -1 novel NULL 0.000 50 0% 85 45.9% - - - - - - ASS1 445 genome.wustl.edu 37 9 133370262 133370262 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000050.4 +1 reviewed p.H327Y 1.000 297 0% 335 38.2% - - benign(0) tolerated(0.22) neutral(0.042) HMMPfam_Arginosuc_synth,superfamily_Argininosuccinate synthetase C-terminal domain FUBP3 8939 genome.wustl.edu 37 9 133501796 133501796 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003934.1 +1 validated p.R341C 1.000 45 0% 52 34.6% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ABL1 25 genome.wustl.edu 37 9 133748350 133748350 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007313.2 +1 reviewed p.A356 0.144 46 0% 73 42.5% - - - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) ABL1 25 genome.wustl.edu 37 9 133750276 133750276 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007313.2 +1 reviewed p.C388 1.000 97 0% 118 32.2% - - - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_TYR,superfamily_Protein kinase-like (PK-like) ABL1 25 genome.wustl.edu 37 9 133760509 133760509 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007313.2 +1 reviewed p.D963 0.000 22 0% 29 24.1% - - - - - NULL LAMC3 10319 genome.wustl.edu 37 9 133948186 133948186 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006059.3 +1 reviewed p.E1127D 0.998 27 0% 48 12.5% - - benign(0.004) tolerated(0.38) neutral(0.018) NULL LAMC3 10319 genome.wustl.edu 37 9 133948215 133948215 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006059.3 +1 reviewed p.A1137V 0.000 23 0% 59 16.9% - - benign(0.012) tolerated(0.15) neutral(0.241) NULL FAM78A 286336 genome.wustl.edu 37 9 134151290 134151290 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033387.3 -1 validated p.A93T 1.000 24 0% 54 37% - - probably_damaging(0.958) deleterious(0) deleterious(0.846) NULL PPAPDC3 84814 genome.wustl.edu 37 9 134183412 134183412 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032728.3 +1 validated p.D185G 1.000 29 0% 43 44.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PAP2,HMMSmart_acidPPc,superfamily_AcPase_VanPerase PRRC2B 84726 genome.wustl.edu 37 9 134312052 134312052 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013318.3 +1 validated p.P113 1.000 38 0% 51 29.4% - - - - - HMMPfam_BAT2_N PRRC2B 84726 genome.wustl.edu 37 9 134351112 134351112 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013318.3 +1 validated p.R1199Q 1.000 16 0% 44 45.5% - - probably_damaging(0.994) tolerated(0.38) deleterious(0.470) NULL PRRC2B 84726 genome.wustl.edu 37 9 134351309 134351309 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013318.3 +1 validated p.A1265T 0.000 37 0% 85 36.5% - - benign(0) tolerated(1) - NULL UCK1 83549 genome.wustl.edu 37 9 134404932 134404932 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031432.2 -1 validated p.N103S 0.996 218 0% 349 35.8% - - benign(0.003) tolerated(0.27) neutral(0.034) HMMPfam_PRK,superfamily_SSF52540 RAPGEF1 2889 genome.wustl.edu 37 9 134497312 134497312 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000419442 -1 known p.T34M 0.991 103 0% 114 31.6% - - - - - NULL RAPGEF1 2889 genome.wustl.edu 37 9 134514179 134514179 + Splice_Site SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198679.1 -1 reviewed e5-1 1.000 151 0% 95 37.9% - - - - - - MED27 9442 genome.wustl.edu 37 9 134769340 134769340 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004269.2 -1 reviewed p.R205W 1.000 103 0% 62 41.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL MED27 9442 genome.wustl.edu 37 9 134952832 134952832 + Missense_Mutation SNP G G C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004269.2 -1 reviewed p.N115K 1.000 212 0% 129 35.7% - - possibly_damaging(0.497) deleterious(0.01) deleterious(0.572) NULL SETX 23064 genome.wustl.edu 37 9 135139943 135139943 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015046.5 -1 reviewed p.G2573C 0.003 72 0% 60 43.3% - - benign(0.385) deleterious(0) deleterious(0.568) NULL TTF1 7270 genome.wustl.edu 37 9 135271873 135271873 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007344.2 -1 validated p.K601N 0.042 219 0% 165 35.8% - - probably_damaging(0.959) tolerated(0.14) deleterious(0.652) NULL DDX31 64794 genome.wustl.edu 37 9 135521417 135521417 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022779.7 -1 reviewed p.C520 0.997 45 0% 33 33.3% - - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases GTF3C5 9328 genome.wustl.edu 37 9 135917498 135917498 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001122823.1 +1 validated p.L60 0.998 42 0% 56 33.9% - - - - - HMMPfam_Tau95 GTF3C5 9328 genome.wustl.edu 37 9 135919195 135919195 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001122823.1 +1 validated p.L152I 1.000 40 0% 62 37.1% - - benign(0.149) tolerated(0.35) neutral(0.034) HMMPfam_Tau95 MED22 6837 genome.wustl.edu 37 9 136213479 136213479 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_133640.3 -1 reviewed p.T13 0.179 122 0% 241 40.2% - - - - - HMMPfam_SURF5 ADAMTS13 11093 genome.wustl.edu 37 9 136291166 136291166 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_139025.3 +1 reviewed p.V175I 1.000 56 0% 124 33.9% - - benign(0.204) tolerated(0.69) neutral(0.021) "superfamily_Metalloproteases (""zincins"") catalytic domain" ADAMTS13 11093 genome.wustl.edu 37 9 136295154 136295154 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_139025.3 +1 reviewed p.A307V 0.251 5 0.000 10 0.500 - - benign(0.216) tolerated(0.24) neutral(0.058) HMMSmart_SM00608 ADAMTS13 11093 genome.wustl.edu 37 9 136303392 136303392 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_139025.3 +1 reviewed p.D537 1.000 131 0% 224 35.3% - - - - - NULL SARDH 1757 genome.wustl.edu 37 9 136536807 136536807 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001134707.1 -1 reviewed p.R726W 0.998 10 0% 27 44.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GCV_T,superfamily_SSF103025 SARDH 1757 genome.wustl.edu 37 9 136582455 136582455 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001134707.1 -1 reviewed p.C381 0.993 51 0% 95 35.8% - - - - - HMMPfam_DAO,superfamily_SSF51905,superfamily_SSF54373 BRD3 8019 genome.wustl.edu 37 9 136907017 136907017 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007371.3 -1 reviewed p.A424 0.002 14 0% 44 29.5% - - - - - superfamily_Bromodomain BRD3 8019 genome.wustl.edu 37 9 136913310 136913310 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007371.3 -1 reviewed p.H327 0.996 35 0% 77 35.1% - - - - - HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain COL5A1 1289 genome.wustl.edu 37 9 137690276 137690276 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000093.3 +1 reviewed p.L974P 1.000 105 0% 159 36.5% - - unknown(0) tolerated(0.12) - HMMPfam_Collagen FCN1 2219 genome.wustl.edu 37 9 137801885 137801885 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002003.3 -1 reviewed p.S247F 0.975 155 0% 130 36.9% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Fibrinogen_C,HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like PPP1R26 9858 genome.wustl.edu 37 9 138376538 138376538 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014811.3 +1 validated p.R61Q 0.015 10 0% 40 37.5% - - benign(0.002) tolerated(0.12) neutral(0.261) NULL SOHLH1 402381 genome.wustl.edu 37 9 138585661 138585661 + Splice_Site SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001101677.1 -1 validated e8-1 1.000 13 0% 21 52.4% - - - - - - KCNT1 57582 genome.wustl.edu 37 9 138651627 138651627 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020822.2 +1 validated p.D319 0.992 50 0% 109 33% - - - - - HMMPfam_Ion_trans_2,superfamily_SSF81324 KCNT1 57582 genome.wustl.edu 37 9 138656989 138656989 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020822.2 +1 validated p.I383T 1.000 68 0% 174 37.4% - - benign(0.007) tolerated(0.29) neutral(0.029) superfamily_SSF81324 KCNT1 57582 genome.wustl.edu 37 9 138657502 138657502 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020822.2 +1 validated p.E411D 1.000 18 0% 32 25% - - benign(0.338) tolerated(0.07) neutral(0.425) NULL KCNT1 57582 genome.wustl.edu 37 9 138662745 138662745 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020822.2 +1 validated p.K604 1.000 34 0% 84 40.5% - - - - - superfamily_NAD(P)-bd CAMSAP1 157922 genome.wustl.edu 37 9 138714256 138714256 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015447.3 -1 validated p.D751N 0.007 49 0% 75 40% - - possibly_damaging(0.825) tolerated(0.12) deleterious(0.573) NULL UBAC1 10422 genome.wustl.edu 37 9 138825253 138825253 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016172.2 -1 validated p.R404H 1.000 78 0% 166 30.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL QSOX2 169714 genome.wustl.edu 37 9 139103123 139103123 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000455222 -1 known p.R280W 1.000 81 0% 150 40% - - - - - HMMPfam_Evr1_Alr,superfamily_FAD-dependent thiol oxidase SDCCAG3 10807 genome.wustl.edu 37 9 139299112 139299112 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001039707.1 -1 validated p.K347E 0.989 219 0% 399 36.3% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL SEC16A 9919 genome.wustl.edu 37 9 139354291 139354291 + Silent SNP C C T rs180816729 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014866.1 -1 validated p.P1703 0.008 79 0% 135 38.5% - - - - - NULL SEC16A 9919 genome.wustl.edu 37 9 139368568 139368568 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014866.1 -1 validated p.D1167G 0.802 80 0% 96 31.2% - - probably_damaging(0.965) deleterious(0) deleterious(0.851) NULL NOTCH1 4851 genome.wustl.edu 37 9 139396866 139396866 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017617.3 -1 reviewed p.F1748L 0.947 8 0.000 12 0.333 - - benign(0.03) tolerated(0.72) neutral(0.003) NULL AGPAT2 10555 genome.wustl.edu 37 9 139569207 139569207 + Missense_Mutation SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006412.3 -1 reviewed p.K214M 0.000 90 0% 145 35.2% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_Glycerol-3-phosphate (1)-acyltransferase LCN6 158062 genome.wustl.edu 37 9 139642882 139642882 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198946.2 -1 validated p.A18 0.014 24 0% 59 23.7% - - - - - NULL LCN8 138307 genome.wustl.edu 37 9 139651525 139651525 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178469.3 -1 provisional p.S40 0.000 28 0% 59 32.2% - - - - - HMMPfam_Lipocalin,superfamily_Calycin LCN15 389812 genome.wustl.edu 37 9 139658233 139658233 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_203347.1 -1 provisional p.A80V 0.019 32 0% 87 42.5% - - benign(0.146) tolerated(0.26) neutral(0.046) HMMPfam_Lipocalin,superfamily_Calycin LOC100131193 100131193 genome.wustl.edu 37 9 139699530 139699530 + RNA SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NR_024580.1 -1 predicted NULL 0.000 11 0% 18 27.8% - - - - - - KIAA1984 84960 genome.wustl.edu 37 9 139700971 139700971 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001039374.4 +1 validated p.E375 0.759 21 0% 42 38.1% - - - - - NULL FBXW5 54461 genome.wustl.edu 37 9 139835484 139835484 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018998.2 -1 reviewed p.A533T 0.985 30 0% 70 40% - - benign(0) tolerated(0.3) neutral(0.029) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 FBXW5 54461 genome.wustl.edu 37 9 139836761 139836761 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018998.2 -1 reviewed p.R278H 0.060 23 0% 46 47.8% - - possibly_damaging(0.937) tolerated(0.13) deleterious(0.635) superfamily_WD40 repeat-like C9orf142 286257 genome.wustl.edu 37 9 139888246 139888246 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_183241.1 +1 predicted p.D202N 0.819 101 0% 234 36.3% - - benign(0.254) deleterious(0.01) neutral(0.432) NULL ABCA2 20 genome.wustl.edu 37 9 139905188 139905188 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_212533.2 -1 reviewed p.R2050C 0.998 16 0% 26 30.8% - - benign(0.016) tolerated(0.17) neutral(0.059) NULL ABCA2 20 genome.wustl.edu 37 9 139908286 139908286 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_212533.2 -1 reviewed p.I1512T 0.998 31 0% 61 49.2% - - probably_damaging(0.991) tolerated(0.12) deleterious(0.705) NULL ABCA2 20 genome.wustl.edu 37 9 139911723 139911723 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000479446 -1 known p.T176M 0.417 20 0% 43 32.6% - - - - - NULL NPDC1 56654 genome.wustl.edu 37 9 139934274 139934274 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015392.3 -1 validated p.A310T 0.346 31 0% 63 34.9% - - unknown(0) tolerated(1) - HMMPfam_NPDC1 MAN1B1 11253 genome.wustl.edu 37 9 139996044 139996044 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016219.3 +1 validated p.D392N 1.000 46 0% 67 38.8% - - possibly_damaging(0.884) tolerated(0.12) deleterious(0.605) HMMPfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 NDOR1 27158 genome.wustl.edu 37 9 140110210 140110210 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001144026.1 +1 reviewed p.A463V 1.000 17 0% 70 40% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_NAD_binding_1,superfamily_SSF52343 NOXA1 10811 genome.wustl.edu 37 9 140327956 140327956 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006647.1 +1 provisional p.A321T 0.054 5 0.000 28 0.429 - - benign(0) tolerated(0.31) neutral(0.027) HMMPfam_PB1,HMMSmart_PB1,superfamily_SSF54277 ENTPD8 377841 genome.wustl.edu 37 9 140329457 140329457 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001033113.1 -1 validated p.G466D 0.000 50 0% 124 29% - - benign(0.27) tolerated(0.34) neutral(0.052) NULL ENTPD8 377841 genome.wustl.edu 37 9 140330529 140330529 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001033113.1 -1 validated p.C329Y 0.994 14 0% 53 54.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GDA1_CD39 NELF 26012 genome.wustl.edu 37 9 140348849 140348849 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001130969.1 -1 reviewed p.A276T 1.000 16 0% 51 15.7% - - possibly_damaging(0.824) deleterious(0.03) deleterious(0.676) NULL ARRDC1 92714 genome.wustl.edu 37 9 140508171 140508171 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152285.2 +1 validated p.V129M 0.075 111 0% 235 44.3% - - possibly_damaging(0.553) tolerated(0.12) neutral(0.449) HMMPfam_Arrestin_N,superfamily_Ig_E-set ARRDC1 92714 genome.wustl.edu 37 9 140509146 140509146 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152285.2 +1 validated p.A311T 0.259 18 0% 29 17.2% - - probably_damaging(1) tolerated(0.15) deleterious(0.741) superfamily_Ig_E-set EHMT1 79813 genome.wustl.edu 37 9 140638477 140638477 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000460843 +1 known p.A369T 0.012 47 0% 69 50.7% - - benign(0.132) deleterious(0.02) neutral(0.394) NULL EHMT1 79813 genome.wustl.edu 37 9 140652339 140652339 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000460843 +1 known p.E459D 0.023 134 0% 256 35.5% - - probably_damaging(0.994) tolerated(0.06) deleterious(0.774) NULL EHMT1 79813 genome.wustl.edu 37 9 140672502 140672502 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024757.4 +1 reviewed p.R723Q 0.154 33 0% 67 28.4% - - - - - NULL CACNA1B 774 genome.wustl.edu 37 9 140878685 140878685 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000718.2 +1 validated p.R584S 0.999 54 0% 56 26.8% - - probably_damaging(0.976) deleterious(0) deleterious(0.863) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CACNA1B 774 genome.wustl.edu 37 9 140881243 140881243 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000718.2 +1 validated p.F637 0.971 136 0% 129 34.1% - - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CACNA1B 774 genome.wustl.edu 37 9 141015156 141015156 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000718.2 +1 validated p.R2104 0.995 5 0.000 18 0.611 - - - - - NULL CACNA1B 774 genome.wustl.edu 37 9 141016189 141016189 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000718.2 +1 validated p.R2253Q 1.000 17 0% 60 50% - - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL DIP2C 22982 genome.wustl.edu 37 10 355976 355976 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014974.2 -1 reviewed p.H1327 0.617 118 0% 187 33.2% - - - - - HMMPfam_AMP-binding,superfamily_SSF56801 DIP2C 22982 genome.wustl.edu 37 10 390841 390841 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014974.2 -1 reviewed p.R1121W 1.000 123 0% 198 30.3% - - possibly_damaging(0.91) deleterious(0.05) deleterious(0.708) HMMPfam_AMP-binding,superfamily_SSF56801 DIP2C 22982 genome.wustl.edu 37 10 436213 436213 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014974.2 -1 reviewed p.A495 0.036 105 0% 150 37.3% - - - - - HMMPfam_AMP-binding,superfamily_SSF56801 LARP4B 23185 genome.wustl.edu 37 10 859132 859132 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015155.1 -1 provisional p.A651T 1.000 114 0% 206 43.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL LARP4B 23185 genome.wustl.edu 37 10 860670 860670 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000448368 -1 known p.V213M 0.000 39 0% 50 34% - - - - - NULL ADARB2 105 genome.wustl.edu 37 10 1405809 1405809 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018702.2 -1 reviewed p.G164E 1.000 9 0.000 21 0.333 - - probably_damaging(0.999) tolerated(0.09) deleterious(0.787) HMMPfam_dsrm,HMMSmart_DSRM,superfamily_SSF54768 PFKP 5214 genome.wustl.edu 37 10 3175485 3175485 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000433193 +1 known p.T20M 0.996 78 0% 108 46.3% - - - - - HMMPfam_PFK,superfamily_Phosphofructokinase,PatternScan_PHOSPHOFRUCTOKINASE PFKP 5214 genome.wustl.edu 37 10 3178680 3178680 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002627.3 +1 validated p.R755Q 1.000 33 0% 52 34.6% - - probably_damaging(1) tolerated(0.08) deleterious(0.800) superfamily_Phosphofructokinase PITRM1 10531 genome.wustl.edu 37 10 3201139 3201139 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014889.2 -1 validated p.S368Y 1.000 130 0% 114 31.6% - - possibly_damaging(0.921) deleterious(0) deleterious(0.816) HMMPfam_Peptidase_M16_C,superfamily_LuxS/MPP-like metallohydrolase KLF6 1316 genome.wustl.edu 37 10 3823800 3823800 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000469435 -1 known p.A237T 0.000 7 0.000 30 0.367 - - possibly_damaging(0.93) deleterious(0) deleterious(0.821) NULL TUBAL3 79861 genome.wustl.edu 37 10 5442840 5442840 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024803.2 -1 validated p.A72S 0.999 125 0% 64 43.8% - - benign(0.002) tolerated(0.06) neutral(0.323) HMMPfam_Tubulin,superfamily_Tubulin nucleotide-binding domain-like NET1 10276 genome.wustl.edu 37 10 5496964 5496964 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001047160.1 +1 validated p.S360 0.390 58 0% 31 38.7% - - - - - superfamily_DBL homology domain (DH-domain) IL15RA 3601 genome.wustl.edu 37 10 6008166 6008166 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000429135 -1 known p.A69V 0.014 68 0% 70 15.7% - - - - - HMMSmart_SM00032,superfamily_Complement control module/SCR domain RBM17 84991 genome.wustl.edu 37 10 6143329 6143329 + Silent SNP G G A rs145617186 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001145547.1 +1 reviewed p.P73 0.004 51 0% 31 35.5% - - - - - NULL SFMBT2 57713 genome.wustl.edu 37 10 7214023 7214023 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001029880.1 -1 provisional p.A750V 0.284 13 0% 41 39% - - benign(0.002) tolerated(0.37) neutral(0.019) NULL SFMBT2 57713 genome.wustl.edu 37 10 7214537 7214537 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001029880.1 -1 provisional p.R691W 0.997 60 0% 112 30.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SFMBT2 57713 genome.wustl.edu 37 10 7318935 7318935 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001029880.1 -1 provisional p.K263N 1.000 120 0% 103 39.8% - - probably_damaging(0.995) tolerated(0.08) deleterious(0.758) superfamily_Tudor/PWWP/MBT ITIH2 3698 genome.wustl.edu 37 10 7763721 7763721 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002216.2 +1 validated p.E283A 0.995 122 0% 116 31.9% - - benign(0.003) tolerated(0.69) neutral(0.002) NULL ITIH2 3698 genome.wustl.edu 37 10 7774324 7774324 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002216.2 +1 validated p.E557D 0.985 64 0% 69 33.3% - - benign(0.005) tolerated(0.4) neutral(0.016) NULL GATA3 2625 genome.wustl.edu 37 10 8100287 8100287 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001002295.1 +1 reviewed p.P87 0.104 27 0% 53 43.4% - - - - - NULL DHTKD1 55526 genome.wustl.edu 37 10 12149964 12149964 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018706.5 +1 validated p.D702N 1.000 72 0% 84 27.4% - - probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_Transket_pyr,superfamily_Thiamin diphosphate-binding fold (THDP-binding) MCM10 55388 genome.wustl.edu 37 10 13222497 13222497 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182751.2 +1 validated p.I275V 1.000 222 0.5% 108 38% - - benign(0.018) tolerated(0.98) neutral(0.001) NULL UCMA 221044 genome.wustl.edu 37 10 13271668 13271668 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_145314.1 -1 provisional p.E88* 0.991 279 0% 227 38.3% - - - - - NULL PHYH 5264 genome.wustl.edu 37 10 13330479 13330479 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006214.3 -1 reviewed p.D187N 0.007 38 0% 48 35.4% - - benign(0.002) tolerated(0.66) neutral(0.003) HMMPfam_PhyH SEPHS1 22929 genome.wustl.edu 37 10 13378251 13378251 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012247.3 -1 reviewed p.T133A 1.000 79 0% 60 13.3% - - benign(0.002) tolerated(0.08) neutral(0.300) HMMPfam_AIRS,superfamily_PurM N-terminal domain-like SEPHS1 22929 genome.wustl.edu 37 10 13380772 13380772 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012247.3 -1 reviewed p.H77R 1.000 115 0% 108 32.4% - - benign(0.408) deleterious(0.02) deleterious(0.515) HMMPfam_AIRS,superfamily_PurM N-terminal domain-like BEND7 222389 genome.wustl.edu 37 10 13541825 13541825 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152751.2 -1 validated p.R82H 1.000 133 0% 126 32.5% - - probably_damaging(0.997) tolerated(0.05) deleterious(0.811) NULL FRMD4A 55691 genome.wustl.edu 37 10 13701479 13701479 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018027.3 -1 validated p.R637H 1.000 18 0% 60 51.7% - - probably_damaging(0.996) deleterious(0.04) deleterious(0.810) NULL FRMD4A 55691 genome.wustl.edu 37 10 13708237 13708237 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018027.3 -1 validated p.V488A 1.000 102 1% 213 33.3% - - benign(0.102) deleterious(0.04) neutral(0.357) NULL FRMD4A 55691 genome.wustl.edu 37 10 13716954 13716954 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018027.3 -1 validated p.R403H 1.000 118 0% 77 46.8% - - possibly_damaging(0.859) deleterious(0.04) deleterious(0.681) NULL FRMD4A 55691 genome.wustl.edu 37 10 13852840 13852840 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018027.3 -1 validated p.Y60* 1.000 81 0% 54 37% - - - - - HMMPfam_FERM_N,HMMSmart_B41,superfamily_SSF54236 FAM107B 83641 genome.wustl.edu 37 10 14816465 14816465 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031453.2 -1 predicted p.H66 0.010 100 0% 74 29.7% - - - - - NULL SUV39H2 79723 genome.wustl.edu 37 10 14939434 14939434 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024670.3 +1 provisional p.R196Q 1.000 94 0% 56 37.5% - - probably_damaging(0.992) deleterious(0.01) deleterious(0.853) HMMPfam_SET,HMMSmart_SET,superfamily_SSF82199 DCLRE1C 64421 genome.wustl.edu 37 10 14961799 14961799 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001033855.1 -1 reviewed p.T365M 0.000 200 0% 107 35.5% - - benign(0.007) tolerated(0.37) neutral(0.019) NULL MEIG1 644890 genome.wustl.edu 37 10 15008518 15008518 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080836.2 +1 validated p.W17* 1.000 120 0% 86 34.9% - - - - - NULL NMT2 9397 genome.wustl.edu 37 10 15172258 15172258 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004808.2 -1 reviewed p.S258L 1.000 65 0% 23 52.2% - - benign(0.412) deleterious(0.03) deleterious(0.497) HMMPfam_NMT,superfamily_Acyl-CoA N-acyltransferases (Nat) ITGA8 8516 genome.wustl.edu 37 10 15686175 15686175 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003638.1 -1 provisional p.K418R 0.975 89 0% 57 43.9% - - benign(0.001) tolerated(0.61) neutral(0.004) HMMPfam_FG-GAP,HMMSmart_Int_alpha,superfamily_SSF69318 PLXDC2 84898 genome.wustl.edu 37 10 20453447 20453447 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032812.7 +1 provisional p.V278 0.995 117 0% 38 50% - - - - - NULL NEBL 10529 genome.wustl.edu 37 10 21076237 21076237 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006393.2 -1 reviewed p.A921V 1.000 125 0% 42 16.7% - - benign(0.056) tolerated(1) neutral(0.004) NULL NEBL 10529 genome.wustl.edu 37 10 21097515 21097515 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006393.2 -1 reviewed p.D895 0.994 63 0% 16 37.5% - - - - - NULL C10orf140 387640 genome.wustl.edu 37 10 21804314 21804314 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_207371.3 -1 validated p.T813N 0.958 173 0% 366 36.1% - - possibly_damaging(0.84) tolerated(0.26) neutral(0.356) NULL C10orf140 387640 genome.wustl.edu 37 10 21805083 21805083 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_207371.3 -1 validated p.H557Y 1.000 48 0% 107 40.2% - - possibly_damaging(0.905) deleterious(0.03) deleterious(0.724) NULL ENSG00000246935 0 genome.wustl.edu 37 10 21806809 21806809 + RNA SNP C C G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000442443 +1 novel NULL 1.000 11 0% 16 43.8% - - - - - - ARMC3 219681 genome.wustl.edu 37 10 23295822 23295822 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173081.3 +1 validated p.G581S 1.000 99 0% 47 38.3% - - possibly_damaging(0.833) tolerated(0.23) neutral(0.359) NULL ARMC3 219681 genome.wustl.edu 37 10 23297838 23297838 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173081.3 +1 validated p.A675T 0.001 84 0% 42 40.5% - - benign(0) tolerated(0.56) neutral(0.006) NULL ARMC3 219681 genome.wustl.edu 37 10 23319648 23319648 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173081.3 +1 validated p.F723L 0.683 250 0% 63 42.9% - - benign(0.001) tolerated(1) - NULL KIAA1217 56243 genome.wustl.edu 37 10 24832886 24832886 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_019590.3 +1 validated p.D1563N 0.940 78 0% 71 11.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ARHGAP21 57584 genome.wustl.edu 37 10 24889679 24889679 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020824.3 -1 validated p.R1010* 0.946 225 0% 127 40.2% - - - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like ENKUR 219670 genome.wustl.edu 37 10 25279473 25279473 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_145010.2 -1 provisional p.D171 0.809 331 0% 164 42.7% - - - - - NULL THNSL1 79896 genome.wustl.edu 37 10 25312736 25312736 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024838.4 +1 validated p.K195R 1.000 150 0% 86 31.4% - - benign(0.01) tolerated(0.22) neutral(0.043) HMMPfam_SKI,superfamily_P-loop containing nucleoside triphosphate hydrolases GPR158 57512 genome.wustl.edu 37 10 25464537 25464537 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020752.2 +1 validated p.R63H 1.000 8 0.000 16 0.250 - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL GPR158 57512 genome.wustl.edu 37 10 25883317 25883317 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020752.2 +1 validated p.L663F 1.000 223 0% 85 34.1% - - benign(0.11) tolerated(1) neutral(0.009) HMMPfam_7tm_3 GPR158 57512 genome.wustl.edu 37 10 25887619 25887619 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020752.2 +1 validated p.E1022K 1.000 55 0% 16 50% - - benign(0.212) deleterious(0.01) neutral(0.426) NULL MYO3A 53904 genome.wustl.edu 37 10 26241069 26241069 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017433.4 +1 reviewed p.I10 0.927 79 0% 17 29.4% - - - - - superfamily_Kinase_like MYO3A 53904 genome.wustl.edu 37 10 26286127 26286127 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017433.4 +1 reviewed p.D150N 1.000 107 0% 30 36.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase MYO3A 53904 genome.wustl.edu 37 10 26465648 26465648 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017433.4 +1 reviewed p.E1438* 1.000 73 0% 34 44.1% - - - - - NULL GAD2 2572 genome.wustl.edu 37 10 26507972 26507972 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000818.2 +1 reviewed p.D96G 1.000 113 0% 153 30.1% - - benign(0.093) deleterious(0.01) neutral(0.413) NULL ANKRD26 22852 genome.wustl.edu 37 10 27324195 27324195 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014915.2 -1 validated p.L1062I 0.921 123 0% 61 23% - - possibly_damaging(0.897) deleterious(0.02) deleterious(0.737) NULL ANKRD26 22852 genome.wustl.edu 37 10 27324281 27324281 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014915.2 -1 validated p.A1033V 0.471 257 0% 97 38.1% - - possibly_damaging(0.561) tolerated(0.13) neutral(0.444) NULL ANKRD26 22852 genome.wustl.edu 37 10 27329036 27329036 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014915.2 -1 validated p.H745N 0.000 217 0% 118 33.9% - - benign(0.427) tolerated(0.06) neutral(0.462) NULL MASTL 84930 genome.wustl.edu 37 10 27469943 27469943 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032844.3 +1 reviewed p.P775 0.984 227 0% 96 41.7% - - - - - superfamily_Kinase_like,HMMPfam_Pkinase LOC729549 729549 genome.wustl.edu 37 10 27627824 27627824 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_001130590.2 -1 model p.E137K 0.000 46 0% 15 33.3% - - - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat MPP7 143098 genome.wustl.edu 37 10 28420577 28420577 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173496.3 -1 validated p.D120G 1.000 158 0% 49 38.8% - - probably_damaging(0.99) tolerated(0.28) deleterious(0.473) superfamily_PDZ,HMMSmart_L27,HMMPfam_L27 SVIL 6840 genome.wustl.edu 37 10 29756772 29756772 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021738.2 -1 reviewed p.S1959N 1.000 84 0% 118 15.3% - - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMSmart_SM00262,superfamily_Actin depolymerizing proteins KIAA1462 57608 genome.wustl.edu 37 10 30316396 30316396 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020848.2 -1 validated p.P894L 0.002 40 0% 58 39.7% - - benign(0.004) tolerated(0.56) neutral(0.006) NULL MAP3K8 1326 genome.wustl.edu 37 10 30728029 30728029 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005204.2 +1 reviewed p.N54 0.860 84 0% 94 37.2% - - - - - NULL LOC645954 645954 genome.wustl.edu 37 10 30989138 30989138 + RNA SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XR_017086.3 +1 model NULL 1.000 213 0% 151 42.4% - - - - - - ZEB1 6935 genome.wustl.edu 37 10 31809358 31809358 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030751.5 +1 reviewed p.N365K 1.000 114 0% 30 30% - - possibly_damaging(0.911) tolerated(0.13) deleterious(0.615) NULL ZEB1 6935 genome.wustl.edu 37 10 31815847 31815847 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030751.5 +1 reviewed p.H1010Q 0.000 182 0% 47 10.6% - - benign(0.008) tolerated(0.33) neutral(0.024) NULL ARHGAP12 94134 genome.wustl.edu 37 10 32143085 32143085 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018287.5 -1 provisional p.D333A 1.000 150 0% 81 9.9% - - probably_damaging(1) tolerated(0.11) deleterious(0.772) NULL ARHGAP12 94134 genome.wustl.edu 37 10 32143119 32143119 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018287.5 -1 provisional p.E322* 1.000 122 0% 70 28.6% - - - - - NULL NRP1 8829 genome.wustl.edu 37 10 33491813 33491813 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000374823 -1 known p.E624* 1.000 107 0% 45 55.6% - - - - - NULL CUL2 8453 genome.wustl.edu 37 10 35327920 35327920 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003591.2 -1 provisional p.R269* 0.998 306 0% 167 32.9% - - - - - HMMPfam_Cullin,superfamily_Cullin repeat GJD4 219770 genome.wustl.edu 37 10 35896986 35896986 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153368.2 +1 validated p.G182D 0.411 12 0% 14 35.7% - - possibly_damaging(0.474) tolerated(0.51) neutral(0.166) PatternScan_CONNEXINS_2,HMMPfam_Connexin_CCC ANKRD30A 91074 genome.wustl.edu 37 10 37505221 37505221 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_052997.2 +1 validated p.K938N 0.714 138 0% 26 38.5% - - possibly_damaging(0.45) tolerated(1) neutral(0.147) NULL ANKRD30A 91074 genome.wustl.edu 37 10 37508550 37508550 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_052997.2 +1 validated p.N1248H 0.000 123 0% 33 39.4% - - possibly_damaging(0.634) deleterious(0) deleterious(0.666) NULL LOC646360 646360 genome.wustl.edu 37 10 37627135 37627135 + RNA SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XR_078419.1 +1 model NULL 1.000 71 0% 31 22.6% - - - - - - LOC340947 340947 genome.wustl.edu 37 10 38369451 38369451 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_001131609.2 -1 model p.E162* 1.000 77 0% 41 43.9% - - - - - HMMPfam_Paf67 LOC642424 642424 genome.wustl.edu 37 10 42680786 42680786 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_001717196.2 +1 model p.Q125 0.999 225 0% 111 21.6% - - - - - NULL ZNF33B 7582 genome.wustl.edu 37 10 43088092 43088092 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006955.1 -1 provisional p.R769I 1.000 224 0% 63 42.9% - - probably_damaging(0.996) deleterious(0.04) deleterious(0.810) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 BMS1 9790 genome.wustl.edu 37 10 43288477 43288477 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014753.3 +1 reviewed p.K325T 1.000 112 0% 54 35.2% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_P-loop containing nucleoside triphosphate hydrolases BMS1 9790 genome.wustl.edu 37 10 43292506 43292506 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014753.3 +1 reviewed p.E605G 0.084 68 0% 41 29.3% - - possibly_damaging(0.792) tolerated(0.44) neutral(0.309) superfamily_P-loop containing nucleoside triphosphate hydrolases RET 5979 genome.wustl.edu 37 10 43604576 43604576 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020975.4 +1 reviewed p.G387 0.008 30 0% 74 36.5% - - - - - NULL CSGALNACT2 55454 genome.wustl.edu 37 10 43650661 43650661 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018590.3 +1 provisional p.L22F 1.000 195 0% 178 12.9% - - probably_damaging(0.957) deleterious(0.01) deleterious(0.806) NULL RASGEF1A 221002 genome.wustl.edu 37 10 43693554 43693554 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_145313.2 -1 validated p.R374 0.053 161 0% 237 38.4% - - - - - HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF RASGEF1A 221002 genome.wustl.edu 37 10 43696192 43696192 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_145313.2 -1 validated p.P202T 0.918 56 0% 84 29.8% - - benign(0.025) tolerated(0.7) neutral(0.003) superfamily_Ras GEF HNRNPF 3185 genome.wustl.edu 37 10 43883006 43883006 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001098204.1 -1 reviewed p.N109 0.801 192 0% 141 14.9% - - - - - superfamily_RNA-binding domain RBD HNRNPF 3185 genome.wustl.edu 37 10 43883273 43883273 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001098204.1 -1 reviewed p.W20* 1.000 69 0% 74 21.6% - - - - - HMMSmart_SM00360,superfamily_RNA-binding domain RBD ZNF485 220992 genome.wustl.edu 37 10 44112276 44112276 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_145312.3 +1 validated p.R262I 0.997 188 0% 156 33.3% - - probably_damaging(0.959) tolerated(0.09) deleterious(0.699) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF485 220992 genome.wustl.edu 37 10 44112612 44112612 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_145312.3 +1 validated p.R374I 0.999 134 0% 127 36.2% - - benign(0.195) tolerated(0.05) neutral(0.364) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 CXCL12 6387 genome.wustl.edu 37 10 44874139 44874139 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001033886.2 -1 reviewed p.C71Y 1.000 280 0% 345 40.6% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_IL8,HMMSmart_SCY,superfamily_Chemokine_IL8 RASSF4 83937 genome.wustl.edu 37 10 45478040 45478040 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032023.3 +1 reviewed p.Q70H 1.000 55 0% 83 13.3% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL OR13A1 79290 genome.wustl.edu 37 10 45799503 45799503 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001004297.2 -1 validated p.T123M 0.959 56 0% 53 39.6% - - possibly_damaging(0.933) tolerated(0.18) neutral(0.435) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like FAM21C 253725 genome.wustl.edu 37 10 46261206 46261206 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015262.2 +1 validated p.S606F 0.034 224 0% 145 35.2% - - probably_damaging(0.963) deleterious(0) deleterious(0.850) NULL FAM21C 253725 genome.wustl.edu 37 10 46264959 46264959 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015262.2 +1 validated p.E642 0.281 176 0% 113 34.5% - - - - - NULL RBP3 5949 genome.wustl.edu 37 10 48388461 48388461 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002900.2 -1 reviewed p.R806H 0.011 8 0.000 14 0.429 - - benign(0.001) deleterious(0) neutral(0.445) HMMPfam_Peptidase_S41,HMMSmart_SM00245,superfamily_ClpP/crotonase GDF2 2658 genome.wustl.edu 37 10 48413860 48413860 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016204.1 -1 reviewed p.F336 0.849 41 0% 61 34.4% - - - - - HMMPfam_TGF_beta,HMMSmart_SM00204,superfamily_Cystine-knot cytokines GDF10 2662 genome.wustl.edu 37 10 48428836 48428836 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004962.2 -1 reviewed p.A350 0.001 61 0% 114 39.5% - - - - - NULL FRMPD2 143162 genome.wustl.edu 37 10 49450302 49450302 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001018071.3 -1 reviewed p.A157T 0.829 35 0% 43 27.9% - - probably_damaging(0.989) tolerated(0.28) deleterious(0.471) HMMSmart_SM00750 FRMPD2 143162 genome.wustl.edu 37 10 49457097 49457097 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001018071.3 -1 reviewed p.G92 0.006 23 0% 30 26.7% - - - - - HMMSmart_SM00750 ARHGAP22 58504 genome.wustl.edu 37 10 49662202 49662202 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000460425 -1 known p.A254V 0.035 107 0% 217 35.9% - - benign(0.04) - - HMMSmart_SM00324 WDFY4 57705 genome.wustl.edu 37 10 49996622 49996622 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020945.1 +1 validated p.V1286F 0.290 96 0% 54 25.9% - - possibly_damaging(0.437) deleterious(0) deleterious(0.587) NULL WDFY4 57705 genome.wustl.edu 37 10 50015956 50015956 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000312002 +1 known p.D688N 1.000 106 0% 54 31.5% - - benign(0.008) deleterious(0.04) neutral(0.349) NULL WDFY4 57705 genome.wustl.edu 37 10 50034715 50034715 + Splice_Site SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020945.1 +1 validated e35-1 1.000 44 2.3% 26 42.3% - - - - - - C10orf71 118461 genome.wustl.edu 37 10 50530702 50530702 + Missense_Mutation SNP C C T rs143752860 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001135196.1 +1 validated p.R38W 1.000 58 0% 52 40.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL C10orf71 118461 genome.wustl.edu 37 10 50532456 50532456 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001135196.1 +1 validated p.E622D 0.000 40 0% 58 32.8% - - benign(0.004) tolerated(0.52) neutral(0.009) NULL C10orf71 118461 genome.wustl.edu 37 10 50533904 50533904 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001135196.1 +1 validated p.A1105V 0.001 16 0% 20 25% - - benign(0.076) tolerated(0.12) neutral(0.266) NULL SLC18A3 6572 genome.wustl.edu 37 10 50820176 50820176 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003055.2 +1 reviewed p.P464S 1.000 17 0% 25 36% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_MFS general substrate transporter CHAT 1103 genome.wustl.edu 37 10 50833585 50833585 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020549.4 +1 reviewed p.Y273* 1.000 39 0% 52 36.5% - - - - - HMMPfam_Carn_acyltransf,superfamily_CoA-dependent acyltransferases CHAT 1103 genome.wustl.edu 37 10 50835761 50835761 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020549.4 +1 reviewed p.L347 0.990 75 0% 57 24.6% - - - - - HMMPfam_Carn_acyltransf,superfamily_CoA-dependent acyltransferases CHAT 1103 genome.wustl.edu 37 10 50856579 50856579 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020549.4 +1 reviewed p.C436* 0.927 37 0% 48 31.2% - - - - - HMMPfam_Carn_acyltransf,PatternScan_ACYLTRANSF_C_2,superfamily_CoA-dependent acyltransferases CHAT 1103 genome.wustl.edu 37 10 50873023 50873023 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020549.4 +1 reviewed p.P726 0.000 41 0% 33 48.5% - - - - - NULL OGDHL 55753 genome.wustl.edu 37 10 50944199 50944199 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018245.2 -1 validated p.I927L 1.000 59 0% 76 31.6% - - benign(0) tolerated(1) - NULL OGDHL 55753 genome.wustl.edu 37 10 50966468 50966468 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018245.2 -1 validated p.F57 0.954 10 0% 22 45.5% - - - - - NULL AGAP7 653268 genome.wustl.edu 37 10 51465417 51465417 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001077685.1 -1 provisional p.G347R 1.000 129 0% 155 46.5% - - possibly_damaging(0.829) tolerated(0.05) deleterious(0.660) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 AGAP6 414189 genome.wustl.edu 37 10 51768630 51768630 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001077665.2 +1 validated p.R249C 1.000 104 0% 109 12.8% - - benign(0) deleterious(0.03) neutral(0.364) NULL AGAP6 414189 genome.wustl.edu 37 10 51768703 51768703 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001077665.2 +1 validated p.A273V 0.997 61 0% 75 36% - - benign(0.277) tolerated(0.09) neutral(0.326) superfamily_PH domain-like SGMS1 259230 genome.wustl.edu 37 10 52071105 52071105 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_147156.3 -1 reviewed p.T271I 1.000 99 0% 43 41.9% - - probably_damaging(0.998) tolerated(0.33) deleterious(0.498) NULL PRKG1 5592 genome.wustl.edu 37 10 52912940 52912940 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006258.2 +1 validated p.K110Q 1.000 110 0.9% 30 36.7% - - benign(0.284) tolerated(0.07) neutral(0.406) superfamily_cAMP-binding domain-like CSTF2T 23283 genome.wustl.edu 37 10 53458638 53458638 + Silent SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015235.2 -1 validated p.G224 0.998 67 0% 31 35.5% - - - - - NULL MBL2 4153 genome.wustl.edu 37 10 54528264 54528264 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000242.2 -1 reviewed p.T127I 0.000 37 0% 20 55% - - benign(0.021) tolerated(0.37) neutral(0.020) HMMSmart_SM00034 PCDH15 65217 genome.wustl.edu 37 10 55582039 55582039 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001142763.1 -1 reviewed p.T1823N 0.065 360 0.3% 282 34% - - unknown(0) deleterious(0.01) - NULL PCDH15 65217 genome.wustl.edu 37 10 55582307 55582307 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001142763.1 -1 reviewed p.E1734K 0.000 62 0% 52 42.3% - - benign(0) tolerated(0.75) neutral(0.002) NULL PCDH15 65217 genome.wustl.edu 37 10 55587165 55587165 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001142763.1 -1 reviewed p.G1457E 1.000 54 0% 82 31.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PCDH15 65217 genome.wustl.edu 37 10 56138640 56138640 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001142763.1 -1 reviewed p.E79* 1.000 93 0% 18 38.9% - - - - - HMMSmart_SM00112 CISD1 55847 genome.wustl.edu 37 10 60047334 60047334 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018464.3 +1 validated p.D84G 1.000 178 0% 71 38% - - probably_damaging(0.956) deleterious(0) deleterious(0.844) HMMSmart_ZnF_CDGSH,HMMPfam_zf-CDGSH BICC1 80114 genome.wustl.edu 37 10 60461853 60461853 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080512.1 +1 reviewed p.T86M 0.994 73 0% 25 52% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00322,superfamily_Eukaryotic type KH-domain (KH-domain type I) PHYHIPL 84457 genome.wustl.edu 37 10 60998349 60998349 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032439.3 +1 validated p.D160E 1.000 197 0% 38 36.8% - - possibly_damaging(0.942) tolerated(0.73) neutral(0.389) superfamily_Fibronectin type III ANK3 288 genome.wustl.edu 37 10 61815604 61815604 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020987.2 -1 reviewed p.V4293I 0.081 411 0% 110 31.8% - - benign(0.03) tolerated(0.15) neutral(0.242) NULL ANK3 288 genome.wustl.edu 37 10 61828529 61828529 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020987.2 -1 reviewed p.S4037L 1.000 164 0% 36 33.3% - - possibly_damaging(0.916) - - NULL ANK3 288 genome.wustl.edu 37 10 61828561 61828561 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020987.2 -1 reviewed p.S4026 0.998 156 0% 34 38.2% - - - - - NULL ANK3 288 genome.wustl.edu 37 10 61832554 61832554 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020987.2 -1 reviewed p.I2695M 0.000 101 0% 35 48.6% - - benign(0) - - NULL ANK3 288 genome.wustl.edu 37 10 61833657 61833657 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020987.2 -1 reviewed p.R2328C 1.000 107 0% 44 9.1% - - probably_damaging(0.999) - - NULL ANK3 288 genome.wustl.edu 37 10 61834520 61834520 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020987.2 -1 reviewed p.D2040G 1.000 163 0% 56 44.6% - - probably_damaging(0.981) - - NULL ANK3 288 genome.wustl.edu 37 10 61932136 61932136 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020987.2 -1 reviewed p.A803V 1.000 171 0% 59 49.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ank,superfamily_ANK ARID5B 84159 genome.wustl.edu 37 10 63760043 63760043 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032199.2 +1 validated p.P232 0.135 85 0% 38 34.2% - - - - - NULL RTKN2 219790 genome.wustl.edu 37 10 64000949 64000949 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_145307.2 -1 provisional p.R108* 1.000 102 0% 26 26.9% - - - - - NULL RTKN2 219790 genome.wustl.edu 37 10 64022544 64022544 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_145307.2 -1 provisional p.R33* 1.000 114 0% 78 75.6% - - - - - HMMSmart_SM00742 JMJD1C 221037 genome.wustl.edu 37 10 64950739 64950739 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032776.1 -1 validated p.L2069S 1.000 386 0% 154 31.2% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL JMJD1C 221037 genome.wustl.edu 37 10 64974679 64974679 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032776.1 -1 validated p.P416 0.998 365 0% 152 33.6% - - - - - NULL CTNNA3 29119 genome.wustl.edu 37 10 68138968 68138968 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001127384.1 -1 validated p.Y558 0.923 138 0% 38 63.2% - - - - - HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin DNAJC12 56521 genome.wustl.edu 37 10 69571315 69571315 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021800.2 -1 reviewed p.Q88H 0.998 104 0% 67 13.4% - - benign(0) tolerated(0.2) neutral(0.049) superfamily_Chaperone J-domain HERC4 26091 genome.wustl.edu 37 10 69682722 69682722 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022079.2 -1 validated p.A1047V 1.000 114 0% 54 31.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain MYPN 84665 genome.wustl.edu 37 10 69926194 69926194 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032578.2 +1 validated p.L582M 1.000 71 0% 37 27% - - probably_damaging(1) tolerated(0.1) deleterious(0.786) NULL MYPN 84665 genome.wustl.edu 37 10 69926363 69926363 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032578.2 +1 validated p.K638T 0.357 38 0% 24 62.5% - - benign(0.147) tolerated(0.16) neutral(0.072) NULL HNRNPH3 3189 genome.wustl.edu 37 10 70099275 70099275 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012207.2 +1 reviewed p.G201V 1.000 336 0% 208 34.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD RUFY2 55680 genome.wustl.edu 37 10 70161389 70161389 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017987.4 -1 validated p.L130R 1.000 127 0% 167 18% - - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_RUN DNA2 1763 genome.wustl.edu 37 10 70176563 70176563 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080449.1 -1 provisional p.R1092K 1.000 93 0% 97 39.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases DNA2 1763 genome.wustl.edu 37 10 70178926 70178926 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000440722 -1 known p.A266T 0.992 134 0% 126 39.7% - - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases TMEM14D 645203 genome.wustl.edu 37 10 70304323 70304323 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_928242.3 -1 model p.P90S 0.819 292 0% 203 14.3% - - - - - HMMPfam_Tmemb_14 TMEM14D 645203 genome.wustl.edu 37 10 70304547 70304547 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_928242.3 -1 model p.G15D 0.919 231 0% 193 35.8% - - - - - HMMPfam_Tmemb_14 TET1 80312 genome.wustl.edu 37 10 70360781 70360781 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030625.2 +1 validated p.K653T 1.000 119 0% 117 30.8% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL KIAA1279 26128 genome.wustl.edu 37 10 70775798 70775798 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015634.3 +1 reviewed p.P498S 0.302 71 0% 49 32.7% - - possibly_damaging(0.703) tolerated(0.06) deleterious(0.575) NULL VPS26A 9559 genome.wustl.edu 37 10 70930975 70930975 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004896.3 +1 reviewed p.R312* 1.000 86 0% 63 23.8% - - - - - NULL SUPV3L1 6832 genome.wustl.edu 37 10 70956771 70956771 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003171.3 +1 provisional p.L319V 0.997 198 0% 90 37.8% - - benign(0.013) tolerated(0.67) neutral(0.003) superfamily_SSF52540 TSPAN15 23555 genome.wustl.edu 37 10 71266594 71266594 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012339.3 +1 reviewed p.V249M 1.000 9 0.000 24 0.458 - - probably_damaging(0.96) deleterious(0.01) deleterious(0.808) HMMPfam_Tetraspannin COL13A1 1305 genome.wustl.edu 37 10 71657249 71657249 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001130103.1 +1 reviewed p.P226S 0.296 48 0% 61 42.6% - - benign(0) - - NULL SAR1A 56681 genome.wustl.edu 37 10 71913656 71913656 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001142648.1 -1 validated p.D140Y 1.000 354 0% 272 29.8% - - possibly_damaging(0.952) tolerated(0.23) neutral(0.437) HMMSmart_SM00178,HMMSmart_SM00177,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases PRF1 5551 genome.wustl.edu 37 10 72360604 72360604 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001083116.1 -1 reviewed p.V19I 0.000 21 0% 28 39.3% - - benign(0.016) tolerated(0.34) neutral(0.024) NULL ADAMTS14 140766 genome.wustl.edu 37 10 72520169 72520169 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_139155.2 +1 reviewed p.R1081C 0.822 25 0% 46 28.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL C10orf27 219793 genome.wustl.edu 37 10 72531154 72531154 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152710.2 -1 validated p.S345L 0.002 163 0% 170 36.5% - - benign(0.275) deleterious(0.01) neutral(0.435) NULL UNC5B 219699 genome.wustl.edu 37 10 73045099 73045099 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_170744.3 +1 validated p.F155 1.000 19 0% 41 31.7% - - - - - HMMPfam_I-set,superfamily_Immunoglobulin CDH23 64072 genome.wustl.edu 37 10 73269900 73269900 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022124.5 +1 reviewed p.V69 0.999 88 0% 102 35.3% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like C10orf54 64115 genome.wustl.edu 37 10 73521633 73521633 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022153.1 -1 validated p.G78V 0.018 66 0% 102 11.8% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin CDH23 64072 genome.wustl.edu 37 10 73537537 73537537 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022124.5 +1 reviewed p.T1649M 0.998 43 0% 75 36% - - probably_damaging(0.997) tolerated(0.06) deleterious(0.788) HMMPfam_Cadherin,superfamily_Cadherin-like SPOCK2 9806 genome.wustl.edu 37 10 73847943 73847943 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014767.2 -1 validated p.I48 1.000 18 0% 48 41.7% - - - - - NULL ANAPC16 119504 genome.wustl.edu 37 10 73983722 73983722 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173473.2 +1 validated p.S17Y 1.000 129 0% 100 24% - - unknown(0) - - NULL MICU1 10367 genome.wustl.edu 37 10 74322758 74322758 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006077.2 -1 validated p.K75N 0.994 488 0% 149 25.5% - - benign(0.11) deleterious(0.04) neutral(0.357) NULL ANXA7 310 genome.wustl.edu 37 10 75148118 75148118 + Missense_Mutation SNP C C T rs142735473 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004034.2 -1 reviewed p.D186N 0.917 185 0% 71 40.8% - - benign(0.416) tolerated(0.19) neutral(0.184) superfamily_Annexin PPP3CB 5532 genome.wustl.edu 37 10 75231343 75231343 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001142353.1 -1 validated p.Y184 1.000 112 0% 54 24.1% - - - - - HMMPfam_Metallophos,HMMSmart_PP2Ac,superfamily_SSF56300 USP54 159195 genome.wustl.edu 37 10 75264669 75264669 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152586.3 -1 provisional p.R1417H 1.000 121 0% 98 36.7% - - benign(0.015) deleterious(0) neutral(0.445) NULL SYNPO2L 79933 genome.wustl.edu 37 10 75413402 75413402 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001114133.1 -1 validated p.D89 0.004 25 0% 49 28.6% - - - - - superfamily_PDZ domain-like AGAP5 729092 genome.wustl.edu 37 10 75435182 75435182 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001144000.1 -1 validated p.M412I 0.995 79 0% 74 44.6% - - benign(0) tolerated(0.47) neutral(0.011) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like KIAA0913 23053 genome.wustl.edu 37 10 75560079 75560079 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000412198 +1 known p.R895H 0.002 61 0% 92 40.2% - - - - - NULL NDST2 8509 genome.wustl.edu 37 10 75563402 75563402 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003635.3 -1 reviewed p.A691V 1.000 88 0% 169 11.8% - - probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases NDST2 8509 genome.wustl.edu 37 10 75563412 75563412 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003635.3 -1 reviewed p.R688W 1.000 87 1.1% 156 37.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases KAT6B 23522 genome.wustl.edu 37 10 76790676 76790676 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012330.2 +1 validated p.P2032S 1.000 34 0% 33 39.4% - - probably_damaging(0.999) - - NULL SAMD8 142891 genome.wustl.edu 37 10 76910812 76910812 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144660.2 +1 validated p.R176* 1.000 53 0% 52 40.4% - - - - - NULL ENSG00000233745 0 genome.wustl.edu 37 10 77160787 77160787 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000438638 +1 known p.R10I 0.000 29 0% 75 40% - - unknown(0) - - NULL KCNMA1 3778 genome.wustl.edu 37 10 78729780 78729780 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001014797.2 -1 reviewed p.R717Q 1.000 278 0% 99 31.3% - - possibly_damaging(0.477) tolerated(0.08) neutral(0.458) NULL KCNMA1 3778 genome.wustl.edu 37 10 78832919 78832919 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001014797.2 -1 reviewed p.S562N 1.000 100 0% 28 35.7% - - benign(0.259) tolerated(0.09) neutral(0.324) HMMPfam_BK_channel_a,superfamily_NAD(P)-binding Rossmann-fold domains KCNMA1 3778 genome.wustl.edu 37 10 78850185 78850185 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001014797.2 -1 reviewed p.V436A 1.000 172 0% 82 36.6% - - possibly_damaging(0.56) deleterious(0.01) deleterious(0.597) superfamily_NAD(P)-binding Rossmann-fold domains ZMIZ1 57178 genome.wustl.edu 37 10 81050780 81050780 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020338.3 +1 validated p.S202L 0.998 37 0% 80 41.2% - - probably_damaging(0.975) deleterious(0.01) deleterious(0.823) NULL FAM22B 729262 genome.wustl.edu 37 10 81463611 81463611 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000429828 +1 known p.F82L 0.000 333 0% 534 20.6% - - benign(0) tolerated(0.21) neutral(0.044) NULL FAM213A 84293 genome.wustl.edu 37 10 82185630 82185630 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032333.4 +1 validated p.A93 0.007 94 0% 101 38.6% - - - - - superfamily_Thiordxn-like_fd TSPAN14 81619 genome.wustl.edu 37 10 82276062 82276062 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030927.2 +1 validated p.A242T 0.998 48 0% 83 45.8% - - benign(0.129) tolerated(0.23) neutral(0.053) HMMPfam_Tetraspannin CDHR1 92211 genome.wustl.edu 37 10 85974256 85974256 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033100.2 +1 reviewed p.P820L 0.246 73 0% 106 40.6% - - probably_damaging(0.999) tolerated(0.07) deleterious(0.809) NULL LRIT2 340745 genome.wustl.edu 37 10 85984759 85984759 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001017924.2 -1 validated p.S74 0.897 65 0% 76 32.9% - - - - - superfamily_SSF52058 OPN4 94233 genome.wustl.edu 37 10 88419065 88419065 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001030015.2 +1 validated p.P225S 1.000 128 0% 186 39.8% - - probably_damaging(0.983) deleterious(0.04) deleterious(0.778) HMMPfam_7tm_1,superfamily_SSF81321 LDB3 11155 genome.wustl.edu 37 10 88485990 88485990 + Missense_Mutation SNP A A T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007078.2 +1 reviewed p.D692V 1.000 96 0% 43 14% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_LIM,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain) BMPR1A 657 genome.wustl.edu 37 10 88671996 88671996 + Splice_Site SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004329.2 +1 reviewed e6-1 1.000 112 0% 60 40% - - - - - - FAM35A 54537 genome.wustl.edu 37 10 88912440 88912440 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_019054.2 +1 validated p.N443K 1.000 88 0% 57 33.3% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL FAM35A 54537 genome.wustl.edu 37 10 88950307 88950307 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_019054.2 +1 validated p.S792I 0.000 224 0% 89 10.1% - - possibly_damaging(0.538) tolerated(0.05) deleterious(0.527) NULL KLLN 100144748 genome.wustl.edu 37 10 89621849 89621849 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001126049.1 -1 validated p.W132* 1.000 29 0% 69 33.3% - - - - - NULL PTEN 5728 genome.wustl.edu 37 10 89624245 89624245 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000371953 +1 known p.E7* 1.000 199 0% 263 78.7% - - - - - NULL RNLS 55328 genome.wustl.edu 37 10 90122415 90122415 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001031709.2 -1 validated p.L198 1.000 123 0% 39 33.3% - - - - - superfamily_FAD/NAD(P)-binding domain LIPJ 142910 genome.wustl.edu 37 10 90356682 90356682 + Missense_Mutation SNP A A T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001010939.2 +1 validated p.N238Y 0.935 83 0% 26 80.8% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Abhydrolase_1,superfamily_alpha/beta-Hydrolases LIPK 643414 genome.wustl.edu 37 10 90492005 90492005 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080518.1 +1 provisional p.R165* 0.979 142 0% 57 14% - - - - - HMMPfam_Abhydrolase_1,superfamily_SSF53474 FAS 355 genome.wustl.edu 37 10 90750653 90750653 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000043.3 +1 reviewed p.L7P 0.001 42 0% 57 28.1% - - probably_damaging(0.996) deleterious(0.02) deleterious(0.845) NULL CH25H 9023 genome.wustl.edu 37 10 90966723 90966723 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003956.3 -1 reviewed p.R109 0.874 35 0% 60 36.7% - - - - - NULL SLC16A12 387700 genome.wustl.edu 37 10 91203589 91203589 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_213606.3 -1 validated p.F46 1.000 105 0% 33 36.4% - - - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter KIF20B 9585 genome.wustl.edu 37 10 91468936 91468936 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016195.2 +1 validated p.E54K 0.999 61 0% 28 32.1% - - benign(0.066) tolerated(0.38) neutral(0.022) superfamily_P-loop containing nucleoside triphosphate hydrolases RPP30 10556 genome.wustl.edu 37 10 92656075 92656075 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001104546.1 +1 validated p.L208S 0.993 140 0% 36 41.7% - - benign(0.042) tolerated(0.12) neutral(0.263) HMMPfam_RNase_P_p30,superfamily_PHP domain-like HECTD2 143279 genome.wustl.edu 37 10 93252196 93252196 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182765.3 +1 validated p.E463* 1.000 327 0% 187 38% - - - - - HMMSmart_HECTc,superfamily_HECT KIF11 3832 genome.wustl.edu 37 10 94405400 94405400 + Splice_Site SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004523.3 +1 reviewed e18+1 1.000 43 0% 12 58.3% - - - - - - EXOC6 54536 genome.wustl.edu 37 10 94594556 94594556 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001013848.2 +1 reviewed p.E21K 0.998 142 0% 74 40.5% - - benign(0.123) tolerated(0.16) neutral(0.069) NULL EXOC6 54536 genome.wustl.edu 37 10 94708102 94708102 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_019053.4 +1 reviewed p.S461N 1.000 87 0% 51 51% - - possibly_damaging(0.49) tolerated(0.36) neutral(0.183) HMMPfam_Sec15 MYOF 26509 genome.wustl.edu 37 10 95121223 95121223 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013451.3 -1 reviewed p.A987V 1.000 262 0% 100 37% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CEP55 55165 genome.wustl.edu 37 10 95279514 95279514 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001127182.1 +1 validated p.L381I 1.000 109 0% 64 79.7% - - probably_damaging(0.998) tolerated(0.36) deleterious(0.494) NULL PDE6C 5146 genome.wustl.edu 37 10 95381755 95381755 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006204.3 +1 reviewed p.A264S 1.000 193 0% 81 32.1% - - probably_damaging(1) tolerated(0.28) deleterious(0.531) HMMPfam_GAF,HMMSmart_GAF,superfamily_SSF55781 FRA10AC1 118924 genome.wustl.edu 37 10 95445087 95445087 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_145246.4 -1 reviewed p.D181Y 1.000 221 0% 41 36.6% - - probably_damaging(0.967) deleterious(0.01) deleterious(0.815) HMMPfam_Fra10Ac1 LGI1 9211 genome.wustl.edu 37 10 95557484 95557484 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005097.2 +1 reviewed p.R533H 0.999 54 0% 21 28.6% - - benign(0.001) deleterious(0.01) neutral(0.406) HMMPfam_EPTP SLC35G1 159371 genome.wustl.edu 37 10 95658454 95658454 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001134658.1 +1 validated p.A102V 1.000 419 0% 379 35.4% - - possibly_damaging(0.856) tolerated(0.63) neutral(0.334) HMMPfam_DUF6 PLCE1 51196 genome.wustl.edu 37 10 96030321 96030321 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016341.3 +1 reviewed p.S1490P 1.000 117 0% 45 40% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PI-PLC-X,HMMSmart_SM00148,superfamily_PLC-like phosphodiesterases PLCE1 51196 genome.wustl.edu 37 10 96044713 96044713 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016341.3 +1 reviewed p.K1676Q 1.000 91 0% 25 28% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_PLC-like phosphodiesterases PLCE1 51196 genome.wustl.edu 37 10 96058154 96058154 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016341.3 +1 reviewed p.R1729Q 1.000 102 0% 29 34.5% - - probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMSmart_SM00149,superfamily_PLC-like phosphodiesterases PLCE1 51196 genome.wustl.edu 37 10 96058346 96058346 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016341.3 +1 reviewed p.R1793H 1.000 83 0% 32 53.1% - - probably_damaging(1) tolerated(0.11) deleterious(0.772) HMMPfam_PI-PLC-Y,HMMSmart_SM00149,superfamily_PLC-like phosphodiesterases PLCE1 51196 genome.wustl.edu 37 10 96066183 96066183 + Splice_Site SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016341.3 +1 reviewed e25-1 1.000 140 0% 64 12.5% - - - - - - TBC1D12 23232 genome.wustl.edu 37 10 96291110 96291110 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015188.1 +1 validated p.H718N 1.000 123 0% 69 49.3% - - benign(0.345) deleterious(0.04) neutral(0.458) superfamily_RabGAP_TBC HELLS 3070 genome.wustl.edu 37 10 96352228 96352228 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018063.3 +1 reviewed p.S643N 1.000 116 0% 51 41.2% - - possibly_damaging(0.518) deleterious(0.02) deleterious(0.557) HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases ALDH18A1 5832 genome.wustl.edu 37 10 97371059 97371059 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002860.3 -1 reviewed p.I688 1.000 143 0% 70 44.3% - - - - - superfamily_ALDH-like,PatternScan_PROA ALDH18A1 5832 genome.wustl.edu 37 10 97380905 97380905 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002860.3 -1 reviewed p.S450 0.093 66 0% 30 30% - - - - - superfamily_ALDH-like ALDH18A1 5832 genome.wustl.edu 37 10 97385182 97385182 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002860.3 -1 reviewed p.L395M 1.000 178 0% 87 34.5% - - possibly_damaging(0.914) tolerated(0.12) deleterious(0.627) superfamily_ALDH-like TCTN3 26123 genome.wustl.edu 37 10 97445357 97445357 + Missense_Mutation SNP C C T rs55859130 byCluster;byFrequency;by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015631.5 -1 validated p.A309T 0.087 128 0% 82 36.6% - - benign(0.06) tolerated(0.5) neutral(0.014) HMMPfam_DUF1619 CCNJ 54619 genome.wustl.edu 37 10 97817687 97817687 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001134375.1 +1 validated p.R281W 0.103 276 0% 165 40% - - possibly_damaging(0.926) deleterious(0.03) deleterious(0.739) NULL ZNF518A 9849 genome.wustl.edu 37 10 97916940 97916940 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000371192 +1 known p.E287D 1.000 95 0% 25 32% - - - - - superfamily_C2H2 and C2HC zinc fingers DNTT 1791 genome.wustl.edu 37 10 98078211 98078211 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004088.3 +1 reviewed p.L102 0.007 82 0% 31 32.3% - - - - - HMMPfam_BRCT,HMMSmart_SM00292,superfamily_BRCT domain OPALIN 93377 genome.wustl.edu 37 10 98105791 98105791 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033207.3 -1 validated p.S111 0.002 88 0% 31 51.6% - - - - - NULL TLL2 7093 genome.wustl.edu 37 10 98136474 98136474 + Missense_Mutation SNP G G A rs183751282 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012465.3 -1 validated p.S808L 0.955 78 0% 115 39.1% - - benign(0.103) deleterious(0) neutral(0.453) HMMPfam_CUB,HMMSmart_CUB,superfamily_CUB TLL2 7093 genome.wustl.edu 37 10 98155128 98155128 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012465.3 -1 validated p.H514 0.751 69 0% 75 28% - - - - - HMMPfam_CUB,HMMSmart_CUB,superfamily_CUB PIK3AP1 118788 genome.wustl.edu 37 10 98383257 98383257 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152309.2 -1 validated p.F569L 0.946 138 0% 60 43.3% - - benign(0) tolerated(1) - NULL PIK3AP1 118788 genome.wustl.edu 37 10 98411275 98411275 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152309.2 -1 validated p.F282L 1.000 164 0% 108 39.8% - - probably_damaging(1) tolerated(0.13) deleterious(0.752) NULL SLIT1 6585 genome.wustl.edu 37 10 98760929 98760929 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003061.2 -1 validated p.G1515 0.999 12 0% 29 27.6% - - - - - HMMSmart_SM00041,PatternScan_CTCK_1 SLIT1 6585 genome.wustl.edu 37 10 98790534 98790534 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003061.2 -1 validated p.D854 0.993 154 0.6% 130 41.5% - - - - - HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like MORN4 118812 genome.wustl.edu 37 10 99379279 99379279 + Missense_Mutation SNP C C A rs189101810 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000370635 -1 known p.Q44H 0.001 61 0% 64 42.2% - - unknown(0) - - NULL CRTAC1 55118 genome.wustl.edu 37 10 99695931 99695931 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018058.4 -1 validated p.F139 1.000 43 0% 64 42.2% - - - - - HMMPfam_FG-GAP,superfamily_Integrin alpha N-terminal domain CRTAC1 55118 genome.wustl.edu 37 10 99696077 99696077 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018058.4 -1 validated p.R91W 1.000 39 0% 77 35.1% - - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) superfamily_Integrin alpha N-terminal domain LOXL4 84171 genome.wustl.edu 37 10 100017743 100017743 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032211.6 -1 reviewed p.G367D 1.000 19 0% 47 27.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like HPS1 3257 genome.wustl.edu 37 10 100184123 100184123 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000195.2 -1 reviewed p.W448* 1.000 42 0% 52 36.5% - - - - - NULL HPS1 3257 genome.wustl.edu 37 10 100185395 100185395 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000195.2 -1 reviewed p.P413L 0.938 27 0% 48 43.8% - - benign(0) tolerated(0.61) neutral(0.004) NULL HPSE2 60495 genome.wustl.edu 37 10 100249906 100249906 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021828.4 -1 reviewed p.V456 0.996 67 0% 34 32.4% - - - - - NULL HPSE2 60495 genome.wustl.edu 37 10 100995408 100995408 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021828.4 -1 reviewed p.R51I 1.000 122 0% 163 41.1% - - probably_damaging(0.976) deleterious(0) deleterious(0.863) NULL ENTPD7 57089 genome.wustl.edu 37 10 101421277 101421277 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020354.3 +1 validated p.R28Q 0.996 249 0% 262 34.7% - - benign(0.051) tolerated(0.25) neutral(0.040) NULL DNMBP 23268 genome.wustl.edu 37 10 101636953 101636953 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015221.2 -1 validated p.K1563N 1.000 138 0% 97 11.3% - - possibly_damaging(0.929) deleterious(0.02) deleterious(0.759) HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain CPN1 1369 genome.wustl.edu 37 10 101835789 101835789 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001308.2 -1 reviewed p.S100L 0.009 37 0% 37 78.4% - - possibly_damaging(0.467) tolerated(0.42) neutral(0.168) HMMPfam_Peptidase_M14,HMMSmart_SM00631,superfamily_Zn-dependent exopeptidases CWF19L1 55280 genome.wustl.edu 37 10 102005640 102005640 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018294.4 -1 validated p.L294V 1.000 145 0% 110 36.4% - - possibly_damaging(0.808) deleterious(0.03) deleterious(0.668) NULL SCD 6319 genome.wustl.edu 37 10 102114286 102114286 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005063.4 +1 validated p.V182M 1.000 80 0% 96 13.5% - - probably_damaging(0.998) tolerated(0.55) deleterious(0.481) HMMPfam_FA_desaturase WNT8B 7479 genome.wustl.edu 37 10 102222938 102222938 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003393.3 +1 reviewed p.K5E 1.000 245 0% 76 26.3% - - benign(0) tolerated(0.12) neutral(0.261) NULL SEC31B 25956 genome.wustl.edu 37 10 102250561 102250561 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015490.3 -1 reviewed p.S851N 0.012 46 0% 47 10.6% - - benign(0) tolerated(0.31) neutral(0.027) NULL FAM178A 55719 genome.wustl.edu 37 10 102685872 102685872 + Nonsense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000370271 +1 known p.L713* 0.115 42 0% 31 32.3% - - - - - NULL FAM178A 55719 genome.wustl.edu 37 10 102689682 102689682 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001136123.1 +1 validated p.F754C 1.000 81 0% 50 26% - - possibly_damaging(0.855) deleterious(0.02) deleterious(0.713) NULL SEMA4G 57715 genome.wustl.edu 37 10 102733310 102733310 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017893.2 +1 reviewed p.W94R 1.000 98 1% 167 10.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema C10orf2 56652 genome.wustl.edu 37 10 102750214 102750214 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021830.4 +1 reviewed p.Q502 0.972 78 0% 104 35.6% - - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases FBXW4 6468 genome.wustl.edu 37 10 103433325 103433325 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022039.3 -1 reviewed p.R154 0.996 80 0% 43 32.6% - - - - - HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 KCNIP2 30819 genome.wustl.edu 37 10 103587926 103587926 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014591.4 -1 reviewed p.D208 0.747 105 0% 173 37% - - - - - HMMSmart_SM00054,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_EF-hand NOLC1 9221 genome.wustl.edu 37 10 103920269 103920269 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004741.3 +1 validated p.S387Y 0.049 63 0% 34 32.4% - - unknown(0) tolerated(0.06) - NULL NOLC1 9221 genome.wustl.edu 37 10 103921374 103921374 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004741.3 +1 validated p.K601N 1.000 25 0% 34 38.2% - - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_SRP40_C NOLC1 9221 genome.wustl.edu 37 10 103921868 103921868 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004741.3 +1 validated p.R648* 0.648 68 0% 55 27.3% - - - - - HMMPfam_SRP40_C CUEDC2 79004 genome.wustl.edu 37 10 104183425 104183425 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024040.2 -1 validated p.A236T 1.000 145 0% 276 38.8% - - possibly_damaging(0.876) tolerated(0.19) neutral(0.391) NULL ACTR1A 10121 genome.wustl.edu 37 10 104240624 104240624 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005736.3 -1 reviewed p.F376C 1.000 143 0% 150 33.3% - - possibly_damaging(0.899) deleterious(0) deleterious(0.800) HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain ACTR1A 10121 genome.wustl.edu 37 10 104247943 104247943 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005736.3 -1 reviewed p.V93 0.982 131 0% 130 43.1% - - - - - HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain TRIM8 81603 genome.wustl.edu 37 10 104416955 104416955 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030912.2 +1 validated p.Q500H 1.000 35 0% 68 39.7% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL SFXN2 118980 genome.wustl.edu 37 10 104491506 104491506 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178858.4 +1 validated p.K207T 1.000 66 0% 80 36.2% - - benign(0) tolerated(0.57) neutral(0.006) HMMPfam_Mtc AS3MT 57412 genome.wustl.edu 37 10 104660433 104660433 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000369880 +1 known p.C368 0.999 186 0% 104 33.7% - - - - - NULL LOC729020 729020 genome.wustl.edu 37 10 105006251 105006251 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001143909.1 +1 provisional p.Q166 1.000 269 0% 257 11.7% - - - - - HMMPfam_Ribul_P_3_epim,superfamily_RibP_bind_barrel PDCD11 22984 genome.wustl.edu 37 10 105172904 105172904 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014976.1 +1 validated p.R337Q 0.799 78 1.3% 78 34.6% - - benign(0.376) tolerated(0.4) neutral(0.136) superfamily_Nucleic_acid_OB,HMMSmart_S1 CALHM2 51063 genome.wustl.edu 37 10 105207304 105207304 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015916.4 -1 validated p.G193S 0.904 21 0% 35 65.7% - - probably_damaging(0.981) tolerated(0.16) deleterious(0.485) NULL CALHM3 119395 genome.wustl.edu 37 10 105233223 105233223 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001129742.1 -1 validated p.R261Q 0.003 7 0.000 16 0.250 - - possibly_damaging(0.78) tolerated(0.13) deleterious(0.544) NULL SLK 9748 genome.wustl.edu 37 10 105761241 105761241 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014720.2 +1 provisional p.E302* 1.000 195 0% 73 34.2% - - - - - superfamily_Protein kinase-like (PK-like) COL17A1 1308 genome.wustl.edu 37 10 105831820 105831820 + Nonsense_Mutation SNP G G A rs121912774 TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000494.3 -1 reviewed p.R145* 1.000 118 0% 59 37.3% - - - - - NULL GSTO2 119391 genome.wustl.edu 37 10 106035092 106035092 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_183239.1 +1 provisional p.R48K 0.999 28 0% 60 38.3% - - benign(0.001) tolerated(0.31) neutral(0.027) HMMPfam_GST_N,superfamily_Thiordxn-like_fd CCDC147 159686 genome.wustl.edu 37 10 106125686 106125686 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001008723.1 +1 validated p.E238* 1.000 116 0% 28 39.3% - - - - - NULL CCDC147 159686 genome.wustl.edu 37 10 106209872 106209872 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001008723.1 +1 validated p.E807G 1.000 91 0% 35 11.4% - - possibly_damaging(0.523) tolerated(0.1) neutral(0.463) NULL SORCS1 114815 genome.wustl.edu 37 10 108388965 108388965 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001013031.1 -1 reviewed p.V886A 1.000 62 0% 26 42.3% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_PKD,HMMSmart_PKD,superfamily_PKD SORCS1 114815 genome.wustl.edu 37 10 108489809 108489809 + Silent SNP A A G rs190294057 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001013031.1 -1 reviewed p.G341 1.000 138 0% 67 34.3% - - - - - HMMSmart_VPS10,superfamily_SSF110296 SORCS1 114815 genome.wustl.edu 37 10 108716314 108716314 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001013031.1 -1 reviewed p.Y195H 1.000 125 0% 99 13.1% - - benign(0.008) tolerated(0.17) neutral(0.059) superfamily_SSF110296 ADD3 120 genome.wustl.edu 37 10 111881957 111881957 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016824.3 +1 reviewed p.A350 0.000 231 0% 73 38.4% - - - - - NULL MXI1 4601 genome.wustl.edu 37 10 112044701 112044701 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_130439.3 +1 reviewed p.E282K 1.000 121 0% 36 30.6% - - probably_damaging(0.999) tolerated(0.1) deleterious(0.777) NULL SMC3 9126 genome.wustl.edu 37 10 112361457 112361457 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005445.3 +1 reviewed p.R903C 1.000 114 0% 63 42.9% - - probably_damaging(0.974) deleterious(0.03) deleterious(0.780) HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases RBM20 282996 genome.wustl.edu 37 10 112541342 112541342 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001134363.1 +1 reviewed p.F325L 0.968 58 0% 35 34.3% - - benign(0.34) tolerated(0.16) neutral(0.167) NULL RBM20 282996 genome.wustl.edu 37 10 112572426 112572426 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001134363.1 +1 reviewed p.D757 0.026 53 0% 44 34.1% - - - - - NULL GPAM 57678 genome.wustl.edu 37 10 113937748 113937748 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020918.4 -1 validated p.H98R 1.000 68 1.5% 69 40.6% - - probably_damaging(0.995) tolerated(0.14) deleterious(0.707) NULL ACSL5 51703 genome.wustl.edu 37 10 114181350 114181350 + Splice_Site SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016234.3 +1 reviewed e15-1 1.000 97 0% 42 33.3% - - - - - - TCF7L2 6934 genome.wustl.edu 37 10 114912130 114912130 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030756.4 +1 reviewed p.Y377 0.996 64 0% 50 50% - - - - - HMMPfam_HMG_box,HMMSmart_SM00398,superfamily_HMG-box NRAP 4892 genome.wustl.edu 37 10 115417251 115417251 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198060.2 -1 validated p.N113S 0.000 202 0% 66 42.4% - - benign(0) tolerated(0.99) - NULL NRAP 4892 genome.wustl.edu 37 10 115417292 115417292 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198060.2 -1 validated p.F99L 1.000 214 0% 65 35.4% - - benign(0.012) tolerated(1) neutral(0.001) NULL CASP7 840 genome.wustl.edu 37 10 115457282 115457282 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033338.4 +1 reviewed p.E43 0.222 180 0% 57 36.8% - - - - - NULL C10orf81 79949 genome.wustl.edu 37 10 115528619 115528619 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000369310 +1 known p.Q129H 0.008 190 0% 63 19% - - benign(0.001) tolerated(0.07) neutral(0.319) HMMSmart_SM00233,superfamily_PH domain-like C10orf81 79949 genome.wustl.edu 37 10 115531798 115531798 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000369310 +1 known p.D202Y 0.135 193 0% 54 46.3% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL AFAP1L2 84632 genome.wustl.edu 37 10 116061170 116061170 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001001936.1 -1 validated p.S495 0.003 136 0% 174 9.8% - - - - - NULL ABLIM1 3983 genome.wustl.edu 37 10 116335264 116335264 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002313.5 -1 reviewed p.C158 1.000 103 0% 32 43.8% - - - - - HMMPfam_LIM,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain) FAM160B1 57700 genome.wustl.edu 37 10 116620523 116620523 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020940.3 +1 validated p.L655V 1.000 291 0.3% 102 35.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL FAM160B1 57700 genome.wustl.edu 37 10 116621012 116621012 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020940.3 +1 validated p.R704Q 1.000 169 0.6% 63 41.3% - - probably_damaging(0.989) deleterious(0.01) deleterious(0.845) NULL ATRNL1 26033 genome.wustl.edu 37 10 117045869 117045869 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_207303.2 +1 validated p.E793* 1.000 135 0% 27 37% - - - - - HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like C10orf96 374355 genome.wustl.edu 37 10 118117439 118117439 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198515.2 +1 validated p.T214 0.982 113 0% 23 43.5% - - - - - NULL LOC100287264 100287264 genome.wustl.edu 37 10 120354379 120354379 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002343034.1 +1 model p.A210S 1.000 11 0% 27 48.1% - - - - - NULL C10orf46 143384 genome.wustl.edu 37 10 120460905 120460905 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153810.4 -1 validated p.E237K 1.000 171 0% 132 32.6% - - possibly_damaging(0.677) tolerated(0.48) neutral(0.252) HMMPfam_Cullin,superfamily_Cullin repeat EIF3A 8661 genome.wustl.edu 37 10 120810725 120810725 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003750.2 -1 validated p.Q769* 0.984 102 0% 66 37.9% - - - - - NULL EIF3A 8661 genome.wustl.edu 37 10 120817632 120817632 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003750.2 -1 validated p.R605W 1.000 252 0.4% 146 34.2% - - unknown(0) deleterious(0) - NULL EIF3A 8661 genome.wustl.edu 37 10 120819163 120819163 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003750.2 -1 validated p.F465S 1.000 115 0% 38 44.7% - - unknown(0) deleterious(0.01) - HMMPfam_PCI,HMMSmart_SM00088 TIAL1 7073 genome.wustl.edu 37 10 121341981 121341981 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001033925.1 -1 reviewed p.I90S 1.000 107 0% 38 36.8% - - benign(0.067) deleterious(0) neutral(0.449) HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 INPP5F 22876 genome.wustl.edu 37 10 121580368 121580368 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014937.2 +1 reviewed p.A633S 1.000 358 0% 410 39.8% - - benign(0.116) tolerated(0.71) neutral(0.010) NULL INPP5F 22876 genome.wustl.edu 37 10 121586565 121586565 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014937.2 +1 reviewed p.S891N 1.000 135 0% 61 39.3% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL MCMBP 79892 genome.wustl.edu 37 10 121591008 121591008 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024834.2 -1 validated p.C636Y 0.999 90 0% 46 41.3% - - benign(0.006) tolerated(1) - NULL WDR11 55717 genome.wustl.edu 37 10 122665427 122665427 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018117.11 +1 reviewed p.R1111W 1.000 128 0% 104 33.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ATE1 11101 genome.wustl.edu 37 10 123673319 123673319 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001001976.1 -1 reviewed p.K108R 0.995 315 0% 191 36.1% - - benign(0.002) tolerated(0.12) neutral(0.261) NULL NSMCE4A 54780 genome.wustl.edu 37 10 123727191 123727191 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017615.2 -1 validated p.K211T 1.000 415 0% 346 35.3% - - benign(0.005) tolerated(0.33) neutral(0.024) HMMPfam_Nse4 TACC2 10579 genome.wustl.edu 37 10 123781451 123781451 + Splice_Site SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_206862.2 +1 reviewed e1-1 0.893 127 0% 89 32.6% - - - - - - TACC2 10579 genome.wustl.edu 37 10 123842598 123842598 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_206862.2 +1 reviewed p.D195N 0.001 16 0% 19 52.6% - - possibly_damaging(0.913) tolerated(0.05) deleterious(0.710) NULL TACC2 10579 genome.wustl.edu 37 10 123843806 123843806 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_206862.2 +1 reviewed p.E597D 0.000 51 0% 44 43.2% - - possibly_damaging(0.915) deleterious(0) deleterious(0.811) NULL TACC2 10579 genome.wustl.edu 37 10 123903110 123903110 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_206862.2 +1 reviewed p.A1908V 0.000 47 0% 49 42.9% - - benign(0) deleterious(0) neutral(0.445) NULL TACC2 10579 genome.wustl.edu 37 10 123985889 123985889 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_206862.2 +1 reviewed p.D2539 0.193 100 0% 84 36.9% - - - - - NULL BTBD16 118663 genome.wustl.edu 37 10 124057314 124057314 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144587.2 +1 validated p.P208T 0.026 59 0% 47 36.2% - - possibly_damaging(0.794) tolerated(0.12) deleterious(0.558) NULL HTRA1 5654 genome.wustl.edu 37 10 124271543 124271543 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002775.4 +1 reviewed p.A412 0.530 117 0% 126 36.5% - - - - - HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ DMBT1 1755 genome.wustl.edu 37 10 124330409 124330409 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007329.2 +1 reviewed p.S48F 0.004 247 0% 156 34% - - possibly_damaging(0.952) deleterious(0.05) deleterious(0.741) NULL DMBT1 1755 genome.wustl.edu 37 10 124361566 124361566 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007329.2 +1 reviewed p.W1199* 0.098 127 0% 82 8.5% - - - - - HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like PSTK 118672 genome.wustl.edu 37 10 124742271 124742271 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153336.2 +1 validated p.R80Q 1.000 129 0% 107 30.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_KTI12,superfamily_P-loop containing nucleoside triphosphate hydrolases ACADSB 36 genome.wustl.edu 37 10 124803919 124803919 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001609.3 +1 reviewed p.A273V 0.001 140 0% 82 28% - - benign(0) deleterious(0.04) neutral(0.349) superfamily_Acyl-CoA dehydrogenase NM domain-like HMX3 340784 genome.wustl.edu 37 10 124895966 124895966 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001105574.1 +1 validated p.A134T 1.000 6 0.000 19 0.421 - - benign(0.138) deleterious(0.03) neutral(0.376) NULL CPXM2 119587 genome.wustl.edu 37 10 125514227 125514227 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198148.2 -1 validated p.P657S 0.993 365 0% 233 33% - - benign(0.001) tolerated(0.62) neutral(0.004) HMMSmart_SM00631,superfamily_Carboxypeptidase regulatory domain CPXM2 119587 genome.wustl.edu 37 10 125639816 125639816 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198148.2 -1 validated p.S105I 0.987 149 0% 176 18.8% - - benign(0) deleterious(0) neutral(0.445) NULL CHST15 51363 genome.wustl.edu 37 10 125804351 125804351 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015892.2 -1 validated p.D211N 0.995 173 0.6% 290 32.4% - - benign(0.202) tolerated(0.05) neutral(0.365) NULL LHPP 64077 genome.wustl.edu 37 10 126301863 126301863 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022126.3 +1 validated p.K249 0.985 34 0% 76 42.1% - - - - - superfamily_SSF56784 FAM175B 23172 genome.wustl.edu 37 10 126495403 126495403 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032182.3 +1 validated p.G26* 1.000 106 0% 181 32% - - - - - NULL CTBP2 1488 genome.wustl.edu 37 10 126683167 126683167 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022802.2 -1 reviewed p.I757 0.196 107 0.9% 120 45% - - - - - HMMPfam_2-Hacid_dh,HMMPfam_2-Hacid_dh_C,superfamily_NAD(P)-bd CTBP2 1488 genome.wustl.edu 37 10 126683226 126683226 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022802.2 -1 reviewed p.R738* 1.000 60 0% 87 74.7% - - - - - HMMPfam_2-Hacid_dh,HMMPfam_2-Hacid_dh_C,superfamily_NAD(P)-bd CTBP2 1488 genome.wustl.edu 37 10 126727577 126727577 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001083914.1 -1 reviewed p.R16K 1.000 190 0% 164 42.1% - - benign(0.069) tolerated(0.18) neutral(0.060) NULL C10orf137 26098 genome.wustl.edu 37 10 127436431 127436431 + Splice_Site SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015608.2 +1 validated e20-1 1.000 104 0% 30 40% - - - - - - FAM196A 642938 genome.wustl.edu 37 10 128973774 128973774 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001039762.2 -1 validated p.G296R 1.000 25 0% 41 26.8% - - probably_damaging(1) tolerated(0.1) deleterious(0.786) NULL NPS 594857 genome.wustl.edu 37 10 129347803 129347803 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001030013.1 +1 provisional p.V20A 0.003 416 0% 103 35% - - benign(0.028) tolerated(0.3) neutral(0.030) NULL MKI67 4288 genome.wustl.edu 37 10 129903782 129903782 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002417.4 -1 reviewed p.P2108S 0.000 634 0% 352 34.4% - - possibly_damaging(0.863) tolerated(0.23) neutral(0.375) HMMPfam_K167R MKI67 4288 genome.wustl.edu 37 10 129905233 129905233 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002417.4 -1 reviewed p.K1624R 0.000 418 0% 190 42.1% - - possibly_damaging(0.883) tolerated(0.68) neutral(0.347) HMMPfam_K167R MKI67 4288 genome.wustl.edu 37 10 129905807 129905807 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002417.4 -1 reviewed p.A1433T 0.000 511 0% 274 11.7% - - benign(0.008) tolerated(0.21) neutral(0.044) HMMPfam_K167R MKI67 4288 genome.wustl.edu 37 10 129913402 129913402 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002417.4 -1 reviewed p.G424* 0.000 76 0% 69 27.5% - - - - - NULL MKI67 4288 genome.wustl.edu 37 10 129913938 129913938 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002417.4 -1 reviewed p.K245T 0.952 166 0% 106 41.5% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL EBF3 253738 genome.wustl.edu 37 10 131638559 131638559 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005463.1 -1 validated p.Q525R 1.000 48 0% 90 15.6% - - benign(0.006) tolerated(0.19) neutral(0.050) NULL EBF3 253738 genome.wustl.edu 37 10 131639252 131639252 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005463.1 -1 validated p.V464I 1.000 100 0% 199 40.7% - - benign(0) tolerated(0.39) neutral(0.016) NULL GLRX3 10539 genome.wustl.edu 37 10 131969898 131969898 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006541.3 +1 provisional p.T274 0.978 201 0% 114 25.4% - - - - - HMMPfam_Glutaredoxin,superfamily_Thiordxn-like_fd TCERG1L 256536 genome.wustl.edu 37 10 132896662 132896662 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_174937.3 -1 validated p.R504I 0.999 312 0% 434 28.6% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_FF TCERG1L 256536 genome.wustl.edu 37 10 132902535 132902535 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_174937.3 -1 validated p.R493Q 0.980 115 0% 148 40.5% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_FF,HMMSmart_FF,superfamily_FF BNIP3 664 genome.wustl.edu 37 10 133784270 133784270 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004052.2 -1 reviewed p.P137 0.130 162 0% 282 37.6% - - - - - HMMPfam_BNIP3 LRRC27 80313 genome.wustl.edu 37 10 134188617 134188617 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001143757.1 +1 validated p.T488 0.007 82 0% 142 33.1% - - - - - NULL C10orf91 170393 genome.wustl.edu 37 10 134261528 134261528 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173541.2 +1 validated p.V134A 0.003 55 0% 114 35.1% - - benign(0.007) - - NULL TTC40 54777 genome.wustl.edu 37 10 134755143 134755143 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173572.3 -1 validated p.A86 0.991 28 0% 86 43% - - - - - NULL GPR123 84435 genome.wustl.edu 37 10 134896164 134896164 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000392609 +1 known p.G238D 0.000 41 0% 87 31% - - unknown(0) - - NULL KNDC1 85442 genome.wustl.edu 37 10 134999888 134999888 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152643.6 +1 validated p.L346M 0.000 6 0.000 14 0.286 - - benign(0.386) tolerated(0.15) neutral(0.364) NULL TUBGCP2 10844 genome.wustl.edu 37 10 135095793 135095793 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006659.2 -1 validated p.E781D 0.995 13 0% 41 43.9% - - benign(0) tolerated(0.7) neutral(0.002) NULL TUBGCP2 10844 genome.wustl.edu 37 10 135099067 135099067 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006659.2 -1 validated p.Q596H 1.000 25 0% 54 38.9% - - benign(0.382) tolerated(0.16) neutral(0.181) HMMPfam_Spc97_Spc98 CALY 50632 genome.wustl.edu 37 10 135142414 135142414 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015722.3 -1 validated p.V27A 0.999 21 0% 35 37.1% - - possibly_damaging(0.465) deleterious(0) deleterious(0.598) HMMPfam_Calcyon PRAP1 118471 genome.wustl.edu 37 10 135165543 135165543 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_145202.4 +1 validated p.E54G 0.008 31 0% 62 37.1% - - probably_damaging(0.957) deleterious(0) deleterious(0.845) NULL C10orf125 282969 genome.wustl.edu 37 10 135168879 135168879 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001098483.1 -1 validated p.L154 0.000 14 0% 52 38.5% - - - - - NULL ECHS1 1892 genome.wustl.edu 37 10 135182521 135182521 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004092.3 -1 reviewed p.G140 0.995 90 0% 179 46.4% - - - - - HMMPfam_ECH,PatternScan_ENOYL_COA_HYDRATASE,superfamily_SSF52096 MTG1 92170 genome.wustl.edu 37 10 135209264 135209264 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138384.2 +1 validated p.E54K 1.000 66 0% 145 40.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases ATHL1 80162 genome.wustl.edu 37 11 290533 290533 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025092.4 +1 validated p.R135W 0.038 18 0% 25 56% - - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL IFITM5 387733 genome.wustl.edu 37 11 299488 299488 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001025295.1 -1 provisional p.M1I 1.000 16 0% 44 20.5% - - probably_damaging(0.978) deleterious(0) deleterious(0.865) NULL B4GALNT4 338707 genome.wustl.edu 37 11 376260 376260 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178537.4 +1 validated p.F402L 1.000 8 0.000 31 0.258 - - unknown(0) deleterious(0) - NULL PHRF1 57661 genome.wustl.edu 37 11 608470 608470 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020901.2 +1 validated p.A1004V 0.000 10 0% 14 50% - - benign(0.079) tolerated(0.06) neutral(0.328) NULL PHRF1 57661 genome.wustl.edu 37 11 611774 611774 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020901.2 +1 validated p.G1648 1.000 19 0% 58 43.1% - - - - - NULL CDHR5 53841 genome.wustl.edu 37 11 619689 619689 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021924.4 -1 reviewed p.E391K 0.009 38 0% 88 30.7% - - probably_damaging(0.955) tolerated(0.17) neutral(0.458) superfamily_Cadherin-like DEAF1 10522 genome.wustl.edu 37 11 681026 681026 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021008.2 -1 validated p.T312P 0.000 273 0% 411 37.2% - - benign(0.002) tolerated(0.21) neutral(0.044) NULL PDDC1 347862 genome.wustl.edu 37 11 774012 774012 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182612.2 -1 validated p.I81 0.706 32 0% 70 32.9% - - - - - HMMPfam_DJ-1_PfpI,superfamily_Class I glutamine amidotransferase-like MUC5B 727897 genome.wustl.edu 37 11 1251266 1251266 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002458.1 +1 validated p.D421N 0.029 18 0% 61 37.7% - - probably_damaging(0.982) - - HMMSmart_SM00214,HMMSmart_SM00216,HMMSmart_SM00215,superfamily_PMP inhibitors MUC5B 727897 genome.wustl.edu 37 11 1265554 1265554 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002458.1 +1 validated p.A2485S 0.010 320 0% 551 18.3% - - benign(0.104) - - NULL TOLLIP 54472 genome.wustl.edu 37 11 1311514 1311514 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_019009.3 -1 validated p.V103 0.997 101 0% 164 36% - - - - - HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) KRTAP5-3 387266 genome.wustl.edu 37 11 1629487 1629487 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001012708.2 -1 validated p.K43N 1.000 89 0% 160 14.4% - - unknown(0) tolerated(0.46) - NULL CTSD 1509 genome.wustl.edu 37 11 1782585 1782585 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001909.3 -1 reviewed p.A61V 0.007 69 0% 130 42.3% - - benign(0) tolerated(0.23) neutral(0.042) superfamily_Pept_Aspartic LSP1 4046 genome.wustl.edu 37 11 1908482 1908482 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002339.2 +1 reviewed p.D290Y 1.000 84 1.2% 167 28.7% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL IGF2 3481 genome.wustl.edu 37 11 2161456 2161456 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001127598.1 -1 reviewed p.R24H 0.454 28 0% 62 11.3% - - benign(0.169) deleterious(0) neutral(0.460) NULL CD81 975 genome.wustl.edu 37 11 2416741 2416741 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004356.3 +1 reviewed p.F150 1.000 9 0.000 61 0.180 - - - - - superfamily_Tetraspanin,HMMPfam_Tetraspannin TRPM5 29850 genome.wustl.edu 37 11 2439059 2439059 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014555.3 -1 validated p.L303 1.000 15 0% 54 42.6% - - - - - NULL TRPM5 29850 genome.wustl.edu 37 11 2439430 2439430 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014555.3 -1 validated p.F291L 0.999 30 0% 77 37.7% - - possibly_damaging(0.818) tolerated(0.53) neutral(0.317) NULL NAP1L4 4676 genome.wustl.edu 37 11 2976993 2976993 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005969.3 -1 reviewed p.S299Y 0.989 130 0% 85 38.8% - - possibly_damaging(0.893) deleterious(0) deleterious(0.796) HMMPfam_NAP CARS 833 genome.wustl.edu 37 11 3028127 3028127 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001014437.1 -1 reviewed p.R711W 1.000 30 0% 48 27.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZNF195 7748 genome.wustl.edu 37 11 3392255 3392255 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001130520.1 -1 validated p.R59Q 0.000 171 0% 81 29.6% - - probably_damaging(1) tolerated(0.34) deleterious(0.523) HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) NUP98 4928 genome.wustl.edu 37 11 3704496 3704496 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016320.4 -1 reviewed p.L1618F 1.000 156 0% 77 37.7% - - possibly_damaging(0.611) tolerated(0.71) neutral(0.213) NULL PGAP2 27315 genome.wustl.edu 37 11 3846314 3846314 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014489.2 +1 validated p.A258V 0.998 203 0.5% 264 40.9% - - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMPfam_Frag1 STIM1 6786 genome.wustl.edu 37 11 4112725 4112725 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003156.3 +1 reviewed p.A585 1.000 54 0% 72 16.7% - - - - - NULL TRIM21 6737 genome.wustl.edu 37 11 4409757 4409757 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003141.3 -1 reviewed p.T170A 0.006 88 0% 42 9.5% - - benign(0) deleterious(0.01) neutral(0.406) NULL ENSG00000225101 0 genome.wustl.edu 37 11 4496847 4496847 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000416879 +1 known p.A53 0.001 77 0% 28 46.4% - - - - - superfamily_Family A G protein-coupled receptor-like OR52M1 119772 genome.wustl.edu 37 11 4567169 4567169 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001004137.1 +1 validated p.A250V 0.616 403 0% 160 35.6% - - probably_damaging(0.999) tolerated(1) deleterious(0.490) HMMPfam_7tm_1,superfamily_SSF81321 C11orf40 143501 genome.wustl.edu 37 11 4593396 4593396 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144663.1 -1 provisional p.L146S 0.171 153 0% 78 29.5% - - unknown(0) - - NULL OR51E2 81285 genome.wustl.edu 37 11 4703877 4703877 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030774.3 -1 validated p.A22V 0.152 63 0% 35 40% - - benign(0.117) tolerated(1) neutral(0.009) superfamily_Family A G protein-coupled receptor-like OR51T1 401665 genome.wustl.edu 37 11 4903187 4903187 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001004759.1 +1 provisional p.P47S 0.927 247 0% 118 17.8% - - probably_damaging(1) deleterious(0.04) deleterious(0.849) superfamily_Family A G protein-coupled receptor-like OR51A2 401667 genome.wustl.edu 37 11 4976546 4976546 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001004748.1 -1 provisional p.R133I 0.997 294 0% 135 35.6% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_7tm_1,superfamily_SSF81321 HBG1 3047 genome.wustl.edu 37 11 5269676 5269676 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000559.2 -1 reviewed p.F119 0.003 111 0% 50 40% - - - - - superfamily_Globin-like HBG2 3048 genome.wustl.edu 37 11 5275536 5275536 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000184.2 -1 reviewed p.P101S 1.000 292 0% 101 18.8% - - benign(0.304) deleterious(0.01) deleterious(0.500) HMMPfam_Globin,superfamily_Globin-like HBE1 3046 genome.wustl.edu 37 11 5290702 5290702 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005330.3 -1 reviewed p.V99 1.000 151 0% 30 36.7% - - - - - HMMPfam_Globin,superfamily_Globin-like OR51M1 390059 genome.wustl.edu 37 11 5411371 5411371 + Missense_Mutation SNP G G A rs181392844 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001004756.2 +1 validated p.R248H 0.240 143 0.7% 55 34.5% - - probably_damaging(0.973) deleterious(0) deleterious(0.859) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR52D1 390066 genome.wustl.edu 37 11 5510141 5510141 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005163.2 +1 validated p.L69F 0.997 270 0% 116 36.2% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like UBQLN3 50613 genome.wustl.edu 37 11 5529180 5529180 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017481.2 -1 reviewed p.E537* 1.000 20 0% 21 38.1% - - - - - NULL TRIM5 85363 genome.wustl.edu 37 11 5686556 5686556 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033034.2 -1 reviewed p.S322Y 0.085 91 0% 53 22.6% - - benign(0) tolerated(1) - NULL TRIM5 85363 genome.wustl.edu 37 11 5686814 5686814 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033092.2 -1 reviewed p.L323V 0.000 101 0% 70 41.4% - - unknown(0) tolerated(0.66) - NULL TRIM5 85363 genome.wustl.edu 37 11 5687302 5687302 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000380015 -1 known p.R252C 0.000 148 0% 73 32.9% - - benign(0.048) tolerated(0.21) neutral(0.047) NULL TRIM22 10346 genome.wustl.edu 37 11 5717810 5717810 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006074.3 +1 reviewed p.C116* 0.491 75 0% 70 12.9% - - - - - HMMPfam_zf-B_box,HMMSmart_SM00336 OR52N5 390075 genome.wustl.edu 37 11 5799132 5799132 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001001922.2 -1 validated p.K245E 0.931 226 0% 47 12.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR56A3 390083 genome.wustl.edu 37 11 5969271 5969271 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001003443.2 +1 provisional p.L232R 0.280 186 0% 87 36.8% - - probably_damaging(0.965) deleterious(0) deleterious(0.851) HMMPfam_7tm_1,superfamily_SSF81321 OR56A5 390084 genome.wustl.edu 37 11 5989708 5989708 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002343047.1 -1 model p.N6T 0.001 145 0% 113 36.3% - - - - - NULL OR52L1 338751 genome.wustl.edu 37 11 6007675 6007675 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005173.2 -1 validated p.I162 0.007 91 0% 44 18.2% - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR56A1 120796 genome.wustl.edu 37 11 6048148 6048148 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001001917.2 -1 validated p.L263 0.442 103 0% 31 32.3% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR52L2P 79274 genome.wustl.edu 37 11 6078704 6078704 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000316540 -1 known p.V268I 0.000 151 0% 31 32.3% - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like FAM160A2 84067 genome.wustl.edu 37 11 6238808 6238808 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032127.3 -1 validated p.G684* 1.000 81 0% 84 29.8% - - - - - NULL CNGA4 1262 genome.wustl.edu 37 11 6261526 6261526 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001037329.2 +1 validated p.R168C 1.000 21 0% 36 38.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels TRIM3 10612 genome.wustl.edu 37 11 6470629 6470629 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006458.2 -1 reviewed p.G663 0.096 38 0% 28 32.1% - - - - - superfamily_NHL repeat TRIM3 10612 genome.wustl.edu 37 11 6479055 6479055 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006458.2 -1 reviewed p.A129D 1.000 33 0% 59 11.9% - - benign(0.147) tolerated(0.17) neutral(0.072) HMMPfam_zf-B_box,HMMSmart_SM00336 DNHD1 144132 genome.wustl.edu 37 11 6591951 6591951 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144666.2 +1 provisional p.A4403 1.000 21 0% 31 32.3% - - - - - HMMPfam_Dynein_heavy DNHD1 144132 genome.wustl.edu 37 11 6592364 6592364 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144666.2 +1 provisional p.A4541V 0.003 13 0% 27 29.6% - - possibly_damaging(0.806) deleterious(0.02) deleterious(0.686) HMMPfam_Dynein_heavy TPP1 1200 genome.wustl.edu 37 11 6636701 6636701 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000391.3 -1 reviewed p.S413N 1.000 207 0% 294 39.5% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Subtilisin-like DCHS1 8642 genome.wustl.edu 37 11 6644428 6644428 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003737.2 -1 reviewed p.R2827W 0.979 23 0% 76 36.8% - - possibly_damaging(0.862) deleterious(0.02) deleterious(0.716) HMMPfam_Cadherin,superfamily_Cadherin DCHS1 8642 genome.wustl.edu 37 11 6646054 6646054 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003737.2 -1 reviewed p.V2398I 0.998 77 0% 90 36.7% - - probably_damaging(0.979) tolerated(0.11) deleterious(0.694) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin DCHS1 8642 genome.wustl.edu 37 11 6648209 6648209 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003737.2 -1 reviewed p.R2021C 1.000 28 0% 48 14.6% - - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin DCHS1 8642 genome.wustl.edu 37 11 6661414 6661414 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003737.2 -1 reviewed p.Y477 1.000 50 0% 56 14.3% - - - - - superfamily_Cadherin DCHS1 8642 genome.wustl.edu 37 11 6662431 6662431 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003737.2 -1 reviewed p.D138 1.000 10 0% 21 28.6% - - - - - HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin OR2AG2 338755 genome.wustl.edu 37 11 6789965 6789965 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001004490.1 -1 provisional p.S75Y 0.183 187 0% 59 20.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 OR6A2 8590 genome.wustl.edu 37 11 6816559 6816559 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003696.2 -1 provisional p.R127 0.439 156 0% 41 17.1% - - - - - HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 OR6A2 8590 genome.wustl.edu 37 11 6816637 6816637 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003696.2 -1 provisional p.G101 0.337 206 0% 61 37.7% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 ZNF214 7761 genome.wustl.edu 37 11 7021205 7021205 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013249.2 -1 validated p.R570Q 0.988 159 0.6% 26 23.1% - - benign(0.11) tolerated(0.75) neutral(0.010) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF214 7761 genome.wustl.edu 37 11 7022198 7022198 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013249.2 -1 validated p.R239I 1.000 95 1.1% 18 44.4% - - benign(0.395) deleterious(0.04) deleterious(0.476) superfamily_C2H2 and C2HC zinc fingers NLRP14 338323 genome.wustl.edu 37 11 7063993 7063993 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_176822.3 +1 reviewed p.E246* 0.003 106 0% 27 44.4% - - - - - HMMPfam_NACHT PPFIBP2 8495 genome.wustl.edu 37 11 7647053 7647053 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003621.2 +1 validated p.E253* 1.000 49 0% 24 50% - - - - - HMMPfam_Integrase_DNA NLRP10 338322 genome.wustl.edu 37 11 7981440 7981440 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_176821.3 -1 reviewed p.K573N 0.489 106 0% 82 35.4% - - possibly_damaging(0.718) deleterious(0.04) deleterious(0.609) NULL TUB 7275 genome.wustl.edu 37 11 8118889 8118889 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003320.4 +1 reviewed p.R323C 1.000 74 0% 68 30.9% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Tub,superfamily_Tubby_C STK33 65975 genome.wustl.edu 37 11 8494816 8494816 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030906.2 -1 validated p.R78I 0.009 99 0% 42 35.7% - - possibly_damaging(0.805) deleterious(0.01) deleterious(0.709) NULL SCUBE2 57758 genome.wustl.edu 37 11 9048979 9048979 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020974.2 -1 validated p.I849S 1.000 187 0% 125 37.6% - - possibly_damaging(0.925) deleterious(0) deleterious(0.818) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain SWAP70 23075 genome.wustl.edu 37 11 9754136 9754136 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015055.2 +1 validated p.R320H 1.000 62 0% 42 33.3% - - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) superfamily_SSF50729 SBF2 81846 genome.wustl.edu 37 11 9990071 9990071 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030962.3 -1 reviewed p.A473T 1.000 161 0% 93 11.8% - - benign(0.004) tolerated(1) - NULL AMPD3 272 genome.wustl.edu 37 11 10527398 10527398 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000480.2 +1 reviewed p.M766I 1.000 51 0% 40 35% - - benign(0) tolerated(0.33) neutral(0.024) NULL RNF141 50862 genome.wustl.edu 37 11 10552207 10552207 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016422.3 -1 reviewed p.R79W 0.996 90 0% 50 44% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CTR9 9646 genome.wustl.edu 37 11 10776737 10776737 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014633.3 +1 provisional p.Y126C 1.000 84 0% 71 11.3% - - possibly_damaging(0.899) deleterious(0.01) deleterious(0.762) NULL MICAL2 9645 genome.wustl.edu 37 11 12241936 12241936 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014632.2 +1 provisional p.N379 0.806 84 0% 92 40.2% - - - - - superfamily_FAD/NAD(P)-binding domain MICAL2 9645 genome.wustl.edu 37 11 12245009 12245009 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014632.2 +1 provisional p.L501 0.010 63 0% 87 28.7% - - - - - superfamily_Calponin-homology domain CH-domain MICAL2 9645 genome.wustl.edu 37 11 12263953 12263953 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014632.2 +1 provisional p.Q844* 1.000 27 0% 23 21.7% - - - - - NULL ARNTL 406 genome.wustl.edu 37 11 13395690 13395690 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000256172 +1 known p.V301M 0.477 161 0% 55 36.4% - - - - - NULL COPB1 1315 genome.wustl.edu 37 11 14480092 14480092 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001144061.1 -1 reviewed p.R930C 1.000 57 0% 45 31.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Coatamer_beta_C PLEKHA7 144100 genome.wustl.edu 37 11 16810680 16810680 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_175058.4 -1 validated p.R1107H 1.000 24 0% 24 41.7% - - benign(0.036) deleterious(0.05) neutral(0.347) NULL PIK3C2A 5286 genome.wustl.edu 37 11 17190961 17190961 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002645.2 -1 validated p.E110K 1.000 163 0% 102 37.3% - - possibly_damaging(0.832) tolerated(0.17) neutral(0.376) NULL ABCC8 6833 genome.wustl.edu 37 11 17415890 17415890 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000352.3 -1 reviewed p.C1490R 1.000 20 0% 44 40.9% - - possibly_damaging(0.772) deleterious(0) deleterious(0.732) HMMPfam_ABC_tran,HMMSmart_SM00382,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCC8 6833 genome.wustl.edu 37 11 17417469 17417469 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000352.3 -1 reviewed p.I1376 1.000 27 0% 59 20.3% - - - - - HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCC8 6833 genome.wustl.edu 37 11 17418553 17418553 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000352.3 -1 reviewed p.K1343N 1.000 79 0% 111 44.1% - - benign(0.245) tolerated(0.25) neutral(0.062) superfamily_P-loop containing nucleoside triphosphate hydrolases ABCC8 6833 genome.wustl.edu 37 11 17464777 17464777 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000352.3 -1 reviewed p.P472H 1.000 89 0% 52 34.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain USH1C 10083 genome.wustl.edu 37 11 17547986 17547986 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153676.3 -1 reviewed p.G194 0.000 29 0% 33 45.5% - - - - - superfamily_PDZ SERGEF 26297 genome.wustl.edu 37 11 18017406 18017406 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012139.2 -1 validated p.R187W 1.000 87 1.1% 41 46.3% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) superfamily_RCC1/BLIP-II MRGPRX4 117196 genome.wustl.edu 37 11 18195195 18195195 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_054032.3 +1 validated p.R131H 0.000 249 0% 165 32.7% - - benign(0.086) tolerated(0.61) neutral(0.010) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like GTF2H1 2965 genome.wustl.edu 37 11 18373945 18373945 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001142307.1 +1 validated p.F404L 1.000 99 0% 49 30.6% - - benign(0) tolerated(1) - NULL TSG101 7251 genome.wustl.edu 37 11 18536387 18536387 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006292.2 -1 reviewed p.G65 0.995 85 0% 57 33.3% - - - - - HMMSmart_SM00212,HMMPfam_UEV,superfamily_UBC-like ENSG00000247595 0 genome.wustl.edu 37 11 18631221 18631221 + RNA SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000501599 +1 known NULL 0.559 28 0% 22 40.9% - - - - - - SPTY2D1 144108 genome.wustl.edu 37 11 18638521 18638521 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_194285.2 -1 validated p.A26T 1.000 188 0% 150 41.3% - - possibly_damaging(0.645) tolerated(0.07) deleterious(0.545) NULL NAV2 89797 genome.wustl.edu 37 11 20066528 20066528 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182964.5 +1 validated p.A1072T 1.000 28 0% 26 30.8% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL SLC6A5 9152 genome.wustl.edu 37 11 20668481 20668481 + Splice_Site SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004211.3 +1 reviewed e14+1 1.000 182 0% 106 32.1% - - - - - - ANO5 203859 genome.wustl.edu 37 11 22281149 22281149 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_213599.2 +1 reviewed p.D498Y 0.018 303 0% 81 34.6% - - benign(0.314) tolerated(0.18) neutral(0.154) NULL GAS2 2620 genome.wustl.edu 37 11 22759271 22759271 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001143830.1 +1 reviewed p.E144K 1.000 138 0% 44 43.2% - - possibly_damaging(0.852) tolerated(0.4) neutral(0.344) HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain ANO3 63982 genome.wustl.edu 37 11 26621225 26621225 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031418.2 +1 validated p.V600 1.000 312 0% 122 41% - - - - - NULL SLC5A12 159963 genome.wustl.edu 37 11 26695020 26695020 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178498.3 -1 validated p.F546V 1.000 136 0% 38 28.9% - - benign(0.183) tolerated(0.24) neutral(0.054) NULL BBOX1 8424 genome.wustl.edu 37 11 27148962 27148962 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003986.2 +1 reviewed p.L376F 1.000 132 0% 51 41.2% - - possibly_damaging(0.937) deleterious(0.02) deleterious(0.766) superfamily_Clavaminate synthase-like CCDC34 91057 genome.wustl.edu 37 11 27362271 27362271 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030771.1 -1 validated p.S293 1.000 358 0% 99 31.3% - - - - - NULL MPPED2 744 genome.wustl.edu 37 11 30435871 30435871 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001584.2 -1 reviewed p.P224S 1.000 107 0% 39 30.8% - - probably_damaging(0.987) tolerated(0.83) neutral(0.437) HMMPfam_Metallophos,superfamily_Metallo-dependent phosphatases DCDC5 100506627 genome.wustl.edu 37 11 30928095 30928095 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002343054.1 -1 model p.V607M 0.028 137 0% 28 35.7% - - probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL DCDC5 100506627 genome.wustl.edu 37 11 30938455 30938455 + Missense_Mutation SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002343054.1 -1 model p.K336N 0.000 289 0% 92 45.7% - - benign(0.011) tolerated(0.16) neutral(0.060) NULL LOC100288976 100288976 genome.wustl.edu 37 11 31128411 31128411 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002343074.1 -1 model p.E178* 1.000 187 0% 52 38.5% - - - - - NULL CCDC73 493860 genome.wustl.edu 37 11 32635451 32635451 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001008391.2 -1 validated p.E805* 0.001 138 0% 93 43% - - - - - NULL QSER1 79832 genome.wustl.edu 37 11 32949595 32949595 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001076786.1 +1 provisional p.E8G 1.000 101 0% 25 48% - - benign(0.35) deleterious(0) deleterious(0.555) NULL DEPDC7 91614 genome.wustl.edu 37 11 33047313 33047313 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001077242.1 +1 validated p.R61Q 0.526 225 0% 105 44.8% - - possibly_damaging(0.565) tolerated(0.31) neutral(0.220) "HMMPfam_DEP,HMMSmart_SM00049,superfamily_""Winged helix"" DNA-binding domain" TCP11L1 55346 genome.wustl.edu 37 11 33076151 33076151 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001145541.1 +1 validated p.R59H 0.994 102 0% 55 27.3% - - probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL CSTF3 1479 genome.wustl.edu 37 11 33106835 33106835 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001326.2 -1 reviewed p.T651N 1.000 57 0% 30 30% - - benign(0.178) tolerated(0.15) neutral(0.258) NULL CSTF3 1479 genome.wustl.edu 37 11 33127430 33127430 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001326.2 -1 reviewed p.V153M 1.000 114 0% 20 25% - - benign(0.172) tolerated(0.29) neutral(0.044) superfamily_TPR-like HIPK3 10114 genome.wustl.edu 37 11 33308597 33308597 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005734.3 +1 validated p.K213E 1.000 81 0% 37 35.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase HIPK3 10114 genome.wustl.edu 37 11 33360956 33360956 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005734.3 +1 validated p.E497* 1.000 327 0% 139 38.8% - - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase C11orf41 25758 genome.wustl.edu 37 11 33565424 33565424 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012194.1 +1 validated p.F475C 0.000 136 0% 84 36.9% - - possibly_damaging(0.916) deleterious(0) deleterious(0.811) NULL LMO2 4005 genome.wustl.edu 37 11 33886300 33886300 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005574.3 -1 reviewed p.Q104H 1.000 14 0% 19 52.6% - - possibly_damaging(0.516) deleterious(0.03) deleterious(0.538) HMMPfam_LIM,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain) NAT10 55226 genome.wustl.edu 37 11 34163291 34163291 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024662.2 +1 validated p.A913D 1.000 259 0% 228 30.3% - - benign(0.002) tolerated(0.46) neutral(0.012) NULL EHF 26298 genome.wustl.edu 37 11 34668187 34668187 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012153.4 +1 validated p.A100V 0.989 42 0% 22 31.8% - - probably_damaging(0.991) tolerated(0.81) neutral(0.445) HMMPfam_SAM_PNT,HMMSmart_SM00251,superfamily_SAM/Pointed domain CD44 960 genome.wustl.edu 37 11 35211502 35211502 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000428726 +1 known p.G164* 0.358 125 0% 36 27.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CD44 960 genome.wustl.edu 37 11 35227666 35227666 + Silent SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000428726 +1 known p.Q408P 0.066 127 0.8% 28 21.4% - - - - - NULL RAG2 5897 genome.wustl.edu 37 11 36614684 36614684 + Missense_Mutation SNP G G T rs35942246 byFrequency TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000536.3 -1 reviewed p.F345L 0.997 338 0% 171 34.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RAG2 LRRC4C 57689 genome.wustl.edu 37 11 40137110 40137110 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020929.1 -1 validated p.L245I 1.000 86 0% 22 31.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00369,superfamily_L domain-like LOC399881 399881 genome.wustl.edu 37 11 43284564 43284564 + RNA SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XR_040375.2 -1 model NULL 1.000 60 0% 15 26.7% - - - - - - LOC399881 399881 genome.wustl.edu 37 11 43284803 43284803 + RNA SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XR_040375.2 -1 model NULL 1.000 53 0.000 8 0.750 - - - - - - ALKBH3 221120 genome.wustl.edu 37 11 43905540 43905540 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_139178.3 +1 validated p.R64H 0.235 196 0.5% 160 37.5% - - possibly_damaging(0.687) deleterious(0) deleterious(0.690) NULL ACCS 84680 genome.wustl.edu 37 11 44105064 44105064 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001127219.1 +1 validated p.E449K 0.283 93 0% 62 56.5% - - benign(0.083) tolerated(0.29) neutral(0.035) HMMPfam_Aminotran_1_2,superfamily_PyrdxlP-dep_Trfase_major EXT2 2132 genome.wustl.edu 37 11 44129529 44129529 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000401.3 +1 reviewed p.T102 1.000 168 0% 58 32.8% - - - - - NULL ALX4 60529 genome.wustl.edu 37 11 44331507 44331507 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021926.3 -1 reviewed p.A36T 1.000 10 0% 22 50% - - benign(0.001) tolerated(0.35) neutral(0.021) NULL CD82 3732 genome.wustl.edu 37 11 44639775 44639775 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002231.3 +1 reviewed p.P168S 0.000 21 0% 33 18.2% - - benign(0) tolerated(1) - superfamily_Tetraspanin,HMMPfam_Tetraspannin CHST1 8534 genome.wustl.edu 37 11 45672411 45672411 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003654.4 -1 validated p.T21 0.992 31 0% 61 44.3% - - - - - NULL MAPK8IP1 9479 genome.wustl.edu 37 11 45926754 45926754 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005456.2 +1 reviewed p.V673I 1.000 42 0% 71 38% - - possibly_damaging(0.871) deleterious(0.02) deleterious(0.722) HMMPfam_PID,HMMSmart_PTB,superfamily_SSF50729 GYLTL1B 120071 genome.wustl.edu 37 11 45947785 45947785 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152312.3 +1 validated p.A299T 1.000 64 0% 103 33% - - benign(0.345) deleterious(0.03) deleterious(0.473) HMMPfam_Glyco_transf_8,superfamily_Nucleotide-diphospho-sugar transferases GYLTL1B 120071 genome.wustl.edu 37 11 45947885 45947885 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152312.3 +1 validated p.A332V 0.998 81 0% 144 37.5% - - benign(0) tolerated(1) - HMMPfam_Glyco_transf_8,superfamily_Nucleotide-diphospho-sugar transferases HARBI1 283254 genome.wustl.edu 37 11 46637623 46637623 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173811.3 -1 validated p.A55 0.001 42 0% 71 40.8% - - - - - NULL ZNF408 79797 genome.wustl.edu 37 11 46726086 46726086 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024741.2 +1 validated p.S279L 0.001 18 0% 52 21.2% - - probably_damaging(0.955) deleterious(0) deleterious(0.843) NULL F2 2147 genome.wustl.edu 37 11 46745064 46745064 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000506.3 +1 reviewed p.V185 0.003 32 0% 23 43.5% - - - - - HMMPfam_Kringle,HMMSmart_KR,superfamily_Kringle-like F2 2147 genome.wustl.edu 37 11 46748151 46748151 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000506.3 +1 reviewed p.P326 0.000 59 0% 82 31.7% - - - - - HMMPfam_Thrombin_light NR1H3 10062 genome.wustl.edu 37 11 47282072 47282072 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005693.2 +1 validated p.C115 0.875 30 0% 59 22% - - - - - HMMPfam_zf-C4,HMMSmart_SM00399,PatternScan_NUCLEAR_REC_DBD_1,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain) MADD 8567 genome.wustl.edu 37 11 47297571 47297571 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003682.3 +1 reviewed p.V261I 0.975 102 0% 168 43.5% - - benign(0) tolerated(0.25) neutral(0.037) HMMPfam_DENN,HMMSmart_SM00799 MYBPC3 4607 genome.wustl.edu 37 11 47354442 47354442 + Missense_Mutation SNP C C T rs187705120 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000256.3 -1 reviewed p.R1138H 1.000 52 0% 84 31% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like MYBPC3 4607 genome.wustl.edu 37 11 47360227 47360227 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000256.3 -1 reviewed p.L718M 1.000 23 0% 52 40.4% - - possibly_damaging(0.832) tolerated(0.06) deleterious(0.639) HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726 PSMC3 5702 genome.wustl.edu 37 11 47440467 47440467 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002804.4 -1 reviewed p.T413 0.006 237 0% 393 32.6% - - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases AGBL2 79841 genome.wustl.edu 37 11 47701590 47701590 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024783.2 -1 validated p.L651M 1.000 100 0% 70 44.3% - - benign(0.362) deleterious(0.01) deleterious(0.521) HMMPfam_Peptidase_M14,superfamily_Zn-dependent exopeptidases PTPRJ 5795 genome.wustl.edu 37 11 48161067 48161067 + Missense_Mutation SNP G G A rs181029182 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002843.3 +1 reviewed p.E728K 0.009 74 0% 41 39% - - possibly_damaging(0.748) tolerated(0.36) neutral(0.295) HMMSmart_FN3 OR4C2P 119750 genome.wustl.edu 37 11 48442266 48442266 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000428162 +1 known p.Q157H 0.784 77 0% 20 50% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 LOC340970 340970 genome.wustl.edu 37 11 49010917 49010917 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002343062.1 -1 model p.V172M 0.183 133 0% 15 33.3% - - - - - NULL ENSG00000219061 0 genome.wustl.edu 37 11 49860156 49860156 + Nonsense_Mutation SNP G G A rs181095702 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000405176 -1 known p.Q147* 0.003 80 0% 22 45.5% - - - - - NULL OR4C12 283093 genome.wustl.edu 37 11 50003294 50003294 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005270.2 -1 validated p.F248L 0.000 152 0% 56 35.7% - - benign(0.008) deleterious(0) neutral(0.445) HMMPfam_7tm_1,superfamily_SSF81321 OR4A5 81318 genome.wustl.edu 37 11 51411536 51411536 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005272.3 -1 validated p.R287I 0.885 83 0% 24 16.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Family A G protein-coupled receptor-like ENSG00000166007 0 genome.wustl.edu 37 11 55059633 55059633 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000309470 -1 known p.F426C 0.022 180 0% 24 41.7% - - - - - HMMPfam_SPRY OR4A16 81327 genome.wustl.edu 37 11 55111485 55111485 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005274.1 +1 provisional p.T270I 0.000 310 0.3% 62 38.7% - - probably_damaging(0.995) deleterious(0.04) deleterious(0.806) HMMPfam_7tm_1,superfamily_SSF81321 OR4P4 81300 genome.wustl.edu 37 11 55406325 55406325 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001004124.1 +1 provisional p.V164 0.002 175 0% 48 43.8% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 ENSG00000186886 0 genome.wustl.edu 37 11 55493938 55493938 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000333984 +1 known p.E44 0.000 112 0% 38 36.8% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 SPRYD5 84767 genome.wustl.edu 37 11 55653066 55653066 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032681.3 +1 validated p.E54D 0.378 81 0% 18 27.8% - - benign(0.022) tolerated(0.6) neutral(0.005) HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_RING/U-box OR10AG1 282770 genome.wustl.edu 37 11 55735728 55735728 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005491.1 -1 provisional p.R71I 0.219 86 0% 35 42.9% - - probably_damaging(0.978) deleterious(0) deleterious(0.865) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR5F1 338674 genome.wustl.edu 37 11 55761349 55761349 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003697.1 -1 provisional p.F251 0.015 80 0% 32 40.6% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR5AS1 219447 genome.wustl.edu 37 11 55798036 55798036 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001001921.1 +1 provisional p.L48I 0.001 101 0% 28 28.6% - - probably_damaging(0.979) tolerated(0.05) deleterious(0.767) HMMPfam_7tm_1,superfamily_SSF81321 OR5AS1 219447 genome.wustl.edu 37 11 55798761 55798761 + Missense_Mutation SNP T T G rs61889974 byCluster;byFrequency;by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001001921.1 +1 provisional p.I289M 0.341 85 0% 44 34.1% - - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_7tm_1,superfamily_SSF81321 OR8H2 390151 genome.wustl.edu 37 11 55872622 55872622 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005200.1 +1 provisional p.I35T 0.147 341 0% 104 35.6% - - probably_damaging(0.963) deleterious(0.01) deleterious(0.811) superfamily_SSF81321 OR8H2 390151 genome.wustl.edu 37 11 55873241 55873241 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005200.1 +1 provisional p.C241 0.520 239 0% 64 29.7% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR8J3 81168 genome.wustl.edu 37 11 55904703 55904703 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001004064.1 -1 provisional p.F164L 0.005 253 0% 190 35.8% - - probably_damaging(0.998) tolerated(0.34) deleterious(0.497) HMMPfam_7tm_1,superfamily_SSF81321 OR8U1 219417 genome.wustl.edu 37 11 56143733 56143733 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005204.1 +1 provisional p.L212 0.000 266 0% 34 32.4% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR5AR1 219493 genome.wustl.edu 37 11 56431383 56431383 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001004730.1 +1 provisional p.S74 0.880 253 0% 73 43.8% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 LRRC55 219527 genome.wustl.edu 37 11 56954953 56954953 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005210.2 +1 validated p.*342 0.975 57 0% 63 33.3% - - - - - NULL SERPING1 710 genome.wustl.edu 37 11 57381994 57381994 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000062.2 +1 reviewed p.L481 1.000 35 0% 33 24.2% - - - - - HMMPfam_Serpin,HMMSmart_SERPIN,PatternScan_SERPIN,superfamily_Prot_inh_serpin BTBD18 643376 genome.wustl.edu 37 11 57512733 57512733 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001145101.1 -1 validated p.R338W 0.981 83 0% 128 46.9% - - benign(0) deleterious(0.03) neutral(0.364) NULL OR9Q1 219956 genome.wustl.edu 37 11 57947358 57947358 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005212.3 +1 validated p.A148T 0.974 136 0% 42 31% - - benign(0.015) tolerated(0.18) neutral(0.057) HMMPfam_7tm_1,superfamily_SSF81321 OR1S1 219959 genome.wustl.edu 37 11 57982610 57982610 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001004458.1 +1 validated p.A132T 1.000 322 0% 108 41.7% - - benign(0.024) deleterious(0) neutral(0.446) HMMPfam_7tm_1,superfamily_SSF81321 OR10Q1 219960 genome.wustl.edu 37 11 57995529 57995529 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001004471.2 -1 validated p.E273D 0.011 81 0% 84 33.3% - - benign(0.001) tolerated(0.55) neutral(0.007) HMMPfam_7tm_1,superfamily_SSF81321 OR10Q1 219960 genome.wustl.edu 37 11 57995561 57995561 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001004471.2 -1 validated p.V263M 0.923 56 0% 66 31.8% - - probably_damaging(0.996) tolerated(0.33) deleterious(0.486) HMMPfam_7tm_1,superfamily_SSF81321 OR5B12 390191 genome.wustl.edu 37 11 58207349 58207349 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001004733.2 -1 validated p.Y92 0.000 104 0% 44 31.8% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 LPXN 9404 genome.wustl.edu 37 11 58295078 58295078 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001143995.1 -1 reviewed p.T342N 0.997 65 0% 53 39.6% - - benign(0.129) tolerated(0.11) neutral(0.283) HMMPfam_LIM,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,superfamily_SSF57716 LPXN 9404 genome.wustl.edu 37 11 58317529 58317529 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001143995.1 -1 reviewed p.R198W 1.000 72 1.4% 17 29.4% - - possibly_damaging(0.812) tolerated(0.06) deleterious(0.628) HMMPfam_LIM,HMMSmart_LIM,superfamily_SSF57716 ZFP91 80829 genome.wustl.edu 37 11 58377331 58377331 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_053023.3 +1 reviewed p.D133 0.003 110 0% 28 50% - - - - - NULL FAM111B 374393 genome.wustl.edu 37 11 58893158 58893158 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198947.3 +1 validated p.F530L 0.012 55 0% 18 38.9% - - benign(0) tolerated(0.31) neutral(0.027) superfamily_Trypsin-like serine proteases MPEG1 219972 genome.wustl.edu 37 11 58980314 58980314 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001039396.1 -1 validated p.L9F 0.002 43 0% 21 19% - - benign(0.046) deleterious(0) neutral(0.447) NULL OR4D11 219986 genome.wustl.edu 37 11 59271392 59271392 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001004706.1 +1 provisional p.L115P 1.000 288 0% 127 37% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 OR4D9 390199 genome.wustl.edu 37 11 59282433 59282433 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001004711.1 +1 provisional p.G16 0.027 167 0% 56 39.3% - - - - - superfamily_SSF81321 PATL1 219988 genome.wustl.edu 37 11 59416982 59416982 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152716.2 -1 validated p.I562M 0.734 209 0% 189 40.2% - - possibly_damaging(0.942) deleterious(0.01) deleterious(0.792) HMMPfam_PAT1 OR10V1 390201 genome.wustl.edu 37 11 59480550 59480550 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005324.1 -1 provisional p.S257G 0.995 79 0% 43 14% - - probably_damaging(0.984) deleterious(0.02) deleterious(0.814) HMMPfam_7tm_1,superfamily_SSF81321 OR10V1 390201 genome.wustl.edu 37 11 59480977 59480977 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005324.1 -1 provisional p.V114 0.100 100 0% 41 22% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR10V1 390201 genome.wustl.edu 37 11 59481028 59481028 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005324.1 -1 provisional p.G97 0.671 82 0% 47 46.8% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 MS4A4E 643680 genome.wustl.edu 37 11 59976150 59976150 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_931886.3 -1 model p.V192 0.000 401 0% 231 14.3% - - - - - HMMPfam_CD20 MS4A7 58475 genome.wustl.edu 37 11 60160219 60160219 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021201.4 +1 reviewed p.S203F 0.007 243 0% 49 32.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CD20 MS4A14 84689 genome.wustl.edu 37 11 60183286 60183286 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032597.3 +1 validated p.A282V 0.002 81 0% 28 39.3% - - benign(0.02) tolerated(1) neutral(0.001) NULL MS4A13 503497 genome.wustl.edu 37 11 60296873 60296873 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001012417.2 +1 validated p.F114L 0.000 241 0% 233 37.8% - - possibly_damaging(0.478) tolerated(0.68) neutral(0.160) HMMPfam_CD20 MS4A8B 83661 genome.wustl.edu 37 11 60468341 60468341 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031457.1 +1 reviewed p.S3L 0.003 154 0% 66 30.3% - - benign(0.429) tolerated(0.08) neutral(0.440) NULL ZP1 22917 genome.wustl.edu 37 11 60640684 60640684 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_207341.2 +1 validated p.A388S 0.570 101 0% 111 28.8% - - possibly_damaging(0.87) deleterious(0.04) deleterious(0.687) HMMPfam_Zona_pellucida,HMMSmart_ZP PRPF19 27339 genome.wustl.edu 37 11 60665739 60665739 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014502.4 -1 validated p.R382H 1.000 45 0% 31 45.2% - - probably_damaging(0.988) deleterious(0.01) deleterious(0.843) HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 PRPF19 27339 genome.wustl.edu 37 11 60666025 60666025 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014502.4 -1 validated p.I376 1.000 79 0% 71 45.1% - - - - - HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 TMEM109 79073 genome.wustl.edu 37 11 60687345 60687345 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024092.2 +1 validated p.S60 0.005 73 0% 152 31.6% - - - - - NULL CD5 921 genome.wustl.edu 37 11 60889271 60889271 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014207.3 +1 validated p.A332T 0.000 39 0% 74 29.7% - - benign(0) tolerated(0.21) neutral(0.044) HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like CD5 921 genome.wustl.edu 37 11 60892537 60892537 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014207.3 +1 validated p.R438Q 1.000 100 0% 133 35.3% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL CD5 921 genome.wustl.edu 37 11 60893244 60893244 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014207.3 +1 validated p.R474H 0.000 58 0% 104 10.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL VPS37C 55048 genome.wustl.edu 37 11 60900808 60900808 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017966.4 -1 validated p.E89D 1.000 44 0% 51 35.3% - - benign(0.043) tolerated(1) neutral(0.003) HMMPfam_Mod_r DDB1 1642 genome.wustl.edu 37 11 61070063 61070063 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001923.3 -1 validated p.G1035S 1.000 93 0% 131 13% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CPSF_A DDB1 1642 genome.wustl.edu 37 11 61094352 61094352 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001923.3 -1 validated p.R188Q 1.000 78 0% 85 25.9% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL CYBASC3 220002 genome.wustl.edu 37 11 61121395 61121395 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153611.4 -1 validated p.A85V 0.001 92 0% 93 25.8% - - benign(0.004) tolerated(0.57) neutral(0.006) HMMPfam_Cytochrom_B561,HMMSmart_B561 TMEM138 51524 genome.wustl.edu 37 11 61133611 61133611 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016464.4 +1 validated p.F75V 0.953 298 0% 255 38% - - benign(0) tolerated(0.5) neutral(0.010) NULL PPP1R32 220004 genome.wustl.edu 37 11 61253293 61253293 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_145017.2 +1 validated p.I199 0.335 42 0% 60 48.3% - - - - - NULL SCGB1D4 404552 genome.wustl.edu 37 11 62065064 62065064 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_206998.1 -1 provisional p.A41V 0.000 123 0.8% 89 32.6% - - benign(0) tolerated(1) - superfamily_Uteroglobin-like AHNAK 79026 genome.wustl.edu 37 11 62289747 62289747 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001620.1 -1 validated p.D4048N 1.000 247 0% 156 30.8% - - probably_damaging(0.997) tolerated(0.17) deleterious(0.525) NULL AHNAK 79026 genome.wustl.edu 37 11 62296418 62296418 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001620.1 -1 validated p.A1824V 0.393 217 0% 220 40.5% - - benign(0) tolerated(0.8) neutral(0.001) NULL AHNAK 79026 genome.wustl.edu 37 11 62302487 62302487 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001620.1 -1 validated p.S110 0.466 23 0% 39 51.3% - - - - - NULL EEF1G 1937 genome.wustl.edu 37 11 62327559 62327559 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001404.4 -1 reviewed p.G379 1.000 84 0% 76 31.6% - - - - - HMMPfam_EF1G,superfamily_eEF1-gamma domain TUT1 64852 genome.wustl.edu 37 11 62346034 62346034 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022830.2 -1 reviewed p.R387W 1.000 47 0% 50 30% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Nucleotidyltransferase ROM1 6094 genome.wustl.edu 37 11 62381290 62381290 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000327.3 +1 reviewed p.G179 0.978 49 0% 104 43.3% - - - - - superfamily_Tetraspanin,HMMPfam_Tetraspannin CHRM1 1128 genome.wustl.edu 37 11 62677418 62677418 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000738.2 -1 reviewed p.V385 1.000 65 0% 70 32.9% - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like SLC22A9 114571 genome.wustl.edu 37 11 63138660 63138660 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_080866.2 +1 validated p.F152L 0.671 264 0% 62 33.9% - - benign(0.086) tolerated(0.05) neutral(0.352) HMMPfam_MFS_1,superfamily_MFS general substrate transporter HRASLS5 117245 genome.wustl.edu 37 11 63257803 63257803 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_054108.3 -1 validated p.E61* 0.883 125 0% 157 26.8% - - - - - NULL RTN3 10313 genome.wustl.edu 37 11 63488437 63488437 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_201428.1 +1 validated p.V802 0.862 37 0% 32 31.2% - - - - - NULL C11orf84 144097 genome.wustl.edu 37 11 63586309 63586309 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138471.1 +1 predicted p.A257T 0.901 76 0% 109 11.9% - - probably_damaging(0.959) deleterious(0) deleterious(0.847) NULL RCOR2 283248 genome.wustl.edu 37 11 63681556 63681556 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173587.3 -1 validated p.R254Q 0.985 49 0% 95 32.6% - - possibly_damaging(0.939) deleterious(0.01) deleterious(0.790) NULL FERMT3 83706 genome.wustl.edu 37 11 63987455 63987455 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178443.2 +1 reviewed p.P395H 0.038 33 0% 99 30.3% - - benign(0.091) tolerated(0.64) neutral(0.009) HMMPfam_PH,HMMSmart_SM00233,HMMPfam_FERM_M,HMMSmart_SM00295,superfamily_PH domain-like TRPT1 83707 genome.wustl.edu 37 11 63992292 63992292 + Missense_Mutation SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001033678.3 -1 validated p.N103I 0.998 40 0% 79 12.7% - - probably_damaging(0.956) deleterious(0.03) deleterious(0.764) HMMPfam_PTS_2-RNA KCNK4 50801 genome.wustl.edu 37 11 64065090 64065090 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033310.2 +1 reviewed p.T209M 1.000 72 0% 138 31.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans_2,superfamily_Voltage-gated potassium channels CCDC88B 283234 genome.wustl.edu 37 11 64121208 64121208 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000301897 +1 known p.A4V 0.180 46 0% 79 29.1% - - unknown(0) - - NULL CCDC88B 283234 genome.wustl.edu 37 11 64122780 64122780 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032251.5 +1 reviewed p.S1405N 0.914 17 0% 57 43.9% - - possibly_damaging(0.915) deleterious(0) deleterious(0.811) NULL NRXN2 9379 genome.wustl.edu 37 11 64435006 64435006 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015080.2 -1 reviewed p.A505V 0.680 37 0% 57 24.6% - - possibly_damaging(0.515) tolerated(0.51) neutral(0.182) superfamily_Concanavalin A-like lectins/glucanases PYGM 5837 genome.wustl.edu 37 11 64514146 64514146 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005609.2 -1 reviewed p.P838 0.749 93 0% 183 37.2% - - - - - NULL SF1 7536 genome.wustl.edu 37 11 64533057 64533057 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000422298 -1 known p.E591D 1.000 14 0% 48 31.2% - - - - - NULL MAP4K2 5871 genome.wustl.edu 37 11 64563988 64563988 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004579.2 -1 reviewed p.N537T 1.000 72 0% 124 36.3% - - benign(0.068) deleterious(0.02) neutral(0.388) HMMPfam_CNH,HMMSmart_CNH MEN1 4221 genome.wustl.edu 37 11 64575407 64575407 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000244.3 -1 reviewed p.E209K 1.000 40 0% 85 25.9% - - possibly_damaging(0.892) deleterious(0) deleterious(0.796) HMMPfam_Menin CDC42BPG 55561 genome.wustl.edu 37 11 64594813 64594813 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017525.2 -1 validated p.R1403H 1.000 46 0% 119 32.8% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL ATG2A 23130 genome.wustl.edu 37 11 64669629 64669629 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000418259 -1 known p.V1112I 1.000 58 0% 126 37.3% - - - - - NULL ATG2A 23130 genome.wustl.edu 37 11 64679717 64679717 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000418259 -1 known p.R111* 0.000 25 0% 84 40.5% - - - - - NULL PPP2R5B 5526 genome.wustl.edu 37 11 64695613 64695613 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006244.3 +1 reviewed p.Q192K 1.000 226 0% 411 34.3% - - benign(0.089) deleterious(0.01) neutral(0.412) HMMPfam_B56 GPHA2 170589 genome.wustl.edu 37 11 64702252 64702252 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_130769.3 -1 validated p.R128H 1.000 27 0% 57 14% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL NAALADL1 10004 genome.wustl.edu 37 11 64813875 64813875 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000427272 -1 known p.E575* 0.000 102 0% 197 39.1% - - - - - NULL ZFPL1 7542 genome.wustl.edu 37 11 64853916 64853916 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006782.3 +1 validated p.R82C 1.000 68 0% 129 49.6% - - probably_damaging(0.974) tolerated(0.17) deleterious(0.475) HMMSmart_RING LOC100287960 100287960 genome.wustl.edu 37 11 64913304 64913304 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002343095.1 -1 model p.K78T 1.000 51 0% 26 34.6% - - - - - HMMPfam_HIG_1_N CAPN1 823 genome.wustl.edu 37 11 64956206 64956206 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005186.2 +1 reviewed p.R385Q 1.000 27 0% 47 53.2% - - probably_damaging(0.996) tolerated(0.06) deleterious(0.784) HMMPfam_Calpain_III,HMMSmart_calpain_III,superfamily_Peptidase_C2 SLC22A20 440044 genome.wustl.edu 37 11 65009514 65009514 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000454680 +1 known p.S542Y 0.194 76 0% 103 48.5% - - - - - NULL CDC42EP2 10435 genome.wustl.edu 37 11 65088708 65088708 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006779.2 +1 reviewed p.I113 0.497 35 0% 72 34.7% - - - - - NULL EHBP1L1 254102 genome.wustl.edu 37 11 65351829 65351829 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001099409.1 +1 validated p.A1071T 1.000 46 0% 67 29.9% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_CH,HMMSmart_CH,superfamily_Calponin-homology KAT5 10524 genome.wustl.edu 37 11 65480932 65480932 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182710.1 +1 reviewed p.P166 1.000 44 0% 55 40% - - - - - NULL KAT5 10524 genome.wustl.edu 37 11 65481258 65481258 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182710.1 +1 reviewed p.R210H 1.000 99 0% 179 35.2% - - probably_damaging(0.995) tolerated(0.11) deleterious(0.729) NULL CATSPER1 117144 genome.wustl.edu 37 11 65788288 65788288 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_053054.3 -1 reviewed p.A641T 0.976 50 0% 68 39.7% - - benign(0.214) tolerated(0.48) neutral(0.032) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CATSPER1 117144 genome.wustl.edu 37 11 65793538 65793538 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_053054.3 -1 reviewed p.V105I 0.000 104 0% 148 42.6% - - benign(0.051) deleterious(0.01) neutral(0.409) NULL CATSPER1 117144 genome.wustl.edu 37 11 65793655 65793655 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_053054.3 -1 reviewed p.F66V 0.001 183 0% 237 34.6% - - probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL GAL3ST3 89792 genome.wustl.edu 37 11 65810563 65810563 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033036.2 -1 reviewed p.L237 0.556 6 0.000 12 0.500 - - - - - HMMPfam_Gal-3-0_sulfotr KLC2 64837 genome.wustl.edu 37 11 66029433 66029433 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001134775.1 +1 validated p.A150V 0.348 37 0% 70 31.4% - - benign(0) tolerated(0.29) neutral(0.029) HMMPfam_Rab5-bind B3GNT1 11041 genome.wustl.edu 37 11 66113999 66113999 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006876.2 -1 reviewed p.E340K 1.000 25 0% 47 40.4% - - probably_damaging(1) tolerated(0.09) deleterious(0.796) NULL LOC100128074 100128074 genome.wustl.edu 37 11 66114012 66114012 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_001716221.1 +1 model p.H83Y 1.000 24 0% 51 27.5% - - - - - NULL SLC29A2 3177 genome.wustl.edu 37 11 66133642 66133642 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001532.2 -1 validated p.A310T 1.000 79 0% 112 33% - - possibly_damaging(0.923) deleterious(0) deleterious(0.817) HMMPfam_Nucleoside_tran NPAS4 266743 genome.wustl.edu 37 11 66192630 66192630 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178864.3 +1 validated p.L757M 1.000 22 0% 53 28.3% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL PELI3 246330 genome.wustl.edu 37 11 66240744 66240744 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_145065.2 +1 validated p.F163 0.956 31 0% 59 42.4% - - - - - HMMPfam_Pellino BBS1 582 genome.wustl.edu 37 11 66290969 66290969 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024649.4 +1 reviewed p.Q291 1.000 79 0% 88 40.9% - - - - - NULL CCS 9973 genome.wustl.edu 37 11 66372982 66372982 + Missense_Mutation SNP G G C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005125.1 +1 reviewed p.S197T 1.000 123 0% 115 40.9% - - benign(0.283) tolerated(0.12) neutral(0.348) HMMPfam_Sod_Cu,superfamily_SOD_Cu_Zn RBM14 10432 genome.wustl.edu 37 11 66392337 66392337 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006328.3 +1 validated p.S330 1.000 57 0% 75 37.3% - - - - - NULL RBM14 10432 genome.wustl.edu 37 11 66393080 66393080 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006328.3 +1 validated p.R578H 1.000 23 0% 29 44.8% - - unknown(0) deleterious(0.01) - NULL RBM4B 83759 genome.wustl.edu 37 11 66444394 66444394 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031492.2 -1 provisional p.R53C 0.999 252 0% 297 12.1% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD SPTBN2 6712 genome.wustl.edu 37 11 66468602 66468602 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006946.2 -1 reviewed p.D990N 1.000 6 0.000 13 0.308 - - possibly_damaging(0.933) tolerated(0.07) deleterious(0.698) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SPTBN2 6712 genome.wustl.edu 37 11 66472362 66472362 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006946.2 -1 reviewed p.E795D 1.000 14 0% 29 41.4% - - possibly_damaging(0.851) tolerated(0.07) deleterious(0.646) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat PC 5091 genome.wustl.edu 37 11 66616434 66616434 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000920.3 -1 reviewed p.R1158H 0.997 27 0% 66 45.5% - - benign(0.173) deleterious(0.01) neutral(0.422) HMMPfam_Biotin_lipoyl,superfamily_Hybrid_motif PC 5091 genome.wustl.edu 37 11 66617918 66617918 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000920.3 -1 reviewed p.V831M 1.000 31 0% 83 47% - - probably_damaging(0.957) tolerated(0.18) neutral(0.457) superfamily_SSF51569 KDM2A 22992 genome.wustl.edu 37 11 67021049 67021049 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012308.2 +1 reviewed p.R1020W 1.000 70 0% 93 35.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00367,superfamily_RNI-like SSH3 54961 genome.wustl.edu 37 11 67076907 67076907 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017857.3 +1 validated p.N367 1.000 36 0% 96 32.3% - - - - - HMMPfam_DSPc,HMMSmart_SM00195,superfamily_(Phosphotyrosine protein) phosphatases II PITPNM1 9600 genome.wustl.edu 37 11 67263772 67263772 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004910.2 -1 validated p.A732T 0.998 31 0% 64 23.4% - - benign(0.206) deleterious(0.02) neutral(0.403) HMMPfam_DDHD PITPNM1 9600 genome.wustl.edu 37 11 67269425 67269425 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004910.2 -1 validated p.T183M 0.249 29 0% 81 34.6% - - possibly_damaging(0.909) tolerated(0.11) deleterious(0.633) HMMPfam_IP_trans,superfamily_Bet v1-like NDUFS8 4728 genome.wustl.edu 37 11 67803783 67803783 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002496.3 +1 reviewed p.D146N 1.000 25 0% 44 29.5% - - probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_Fer4,superfamily_alpha-helical ferredoxin TCIRG1 10312 genome.wustl.edu 37 11 67810906 67810906 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006019.2 +1 reviewed p.R191H 0.992 8 0.000 20 0.300 - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_V_ATPase_I LRP5 4041 genome.wustl.edu 37 11 68125316 68125316 + Splice_Site SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002335.2 +1 reviewed e3+1 1.000 37 0% 56 51.8% - - - - - - LRP5 4041 genome.wustl.edu 37 11 68213918 68213918 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002335.2 +1 reviewed p.P1501 0.995 42 0% 105 41% - - - - - NULL CPT1A 1374 genome.wustl.edu 37 11 68549297 68549297 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001876.3 -1 reviewed p.P432S 1.000 232 0% 313 38% - - probably_damaging(0.986) deleterious(0.02) deleterious(0.818) HMMPfam_Carn_acyltransf,superfamily_CoA-dependent acyltransferases CPT1A 1374 genome.wustl.edu 37 11 68562300 68562300 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001876.3 -1 reviewed p.R284H 0.948 196 0% 228 39% - - benign(0.02) tolerated(0.13) neutral(0.254) HMMPfam_Carn_acyltransf,superfamily_CoA-dependent acyltransferases IGHMBP2 3508 genome.wustl.edu 37 11 68682403 68682403 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002180.2 +1 reviewed p.I275T 0.992 48 0% 95 30.5% - - benign(0.366) deleterious(0.01) deleterious(0.522) HMMSmart_SM00382,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases IGHMBP2 3508 genome.wustl.edu 37 11 68707091 68707091 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002180.2 +1 reviewed p.N958 0.891 15 0% 30 40% - - - - - NULL TPCN2 219931 genome.wustl.edu 37 11 68846006 68846006 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000356782 +1 known p.S373L 0.991 114 0% 192 30.2% - - unknown(0) deleterious(0) - NULL PPFIA1 8500 genome.wustl.edu 37 11 70208490 70208490 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003626.2 +1 reviewed p.R921C 1.000 54 0% 47 38.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SAM_1,HMMSmart_SM00454,superfamily_SAM/Pointed domain SHANK2 22941 genome.wustl.edu 37 11 70507760 70507760 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012309.3 -1 reviewed p.T38M 1.000 105 0% 178 12.9% - - possibly_damaging(0.947) deleterious(0) deleterious(0.835) HMMPfam_PDZ,superfamily_PDZ INPPL1 3636 genome.wustl.edu 37 11 71944788 71944788 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001567.3 +1 reviewed p.G738R 1.000 285 0% 416 32.9% - - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) superfamily_Exo_endo_phos PDE2A 5138 genome.wustl.edu 37 11 72290049 72290049 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002599.3 -1 validated p.G787 0.993 199 0% 258 37.6% - - - - - HMMPfam_PDEase_I,HMMSmart_SM00471,superfamily_HD-domain/PDEase-like ARAP1 116985 genome.wustl.edu 37 11 72421008 72421008 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001040118.2 -1 reviewed p.G477D 1.000 102 0% 152 36.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00233,superfamily_PH domain-like ARAP1 116985 genome.wustl.edu 37 11 72438077 72438077 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001040118.2 -1 reviewed p.V33M 0.987 11 0% 21 42.9% - - benign(0.085) tolerated(0.14) neutral(0.256) HMMPfam_SAM_1,HMMSmart_SM00454,superfamily_SAM/Pointed domain ATG16L2 89849 genome.wustl.edu 37 11 72538271 72538271 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033388.1 +1 validated p.V469M 0.994 91 0% 143 38.5% - - benign(0.358) tolerated(0.14) neutral(0.363) HMMSmart_SM00320,superfamily_WD40 repeat-like P2RY2 5029 genome.wustl.edu 37 11 72945825 72945825 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002564.2 +1 reviewed p.F207 0.375 51 0% 89 37.1% - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ARHGEF17 9828 genome.wustl.edu 37 11 73066666 73066666 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014786.3 +1 validated p.A1181V 1.000 124 0.8% 210 37.1% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) P4HA3 283208 genome.wustl.edu 37 11 74013466 74013466 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182904.3 -1 reviewed p.S172I 0.977 65 0% 42 11.9% - - benign(0.055) deleterious(0.02) neutral(0.387) superfamily_TPR-like NEU3 10825 genome.wustl.edu 37 11 74716544 74716544 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006656.5 +1 reviewed p.G131 0.000 90 0% 58 32.8% - - - - - superfamily_Sialidase RPS3 6188 genome.wustl.edu 37 11 75113455 75113455 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005.3 +1 reviewed p.L105 1.000 93 0% 126 38.9% - - possibly_damaging(0.93) tolerated(0.27) neutral(0.410) HMMPfam_Ribosomal_S3_C,superfamily_Ribosomal protein S3 C-terminal domain GDPD5 81544 genome.wustl.edu 37 11 75155523 75155523 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030792.6 -1 validated p.T244 0.021 45 0% 73 28.8% - - - - - HMMPfam_GDPD,superfamily_PLC-like phosphodiesterases SERPINH1 871 genome.wustl.edu 37 11 75280204 75280204 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001235.2 +1 reviewed p.T314 1.000 53 0% 91 11% - - - - - HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins WNT11 7481 genome.wustl.edu 37 11 75917396 75917396 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004626.2 -1 reviewed p.T19I 1.000 4 0.000 9 0.556 - - benign(0.024) tolerated(0.49) neutral(0.011) NULL LRRC32 2615 genome.wustl.edu 37 11 76370835 76370835 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001128922.1 -1 reviewed p.R601H 0.659 44 0% 67 29.9% - - benign(0.002) tolerated(0.48) neutral(0.011) superfamily_SSF52058 OMP 4975 genome.wustl.edu 37 11 76814239 76814239 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006189.1 +1 reviewed p.N118 0.814 26 0% 57 35.1% - - - - - HMMPfam_Olfactory_mark,superfamily_Olfactory_marker MYO7A 4647 genome.wustl.edu 37 11 76871246 76871246 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000260.3 +1 reviewed p.R373H 1.000 25 0% 41 19.5% - - benign(0.108) tolerated(0.14) neutral(0.258) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO7A 4647 genome.wustl.edu 37 11 76901861 76901861 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000260.3 +1 reviewed p.K1290N 1.000 44 0% 82 28% - - possibly_damaging(0.756) tolerated(0.12) deleterious(0.540) HMMPfam_FERM_N,HMMSmart_SM00295 MYO7A 4647 genome.wustl.edu 37 11 76917166 76917166 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000260.3 +1 reviewed p.P1887 0.289 61 0% 118 33.1% - - - - - HMMPfam_MyTH4,HMMSmart_SM00139 CLNS1A 1207 genome.wustl.edu 37 11 77336089 77336089 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001293.2 -1 reviewed p.E131K 1.000 136 0% 75 29.3% - - benign(0.001) tolerated(0.68) neutral(0.002) NULL RSF1 51773 genome.wustl.edu 37 11 77378483 77378483 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016578.3 -1 validated p.R1269W 0.993 57 0% 40 50% - - probably_damaging(0.976) deleterious(0) deleterious(0.863) NULL C11orf67 28971 genome.wustl.edu 37 11 77553600 77553600 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024684.2 +1 predicted p.N20D 0.953 88 0% 45 44.4% - - benign(0) tolerated(0.66) neutral(0.003) HMMPfam_DUF498,superfamily_Hypothetical protein MT938 (MTH938) ALG8 79053 genome.wustl.edu 37 11 77850596 77850596 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024079.4 -1 reviewed p.W13* 0.998 19 0% 41 22% - - - - - NULL ODZ4 26011 genome.wustl.edu 37 11 78381156 78381156 + Silent SNP G G A rs139879711 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001098816.2 -1 validated p.N2078 0.202 89 0% 104 39.4% - - - - - NULL ODZ4 26011 genome.wustl.edu 37 11 78413137 78413137 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001098816.2 -1 validated p.A1507 0.774 112 0% 61 41% - - - - - superfamily_SSF101898,superfamily_TolB_C ODZ4 26011 genome.wustl.edu 37 11 78433937 78433937 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001098816.2 -1 validated p.E1192D 1.000 65 0% 51 37.3% - - probably_damaging(0.995) tolerated(0.07) deleterious(0.776) NULL ODZ4 26011 genome.wustl.edu 37 11 78443525 78443525 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001098816.2 -1 validated p.R992C 1.000 113 0% 72 25% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL ODZ4 26011 genome.wustl.edu 37 11 78523252 78523252 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001098816.2 -1 validated p.I631 0.968 65 0% 36 38.9% - - - - - HMMSmart_EGF,HMMPfam_EGF_2,superfamily_SSF57196 ODZ4 26011 genome.wustl.edu 37 11 78614562 78614562 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001098816.2 -1 validated p.P167L 0.994 24 0% 46 37% - - benign(0.079) tolerated(0.11) neutral(0.277) HMMPfam_Ten_N ANKRD42 338699 genome.wustl.edu 37 11 82936081 82936081 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182603.2 +1 validated p.D229 0.000 153 0% 66 27.3% - - - - - superfamily_Ankyrin repeat ANKRD42 338699 genome.wustl.edu 37 11 82951967 82951967 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182603.2 +1 validated p.D368Y 1.000 161 0% 86 11.6% - - possibly_damaging(0.929) tolerated(0.07) deleterious(0.695) NULL SYTL2 54843 genome.wustl.edu 37 11 85416014 85416014 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_206927.2 -1 reviewed p.R1059W 1.000 297 0% 135 34.1% - - possibly_damaging(0.95) tolerated(0.15) deleterious(0.635) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) PICALM 8301 genome.wustl.edu 37 11 85712096 85712096 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007166.2 -1 validated p.A333 0.993 378 0% 147 30.6% - - - - - NULL PRSS23 11098 genome.wustl.edu 37 11 86518778 86518778 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007173.4 +1 validated p.T31 0.004 166 0% 123 35% - - - - - NULL TMEM135 65084 genome.wustl.edu 37 11 86749176 86749176 + Missense_Mutation SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022918.3 +1 validated p.I30N 1.000 39 0% 98 34.7% - - possibly_damaging(0.816) deleterious(0) deleterious(0.753) NULL GRM5 2915 genome.wustl.edu 37 11 88258556 88258556 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001143831.2 -1 reviewed p.L883 1.000 162 0% 61 31.1% - - - - - NULL TYR 7299 genome.wustl.edu 37 11 88924505 88924505 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000372.4 +1 reviewed p.E319* 1.000 96 0% 24 37.5% - - - - - HMMPfam_Tyrosinase,superfamily_Di-copper centre-containing domain TYR 7299 genome.wustl.edu 37 11 89018099 89018099 + Missense_Mutation SNP A A T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000372.4 +1 reviewed p.D448V 1.000 64 0% 11 45.5% - - benign(0.108) tolerated(0.22) neutral(0.051) superfamily_Di-copper centre-containing domain NOX4 50507 genome.wustl.edu 37 11 89059869 89059869 + RNA SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NR_026571.1 -1 reviewed NULL 0.992 114 0% 44 31.8% - - - - - - ENSG00000234376 0 genome.wustl.edu 37 11 89486920 89486920 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000411859 -1 known p.T72I 0.063 324 0% 158 28.5% - - - - - NULL ENSG00000204456 0 genome.wustl.edu 37 11 89501364 89501364 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000375974 -1 known p.H39Q 0.001 75 0% 37 24.3% - - - - - NULL TRIM64B 642446 genome.wustl.edu 37 11 89604290 89604290 + Splice_Site SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000436168 -1 known e9-1 0.001 99 0% 73 26% - - - - - - ENSG00000204449 0 genome.wustl.edu 37 11 89806118 89806118 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000432771 +1 known p.G301R 0.000 184 0% 71 15.5% - - benign(0) tolerated(0.81) neutral(0.001) NULL CHORDC1 26973 genome.wustl.edu 37 11 89938724 89938724 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012124.2 -1 validated p.Y191* 0.997 79 0% 33 39.4% - - - - - HMMPfam_CHORD CHORDC1 26973 genome.wustl.edu 37 11 89951314 89951314 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012124.2 -1 validated p.D35N 1.000 125 0% 70 28.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CHORD ENSG00000214391 0 genome.wustl.edu 37 11 90016597 90016597 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000318973 +1 known p.L258 0.998 326 0% 151 31.8% - - - - - superfamily_Tub_FtsZ_C,HMMPfam_Tubulin_C ENSG00000214391 0 genome.wustl.edu 37 11 90016974 90016974 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000318973 +1 known p.A375T 1.000 195 0% 91 27.5% - - - - - superfamily_Tub_FtsZ_C,HMMPfam_Tubulin_C FAT3 120114 genome.wustl.edu 37 11 92087083 92087083 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001008781.2 +1 validated p.A602V 1.000 75 0% 15 66.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT3 120114 genome.wustl.edu 37 11 92087515 92087515 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001008781.2 +1 validated p.L746P 1.000 95 0% 16 25% - - possibly_damaging(0.893) tolerated(0.07) deleterious(0.671) HMMPfam_Cadherin,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT3 120114 genome.wustl.edu 37 11 92532904 92532904 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001008781.2 +1 validated p.V2242G 1.000 143 0% 33 24.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT3 120114 genome.wustl.edu 37 11 92616097 92616097 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001008781.2 +1 validated p.A4159T 1.000 76 0% 135 40% - - probably_damaging(0.998) tolerated(0.05) deleterious(0.820) NULL FAT3 120114 genome.wustl.edu 37 11 92616259 92616259 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001008781.2 +1 validated p.R4213C 0.981 27 0% 39 43.6% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL SLC36A4 120103 genome.wustl.edu 37 11 92881964 92881964 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152313.2 -1 provisional p.F418 0.426 44 0% 13 30.8% - - - - - HMMPfam_Aa_trans CCDC67 159989 genome.wustl.edu 37 11 93097388 93097388 + Silent SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_181645.3 +1 validated p.V120 0.038 109 0% 45 22.2% - - - - - NULL C11orf75 56935 genome.wustl.edu 37 11 93212330 93212330 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020179.2 -1 validated p.K9R 1.000 149 0% 157 29.9% - - unknown(0) - - NULL KIAA1731 85459 genome.wustl.edu 37 11 93417234 93417234 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033395.1 +1 validated p.L352V 0.000 88 0% 39 30.8% - - possibly_damaging(0.875) tolerated(0.12) deleterious(0.601) NULL KIAA1731 85459 genome.wustl.edu 37 11 93460414 93460414 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033395.1 +1 validated p.P2258S 0.908 107 0% 35 37.1% - - possibly_damaging(0.948) deleterious(0) deleterious(0.836) NULL MED17 9440 genome.wustl.edu 37 11 93523750 93523750 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004268.4 +1 reviewed p.T143M 0.982 64 0% 51 35.3% - - benign(0) tolerated(0.33) neutral(0.024) HMMPfam_DUF2364 GPR83 10888 genome.wustl.edu 37 11 94113863 94113863 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016540.3 -1 validated p.A242T 0.998 152 0% 79 10.1% - - benign(0.004) tolerated(0.35) neutral(0.021) HMMPfam_7tm_1,superfamily_SSF81321 AMOTL1 154810 genome.wustl.edu 37 11 94592756 94592756 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_130847.2 +1 reviewed p.R671W 0.987 98 0% 70 11.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL KDM4D 55693 genome.wustl.edu 37 11 94731584 94731584 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018039.2 +1 validated p.P350S 0.094 30 0% 28 32.1% - - benign(0.075) deleterious(0.05) neutral(0.350) NULL KDM4DL 390245 genome.wustl.edu 37 11 94760216 94760216 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000450979 +1 known p.D499Y 0.000 73 0% 53 49.1% - - benign(0.029) deleterious(0.01) neutral(0.407) NULL MAML2 84441 genome.wustl.edu 37 11 95825380 95825380 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032427.1 -1 validated p.Q605 0.006 201 12.4% 144 22.2% - - - - - NULL CCDC82 79780 genome.wustl.edu 37 11 96104238 96104238 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024725.3 -1 validated p.R383H 0.976 145 0% 56 32.1% - - possibly_damaging(0.522) deleterious(0.01) deleterious(0.582) NULL CCDC82 79780 genome.wustl.edu 37 11 96117179 96117179 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024725.3 -1 validated p.E245* 0.993 182 0% 122 38.5% - - - - - NULL PGR 5241 genome.wustl.edu 37 11 100920786 100920786 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000926.4 -1 reviewed p.R788W 1.000 94 0% 26 34.6% - - possibly_damaging(0.78) deleterious(0) deleterious(0.736) HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain PGR 5241 genome.wustl.edu 37 11 100999720 100999720 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000926.4 -1 reviewed p.L28 0.000 4 0.000 19 0.368 - - - - - HMMPfam_Prog_receptor ANGPTL5 253935 genome.wustl.edu 37 11 101776492 101776492 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178127.4 -1 validated p.D110N 1.000 231 0% 161 37.3% - - probably_damaging(0.998) tolerated(0.23) deleterious(0.516) NULL C11orf70 85016 genome.wustl.edu 37 11 101953880 101953880 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032930.1 +1 predicted p.R214C 0.995 134 0% 117 31.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL BIRC3 330 genome.wustl.edu 37 11 102206702 102206702 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001165.3 +1 reviewed p.L444V 0.484 85 0% 28 46.4% - - benign(0.011) tolerated(0.25) neutral(0.037) HMMPfam_CARD,HMMSmart_CARD,superfamily_DEATH_like,superfamily_SSF57924 MMP10 4319 genome.wustl.edu 37 11 102647027 102647027 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002425.2 -1 reviewed p.L306M 0.008 85 0% 30 33.3% - - benign(0.184) tolerated(0.96) neutral(0.017) superfamily_Hemopexin-like domain,HMMPfam_Hemopexin,HMMSmart_SM00120 DYNC2H1 79659 genome.wustl.edu 37 11 102986001 102986001 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080463.1 +1 reviewed p.E200* 1.000 120 0% 81 32.1% - - - - - HMMPfam_DHC_N1 DYNC2H1 79659 genome.wustl.edu 37 11 103068673 103068673 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080463.1 +1 reviewed p.V2574I 1.000 132 0% 33 36.4% - - possibly_damaging(0.546) tolerated(0.33) neutral(0.209) NULL CASP4 837 genome.wustl.edu 37 11 104815537 104815537 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001225.3 -1 reviewed p.M359I 1.000 252 0% 58 39.7% - - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_Peptidase_C14,HMMSmart_SM00115,superfamily_Caspase-like CASP1 834 genome.wustl.edu 37 11 104900592 104900592 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033292.2 -1 reviewed p.R221H 0.138 60 0% 32 28.1% - - benign(0.003) tolerated(0.22) neutral(0.042) HMMPfam_Peptidase_C14,HMMSmart_SM00115,superfamily_Caspase-like GRIA4 2893 genome.wustl.edu 37 11 105483017 105483017 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000829.3 +1 reviewed p.R35* 1.000 134 0% 131 45% - - - - - superfamily_SSF53822 MSANTD4 84437 genome.wustl.edu 37 11 105880390 105880390 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032424.1 -1 validated p.R304C 1.000 185 0% 86 40.7% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL KBTBD3 143879 genome.wustl.edu 37 11 105924395 105924395 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152433.3 -1 validated p.G341R 1.000 109 0% 37 32.4% - - probably_damaging(0.99) tolerated(0.16) deleterious(0.501) HMMPfam_Kelch_1,superfamily_Galactose oxidase central domain KBTBD3 143879 genome.wustl.edu 37 11 105924472 105924472 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152433.3 -1 validated p.N315S 1.000 97 0% 34 26.5% - - possibly_damaging(0.49) tolerated(0.1) neutral(0.450) superfamily_Galactose oxidase central domain AASDHPPT 60496 genome.wustl.edu 37 11 105950229 105950229 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015423.2 +1 reviewed p.E73D 1.000 86 0% 92 30.4% - - benign(0.006) tolerated(0.33) neutral(0.024) superfamily_4-PPT_transf AASDHPPT 60496 genome.wustl.edu 37 11 105961323 105961323 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015423.2 +1 reviewed p.R150I 1.000 138 0% 44 31.8% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_ACPS,superfamily_4-PPT_transf GUCY1A2 2977 genome.wustl.edu 37 11 106849411 106849411 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000855.1 -1 validated p.D141Y 1.000 231 0% 81 33.3% - - probably_damaging(0.981) deleterious(0.01) deleterious(0.831) HMMPfam_HNOB CWF19L2 143884 genome.wustl.edu 37 11 107219754 107219754 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152434.2 -1 validated p.R704Q 0.001 136 0% 22 45.5% - - benign(0.004) tolerated(0.53) neutral(0.007) HMMPfam_CwfJ_C_1 ALKBH8 91801 genome.wustl.edu 37 11 107381672 107381672 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138775.2 -1 validated p.R460C 0.992 131 0% 27 51.9% - - benign(0.094) deleterious(0.03) neutral(0.371) HMMPfam_Methyltransf_11,superfamily_S-adenosyl-L-methionine-dependent methyltransferases ALKBH8 91801 genome.wustl.edu 37 11 107403051 107403051 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138775.2 -1 validated p.E285K 1.000 89 0% 27 22.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_2OG-FeII_Oxy CUL5 8065 genome.wustl.edu 37 11 107925642 107925642 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003478.3 +1 validated p.R247H 1.000 109 0% 53 32.1% - - possibly_damaging(0.94) deleterious(0.01) deleterious(0.790) HMMPfam_Cullin,superfamily_Cullin repeat ZC3H12C 85463 genome.wustl.edu 37 11 110007838 110007838 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033390.1 +1 validated p.V158M 1.000 105 0% 25 36% - - probably_damaging(0.959) deleterious(0.02) deleterious(0.786) NULL ARHGAP20 57569 genome.wustl.edu 37 11 110450584 110450584 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020809.2 -1 validated p.S1029Y 0.937 87 0% 25 40% - - possibly_damaging(0.509) deleterious(0) deleterious(0.615) NULL ARHGAP20 57569 genome.wustl.edu 37 11 110450885 110450885 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020809.2 -1 validated p.L929I 0.022 158 0% 68 33.8% - - benign(0) tolerated(0.29) neutral(0.029) NULL BTG4 54766 genome.wustl.edu 37 11 111369479 111369479 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017589.2 -1 reviewed p.T8I 1.000 146 0% 77 41.6% - - possibly_damaging(0.906) deleterious(0.01) deleterious(0.765) HMMPfam_BTG,HMMSmart_btg1 SIK2 23235 genome.wustl.edu 37 11 111594310 111594310 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015191.1 +1 validated p.Q746 0.026 52 0% 69 47.8% - - - - - superfamily_Protein kinase-like (PK-like) ALG9 79796 genome.wustl.edu 37 11 111739436 111739436 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024740.2 -1 reviewed p.E98D 0.968 92 1.1% 112 36.6% - - benign(0.005) tolerated(0.28) neutral(0.032) HMMPfam_Glyco_transf_22 PIH1D2 120379 genome.wustl.edu 37 11 111941968 111941968 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138789.3 -1 validated p.V114A 1.000 202 0% 119 34.5% - - probably_damaging(0.994) tolerated(0.08) deleterious(0.752) HMMPfam_PIH1 C11orf34 349633 genome.wustl.edu 37 11 112131151 112131151 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001145024.1 -1 provisional p.Y54 0.000 240 0% 126 39.7% - - - - - NULL NCAM1 4684 genome.wustl.edu 37 11 113075180 113075180 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_181351.3 +1 validated p.G100 0.238 87 0% 120 39.2% - - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin ANKK1 255239 genome.wustl.edu 37 11 113268719 113268719 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178510.1 +1 reviewed p.S325R 0.327 58 0% 84 33.3% - - benign(0.054) tolerated(0.05) neutral(0.349) NULL DRD2 1813 genome.wustl.edu 37 11 113295287 113295287 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000795.3 -1 reviewed p.A29 0.007 110 0% 98 30.6% - - - - - superfamily_Family A G protein-coupled receptor-like TMPRSS5 80975 genome.wustl.edu 37 11 113570822 113570822 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030770.2 -1 reviewed p.I24 0.101 24 0% 42 47.6% - - - - - NULL LOC390251 390251 genome.wustl.edu 37 11 113660051 113660051 + RNA SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XR_016610.3 +1 model NULL 0.998 71 0% 103 38.8% - - - - - - USP28 57646 genome.wustl.edu 37 11 113672387 113672387 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020886.2 -1 validated p.K959R 0.979 112 0% 72 11.1% - - benign(0.178) tolerated(0.57) neutral(0.022) PatternScan_CPSASE_2 USP28 57646 genome.wustl.edu 37 11 113684625 113684625 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020886.2 -1 validated p.C575 0.627 131 0% 49 32.7% - - - - - HMMPfam_UCH,superfamily_Cysteine proteinases HTR3B 9177 genome.wustl.edu 37 11 113815477 113815477 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006028.3 +1 reviewed p.E364* 1.000 132 0% 72 9.7% - - - - - HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore HTR3A 3359 genome.wustl.edu 37 11 113848493 113848493 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_213621.3 +1 reviewed p.A23V 0.696 39 0% 59 45.8% - - benign(0) tolerated(0.12) neutral(0.261) NULL HTR3A 3359 genome.wustl.edu 37 11 113853876 113853876 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_213621.3 +1 reviewed p.V137M 1.000 89 0% 93 25.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD HTR3A 3359 genome.wustl.edu 37 11 113860284 113860284 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_213621.3 +1 reviewed p.S444 0.001 20 0% 30 43.3% - - - - - HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM REXO2 25996 genome.wustl.edu 37 11 114320615 114320615 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015523.3 +1 validated p.R211Q 1.000 172 0% 123 39.8% - - possibly_damaging(0.915) deleterious(0.02) deleterious(0.750) HMMSmart_SM00479,superfamily_Ribonuclease H-like FAM55A 120400 genome.wustl.edu 37 11 114401502 114401502 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000424269 -1 known p.I76 0.240 503 0% 191 38.2% - - - - - NULL ZNF259 8882 genome.wustl.edu 37 11 116649757 116649757 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003904.3 -1 provisional p.D422Y 0.931 44 0% 83 37.3% - - probably_damaging(0.961) deleterious(0.01) deleterious(0.810) NULL SIK3 23387 genome.wustl.edu 37 11 116719845 116719845 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000445177 -1 known p.R1264* 0.972 91 0% 74 35.1% - - - - - NULL SIK3 23387 genome.wustl.edu 37 11 116767020 116767020 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025164.3 -1 validated p.R214W 1.000 63 0% 45 40% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SIDT2 51092 genome.wustl.edu 37 11 117060922 117060922 + Missense_Mutation SNP C C G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001040455.1 +1 validated p.L512V 1.000 113 0% 212 36.3% - - probably_damaging(0.983) deleterious(0.01) deleterious(0.835) NULL SIDT2 51092 genome.wustl.edu 37 11 117066549 117066549 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001040455.1 +1 validated p.R785Q 0.996 137 0% 201 35.8% - - possibly_damaging(0.827) tolerated(0.5) neutral(0.324) NULL PCSK7 9159 genome.wustl.edu 37 11 117079682 117079682 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004716.2 -1 reviewed p.S541N 1.000 78 0% 58 19% - - benign(0.003) tolerated(0.31) neutral(0.027) HMMPfam_P_proprotein,superfamily_Gal_bind_like RNF214 257160 genome.wustl.edu 37 11 117117545 117117545 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001077239.1 +1 validated p.Q280H 1.000 425 0.2% 429 37.5% - - probably_damaging(0.995) tolerated(0.05) deleterious(0.803) NULL CEP164 22897 genome.wustl.edu 37 11 117246502 117246502 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014956.4 +1 validated p.R438W 0.003 195 0% 209 38.8% - - benign(0) deleterious(0.05) neutral(0.345) NULL DSCAML1 57453 genome.wustl.edu 37 11 117403236 117403236 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020693.2 -1 provisional p.E231 1.000 88 0% 80 43.8% - - - - - HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin FXYD2 486 genome.wustl.edu 37 11 117693375 117693375 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001127489.1 -1 reviewed p.R28H 0.000 37 0% 65 18.5% - - benign(0.007) deleterious(0) neutral(0.445) NULL MPZL2 10205 genome.wustl.edu 37 11 118130877 118130877 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005797.3 -1 reviewed p.G159D 1.000 143 0% 48 29.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL UBE4A 9354 genome.wustl.edu 37 11 118240247 118240247 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004788.2 +1 reviewed p.E135D 1.000 136 0% 55 41.8% - - benign(0.021) tolerated(0.27) neutral(0.035) NULL UBE4A 9354 genome.wustl.edu 37 11 118255636 118255636 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004788.2 +1 reviewed p.I803 1.000 89 0% 38 28.9% - - - - - HMMPfam_Ufd2P_core MLL 4297 genome.wustl.edu 37 11 118343093 118343093 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005933.2 +1 validated p.R407* 0.989 51 0% 27 22.2% - - - - - NULL MLL 4297 genome.wustl.edu 37 11 118348802 118348802 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005933.2 +1 validated p.S1152L 1.000 131 0% 81 28.4% - - possibly_damaging(0.662) - - HMMPfam_zf-CXXC DDX6 1656 genome.wustl.edu 37 11 118625472 118625472 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004397.4 -1 reviewed p.S467 1.000 185 0% 75 32% - - - - - superfamily_SSF52540 BCL9L 283149 genome.wustl.edu 37 11 118769552 118769552 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182557.2 -1 validated p.H1358Y 1.000 78 0% 106 25.5% - - probably_damaging(0.959) tolerated(0.09) deleterious(0.699) NULL CCDC84 338657 genome.wustl.edu 37 11 118885778 118885778 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198489.1 +1 provisional p.E264K 1.000 68 0% 73 39.7% - - benign(0.076) tolerated(0.17) neutral(0.065) NULL SLC37A4 2542 genome.wustl.edu 37 11 118899957 118899957 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000330775 -1 known p.E41 1.000 114 0% 166 34.9% - - - - - HMMPfam_MFS_1,superfamily_MFS general substrate transporter HYOU1 10525 genome.wustl.edu 37 11 118917457 118917457 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001130991.1 -1 reviewed p.V885M 0.975 94 0% 100 39% - - probably_damaging(0.971) tolerated(0.12) deleterious(0.673) superfamily_Heat shock protein 70kD (HSP70) C-terminal subdomain HYOU1 10525 genome.wustl.edu 37 11 118920308 118920308 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001130991.1 -1 reviewed p.T589I 0.005 115 0% 143 27.3% - - benign(0.026) tolerated(0.09) neutral(0.297) NULL HINFP 25988 genome.wustl.edu 37 11 119003930 119003930 + Splice_Site SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015517.3 +1 validated e8+1 1.000 62 0% 83 34.9% - - - - - - HINFP 25988 genome.wustl.edu 37 11 119004865 119004865 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015517.3 +1 validated p.Q404R 1.000 46 0% 21 66.7% - - probably_damaging(0.965) deleterious(0.02) deleterious(0.790) NULL CBL 867 genome.wustl.edu 37 11 119142558 119142558 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005188.2 +1 reviewed p.A186V 1.000 79 0% 70 10% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cbl_N2,superfamily_SSF47473 CBL 867 genome.wustl.edu 37 11 119155929 119155929 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005188.2 +1 reviewed p.P532S 1.000 162 0% 107 36.4% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL TRIM29 23650 genome.wustl.edu 37 11 119998143 119998143 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012101.3 -1 reviewed p.V345 1.000 71 0% 114 24.6% - - - - - NULL TMEM136 219902 genome.wustl.edu 37 11 120198260 120198260 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_174926.1 +1 provisional p.R59H 1.000 175 0.6% 253 32.8% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_TRAM_LAG1_CLN8 TMEM136 219902 genome.wustl.edu 37 11 120198304 120198304 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_174926.1 +1 provisional p.A74T 1.000 155 0% 208 36.5% - - probably_damaging(0.959) tolerated(0.08) deleterious(0.703) HMMPfam_TRAM_LAG1_CLN8 TMEM136 219902 genome.wustl.edu 37 11 120200847 120200847 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000375095 +1 known p.E121K 1.000 145 0% 158 44.3% - - benign(0.01) tolerated(1) neutral(0.001) HMMPfam_TRAM_LAG1_CLN8,HMMSmart_SM00724 ARHGEF12 23365 genome.wustl.edu 37 11 120312812 120312812 + Splice_Site SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015313.1 +1 reviewed e15-1 1.000 259 0% 129 33.3% - - - - - - ARHGEF12 23365 genome.wustl.edu 37 11 120345332 120345332 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015313.1 +1 reviewed p.D1033Y 1.000 394 0% 234 35% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMSmart_SM00233,superfamily_PH domain-like ARHGEF12 23365 genome.wustl.edu 37 11 120348157 120348157 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015313.1 +1 reviewed p.G1152R 1.000 105 0% 49 40.8% - - possibly_damaging(0.712) tolerated(0.16) neutral(0.317) NULL TECTA 7007 genome.wustl.edu 37 11 121028741 121028741 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005422.2 +1 reviewed p.D1499 0.709 30 3.3% 61 31.1% - - - - - HMMPfam_VWD,HMMSmart_SM00216 SORL1 6653 genome.wustl.edu 37 11 121460762 121460762 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003105.4 +1 reviewed p.E1364D 0.997 98 0% 61 39.3% - - benign(0.005) tolerated(0.45) neutral(0.012) superfamily_LDL receptor-like module SORL1 6653 genome.wustl.edu 37 11 121491773 121491773 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003105.4 +1 reviewed p.L1964 0.285 111 0% 60 50% - - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III UBASH3B 84959 genome.wustl.edu 37 11 122647894 122647894 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032873.4 +1 validated p.H126 1.000 63 0% 55 20% - - - - - NULL UBASH3B 84959 genome.wustl.edu 37 11 122653814 122653814 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032873.4 +1 validated p.F219V 1.000 215 0% 138 39.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CRTAM 56253 genome.wustl.edu 37 11 122724709 122724709 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_019604.2 +1 validated p.E135 0.000 93 0% 48 31.2% - - - - - HMMPfam_C2-set_2,superfamily_Immunoglobulin CLMP 79827 genome.wustl.edu 37 11 122944340 122944340 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024769.2 -1 validated p.A322T 0.998 174 0% 136 11.8% - - probably_damaging(0.999) tolerated(0.4) deleterious(0.506) NULL ZNF202 7753 genome.wustl.edu 37 11 123597001 123597001 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003455.2 -1 validated p.R551W 0.087 86 0% 71 40.8% - - probably_damaging(0.959) deleterious(0.04) deleterious(0.752) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers OR4D5 219875 genome.wustl.edu 37 11 123810894 123810894 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001001965.1 +1 provisional p.D191Y 0.991 376 0% 130 33.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ENSG00000226461 0 genome.wustl.edu 37 11 123880423 123880423 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000430459 +1 known p.D18 0.000 158 0% 37 32.4% - - - - - superfamily_Family A G protein-coupled receptor-like OR10G7 390265 genome.wustl.edu 37 11 123909061 123909061 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001004463.1 -1 provisional p.S216 0.999 357 0% 164 33.5% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 VWA5A 4013 genome.wustl.edu 37 11 123993739 123993739 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001130142.1 +1 validated p.T278I 0.000 58 0% 39 12.8% - - benign(0.008) tolerated(0.39) neutral(0.016) superfamily_vWA-like VWA5A 4013 genome.wustl.edu 37 11 123994389 123994389 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001130142.1 +1 validated p.Q348* 0.003 120 0% 89 36% - - - - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like OR8B12 219858 genome.wustl.edu 37 11 124413062 124413062 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005195.1 -1 provisional p.M163I 0.000 128 0% 49 42.9% - - benign(0.01) tolerated(0.21) neutral(0.044) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR8A1 390275 genome.wustl.edu 37 11 124440490 124440490 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005194.1 +1 provisional p.E176* 0.014 153 0% 57 42.1% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 TBRG1 84897 genome.wustl.edu 37 11 124493084 124493084 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032811.2 +1 validated p.R35 1.000 14 0% 42 45.2% - - - - - NULL SIAE 54414 genome.wustl.edu 37 11 124519594 124519594 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_170601.3 -1 validated p.A215T 0.927 91 0% 45 22.2% - - benign(0.078) tolerated(0.36) neutral(0.026) HMMPfam_DUF303 PKNOX2 63876 genome.wustl.edu 37 11 125280723 125280723 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022062.2 +1 validated p.V256A 1.000 79 0% 92 35.9% - - possibly_damaging(0.865) tolerated(0.73) neutral(0.337) NULL ACRV1 56 genome.wustl.edu 37 11 125542517 125542517 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001612.4 -1 reviewed p.R257* 0.690 178 0.6% 50 34% - - - - - NULL PUS3 83480 genome.wustl.edu 37 11 125763822 125763822 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031307.3 -1 validated p.R435Q 0.876 297 0% 312 31.7% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL DDX25 29118 genome.wustl.edu 37 11 125791088 125791088 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013264.3 +1 reviewed p.I402L 1.000 21 0% 22 36.4% - - possibly_damaging(0.883) deleterious(0) deleterious(0.789) HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases ETS1 2113 genome.wustl.edu 37 11 128354720 128354720 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001143820.1 -1 validated p.R287H 1.000 105 0% 58 43.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL FLI1 2313 genome.wustl.edu 37 11 128680760 128680760 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002017.3 +1 validated p.S412 0.999 222 0% 125 32.8% - - - - - "superfamily_""Winged helix"" DNA-binding domain" KCNJ5 3762 genome.wustl.edu 37 11 128781572 128781572 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000890.3 +1 reviewed p.G135D 1.000 159 0% 150 46% - - probably_damaging(0.995) tolerated(0.11) deleterious(0.729) HMMPfam_IRK,superfamily_SSF81324 ARHGAP32 9743 genome.wustl.edu 37 11 128856518 128856518 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001142685.1 -1 validated p.P434 0.000 80 0% 22 22.7% - - - - - HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP NFRKB 4798 genome.wustl.edu 37 11 129747241 129747241 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006165.3 -1 validated p.E542D 1.000 146 0% 105 36.2% - - unknown(0) tolerated(0.07) - NULL NFRKB 4798 genome.wustl.edu 37 11 129762680 129762680 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006165.3 -1 validated p.G35D 0.856 72 0% 131 48.1% - - benign(0) tolerated(0.05) neutral(0.345) NULL APLP2 334 genome.wustl.edu 37 11 129980530 129980530 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001642.2 +1 validated p.R126H 1.000 176 0% 94 37.2% - - benign(0) tolerated(1) - HMMPfam_A4_EXTRA,HMMSmart_SM00006,superfamily_A heparin-binding domain APLP2 334 genome.wustl.edu 37 11 129992359 129992359 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001642.2 +1 validated p.P291 0.554 255 0% 233 11.6% - - - - - NULL APLP2 334 genome.wustl.edu 37 11 130013854 130013854 + RNA SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NR_024515.1 +1 validated NULL 0.009 4 0.000 4 1.000 - - - - - - ADAMTS8 11095 genome.wustl.edu 37 11 130286869 130286869 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007037.4 -1 reviewed p.G354 0.958 59 0% 119 43.7% - - - - - "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" SNX19 399979 genome.wustl.edu 37 11 130773266 130773266 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014758.2 -1 validated p.E819 0.277 185 0% 79 43% - - - - - NULL SNX19 399979 genome.wustl.edu 37 11 130784460 130784460 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014758.2 -1 validated p.G459* 0.008 205 0% 241 12% - - - - - NULL LOC100128095 100128095 genome.wustl.edu 37 11 132813180 132813180 + Silent SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002343137.1 +1 model p.L138 0.911 33 0% 49 36.7% - - - - - NULL SPATA19 219938 genome.wustl.edu 37 11 133714181 133714181 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_174927.1 -1 provisional p.V107I 0.997 106 0% 99 36.4% - - benign(0.231) deleterious(0) neutral(0.468) NULL IGSF9B 22997 genome.wustl.edu 37 11 133801024 133801024 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014987.1 -1 validated p.G458 1.000 45 0% 75 38.7% - - - - - HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 JAM3 83700 genome.wustl.edu 37 11 133938977 133938977 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032801.3 +1 reviewed p.D45G 0.994 16 0% 27 33.3% - - unknown(0) - - NULL NCAPD3 23310 genome.wustl.edu 37 11 134062673 134062673 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015261.2 -1 validated p.R652 0.988 65 0% 26 23.1% - - - - - superfamily_ARM-type_fold NCAPD3 23310 genome.wustl.edu 37 11 134072709 134072709 + Splice_Site SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015261.2 -1 validated e13+2 1.000 160 0% 78 39.7% - - - - - - ACAD8 27034 genome.wustl.edu 37 11 134127029 134127029 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014384.2 +1 reviewed p.F86 0.998 95 0% 119 42.9% - - unknown(0) - - HMMPfam_Acyl-CoA_dh_N,superfamily_AcylCoA_dehyd_NM GLB1L3 112937 genome.wustl.edu 37 11 134158721 134158721 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080407.2 +1 validated p.V222 0.957 87 0% 141 32.6% - - - - - HMMPfam_Glyco_hydro_35,superfamily_(Trans)glycosidases B3GAT1 27087 genome.wustl.edu 37 11 134253735 134253735 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018644.3 -1 reviewed p.L154M 1.000 26 0% 58 31% - - benign(0.009) tolerated(0.06) neutral(0.323) HMMPfam_Glyco_transf_43,superfamily_SSF53448 IQSEC3 440073 genome.wustl.edu 37 12 266194 266194 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015232.1 +1 validated p.C416 0.992 29 0% 42 40.5% - - - - - HMMPfam_Sec7,HMMSmart_Sec7,superfamily_Sec7 KDM5A 5927 genome.wustl.edu 37 12 427348 427348 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001042603.1 -1 reviewed p.A941T 1.000 124 0% 60 35% - - benign(0.354) tolerated(0.52) neutral(0.120) HMMPfam_PLU-1 KDM5A 5927 genome.wustl.edu 37 12 472156 472156 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001042603.1 -1 reviewed p.P215 0.984 153 0.7% 92 27.2% - - - - - NULL B4GALNT3 283358 genome.wustl.edu 37 12 666030 666030 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173593.3 +1 validated p.P793H 1.000 28 0% 45 26.7% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Nucleotide-diphospho-sugar transferases WNK1 65125 genome.wustl.edu 37 12 968540 968540 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018979.3 +1 reviewed p.K510 1.000 95 0% 27 22.2% - - - - - superfamily_Kinase_like WNK1 65125 genome.wustl.edu 37 12 999660 999660 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018979.3 +1 reviewed p.G1830 0.483 137 0% 79 35.4% - - - - - NULL WNK1 65125 genome.wustl.edu 37 12 1005485 1005485 + Silent SNP A A T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018979.3 +1 reviewed p.G1944 0.971 116 0% 51 13.7% - - - - - NULL ERC1 23085 genome.wustl.edu 37 12 1299074 1299074 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178040.2 +1 reviewed p.R736Q 1.000 173 0% 58 46.6% - - probably_damaging(0.99) deleterious(0.03) deleterious(0.806) HMMPfam_Cast ERC1 23085 genome.wustl.edu 37 12 1372309 1372309 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178040.2 +1 reviewed p.A866V 1.000 71 0% 60 36.7% - - probably_damaging(0.982) tolerated(0.51) neutral(0.435) HMMPfam_Cast DCP1B 196513 genome.wustl.edu 37 12 2061956 2061956 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152640.3 -1 validated p.R384C 0.002 70 0% 39 41% - - benign(0.377) tolerated(0.07) neutral(0.440) NULL CACNA1C 775 genome.wustl.edu 37 12 2676818 2676818 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_199460.2 +1 reviewed p.V585M 1.000 26 0% 38 31.6% - - possibly_damaging(0.887) tolerated(0.16) neutral(0.406) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels TEAD4 7004 genome.wustl.edu 37 12 3149321 3149321 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003213.2 +1 reviewed p.R363W 1.000 152 0% 181 34.8% - - probably_damaging(1) tolerated(0.09) deleterious(0.796) HMMPfam_TEA PRMT8 56341 genome.wustl.edu 37 12 3600829 3600829 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_019854.3 +1 validated p.R13M 0.997 50 0% 135 13.3% - - possibly_damaging(0.8) deleterious(0) deleterious(0.746) NULL PRMT8 56341 genome.wustl.edu 37 12 3678727 3678727 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_019854.3 +1 validated p.H237Y 1.000 129 0% 67 37.3% - - benign(0.001) deleterious(0.04) neutral(0.349) superfamily_S-adenosyl-L-methionine-dependent methyltransferases PRMT8 56341 genome.wustl.edu 37 12 3686075 3686075 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_019854.3 +1 validated p.R251W 1.000 81 1.2% 69 34.8% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_S-adenosyl-L-methionine-dependent methyltransferases DYRK4 8798 genome.wustl.edu 37 12 4719364 4719364 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003845.1 +1 provisional p.K353 1.000 175 0% 96 45.8% - - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase DYRK4 8798 genome.wustl.edu 37 12 4722809 4722809 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003845.1 +1 provisional p.A485T 0.808 51 0% 22 31.8% - - benign(0.001) tolerated(0.06) neutral(0.323) NULL AKAP3 10566 genome.wustl.edu 37 12 4736007 4736007 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006422.2 -1 reviewed p.S687 1.000 66 0% 49 26.5% - - - - - HMMPfam_AKAP_110,HMMSmart_SM00807 GALNT8 26290 genome.wustl.edu 37 12 4848464 4848464 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017417.1 +1 reviewed p.E215 0.999 133 0% 30 33.3% - - - - - HMMPfam_Glycos_transf_2,superfamily_SSF53448 GALNT8 26290 genome.wustl.edu 37 12 4855412 4855412 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017417.1 +1 reviewed p.E387D 0.999 249 0.4% 82 34.1% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_SSF53448 GALNT8 26290 genome.wustl.edu 37 12 4870230 4870230 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017417.1 +1 reviewed p.R427H 0.600 126 0% 101 13.9% - - probably_damaging(0.988) tolerated(0.3) neutral(0.466) superfamily_SSF53448 KCNA6 3742 genome.wustl.edu 37 12 4919546 4919546 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002235.3 +1 reviewed p.P113 0.988 27 0% 61 21.3% - - - - - HMMSmart_BTB,HMMPfam_K_tetra,superfamily_BTB/POZ_fold KCNA1 3736 genome.wustl.edu 37 12 5020712 5020712 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000217.2 +1 reviewed p.A56 0.977 31 0% 58 44.8% - - - - - HMMSmart_BTB,HMMPfam_K_tetra,superfamily_BTB/POZ_fold LOC390282 390282 genome.wustl.edu 37 12 5141938 5141938 + Missense_Mutation SNP C C T rs138419600 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_372447.5 -1 model p.R53Q 1.000 32 0% 32 28.1% - - - - - NULL ANO2 57101 genome.wustl.edu 37 12 5672678 5672678 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020373.2 -1 validated p.T928 0.853 61 0% 61 37.7% - - - - - HMMPfam_DUF590 ANO2 57101 genome.wustl.edu 37 12 5687557 5687557 + Silent SNP C C T rs149600297 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020373.2 -1 validated p.P787 0.766 135 0.7% 99 32.3% - - - - - HMMPfam_DUF590 ANO2 57101 genome.wustl.edu 37 12 5939599 5939599 + Splice_Site SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020373.2 -1 validated e6+2 1.000 215 0% 216 32.4% - - - - - - ANO2 57101 genome.wustl.edu 37 12 5963308 5963308 + Splice_Site SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020373.2 -1 validated e4-1 1.000 52 0% 32 28.1% - - - - - - VWF 7450 genome.wustl.edu 37 12 6103645 6103645 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000552.3 -1 reviewed p.Q2064 0.970 356 0% 188 24.5% - - - - - HMMPfam_VWD,HMMSmart_SM00216 LTBR 4055 genome.wustl.edu 37 12 6494215 6494215 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002342.1 +1 reviewed p.R74H 0.000 58 0% 107 41.1% - - benign(0.042) tolerated(0.27) neutral(0.036) HMMPfam_TNFR_c6,HMMSmart_TNFR,PatternScan_TNFR_NGFR_1,superfamily_SSF57586 LTBR 4055 genome.wustl.edu 37 12 6495305 6495305 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002342.1 +1 reviewed p.S182 0.001 60 0% 95 45.3% - - - - - HMMSmart_TNFR LOC678655 678655 genome.wustl.edu 37 12 6559883 6559883 + RNA SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NR_015382.1 -1 predicted NULL 0.000 62 0% 56 41.1% - - - - - - NCAPD2 9918 genome.wustl.edu 37 12 6638979 6638979 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014865.3 +1 validated p.S1231L 0.987 33 0% 78 38.5% - - possibly_damaging(0.681) deleterious(0) deleterious(0.688) NULL NOP2 4839 genome.wustl.edu 37 12 6672800 6672800 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001033714.1 -1 validated p.P219H 0.421 80 0% 133 33.8% - - benign(0.186) tolerated(0.11) neutral(0.289) NULL CHD4 1108 genome.wustl.edu 37 12 6692411 6692411 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001273.2 -1 reviewed p.R1338I 1.000 196 0% 213 32.9% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_DUF1087 LPAR5 57121 genome.wustl.edu 37 12 6729587 6729587 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001142961.1 -1 reviewed p.R276 0.148 6 0.000 27 0.556 - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like LPAR5 57121 genome.wustl.edu 37 12 6730386 6730386 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001142961.1 -1 reviewed p.S10I 0.000 216 0% 338 34.9% - - possibly_damaging(0.563) deleterious(0.02) deleterious(0.576) superfamily_Family A G protein-coupled receptor-like USP5 8078 genome.wustl.edu 37 12 6972349 6972349 + Splice_Site SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001098536.1 +1 validated e15-1 1.000 70 0% 113 15.9% - - - - - - ENO2 2026 genome.wustl.edu 37 12 7024999 7024999 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001975.2 +1 reviewed p.M1I 1.000 27 0% 45 48.9% - - benign(0.175) deleterious(0.03) neutral(0.381) NULL C12orf57 113246 genome.wustl.edu 37 12 7053326 7053326 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138425.2 +1 provisional p.E14D 0.977 35 0% 102 41.2% - - probably_damaging(0.998) tolerated(0.11) deleterious(0.746) NULL C1R 715 genome.wustl.edu 37 12 7241932 7241932 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000290575 -1 known p.I256S 1.000 223 0% 229 39.7% - - probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain C1RL 51279 genome.wustl.edu 37 12 7249386 7249386 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016546.2 -1 validated p.V355 0.995 88 1.1% 72 16.7% - - - - - HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys C1RL 51279 genome.wustl.edu 37 12 7260929 7260929 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016546.2 -1 validated p.A73V 0.992 49 0% 82 32.9% - - probably_damaging(1) tolerated(1) deleterious(0.500) HMMPfam_CUB,HMMSmart_CUB,superfamily_CUB CLSTN3 9746 genome.wustl.edu 37 12 7309118 7309118 + Missense_Mutation SNP G G A rs141269161 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000331148 +1 known p.R49H 0.000 8 0.000 8 0.500 - - - - - NULL PEX5 5830 genome.wustl.edu 37 12 7344227 7344227 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001131023.1 +1 reviewed p.D142Y 1.000 175 0% 283 33.2% - - possibly_damaging(0.53) deleterious(0.02) deleterious(0.562) NULL CD163L1 283316 genome.wustl.edu 37 12 7527978 7527978 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_174941.4 -1 reviewed p.F967S 0.020 73 0% 45 35.6% - - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like CD163L1 283316 genome.wustl.edu 37 12 7528549 7528549 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_174941.4 -1 reviewed p.K811 0.000 90 0% 53 54.7% - - - - - HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like ENSG00000246407 0 genome.wustl.edu 37 12 8385184 8385184 + RNA SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000499592 -1 known NULL 0.056 340 0% 449 22.5% - - - - - - CLEC4E 26253 genome.wustl.edu 37 12 8691893 8691893 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014358.2 -1 reviewed p.R47H 0.000 173 0% 96 14.6% - - benign(0.001) tolerated(0.26) neutral(0.034) NULL AICDA 57379 genome.wustl.edu 37 12 8756935 8756935 + Splice_Site SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020661.2 -1 reviewed e5-2 0.999 95 0% 103 36.9% - - - - - - AICDA 57379 genome.wustl.edu 37 12 8757480 8757480 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020661.2 -1 reviewed p.E156K 0.825 33 0% 89 27% - - benign(0) tolerated(0.89) - HMMPfam_APOBEC_C,superfamily_Cytidine deaminase-like MFAP5 8076 genome.wustl.edu 37 12 8808410 8808410 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003480.2 -1 reviewed p.A37 0.001 128 0% 65 36.9% - - - - - HMMPfam_MAGP A2ML1 144568 genome.wustl.edu 37 12 8975809 8975809 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144670.3 +1 validated p.N32H 0.968 96 0% 91 42.9% - - benign(0.009) tolerated(1) neutral(0.001) HMMPfam_A2M_N A2ML1 144568 genome.wustl.edu 37 12 9006822 9006822 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144670.3 +1 validated p.L897I 1.000 128 0% 69 37.7% - - benign(0.23) tolerated(0.43) neutral(0.036) NULL PHC1 1911 genome.wustl.edu 37 12 9089468 9089468 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004426.2 +1 reviewed p.A795 0.462 90 0% 75 40% - - - - - HMMPfam_zf-FCS M6PR 4074 genome.wustl.edu 37 12 9094481 9094481 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002355.2 -1 reviewed p.R256H 1.000 184 0% 110 32.7% - - probably_damaging(0.999) tolerated(0.13) deleterious(0.743) HMMPfam_Man-6-P_recep PZP 5858 genome.wustl.edu 37 12 9317964 9317964 + Splice_Site SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002864.2 -1 validated e19-1 0.567 86 0% 44 36.4% - - - - - - PZP 5858 genome.wustl.edu 37 12 9346783 9346783 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002864.2 -1 validated p.I382V 0.047 233 0% 169 32.5% - - benign(0.026) tolerated(0.45) neutral(0.013) NULL DDX11L8 100302090 genome.wustl.edu 37 12 9465240 9465240 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000341155 +1 known p.G829R 1.000 78 0% 124 28.2% - - - - - HMMSmart_SM00491 DDX12P 440081 genome.wustl.edu 37 12 9571785 9571785 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000290818 -1 known p.P821H 1.000 35 0% 72 50% - - - - - HMMSmart_SM00491 CLEC12A 160364 genome.wustl.edu 37 12 10134679 10134679 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138337.5 +1 reviewed p.D198Y 0.000 120 0% 31 29% - - benign(0.002) tolerated(0.5) neutral(0.010) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like CLEC7A 64581 genome.wustl.edu 37 12 10280288 10280288 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000422474 -1 known p.A87V 0.000 88 0% 62 41.9% - - unknown(0) - - NULL OLR1 4973 genome.wustl.edu 37 12 10319318 10319318 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002543.3 -1 reviewed p.N139K 0.006 261 0.4% 100 33% - - possibly_damaging(0.949) deleterious(0) deleterious(0.838) NULL KLRC4 8302 genome.wustl.edu 37 12 10560376 10560376 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013431.2 -1 reviewed p.G118D 0.000 233 0% 51 35.3% - - benign(0.048) tolerated(0.12) neutral(0.264) NULL ENSG00000180574 0 genome.wustl.edu 37 12 10658540 10658540 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000322446 +1 known p.P13 0.983 87 0% 69 46.4% - - - - - NULL STYK1 55359 genome.wustl.edu 37 12 10782235 10782235 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018423.2 -1 validated p.R164* 0.994 105 0% 44 29.5% - - - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) PRH1 5554 genome.wustl.edu 37 12 11035030 11035030 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006250.2 -1 provisional p.P102H 0.001 287 0% 92 15.2% - - unknown(0) tolerated(0.64) - NULL ETV6 2120 genome.wustl.edu 37 12 11905513 11905513 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001987.4 +1 reviewed p.R55C 1.000 45 0% 24 29.2% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_SAM_PNT,HMMSmart_SM00251,superfamily_SAM/Pointed domain LRP6 4040 genome.wustl.edu 37 12 12301955 12301955 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002336.2 -1 reviewed p.L1043V 0.994 154 0% 57 14% - - benign(0.06) deleterious(0.02) neutral(0.387) HMMPfam_Ldl_recept_b,HMMSmart_SM00135,superfamily_YWTD domain GPR19 2842 genome.wustl.edu 37 12 12814617 12814617 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006143.2 -1 validated p.D256Y 0.982 46 0% 48 39.6% - - possibly_damaging(0.835) tolerated(0.08) deleterious(0.619) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like KIAA1467 57613 genome.wustl.edu 37 12 13221342 13221342 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020853.1 +1 validated p.L416R 0.961 92 0% 37 43.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL C12orf36 283422 genome.wustl.edu 37 12 13529332 13529332 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182558.1 -1 provisional p.R3I 0.005 139 0% 50 26% - - unknown(0) - - NULL GRIN2B 2904 genome.wustl.edu 37 12 13716798 13716798 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000834.3 -1 reviewed p.D1125G 1.000 73 0% 102 10.8% - - possibly_damaging(0.646) tolerated(0.12) deleterious(0.487) HMMPfam_NMDAR2_C ATF7IP 55729 genome.wustl.edu 37 12 14591107 14591107 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018179.3 +1 validated p.C612Y 1.000 198 0% 134 32.1% - - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL ATF7IP 55729 genome.wustl.edu 37 12 14649176 14649176 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018179.3 +1 validated p.R1098* 0.997 78 0% 17 29.4% - - - - - NULL PLBD1 79887 genome.wustl.edu 37 12 14706157 14706157 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024829.5 -1 validated p.A102V 0.999 119 0% 42 11.9% - - probably_damaging(0.972) deleterious(0.01) deleterious(0.820) HMMPfam_Phospholip_B GUCY2C 2984 genome.wustl.edu 37 12 14792826 14792826 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004963.3 -1 validated p.F709 0.999 229 0% 72 31.9% - - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase WBP11 51729 genome.wustl.edu 37 12 14940166 14940166 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016312.2 -1 reviewed p.R587W 1.000 191 0% 110 33.6% - - unknown(0) deleterious(0) - NULL PDE6H 5149 genome.wustl.edu 37 12 15132112 15132112 + Splice_Site SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006205.2 +1 reviewed e2-1 1.000 229 0% 83 36.1% - - - - - - PTPRO 5800 genome.wustl.edu 37 12 15668462 15668462 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030667.1 +1 reviewed p.L499M 1.000 188 0% 58 13.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III STRAP 11171 genome.wustl.edu 37 12 16052859 16052859 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007178.3 +1 validated p.G266D 1.000 102 0% 36 13.9% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 STRAP 11171 genome.wustl.edu 37 12 16055867 16055867 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007178.3 +1 validated p.E336D 1.000 58 0% 33 39.4% - - benign(0.005) deleterious(0) neutral(0.445) NULL PLCZ1 89869 genome.wustl.edu 37 12 18872468 18872468 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033123.2 -1 provisional p.D156Y 1.000 126 0% 45 40% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00148,superfamily_EF-hand PDE3A 5139 genome.wustl.edu 37 12 20807094 20807094 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000921.3 +1 validated p.P1047T 0.002 220 0% 74 40.5% - - benign(0) tolerated(0.16) neutral(0.059) superfamily_SSF109604 SLCO1C1 53919 genome.wustl.edu 37 12 20854291 20854291 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017435.4 +1 reviewed p.A57T 1.000 306 0% 84 35.7% - - benign(0.308) tolerated(0.37) neutral(0.115) HMMPfam_OATP,superfamily_MFS_gen_substrate_transporter SLCO1C1 53919 genome.wustl.edu 37 12 20858887 20858887 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017435.4 +1 reviewed p.N92K 1.000 84 0% 36 50% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_OATP,superfamily_MFS_gen_substrate_transporter SLCO1A2 6579 genome.wustl.edu 37 12 21422649 21422649 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021094.3 -1 reviewed p.A616T 0.996 163 0% 38 42.1% - - benign(0.056) tolerated(0.37) neutral(0.022) superfamily_MFS general substrate transporter ABCC9 10060 genome.wustl.edu 37 12 22035766 22035766 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005691.2 -1 reviewed p.H651 1.000 147 0% 44 27.3% - - - - - NULL CMAS 55907 genome.wustl.edu 37 12 22208151 22208151 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018686.3 +1 reviewed p.R110Q 1.000 141 0% 84 39.3% - - possibly_damaging(0.885) tolerated(0.27) neutral(0.379) HMMPfam_CTP_transf_3,superfamily_Nucleotide-diphospho-sugar transferases BCAT1 586 genome.wustl.edu 37 12 24970965 24970965 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005504.6 -1 reviewed p.D380N 0.992 225 0% 49 32.7% - - benign(0) tolerated(0.22) neutral(0.042) superfamily_Aminotrans_IV BHLHE41 79365 genome.wustl.edu 37 12 26277093 26277093 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030762.2 -1 reviewed p.H49R 1.000 178 0% 333 36% - - probably_damaging(0.999) tolerated(0.05) deleterious(0.836) HMMPfam_HLH,superfamily_HLH helix-loop-helix DNA-binding domain ITPR2 3709 genome.wustl.edu 37 12 26629871 26629871 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002223.2 -1 validated p.L2065I 1.000 196 0% 137 35.8% - - probably_damaging(0.992) deleterious(0.01) deleterious(0.853) NULL ITPR2 3709 genome.wustl.edu 37 12 26714876 26714876 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002223.2 -1 validated p.R1547H 1.000 51 0% 24 45.8% - - probably_damaging(1) tolerated(0.16) deleterious(0.559) NULL FGFR1OP2 26127 genome.wustl.edu 37 12 27113463 27113463 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015633.2 +1 validated p.R138C 1.000 77 0% 20 45% - - probably_damaging(0.985) deleterious(0) deleterious(0.877) HMMPfam_DUF837 FAR2 55711 genome.wustl.edu 37 12 29423524 29423524 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018099.3 +1 provisional p.A48T 1.000 61 0% 32 34.4% - - benign(0.151) tolerated(0.12) neutral(0.274) HMMPfam_NAD_binding_4,superfamily_NAD(P)-bd ERGIC2 51290 genome.wustl.edu 37 12 29524467 29524467 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016570.2 -1 validated p.G34C 1.000 163 0% 31 22.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL OVCH1 341350 genome.wustl.edu 37 12 29649182 29649182 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_183378.2 -1 validated p.F71 0.035 109 0% 75 36% - - - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases TMTC1 83857 genome.wustl.edu 37 12 29736385 29736385 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_175861.2 -1 provisional p.T350I 1.000 91 0% 22 31.8% - - probably_damaging(0.997) deleterious(0.05) deleterious(0.811) NULL TMTC1 83857 genome.wustl.edu 37 12 29920832 29920832 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_175861.2 -1 provisional p.A52V 1.000 114 0% 22 36.4% - - probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL CAPRIN2 65981 genome.wustl.edu 37 12 30877365 30877365 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001002259.1 -1 validated p.D642 1.000 135 0% 28 35.7% - - - - - NULL OVOS2 144203 genome.wustl.edu 37 12 31301826 31301826 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002343151.1 -1 model p.Y376D 0.998 385 0% 132 36.4% - - - - - NULL C12orf35 55196 genome.wustl.edu 37 12 32145425 32145425 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018169.3 +1 validated p.L1734M 0.924 86 0% 63 14.3% - - benign(0.048) tolerated(0.72) neutral(0.005) NULL FGD4 121512 genome.wustl.edu 37 12 32791807 32791807 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000266482 +1 known p.I459 0.000 82 0% 44 34.1% - - - - - NULL YARS2 51067 genome.wustl.edu 37 12 32908751 32908751 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001040436.1 -1 validated p.L20I 0.000 12 0% 23 39.1% - - benign(0.006) tolerated(0.28) neutral(0.032) NULL PKP2 5318 genome.wustl.edu 37 12 32955357 32955357 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004572.3 -1 reviewed p.L760R 0.968 48 0% 27 48.1% - - benign(0.025) tolerated(0.63) neutral(0.005) superfamily_ARM repeat SYT10 341359 genome.wustl.edu 37 12 33579088 33579088 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198992.2 -1 provisional p.P165H 1.000 128 0% 65 33.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ALG10 84920 genome.wustl.edu 37 12 34176942 34176942 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032834.3 +1 reviewed p.I73V 0.993 416 1.4% 229 17% - - benign(0) tolerated(1) - HMMPfam_DIE2_ALG10 ALG10B 144245 genome.wustl.edu 37 12 38712177 38712177 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001013620.3 +1 validated p.L96F 1.000 421 0% 175 13.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DIE2_ALG10 KIF21A 55605 genome.wustl.edu 37 12 39705269 39705269 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017641.3 -1 validated p.A1336V 1.000 153 0% 49 32.7% - - possibly_damaging(0.568) tolerated(0.05) deleterious(0.540) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 ABCD2 225 genome.wustl.edu 37 12 40013068 40013068 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005164.3 -1 reviewed p.R117I 1.000 136 0.7% 81 30.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ABC_membrane_2 ABCD2 225 genome.wustl.edu 37 12 40013228 40013228 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005164.3 -1 reviewed p.E64* 0.001 98 0% 91 42.9% - - - - - NULL C12orf40 283461 genome.wustl.edu 37 12 40078675 40078675 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001031748.2 +1 validated p.N431K 0.000 126 0% 28 39.3% - - probably_damaging(0.957) - - NULL SLC2A13 114134 genome.wustl.edu 37 12 40224027 40224027 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_052885.3 -1 validated p.Y441 1.000 114 0% 30 40% - - - - - HMMPfam_Sugar_tr,superfamily_MFS general substrate transporter CNTN1 1272 genome.wustl.edu 37 12 41337806 41337806 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001843.2 +1 reviewed p.R506Q 0.998 122 0% 26 42.3% - - possibly_damaging(0.883) tolerated(0.15) deleterious(0.586) superfamily_Immunoglobulin PDZRN4 29951 genome.wustl.edu 37 12 41967307 41967307 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013377.3 +1 validated p.R651Q 0.995 59 0% 16 31.2% - - probably_damaging(0.983) tolerated(0.18) deleterious(0.485) NULL PPHLN1 51535 genome.wustl.edu 37 12 42787449 42787449 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016488.6 +1 reviewed p.E242D 1.000 87 0% 56 35.7% - - possibly_damaging(0.935) deleterious(0.04) deleterious(0.730) NULL PRICKLE1 144165 genome.wustl.edu 37 12 42860145 42860145 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001144881.1 -1 reviewed p.R209H 1.000 108 0% 76 39.5% - - probably_damaging(0.963) deleterious(0.02) deleterious(0.788) HMMPfam_LIM,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,superfamily_SSF57716 ADAMTS20 80070 genome.wustl.edu 37 12 43833714 43833714 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025003.3 -1 validated p.E817* 1.000 210 0% 66 30.3% - - - - - HMMPfam_ADAM_spacer1 ADAMTS20 80070 genome.wustl.edu 37 12 43833812 43833812 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025003.3 -1 validated p.K784R 1.000 116 0% 49 26.5% - - benign(0.016) tolerated(0.31) neutral(0.028) HMMPfam_ADAM_spacer1 ADAMTS20 80070 genome.wustl.edu 37 12 43884214 43884214 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025003.3 -1 validated p.E367 1.000 92 0% 48 33.3% - - - - - "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" PUS7L 83448 genome.wustl.edu 37 12 44124360 44124360 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001098614.1 -1 validated p.R642I 0.995 168 0% 44 18.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TruD,superfamily_PsdUridine_synth_cat_dom TWF1 5756 genome.wustl.edu 37 12 44190850 44190850 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002822.3 -1 reviewed p.L305M 1.000 95 0% 88 31.8% - - probably_damaging(1) tolerated(0.27) deleterious(0.533) HMMPfam_Cofilin_ADF,HMMSmart_SM00102,superfamily_Actin depolymerizing proteins TMEM117 84216 genome.wustl.edu 37 12 44537328 44537328 + Silent SNP A A T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032256.1 +1 provisional p.G137 1.000 146 0% 88 30.7% - - unknown(0) - - NULL ANO6 196527 genome.wustl.edu 37 12 45741978 45741978 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001142679.1 +1 validated p.D171 0.991 159 0% 28 25% - - - - - NULL ARID2 196528 genome.wustl.edu 37 12 46240707 46240707 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152641.2 +1 validated p.F523V 1.000 237 0% 50 40% - - possibly_damaging(0.951) deleterious(0.01) deleterious(0.800) NULL AMIGO2 347902 genome.wustl.edu 37 12 47472313 47472313 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001143668.1 -1 validated p.P158H 0.864 108 0% 148 14.9% - - benign(0.422) tolerated(0.11) neutral(0.409) HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058 LOC100288986 100288986 genome.wustl.edu 37 12 47629353 47629353 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002343197.1 -1 model p.A47T 0.196 11 0% 17 23.5% - - - - - NULL FAM113B 91523 genome.wustl.edu 37 12 47629808 47629808 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138371.1 +1 predicted p.P321H 0.000 58 0% 118 15.3% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL HDAC7 51564 genome.wustl.edu 37 12 48191242 48191242 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015401.3 -1 reviewed p.M168V 0.993 56 0% 153 32.7% - - benign(0) tolerated(0.23) neutral(0.042) NULL COL2A1 1280 genome.wustl.edu 37 12 48368621 48368621 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001844.4 -1 reviewed p.Q1304R 1.000 91 0% 114 36% - - unknown(0) deleterious(0.01) - HMMPfam_COLFI,HMMSmart_SM00038 COL2A1 1280 genome.wustl.edu 37 12 48372389 48372389 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001844.4 -1 reviewed p.D962 0.694 19 0% 20 30% - - - - - HMMPfam_Collagen SENP1 29843 genome.wustl.edu 37 12 48477430 48477430 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014554.2 -1 validated p.R166* 1.000 164 0% 88 44.3% - - - - - NULL PFKM 5213 genome.wustl.edu 37 12 48536719 48536719 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000289.5 +1 reviewed p.R603Q 0.995 48 0% 47 46.8% - - benign(0.007) tolerated(0.43) neutral(0.013) HMMPfam_PFK,superfamily_Phosphofructokinase ASB8 140461 genome.wustl.edu 37 12 48543613 48543613 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024095.3 -1 validated p.R135W 0.997 42 0% 54 35.2% - - probably_damaging(0.983) deleterious(0) deleterious(0.873) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK OR10AD1 121275 genome.wustl.edu 37 12 48596596 48596596 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001004134.1 -1 provisional p.L160 0.000 100 0% 77 41.6% - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ZNF641 121274 genome.wustl.edu 37 12 48737361 48737361 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152320.2 -1 validated p.L238M 0.360 45 0% 79 39.2% - - possibly_damaging(0.44) tolerated(0.24) neutral(0.181) NULL ARF3 377 genome.wustl.edu 37 12 49332794 49332794 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001659.2 -1 reviewed p.T161I 1.000 139 0% 135 38.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00175,HMMSmart_SM00178,HMMSmart_SM00177,PatternScan_ARF,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases WNT10B 7480 genome.wustl.edu 37 12 49360014 49360014 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003394.2 -1 reviewed p.G345D 1.000 33 0% 54 37% - - probably_damaging(0.991) tolerated(0.46) neutral(0.456) HMMPfam_wnt,HMMSmart_SM00097 MLL2 8085 genome.wustl.edu 37 12 49427717 49427717 + Missense_Mutation SNP G G A rs182159847 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003482.3 -1 validated p.L3591F 1.000 37 0% 73 39.7% - - unknown(0) - - NULL MLL2 8085 genome.wustl.edu 37 12 49432210 49432210 + Missense_Mutation SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003482.3 -1 validated p.N2977Y 0.990 127 0% 177 39% - - unknown(0) - - NULL MLL2 8085 genome.wustl.edu 37 12 49433743 49433743 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003482.3 -1 validated p.S2604G 1.000 72 0% 113 14.2% - - unknown(0) - - NULL MLL2 8085 genome.wustl.edu 37 12 49443758 49443758 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003482.3 -1 validated p.V1205I 0.933 26 0% 53 32.1% - - unknown(0) - - NULL MLL2 8085 genome.wustl.edu 37 12 49444771 49444771 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003482.3 -1 validated p.A899S 0.881 50 0% 74 41.9% - - unknown(0) - - NULL MLL2 8085 genome.wustl.edu 37 12 49445444 49445444 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003482.3 -1 validated p.P674 0.000 137 2.2% 162 10.5% - - - - - NULL MLL2 8085 genome.wustl.edu 37 12 49445763 49445763 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003482.3 -1 validated p.E568G 1.000 346 0% 477 35.8% - - unknown(0) - - NULL MLL2 8085 genome.wustl.edu 37 12 49449095 49449095 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003482.3 -1 validated p.K5Q 1.000 96 0% 122 40.2% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ENSG00000246003 0 genome.wustl.edu 37 12 49690565 49690565 + RNA SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000501178 -1 known NULL 0.147 13 0% 26 38.5% - - - - - - TROAP 10024 genome.wustl.edu 37 12 49723190 49723190 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005480.3 +1 validated p.R373C 0.819 124 0% 168 40.5% - - probably_damaging(0.997) tolerated(0.05) deleterious(0.811) NULL KCNH3 23416 genome.wustl.edu 37 12 49950176 49950176 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012284.1 +1 validated p.G831D 1.000 72 0% 127 11% - - benign(0.036) tolerated(0.05) neutral(0.347) NULL FAM186B 84070 genome.wustl.edu 37 12 49993776 49993776 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032130.2 -1 validated p.E549D 0.001 184 0% 137 36.5% - - benign(0.256) tolerated(0.33) neutral(0.051) NULL NCKAP5L 57701 genome.wustl.edu 37 12 50190545 50190545 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000433948 -1 known p.A81T 0.034 24 0% 42 26.2% - - - - - NULL ASIC1 41 genome.wustl.edu 37 12 50453726 50453726 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020039.2 +1 reviewed p.D183Y 1.000 52 0% 85 30.6% - - possibly_damaging(0.832) deleterious(0.02) deleterious(0.700) HMMPfam_ASC SMARCD1 6602 genome.wustl.edu 37 12 50479963 50479963 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003076.4 +1 reviewed p.G66D 1.000 44 0% 67 34.3% - - possibly_damaging(0.88) deleterious(0) deleterious(0.788) NULL LIMA1 51474 genome.wustl.edu 37 12 50599785 50599785 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001113546.1 -1 validated p.D233N 1.000 136 0% 71 9.9% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL FAM186A 121006 genome.wustl.edu 37 12 50745528 50745528 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001145475.1 -1 provisional p.A1696V 0.000 140 0% 108 38.9% - - benign(0.008) deleterious(0.01) neutral(0.406) NULL FAM186A 121006 genome.wustl.edu 37 12 50748747 50748747 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001145475.1 -1 provisional p.K623T 0.001 76 0% 51 39.2% - - benign(0.036) deleterious(0.02) neutral(0.385) NULL METTL7A 25840 genome.wustl.edu 37 12 51318825 51318825 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014033.3 +1 validated p.E2K 0.996 238 0% 95 38.9% - - benign(0.017) tolerated(0.14) neutral(0.250) NULL TFCP2 7024 genome.wustl.edu 37 12 51489798 51489798 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005653.4 -1 reviewed p.A482V 1.000 206 0% 118 12.7% - - benign(0) deleterious(0.05) neutral(0.345) NULL SLC4A8 9498 genome.wustl.edu 37 12 51888777 51888777 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001039960.1 +1 validated p.D940N 1.000 179 0% 75 40% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HCO3_cotransp SCN8A 6334 genome.wustl.edu 37 12 52200884 52200884 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014191.2 +1 reviewed p.R1872W 1.000 47 0% 51 13.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ANKRD33 341405 genome.wustl.edu 37 12 52282954 52282954 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182608.3 +1 validated p.T167M 1.000 49 0% 85 41.2% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat ACVR1B 91 genome.wustl.edu 37 12 52370164 52370164 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004302.3 +1 reviewed p.G129C 0.997 205 0% 141 32.6% - - possibly_damaging(0.567) deleterious(0.04) deleterious(0.543) NULL GRASP 160622 genome.wustl.edu 37 12 52404672 52404672 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_181711.2 +1 provisional p.L102 1.000 124 0% 226 36.3% - - - - - HMMPfam_PDZ,superfamily_PDZ domain-like ENSG00000135477 0 genome.wustl.edu 37 12 52647505 52647505 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000257935 -1 known p.V262 0.009 87 0% 138 28.3% - - - - - HMMPfam_Filament KRT81 3887 genome.wustl.edu 37 12 52680258 52680258 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002281.3 -1 reviewed p.G433 0.955 20 0% 32 37.5% - - - - - NULL KRT6B 3854 genome.wustl.edu 37 12 52841348 52841348 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005555.3 -1 reviewed p.G478 0.786 133 0% 118 34.7% - - - - - NULL ENSG00000248214 0 genome.wustl.edu 37 12 53004758 53004758 + RNA SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000507911 +1 known NULL 0.000 25 0% 27 18.5% - - - - - - KRT2 3849 genome.wustl.edu 37 12 53038807 53038807 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000423.2 -1 reviewed p.R639I 1.000 41 0% 41 41.5% - - unknown(0) - - NULL KRT77 374454 genome.wustl.edu 37 12 53090174 53090174 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_175078.2 -1 reviewed p.D267Y 1.000 148 0% 178 34.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Filament KRT3 3850 genome.wustl.edu 37 12 53184620 53184620 + Splice_Site SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_057088.2 -1 reviewed e8+2 1.000 173 0% 265 39.6% - - - - - - KRT4 3851 genome.wustl.edu 37 12 53207637 53207637 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002272.2 -1 reviewed p.R143Q 0.882 79 0% 65 35.4% - - benign(0.011) tolerated(0.08) neutral(0.300) NULL KRT78 196374 genome.wustl.edu 37 12 53233752 53233752 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173352.2 -1 reviewed p.A355V 0.001 40 0% 69 11.6% - - benign(0) tolerated(0.1) neutral(0.286) HMMPfam_Filament SOAT2 8435 genome.wustl.edu 37 12 53509332 53509332 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003578.3 +1 reviewed p.C201Y 1.000 28 3.6% 46 17.4% - - possibly_damaging(0.818) tolerated(1) neutral(0.309) HMMPfam_MBOAT ITGB7 3695 genome.wustl.edu 37 12 53585680 53585680 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000889.1 -1 provisional p.R760H 1.000 71 0% 125 33.6% - - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_Integrin_b_cyt ITGB7 3695 genome.wustl.edu 37 12 53589872 53589872 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000889.1 -1 provisional p.H310Y 1.000 99 0% 142 11.3% - - benign(0.314) deleterious(0.01) deleterious(0.504) HMMPfam_Integrin_beta,HMMSmart_SM00187,superfamily_vWA-like SP7 121340 genome.wustl.edu 37 12 53722652 53722652 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152860.1 -1 provisional p.N192H 1.000 119 0% 170 31.8% - - benign(0.022) tolerated(1) neutral(0.001) NULL SP7 121340 genome.wustl.edu 37 12 53722793 53722793 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152860.1 -1 provisional p.A145T 1.000 147 0% 178 33.7% - - benign(0.134) tolerated(0.12) neutral(0.272) NULL SP1 6667 genome.wustl.edu 37 12 53804872 53804872 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138473.2 +1 validated p.G736S 0.665 90 1.1% 100 39% - - possibly_damaging(0.916) tolerated(0.31) neutral(0.394) NULL NPFF 8620 genome.wustl.edu 37 12 53900915 53900915 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003717.2 -1 reviewed p.S38 0.000 72 0% 70 31.4% - - - - - NULL CBX5 23468 genome.wustl.edu 37 12 54651350 54651350 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001127321.1 -1 reviewed p.R29C 1.000 201 0% 175 39.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Chromo,HMMSmart_SM00298,superfamily_Chromo domain-like ITGA5 3678 genome.wustl.edu 37 12 54803305 54803305 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000435631 -1 known p.R99W 0.751 31 0% 29 31% - - unknown(0) - - NULL NCKAP1L 3071 genome.wustl.edu 37 12 54903678 54903678 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005337.4 +1 reviewed p.R215I 1.000 208 0% 87 40.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Nckap1 OR6C1 390321 genome.wustl.edu 37 12 55714751 55714751 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005182.1 +1 provisional p.A123V 1.000 116 0.9% 28 17.9% - - possibly_damaging(0.898) deleterious(0.01) deleterious(0.760) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like OR6C75 390323 genome.wustl.edu 37 12 55759166 55759166 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005497.1 +1 provisional p.S91Y 0.960 209 0% 61 49.2% - - possibly_damaging(0.88) deleterious(0) deleterious(0.788) HMMPfam_7tm_1,superfamily_SSF81321 OR6C2 341416 genome.wustl.edu 37 12 55846627 55846627 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_054105.1 +1 provisional p.V210 0.000 227 0% 51 43.1% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 ITGA7 3679 genome.wustl.edu 37 12 56093654 56093654 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002206.2 -1 reviewed p.G264C 1.000 109 0% 188 10.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00191,superfamily_Integrin alpha N-terminal domain ITGA7 3679 genome.wustl.edu 37 12 56094118 56094118 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001144996.1 -1 reviewed p.G244S 1.000 20 0% 31 25.8% - - benign(0) tolerated(0.27) neutral(0.034) superfamily_Integrin alpha N-terminal domain MMP19 4327 genome.wustl.edu 37 12 56230886 56230886 + Silent SNP A A T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002429.4 -1 reviewed p.T487 0.000 115 0% 137 36.5% - - - - - NULL MMP19 4327 genome.wustl.edu 37 12 56231451 56231451 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002429.4 -1 reviewed p.R359H 1.000 91 0% 94 42.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Hemopexin-like domain,HMMPfam_Hemopexin,HMMSmart_SM00120 MMP19 4327 genome.wustl.edu 37 12 56232509 56232509 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002429.4 -1 reviewed p.S259N 0.004 133 0% 133 27.1% - - benign(0.069) tolerated(0.05) neutral(0.350) NULL PMEL 6490 genome.wustl.edu 37 12 56348059 56348059 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006928.3 -1 validated p.R642H 0.000 152 0% 151 33.8% - - benign(0.003) tolerated(0.14) neutral(0.249) NULL RAB5B 5869 genome.wustl.edu 37 12 56380820 56380820 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002868.2 +1 validated p.L26 1.000 87 0% 88 37.5% - - - - - HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases ERBB3 2065 genome.wustl.edu 37 12 56495472 56495472 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001982.2 +1 reviewed p.G1221D 1.000 82 0% 83 12% - - possibly_damaging(0.647) deleterious(0.01) deleterious(0.633) NULL SMARCC2 6601 genome.wustl.edu 37 12 56558156 56558156 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003075.3 -1 reviewed p.A1167S 1.000 40 0% 68 35.3% - - unknown(0) deleterious(0) - NULL RNF41 10193 genome.wustl.edu 37 12 56600253 56600253 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005785.2 -1 reviewed p.A311V 1.000 55 0% 45 40% - - probably_damaging(1) tolerated(0.74) deleterious(0.501) HMMPfam_USP8_interact PAN2 9924 genome.wustl.edu 37 12 56715945 56715945 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001127460.2 -1 reviewed p.A906D 1.000 119 0% 118 33.1% - - probably_damaging(0.971) deleterious(0) deleterious(0.857) HMMPfam_UCH,superfamily_Cysteine proteinases PAN2 9924 genome.wustl.edu 37 12 56718411 56718411 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001127460.2 -1 reviewed p.G561D 1.000 77 0% 87 44.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UCH,superfamily_Cysteine proteinases PAN2 9924 genome.wustl.edu 37 12 56719124 56719124 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001127460.2 -1 reviewed p.R492C 1.000 77 0% 106 28.3% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL IL23A 51561 genome.wustl.edu 37 12 56733569 56733569 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016584.2 +1 reviewed p.S119N 0.921 124 0% 89 36% - - benign(0.002) tolerated(0.09) neutral(0.296) HMMPfam_IL6,superfamily_4_helix_cytokine TIMELESS 8914 genome.wustl.edu 37 12 56822755 56822755 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003920.3 -1 validated p.R406C 1.000 123 0% 81 37% - - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL BAZ2A 11176 genome.wustl.edu 37 12 56995022 56995022 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013449.3 -1 validated p.F1414L 1.000 108 0% 125 34.4% - - benign(0.032) tolerated(0.75) neutral(0.003) HMMPfam_AT_hook,HMMSmart_SM00384 NACA 4666 genome.wustl.edu 37 12 57110722 57110722 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001113203.1 -1 validated p.A1531V 0.000 31 0% 30 26.7% - - probably_damaging(0.965) - - NULL ZBTB39 9880 genome.wustl.edu 37 12 57397202 57397202 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014830.1 -1 provisional p.L500 0.998 42 0% 54 40.7% - - - - - HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers MYO1A 4640 genome.wustl.edu 37 12 57430796 57430796 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005379.2 -1 reviewed p.R712H 1.000 130 0% 105 40% - - possibly_damaging(0.482) tolerated(0.56) neutral(0.167) HMMPfam_IQ,HMMSmart_IQ,superfamily_SSF52540 MYO1A 4640 genome.wustl.edu 37 12 57441502 57441502 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005379.2 -1 reviewed p.Y78 0.993 14 0% 15 53.3% - - - - - HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 STAT6 6778 genome.wustl.edu 37 12 57498946 57498946 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003153.4 -1 reviewed p.P330H 0.202 40 0% 48 47.9% - - benign(0.313) tolerated(0.1) neutral(0.384) superfamily_p53-like transcription factors,HMMPfam_STAT_bind LRP1 4035 genome.wustl.edu 37 12 57539021 57539021 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002332.2 +1 reviewed p.R197W 1.000 41 0% 45 22.2% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL LRP1 4035 genome.wustl.edu 37 12 57552188 57552188 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002332.2 +1 reviewed p.P522L 0.997 71 0% 121 33.1% - - probably_damaging(0.982) tolerated(0.3) neutral(0.455) NULL LRP1 4035 genome.wustl.edu 37 12 57563003 57563003 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002332.2 +1 reviewed p.R1026C 0.998 19 0% 41 46.3% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Ldl_recept_a,HMMSmart_SM00192,superfamily_LDL receptor-like module LRP1 4035 genome.wustl.edu 37 12 57579503 57579503 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002332.2 +1 reviewed p.R2218H 1.000 40 0% 90 48.9% - - benign(0.396) tolerated(0.15) neutral(0.368) superfamily_YWTD domain LRP1 4035 genome.wustl.edu 37 12 57587358 57587358 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002332.2 +1 reviewed p.R2565H 1.000 41 0% 66 13.6% - - benign(0.001) tolerated(0.2) neutral(0.049) HMMPfam_Ldl_recept_a,HMMSmart_SM00192,superfamily_LDL receptor-like module,superfamily_YWTD domain LRP1 4035 genome.wustl.edu 37 12 57594275 57594275 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002332.2 +1 reviewed p.T3355 0.002 26 0% 40 30% - - - - - HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1 LRP1 4035 genome.wustl.edu 37 12 57605736 57605736 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002332.2 +1 reviewed p.L4429 0.279 302 0% 545 28.1% - - - - - NULL R3HDM2 22864 genome.wustl.edu 37 12 57663127 57663127 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014925.3 -1 validated p.P551S 1.000 172 0% 103 35% - - possibly_damaging(0.461) deleterious(0.01) deleterious(0.556) NULL KIF5A 3798 genome.wustl.edu 37 12 57963139 57963139 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004984.2 +1 reviewed p.S307Y 1.000 48 0% 42 40.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases B4GALNT1 2583 genome.wustl.edu 37 12 58020745 58020745 + Splice_Site SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001478.3 -1 reviewed e10-1 1.000 47 0% 77 40.3% - - - - - - B4GALNT1 2583 genome.wustl.edu 37 12 58024024 58024024 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001478.3 -1 reviewed p.L208R 0.971 96 0% 192 40.6% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL AGAP2 116986 genome.wustl.edu 37 12 58122156 58122156 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001122772.1 -1 validated p.K854 1.000 51 0% 100 43% - - - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like AGAP2 116986 genome.wustl.edu 37 12 58125203 58125203 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001122772.1 -1 validated p.K697N 1.000 101 1% 174 32.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like METTL1 4234 genome.wustl.edu 37 12 58163106 58163106 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005371.5 -1 reviewed p.R219C 1.000 71 0% 104 33.7% - - probably_damaging(0.983) deleterious(0) deleterious(0.873) HMMPfam_Methyltransf_4 METTL1 4234 genome.wustl.edu 37 12 58163701 58163701 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005371.5 -1 reviewed p.G105S 1.000 58 0% 88 40.9% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Methyltransf_4,superfamily_SSF53335 AVIL 10677 genome.wustl.edu 37 12 58197122 58197122 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006576.3 -1 reviewed p.K624E 0.998 157 0% 99 40.4% - - benign(0.419) deleterious(0.03) deleterious(0.500) HMMSmart_SM00262,superfamily_Actin depolymerizing proteins LRIG3 121227 genome.wustl.edu 37 12 59284509 59284509 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153377.3 -1 provisional p.D151 1.000 158 0% 31 19.4% - - - - - HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00365,superfamily_RNI-like SLC16A7 9194 genome.wustl.edu 37 12 60098729 60098729 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004731.3 +1 provisional p.Q49H 0.394 102 0% 21 28.6% - - benign(0.019) tolerated(0.17) neutral(0.060) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter MON2 23041 genome.wustl.edu 37 12 62930999 62930999 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015026.2 +1 validated p.A657T 1.000 152 0% 44 27.3% - - possibly_damaging(0.932) deleterious(0.01) deleterious(0.784) NULL PPM1H 57460 genome.wustl.edu 37 12 63195889 63195889 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020700.1 -1 validated p.G155R 1.000 4 0.000 10 0.500 - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00332,superfamily_Protein serine/threonine phosphatase 2C catalytic domain ENSG00000250314 0 genome.wustl.edu 37 12 63397985 63397985 + RNA SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000514535 -1 known NULL 1.000 114 0% 126 33.3% - - - - - - TMEM5 10329 genome.wustl.edu 37 12 64174871 64174871 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014254.1 +1 provisional p.F81C 0.987 116 0% 179 38.5% - - benign(0.072) tolerated(0.09) neutral(0.301) NULL SRGAP1 57522 genome.wustl.edu 37 12 64505575 64505575 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020762.2 +1 validated p.D651 1.000 141 0% 69 33.3% - - - - - HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP XPOT 11260 genome.wustl.edu 37 12 64808716 64808716 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007235.3 +1 reviewed p.I30M 1.000 153 0% 77 33.8% - - benign(0.046) tolerated(0.11) neutral(0.274) superfamily_ARM-type_fold TBK1 29110 genome.wustl.edu 37 12 64889478 64889478 + Splice_Site SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013254.2 +1 reviewed e14-1 1.000 90 0% 58 12.1% - - - - - - TBK1 29110 genome.wustl.edu 37 12 64895146 64895146 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013254.2 +1 reviewed p.N725 0.997 242 0% 124 37.1% - - - - - NULL HELB 92797 genome.wustl.edu 37 12 66703640 66703640 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033647.2 +1 reviewed p.T311I 0.999 115 0% 55 38.2% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL HELB 92797 genome.wustl.edu 37 12 66703855 66703855 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033647.2 +1 reviewed p.E383K 0.005 108 0.9% 44 38.6% - - benign(0) tolerated(1) - NULL HELB 92797 genome.wustl.edu 37 12 66731874 66731874 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033647.2 +1 reviewed p.E1086* 0.069 112 0% 31 51.6% - - - - - NULL GRIP1 23426 genome.wustl.edu 37 12 66742822 66742822 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021150.3 -1 reviewed p.R1070* 0.885 290 0% 133 33.8% - - - - - NULL GRIP1 23426 genome.wustl.edu 37 12 66859188 66859188 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021150.3 -1 reviewed p.A247T 1.000 65 0% 25 40% - - possibly_damaging(0.714) deleterious(0.01) deleterious(0.663) superfamily_PDZ domain-like RAP1B 5908 genome.wustl.edu 37 12 69042543 69042543 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001010942.1 +1 validated p.G13 0.183 205 0% 131 36.6% - - - - - HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases MDM2 4193 genome.wustl.edu 37 12 69230501 69230501 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002392.3 +1 reviewed p.F297S 1.000 162 0% 100 39% - - benign(0.024) deleterious(0.01) neutral(0.407) NULL RAB3IP 117177 genome.wustl.edu 37 12 70206610 70206610 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_175623.2 +1 validated p.G411R 1.000 153 0% 151 33.1% - - probably_damaging(0.993) deleterious(0) deleterious(0.895) NULL CNOT2 4848 genome.wustl.edu 37 12 70724238 70724238 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014515.4 +1 provisional p.F186 1.000 115 0% 16 50% - - - - - NULL ENSG00000246966 0 genome.wustl.edu 37 12 70931897 70931897 + RNA SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000501222 +1 known NULL 0.039 139 0% 51 39.2% - - - - - - PTPRR 5801 genome.wustl.edu 37 12 71139848 71139848 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002849.2 -1 reviewed p.E253* 1.000 228 0% 54 37% - - - - - NULL ZFC3H1 196441 genome.wustl.edu 37 12 72020148 72020148 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144982.4 -1 validated p.I1403M 1.000 165 0% 55 43.6% - - probably_damaging(0.959) deleterious(0.01) deleterious(0.808) HMMSmart_SM00386,superfamily_Protein prenylyltransferase TMEM19 55266 genome.wustl.edu 37 12 72080518 72080518 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018279.3 +1 validated p.V20F 0.990 131 0% 184 35.3% - - possibly_damaging(0.775) deleterious(0.03) deleterious(0.653) NULL TBC1D15 64786 genome.wustl.edu 37 12 72278647 72278647 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022771.4 +1 reviewed p.D134N 1.000 269 0% 75 34.7% - - probably_damaging(0.975) deleterious(0.03) deleterious(0.781) NULL TBC1D15 64786 genome.wustl.edu 37 12 72288550 72288550 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022771.4 +1 reviewed p.D265N 1.000 102 0% 28 21.4% - - benign(0.102) tolerated(0.5) neutral(0.018) NULL TRHDE 29953 genome.wustl.edu 37 12 72936115 72936115 + Silent SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013381.2 +1 reviewed p.S544 1.000 288 0% 51 41.2% - - - - - superfamily_SSF55486 KCNC2 3747 genome.wustl.edu 37 12 75444534 75444534 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_139137.2 -1 reviewed p.E417 0.898 62 0% 14 35.7% - - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels KRR1 11103 genome.wustl.edu 37 12 75905293 75905293 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007043.6 -1 validated p.D29Y 1.000 125 0% 43 11.6% - - possibly_damaging(0.847) deleterious(0) deleterious(0.770) NULL PHLDA1 22822 genome.wustl.edu 37 12 76424548 76424548 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007350.3 -1 reviewed p.P325H 0.980 128 0.8% 249 35.3% - - unknown(0) deleterious(0.01) - NULL SYT1 6857 genome.wustl.edu 37 12 79679602 79679602 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001135805.1 +1 validated p.A68T 1.000 328 0% 85 28.2% - - benign(0.1) tolerated(0.25) neutral(0.044) NULL PPP1R12A 4659 genome.wustl.edu 37 12 80190985 80190985 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001143885.1 -1 reviewed p.T761M 1.000 577 0% 177 37.9% - - probably_damaging(0.989) deleterious(0) deleterious(0.884) NULL OTOGL 283310 genome.wustl.edu 37 12 80632651 80632651 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002343203.1 +1 model p.A221T 1.000 73 0% 38 31.6% - - benign(0.167) tolerated(0.3) neutral(0.043) NULL MYF6 4618 genome.wustl.edu 37 12 81101837 81101837 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002469.2 +1 reviewed p.F113 1.000 36 0% 66 37.9% - - - - - HMMPfam_HLH,HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain LIN7A 8825 genome.wustl.edu 37 12 81242057 81242057 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004664.2 -1 validated p.P82 0.001 127 0% 40 42.5% - - - - - HMMSmart_SM00569,HMMPfam_L27 PPFIA2 8499 genome.wustl.edu 37 12 81768417 81768417 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003625.2 -1 reviewed p.T421I 1.000 131 0% 25 24% - - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL CCDC59 29080 genome.wustl.edu 37 12 82750941 82750941 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014167.4 -1 validated p.R88* 0.448 299 0% 282 36.5% - - - - - NULL TMTC2 160335 genome.wustl.edu 37 12 83250987 83250987 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152588.1 +1 provisional p.L94 0.996 142 0% 95 43.2% - - - - - NULL TSPAN19 144448 genome.wustl.edu 37 12 85408290 85408290 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001100917.1 -1 validated p.K241 0.998 123 0% 19 31.6% - - - - - NULL TSPAN19 144448 genome.wustl.edu 37 12 85421700 85421700 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001100917.1 -1 validated p.E81K 0.013 133 0% 36 44.4% - - benign(0.001) tolerated(0.63) neutral(0.004) HMMPfam_Tetraspannin LRRIQ1 84125 genome.wustl.edu 37 12 85441275 85441275 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000393212 +1 known p.I235M 0.000 48 0% 28 39.3% - - - - - NULL LRRIQ1 84125 genome.wustl.edu 37 12 85449556 85449556 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001079910.1 +1 validated p.R329* 0.018 96 0% 44 25% - - - - - superfamily_RNI-like LRRIQ1 84125 genome.wustl.edu 37 12 85449786 85449786 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001079910.1 +1 validated p.Y405 0.000 55 0% 31 32.3% - - - - - superfamily_RNI-like LRRIQ1 84125 genome.wustl.edu 37 12 85515614 85515614 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001079910.1 +1 validated p.E1173* 0.970 98 0% 54 31.5% - - - - - NULL MGAT4C 25834 genome.wustl.edu 37 12 86373201 86373201 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013244.3 -1 validated p.F435V 1.000 96 0% 20 50% - - possibly_damaging(0.612) deleterious(0.04) deleterious(0.561) NULL CEP290 80184 genome.wustl.edu 37 12 88452773 88452773 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025114.3 -1 reviewed p.R2224W 0.941 225 0% 67 38.8% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ATP2B1 490 genome.wustl.edu 37 12 89992420 89992420 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001001323.1 -1 reviewed p.S1151Y 1.000 128 0% 38 42.1% - - benign(0.071) deleterious(0.01) neutral(0.411) NULL ATP2B1 490 genome.wustl.edu 37 12 90010804 90010804 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001682.2 -1 reviewed p.I614 1.000 236 0% 57 31.6% - - - - - HMMPfam_Hydrolase,superfamily_SSF56784,superfamily_SSF81660,superfamily_SSF81665 C12orf12 196477 genome.wustl.edu 37 12 91347869 91347869 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152638.2 -1 predicted p.Q217H 0.998 72 0% 126 42.9% - - unknown(0) tolerated(0.47) - NULL PLEKHG7 440107 genome.wustl.edu 37 12 93147945 93147945 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001004330.2 +1 validated p.Y132C 1.000 110 0% 38 34.2% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_RhoGEF,superfamily_DH-domain PLEKHG7 440107 genome.wustl.edu 37 12 93150152 93150152 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001004330.2 +1 validated p.K229Q 1.000 73 0% 28 35.7% - - benign(0.183) tolerated(0.5) neutral(0.027) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 PLXNC1 10154 genome.wustl.edu 37 12 94543431 94543431 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005761.1 +1 provisional p.G228 0.000 33 0% 52 36.5% - - - - - superfamily_Sema PLXNC1 10154 genome.wustl.edu 37 12 94603399 94603399 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005761.1 +1 provisional p.E491D 0.000 187 0% 134 39.6% - - benign(0) tolerated(1) - HMMPfam_PSI,HMMSmart_PSI,superfamily_Plexin-like_fold PLXNC1 10154 genome.wustl.edu 37 12 94648590 94648590 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005761.1 +1 provisional p.S970L 0.999 35 0% 31 48.4% - - probably_damaging(0.98) deleterious(0) deleterious(0.869) NULL CCDC41 51134 genome.wustl.edu 37 12 94703807 94703807 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001042399.1 -1 validated p.R630* 1.000 245 0% 40 30% - - - - - NULL CCDC41 51134 genome.wustl.edu 37 12 94769713 94769713 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001042399.1 -1 validated p.L294F 0.988 184 0% 32 46.9% - - probably_damaging(1) tolerated(0.09) deleterious(0.796) NULL RBMS2P1 643427 genome.wustl.edu 37 12 94818211 94818211 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000393113 -1 known p.G148 1.000 115 0% 58 41.4% - - - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD NR2C1 7181 genome.wustl.edu 37 12 95456349 95456349 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003297.2 -1 reviewed p.P74S 1.000 178 0% 141 39.7% - - benign(0.018) tolerated(0.42) neutral(0.015) NULL VEZT 55591 genome.wustl.edu 37 12 95660316 95660316 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017599.3 +1 validated p.D206 0.998 218 0% 121 28.1% - - - - - NULL USP44 84101 genome.wustl.edu 37 12 95927124 95927124 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001042403.1 -1 validated p.K303N 0.999 114 0% 62 16.1% - - benign(0.008) tolerated(0.61) neutral(0.004) HMMPfam_UCH,superfamily_Cysteine proteinases USP44 84101 genome.wustl.edu 37 12 95927822 95927822 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001042403.1 -1 validated p.E71K 1.000 184 0% 97 41.2% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_zf-UBP,HMMSmart_SM00290 USP44 84101 genome.wustl.edu 37 12 95927893 95927893 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001042403.1 -1 validated p.V47A 1.000 156 0% 65 16.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-UBP,HMMSmart_SM00290 ELK3 2004 genome.wustl.edu 37 12 96640822 96640822 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005230.2 +1 reviewed p.S104 0.992 92 0% 130 30% - - - - - "superfamily_""Winged helix"" DNA-binding domain" LOC121456 121456 genome.wustl.edu 37 12 98848821 98848821 + RNA SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XR_016411.2 -1 model NULL 0.182 70 0% 58 29.3% - - - - - - ENSG00000227825 0 genome.wustl.edu 37 12 98849734 98849734 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000370696 -1 known p.G55E 0.972 140 0% 161 28.6% - - - - - HMMPfam_Na_H_Exchanger TMPO 7112 genome.wustl.edu 37 12 98941420 98941420 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001032283.2 +1 reviewed p.E383D 0.994 126 0% 112 35.7% - - possibly_damaging(0.77) tolerated(0.65) neutral(0.289) NULL APAF1 317 genome.wustl.edu 37 12 99060022 99060022 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_181861.1 +1 reviewed p.E417K 1.000 261 0% 148 31.8% - - probably_damaging(0.97) deleterious(0) deleterious(0.857) superfamily_WD40 repeat-like UHRF1BP1L 23074 genome.wustl.edu 37 12 100452812 100452812 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015054.1 -1 validated p.S748Y 0.217 116 0% 58 36.2% - - benign(0.063) tolerated(0.1) neutral(0.290) NULL UHRF1BP1L 23074 genome.wustl.edu 37 12 100452915 100452915 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015054.1 -1 validated p.R714W 1.000 120 0% 82 35.4% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL GOLGA2P5 55592 genome.wustl.edu 37 12 100551442 100551442 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017600.1 -1 provisional p.T52A 0.005 21 0% 39 38.5% - - - - - NULL GOLGA2P5 55592 genome.wustl.edu 37 12 100562730 100562730 + RNA SNP C C T rs185446879 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NR_024261.1 -1 validated NULL 0.117 204 1% 135 42.2% - - - - - - UTP20 27340 genome.wustl.edu 37 12 101705569 101705569 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014503.2 +1 validated p.T768 0.023 121 0% 67 43.3% - - - - - superfamily_ARM repeat UTP20 27340 genome.wustl.edu 37 12 101736293 101736293 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014503.2 +1 validated p.L1391I 1.000 135 0% 66 40.9% - - possibly_damaging(0.866) tolerated(0.29) neutral(0.365) superfamily_ARM repeat SPIC 121599 genome.wustl.edu 37 12 101871414 101871414 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152323.1 +1 provisional p.L28I 0.000 129 0% 75 30.7% - - benign(0.086) tolerated(0.45) neutral(0.018) NULL GNPTAB 79158 genome.wustl.edu 37 12 102141004 102141004 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024312.4 -1 reviewed p.R1237W 1.000 225 0% 124 36.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL STAB2 55576 genome.wustl.edu 37 12 104078780 104078780 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017564.9 +1 reviewed p.S972Y 0.000 348 0% 259 29.7% - - benign(0) tolerated(1) - superfamily_BIgH3_FAS1,HMMSmart_EGF STAB2 55576 genome.wustl.edu 37 12 104118761 104118761 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017564.9 +1 reviewed p.G1564 0.562 92 0% 37 45.9% - - - - - HMMSmart_EGF,superfamily_SSF57196 TDG 6996 genome.wustl.edu 37 12 104380733 104380733 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003211.4 +1 reviewed p.S366 0.005 267 0% 105 18.1% - - - - - NULL SLC41A2 84102 genome.wustl.edu 37 12 105199022 105199022 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032148.3 -1 validated p.A544T 1.000 131 0% 25 20% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MgtE SLC41A2 84102 genome.wustl.edu 37 12 105321773 105321773 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032148.3 -1 validated p.G178D 1.000 165 0% 129 26.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL KIAA1033 23325 genome.wustl.edu 37 12 105520953 105520953 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015275.1 +1 validated p.N362T 0.999 102 0% 77 33.8% - - benign(0) tolerated(0.17) neutral(0.059) NULL KIAA1033 23325 genome.wustl.edu 37 12 105553780 105553780 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015275.1 +1 validated p.H972Y 1.000 52 0% 16 37.5% - - benign(0.012) tolerated(1) neutral(0.001) NULL POLR3B 55703 genome.wustl.edu 37 12 106903245 106903245 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018082.5 +1 validated p.P1107L 1.000 104 0% 67 46.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RNA_pol_Rpb2_7,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase MTERFD3 80298 genome.wustl.edu 37 12 107371357 107371357 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001033050.1 -1 validated p.A379E 1.000 138 0% 97 36.1% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL PWP1 11137 genome.wustl.edu 37 12 108102718 108102718 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007062.1 +1 provisional p.G365S 1.000 262 0% 59 23.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320,superfamily_WD40 repeat-like ASCL4 121549 genome.wustl.edu 37 12 108169146 108169146 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_203436.2 +1 validated p.R52C 0.000 11 0% 17 58.8% - - probably_damaging(0.988) deleterious(0.02) deleterious(0.821) NULL SART3 9733 genome.wustl.edu 37 12 108920130 108920130 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014706.3 -1 reviewed p.V706I 0.994 70 0% 75 36% - - unknown(0) - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD ISCU 23479 genome.wustl.edu 37 12 108962609 108962609 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_213595.2 +1 reviewed p.L141M 1.000 143 0% 100 36% - - probably_damaging(0.981) deleterious(0) deleterious(0.870) HMMPfam_NifU_N,superfamily_SufE/NifU SELPLG 6404 genome.wustl.edu 37 12 109016915 109016915 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003006.3 -1 reviewed p.P380L 0.000 38 0% 55 27.3% - - benign(0.117) tolerated(0.08) neutral(0.309) NULL CORO1C 23603 genome.wustl.edu 37 12 109046161 109046161 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014325.2 -1 reviewed p.T296 0.996 190 0% 228 37.7% - - - - - superfamily_WD40 repeat-like,HMMPfam_DUF1900 SSH1 54434 genome.wustl.edu 37 12 109198957 109198957 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018984.3 -1 validated p.R277C 1.000 130 0% 118 33.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DEK_C,superfamily_DEK C-terminal domain SSH1 54434 genome.wustl.edu 37 12 109210899 109210899 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018984.3 -1 validated p.R106W 0.975 66 0% 106 36.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL DAO 1610 genome.wustl.edu 37 12 109286782 109286782 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001917.4 +1 reviewed p.F159L 1.000 447 0% 303 39.9% - - benign(0.077) tolerated(0.34) neutral(0.028) HMMPfam_DAO,superfamily_Nucleotide-binding domain SVOP 55530 genome.wustl.edu 37 12 109316565 109316565 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018711.2 -1 validated p.S292L 0.009 124 0% 70 32.9% - - possibly_damaging(0.683) deleterious(0.02) deleterious(0.627) NULL ACACB 32 genome.wustl.edu 37 12 109661652 109661652 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001093.3 +1 reviewed p.D1275 0.124 188 0% 225 35.1% - - - - - HMMPfam_ACC_central ACACB 32 genome.wustl.edu 37 12 109665276 109665276 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001093.3 +1 reviewed p.P1328L 1.000 23 0% 40 45% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_ACC_central ACACB 32 genome.wustl.edu 37 12 109703061 109703061 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001093.3 +1 reviewed p.F2363 0.997 46 0% 56 16.1% - - - - - NULL MYO1H 283446 genome.wustl.edu 37 12 109826589 109826589 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001101421.3 +1 provisional p.Y22 0.997 109 0% 56 28.6% - - - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO1H 283446 genome.wustl.edu 37 12 109870711 109870711 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001101421.3 +1 provisional p.S647 0.704 71 0% 47 51.1% - - - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases UBE3B 89910 genome.wustl.edu 37 12 109936071 109936071 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_130466.2 +1 reviewed p.R285C 1.000 219 0% 104 34.6% - - probably_damaging(0.996) deleterious(0.03) deleterious(0.826) NULL UBE3B 89910 genome.wustl.edu 37 12 109939239 109939239 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_130466.2 +1 reviewed p.I394 1.000 126 0% 63 41.3% - - - - - NULL C12orf34 84915 genome.wustl.edu 37 12 110205947 110205947 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032829.2 +1 validated p.Q71H 1.000 29 0% 67 28.4% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL C12orf34 84915 genome.wustl.edu 37 12 110206322 110206322 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032829.2 +1 validated p.L196 1.000 5 0.000 12 0.583 - - - - - NULL TRPV4 59341 genome.wustl.edu 37 12 110252352 110252352 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021625.4 -1 reviewed p.D84N 1.000 46 0% 59 33.9% - - possibly_damaging(0.608) deleterious(0) deleterious(0.655) NULL GIT2 9815 genome.wustl.edu 37 12 110383073 110383073 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_057169.3 -1 reviewed p.A575T 0.869 54 3.7% 46 37% - - benign(0.001) tolerated(0.59) neutral(0.004) NULL ATP2A2 488 genome.wustl.edu 37 12 110778800 110778800 + Splice_Site SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_170665.3 +1 reviewed e14+1 1.000 44 0% 25 32% - - - - - - ANAPC7 51434 genome.wustl.edu 37 12 110813874 110813874 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016238.2 -1 reviewed p.L536P 1.000 87 0% 64 53.1% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like ANAPC7 51434 genome.wustl.edu 37 12 110813971 110813971 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000452721 -1 known p.W496* 1.000 119 0% 76 38.2% - - benign(0.075) tolerated(0.55) neutral(0.012) HMMSmart_SM00028,superfamily_TPR-like VPS29 51699 genome.wustl.edu 37 12 110930838 110930838 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_057180.1 -1 reviewed p.P136T 1.000 186 0% 119 29.4% - - probably_damaging(0.982) deleterious(0.01) deleterious(0.832) superfamily_SSF56300 TCTN1 79600 genome.wustl.edu 37 12 111082930 111082930 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001082538.2 +1 reviewed p.R497M 0.003 34 0% 30 43.3% - - unknown(0) - - NULL CCDC63 160762 genome.wustl.edu 37 12 111322047 111322047 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152591.1 +1 provisional p.R356Q 0.003 97 0% 64 34.4% - - possibly_damaging(0.948) tolerated(0.31) neutral(0.418) NULL CCDC63 160762 genome.wustl.edu 37 12 111336736 111336736 + Splice_Site SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152591.1 +1 provisional e9-1 1.000 76 0% 49 16.3% - - - - - - CUX2 23316 genome.wustl.edu 37 12 111785566 111785566 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015267.3 +1 validated p.Q1300* 1.000 39 0% 73 34.2% - - - - - NULL ACAD10 80724 genome.wustl.edu 37 12 112159506 112159506 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001136538.1 +1 reviewed p.P373S 0.999 189 0% 322 13.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_APH,superfamily_Protein kinase-like (PK-like) NAA25 80018 genome.wustl.edu 37 12 112528621 112528621 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024953.3 -1 reviewed p.A64 0.256 110 0% 55 12.7% - - - - - superfamily_TPR-like TRAFD1 10906 genome.wustl.edu 37 12 112590287 112590287 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001143906.1 +1 validated p.R559H 0.977 173 0% 142 10.6% - - benign(0.066) tolerated(0.23) neutral(0.046) NULL C12orf51 283450 genome.wustl.edu 37 12 112628631 112628631 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001109662.2 -1 validated p.T2722I 1.000 47 0% 72 27.8% - - possibly_damaging(0.746) - - NULL C12orf51 283450 genome.wustl.edu 37 12 112688153 112688153 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001109662.2 -1 validated p.V827M 1.000 52 0% 21 57.1% - - probably_damaging(0.991) - - NULL C12orf51 283450 genome.wustl.edu 37 12 112694253 112694253 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000311694 -1 known p.E529G 0.867 85 0% 45 40% - - - - - NULL C12orf51 283450 genome.wustl.edu 37 12 112697034 112697034 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001109662.2 -1 validated p.M538T 1.000 119 0% 37 16.2% - - benign(0.026) deleterious(0.03) neutral(0.365) NULL RPL6 6128 genome.wustl.edu 37 12 112843140 112843140 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000970.3 -1 reviewed p.A252D 1.000 27 0% 30 30% - - benign(0.118) tolerated(0.32) neutral(0.034) HMMPfam_Ribosomal_L6e OAS1 4938 genome.wustl.edu 37 12 113346400 113346400 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001032409.1 +1 reviewed p.V80 1.000 83 0% 60 43.3% - - - - - PatternScan_25A_SYNTH_1,superfamily_Nucleotidyltransferase OAS3 4940 genome.wustl.edu 37 12 113379475 113379475 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006187.2 +1 reviewed p.R93L 0.000 96 0% 132 32.6% - - benign(0) tolerated(0.15) neutral(0.241) superfamily_Nucleotidyltransferase LOC100287897 100287897 genome.wustl.edu 37 12 113405402 113405402 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002343215.1 -1 model p.R3Q 0.003 52 0% 33 27.3% - - - - - NULL OAS2 4939 genome.wustl.edu 37 12 113436093 113436093 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016817.2 +1 reviewed p.D296Y 0.832 135 0% 58 37.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_25A_SYNTH_2,HMMPfam_OAS1_C,superfamily_PAP/OAS1 substrate-binding domain RASAL1 8437 genome.wustl.edu 37 12 113543593 113543593 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004658.1 -1 reviewed p.R585C 0.997 34 0% 70 12.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PH,HMMSmart_SM00233,HMMSmart_SM00323,superfamily_GTPase activation domain GAP,superfamily_PH domain-like DDX54 79039 genome.wustl.edu 37 12 113618745 113618745 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001111322.1 -1 reviewed p.F98S 1.000 47 0% 107 35.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases TPCN1 53373 genome.wustl.edu 37 12 113722564 113722564 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001143819.1 +1 validated p.V553I 1.000 240 0% 343 41.1% - - benign(0.002) tolerated(0.78) neutral(0.001) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels TPCN1 53373 genome.wustl.edu 37 12 113724871 113724871 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001143819.1 +1 validated p.V608M 1.000 51 0% 89 37.1% - - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SLC24A6 80024 genome.wustl.edu 37 12 113737727 113737727 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024959.2 -1 validated p.S537N 1.000 45 0% 62 41.9% - - probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_Na_Ca_ex SLC24A6 80024 genome.wustl.edu 37 12 113737766 113737766 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024959.2 -1 validated p.G524E 0.992 39 0% 64 34.4% - - benign(0.383) tolerated(0.58) neutral(0.128) HMMPfam_Na_Ca_ex LOC100287933 100287933 genome.wustl.edu 37 12 113906261 113906261 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002343216.1 +1 model p.R276H 0.000 29 0% 58 34.5% - - - - - NULL RBM19 9904 genome.wustl.edu 37 12 114380179 114380179 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016196.3 -1 reviewed p.V563M 0.555 29 0% 36 38.9% - - benign(0.02) tolerated(0.65) neutral(0.004) NULL RBM19 9904 genome.wustl.edu 37 12 114384226 114384226 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016196.3 -1 reviewed p.A488T 0.000 117 0% 122 25.4% - - benign(0) tolerated(0.58) neutral(0.005) NULL TBX5 6910 genome.wustl.edu 37 12 114832700 114832700 + Splice_Site SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000192.3 -1 reviewed e5-2 1.000 83 0% 126 34.9% - - - - - - MED13L 23389 genome.wustl.edu 37 12 116421304 116421304 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015335.3 -1 validated p.I1525V 0.997 169 0% 52 28.8% - - unknown(0) tolerated(0.4) - HMMPfam_TRAP_240kDa MED13L 23389 genome.wustl.edu 37 12 116444209 116444209 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015335.3 -1 validated p.D749G 1.000 106 0% 23 30.4% - - probably_damaging(0.979) deleterious(0.04) deleterious(0.771) NULL FBXW8 26259 genome.wustl.edu 37 12 117465251 117465251 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153348.2 +1 reviewed p.V532M 1.000 48 0% 92 39.1% - - probably_damaging(0.984) deleterious(0.03) deleterious(0.795) superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase FBXW8 26259 genome.wustl.edu 37 12 117465865 117465865 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153348.2 +1 reviewed p.A562V 0.996 59 0% 74 32.4% - - benign(0.019) tolerated(0.24) neutral(0.038) superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase NOS1 4842 genome.wustl.edu 37 12 117691504 117691504 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000620.2 -1 reviewed p.S863P 0.999 116 0% 66 31.8% - - probably_damaging(0.978) tolerated(0.18) deleterious(0.476) HMMPfam_Flavodoxin_1,superfamily_Flavoproteins KSR2 283455 genome.wustl.edu 37 12 118298113 118298113 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173598.4 -1 validated p.R73C 1.000 27 0% 42 42.9% - - possibly_damaging(0.936) deleterious(0.03) deleterious(0.746) NULL KSR2 283455 genome.wustl.edu 37 12 118405936 118405936 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173598.4 -1 validated p.R13M 1.000 158 0% 293 42% - - possibly_damaging(0.649) deleterious(0) deleterious(0.672) NULL CCDC60 160777 genome.wustl.edu 37 12 119960800 119960800 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178499.3 +1 validated p.S366Y 0.007 188 0% 84 31% - - possibly_damaging(0.805) deleterious(0.03) deleterious(0.667) NULL CIT 11113 genome.wustl.edu 37 12 120210697 120210697 + Silent SNP C C T rs141771302 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007174.1 -1 validated p.T653 0.002 38 0% 29 44.8% - - - - - NULL CIT 11113 genome.wustl.edu 37 12 120260629 120260629 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007174.1 -1 validated p.R369H 1.000 92 0% 61 37.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00133,superfamily_Protein kinase-like (PK-like) GCN1L1 10985 genome.wustl.edu 37 12 120587831 120587831 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006836.1 -1 validated p.F1442 0.932 46 2.2% 66 34.8% - - - - - superfamily_ARM repeat GCN1L1 10985 genome.wustl.edu 37 12 120622633 120622633 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006836.1 -1 validated p.R60Q 1.000 86 0% 67 47.8% - - probably_damaging(0.992) deleterious(0.04) deleterious(0.796) superfamily_ARM repeat RNF10 9921 genome.wustl.edu 37 12 120995216 120995216 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014868.4 +1 reviewed p.T259 0.999 196 0% 123 26% - - - - - HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_RING/U-box UNC119B 84747 genome.wustl.edu 37 12 121154543 121154543 + Splice_Site SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080533.1 +1 provisional e3+1 1.000 222 0% 261 37.2% - - - - - - OASL 8638 genome.wustl.edu 37 12 121465607 121465607 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003733.2 -1 validated p.R224M 0.105 54 0% 54 42.6% - - possibly_damaging(0.91) tolerated(0.07) deleterious(0.681) HMMPfam_OAS1_C,superfamily_PAP/OAS1 substrate-binding domain CAMKK2 10645 genome.wustl.edu 37 12 121691112 121691112 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006549.3 -1 reviewed p.E357D 1.000 145 0% 84 38.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CLIP1 6249 genome.wustl.edu 37 12 122763406 122763406 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002956.2 -1 validated p.L1272 0.354 80 0% 86 40.7% - - - - - NULL CLIP1 6249 genome.wustl.edu 37 12 122773072 122773072 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002956.2 -1 validated p.S1193Y 1.000 191 0% 162 35.8% - - probably_damaging(0.99) deleterious(0.04) deleterious(0.790) NULL CLIP1 6249 genome.wustl.edu 37 12 122839719 122839719 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002956.2 -1 validated p.T382 0.844 27 0% 52 38.5% - - - - - NULL KNTC1 9735 genome.wustl.edu 37 12 123014669 123014669 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014708.4 +1 reviewed p.V20A 0.886 172 0% 121 18.2% - - benign(0.282) tolerated(0.51) neutral(0.095) NULL KNTC1 9735 genome.wustl.edu 37 12 123072260 123072260 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014708.4 +1 reviewed p.D1245Y 0.798 232 0% 237 36.7% - - benign(0.135) deleterious(0.02) neutral(0.395) NULL HIP1R 9026 genome.wustl.edu 37 12 123344622 123344622 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003959.1 +1 validated p.K832E 1.000 23 0% 40 32.5% - - possibly_damaging(0.904) deleterious(0.02) deleterious(0.742) HMMPfam_I_LWEQ,HMMSmart_ILWEQ,superfamily_SSF109885 ABCB9 23457 genome.wustl.edu 37 12 123424696 123424696 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_019625.3 -1 reviewed p.P569S 1.000 20 0% 25 28% - - benign(0.293) tolerated(0.09) neutral(0.387) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ARL6IP4 51329 genome.wustl.edu 37 12 123467050 123467050 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018694.2 +1 validated p.I331V 1.000 118 0% 263 30% - - benign(0.007) deleterious(0.04) neutral(0.349) HMMPfam_SR-25 MPHOSPH9 10198 genome.wustl.edu 37 12 123682840 123682840 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022782.2 -1 validated p.R508H 0.710 79 0% 61 31.1% - - benign(0.002) deleterious(0.01) neutral(0.406) NULL SBNO1 55206 genome.wustl.edu 37 12 123780584 123780584 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018183.3 -1 validated p.P1350 0.080 235 0% 132 28.8% - - - - - NULL SBNO1 55206 genome.wustl.edu 37 12 123801828 123801828 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018183.3 -1 validated p.R958* 1.000 159 0% 100 42% - - - - - NULL TMED2 10959 genome.wustl.edu 37 12 124071320 124071320 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006815.3 +1 validated p.I69M 0.989 111 0% 160 29.4% - - possibly_damaging(0.606) tolerated(0.16) neutral(0.269) HMMPfam_EMP24_GP25L,superfamily_Supernatant protein factor (SPF) C-terminal domain GTF2H3 2967 genome.wustl.edu 37 12 124130037 124130037 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001516.3 +1 provisional p.V43 1.000 231 0% 145 35.2% - - - - - HMMPfam_Tfb4 TCTN2 79867 genome.wustl.edu 37 12 124175196 124175196 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024809.3 +1 validated p.A336 0.000 112 0% 82 30.5% - - - - - HMMPfam_DUF1619 ATP6V0A2 23545 genome.wustl.edu 37 12 124221799 124221799 + Missense_Mutation SNP G G A rs188879714 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012463.3 +1 reviewed p.R340Q 0.000 42 0% 22 22.7% - - benign(0.002) tolerated(0.59) neutral(0.004) HMMPfam_V_ATPase_I DNAH10 196385 genome.wustl.edu 37 12 124272488 124272488 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_207437.3 +1 validated p.R459Q 1.000 50 0% 59 18.6% - - possibly_damaging(0.941) tolerated(0.24) neutral(0.424) HMMPfam_DHC_N1 DNAH10 196385 genome.wustl.edu 37 12 124335512 124335512 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_207437.3 +1 validated p.T1942 0.822 36 0% 41 31.7% - - - - - HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH10 196385 genome.wustl.edu 37 12 124401016 124401016 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_207437.3 +1 validated p.N3461D 0.997 113 0% 155 11% - - probably_damaging(0.995) deleterious(0.03) deleterious(0.822) NULL DNAH10 196385 genome.wustl.edu 37 12 124413889 124413889 + Missense_Mutation SNP A A T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_207437.3 +1 validated p.E4007V 0.991 96 0% 106 34% - - benign(0.043) tolerated(0.06) neutral(0.325) HMMPfam_Dynein_heavy DNAH10 196385 genome.wustl.edu 37 12 124416573 124416573 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_207437.3 +1 validated p.R4287K 0.998 77 0% 117 42.7% - - benign(0.032) tolerated(0.43) neutral(0.015) HMMPfam_Dynein_heavy NCOR2 9612 genome.wustl.edu 37 12 124810005 124810005 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006312.3 -1 validated p.D2503 0.953 12 0% 23 30.4% - - - - - NULL NCOR2 9612 genome.wustl.edu 37 12 124819115 124819115 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006312.3 -1 validated p.A2161T 0.004 8 0.000 24 0.375 - - benign(0.005) tolerated(0.27) neutral(0.034) NULL NCOR2 9612 genome.wustl.edu 37 12 124825248 124825248 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006312.3 -1 validated p.P1753 0.108 52 0% 163 36.8% - - - - - NULL NCOR2 9612 genome.wustl.edu 37 12 124887049 124887049 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006312.3 -1 validated p.R514H 0.995 64 0% 126 35.7% - - unknown(0) deleterious(0.01) - NULL TMEM132C 92293 genome.wustl.edu 37 12 128899514 128899514 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000435159 +1 known p.V80A 0.998 124 0% 75 34.7% - - possibly_damaging(0.753) deleterious(0) deleterious(0.721) NULL TMEM132C 92293 genome.wustl.edu 37 12 128900084 128900084 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001136103.2 +1 provisional p.S186Y 0.821 18 0% 28 39.3% - - possibly_damaging(0.795) tolerated(0.06) deleterious(0.621) NULL TMEM132C 92293 genome.wustl.edu 37 12 129180474 129180474 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001136103.2 +1 provisional p.F473 0.917 32 0% 45 40% - - - - - NULL TMEM132C 92293 genome.wustl.edu 37 12 129189956 129189956 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001136103.2 +1 provisional p.D703Y 0.976 10 0% 22 36.4% - - benign(0.241) deleterious(0.04) neutral(0.373) NULL FZD10 11211 genome.wustl.edu 37 12 130647840 130647840 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007197.2 +1 reviewed p.S118F 0.998 15 0% 32 37.5% - - possibly_damaging(0.918) deleterious(0.03) deleterious(0.733) superfamily_Frizzled_Cys-rich,HMMPfam_Fz,HMMSmart_FRI PIWIL1 9271 genome.wustl.edu 37 12 130846097 130846097 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004764.3 +1 reviewed p.R641W 0.989 216 0% 110 36.4% - - probably_damaging(0.997) deleterious(0.03) deleterious(0.831) HMMPfam_Piwi,superfamily_Ribonuclease H-like RIMBP2 23504 genome.wustl.edu 37 12 130921489 130921489 + Silent SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015347.4 -1 validated p.S651 0.164 13 0% 36 30.6% - - - - - NULL RIMBP2 23504 genome.wustl.edu 37 12 130926776 130926776 + Missense_Mutation SNP A A T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015347.4 -1 validated p.L357H 0.998 186 0% 290 12.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III GPR133 283383 genome.wustl.edu 37 12 131569119 131569119 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198827.3 +1 validated p.A528T 0.242 79 0% 113 31.9% - - benign(0.004) tolerated(0.53) neutral(0.007) HMMPfam_GPS,HMMSmart_SM00303 SFSWAP 6433 genome.wustl.edu 37 12 132281751 132281751 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004592.2 +1 reviewed p.R855W 0.972 11 0% 22 22.7% - - unknown(0) deleterious(0) - NULL MMP17 4326 genome.wustl.edu 37 12 132334525 132334525 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016155.4 +1 reviewed p.M461I 1.000 27 0% 82 29.3% - - benign(0.018) tolerated(0.21) neutral(0.044) superfamily_Hemopexin-like domain,HMMPfam_Hemopexin,HMMSmart_SM00120 ULK1 8408 genome.wustl.edu 37 12 132393773 132393773 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003565.2 +1 validated p.A219 0.205 16 0% 37 24.3% - - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ULK1 8408 genome.wustl.edu 37 12 132400462 132400462 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003565.2 +1 validated p.R546C 0.006 18 0% 64 34.4% - - probably_damaging(0.995) deleterious(0.03) deleterious(0.822) NULL PUS1 80324 genome.wustl.edu 37 12 132416847 132416847 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025215.5 +1 reviewed p.R144Q 0.950 39 0% 80 43.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PseudoU_synth_1,superfamily_Pseudouridine synthase EP400 57634 genome.wustl.edu 37 12 132445411 132445411 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015409.3 +1 validated p.V83I 1.000 20 0% 48 39.6% - - unknown(0) - - NULL EP400 57634 genome.wustl.edu 37 12 132562038 132562038 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015409.3 +1 validated p.V3063 0.128 20 0% 33 36.4% - - - - - NULL EP400NL 347918 genome.wustl.edu 37 12 132588678 132588678 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000376625 +1 known p.T38I 0.999 17 0% 26 38.5% - - unknown(0) deleterious(0) - NULL GALNT9 50614 genome.wustl.edu 37 12 132688069 132688069 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000328957 -1 known p.A415V 1.000 35 0% 69 42% - - possibly_damaging(0.697) deleterious(0) deleterious(0.695) superfamily_Nucleotide-diphospho-sugar transferases GALNT9 50614 genome.wustl.edu 37 12 132824506 132824506 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000328957 -1 known p.G345D 1.000 67 0% 113 41.6% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_Nucleotide-diphospho-sugar transferases POLE 5426 genome.wustl.edu 37 12 133210876 133210876 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006231.2 -1 validated p.A1967V 0.000 307 0% 426 32.9% - - benign(0) tolerated(0.28) neutral(0.032) NULL POLE 5426 genome.wustl.edu 37 12 133219113 133219113 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006231.2 -1 validated p.S1644L 1.000 48 0% 94 34% - - benign(0.044) deleterious(0.04) neutral(0.351) HMMPfam_DUF1744 POLE 5426 genome.wustl.edu 37 12 133234521 133234521 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006231.2 -1 validated p.T1104M 0.731 78 0% 56 39.3% - - benign(0.011) deleterious(0.01) neutral(0.406) HMMPfam_DNA_pol_B,superfamily_SSF56672 POLE 5426 genome.wustl.edu 37 12 133249857 133249857 + Missense_Mutation SNP C C G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006231.2 -1 validated p.A456P 1.000 129 0% 177 36.2% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_POLBc,superfamily_RNaseH_fold POLE 5426 genome.wustl.edu 37 12 133256229 133256229 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006231.2 -1 validated p.H144Q 1.000 81 0% 102 34.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DNA_pol_B_exo,superfamily_RNaseH_fold PGAM5 192111 genome.wustl.edu 37 12 133294633 133294633 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138575.3 +1 validated p.D216Y 1.000 27 0% 53 15.1% - - benign(0.105) tolerated(0.25) neutral(0.045) HMMPfam_PGAM,superfamily_Phosphoglycerate mutase-like GOLGA3 2802 genome.wustl.edu 37 12 133363086 133363086 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005895.3 -1 reviewed p.A988T 1.000 5 0.000 30 0.433 - - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL GOLGA3 2802 genome.wustl.edu 37 12 133378544 133378544 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005895.3 -1 reviewed p.R537* 1.000 8 0.000 13 0.462 - - - - - superfamily_Spectrin repeat GOLGA3 2802 genome.wustl.edu 37 12 133398643 133398643 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005895.3 -1 reviewed p.P24 0.000 11 0% 20 20% - - - - - NULL CHFR 55743 genome.wustl.edu 37 12 133428286 133428286 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018223.2 -1 validated p.H441 0.095 21 0% 32 18.8% - - - - - NULL LOC440122 440122 genome.wustl.edu 37 12 133696743 133696744 + RNA INS - - AAC rs144074942 TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XR_040664.1 -1 model NULL 0.001:0.010 - - - - - - - - - - LOC729535 729535 genome.wustl.edu 37 13 19271273 19271273 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_001130539.3 +1 model p.K55N 0.505 58 0% 75 29.3% - - - - - NULL TPTE2 93492 genome.wustl.edu 37 13 20012252 20012252 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_199254.2 -1 validated p.E339K 0.001 129 0% 28 39.3% - - benign(0.096) tolerated(0.3) neutral(0.036) superfamily_(Phosphotyrosine protein) phosphatases II MPHOSPH8 54737 genome.wustl.edu 37 13 20221288 20221288 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017520.3 +1 validated p.V359M 0.000 80 0% 52 42.3% - - benign(0.066) tolerated(0.08) neutral(0.304) NULL PSPC1 55269 genome.wustl.edu 37 13 20304417 20304417 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001042414.1 -1 validated p.R374* 1.000 222 0% 109 26.6% - - - - - NULL PSPC1 55269 genome.wustl.edu 37 13 20356738 20356738 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001042414.1 -1 validated p.E54* 0.903 9 0.000 33 0.273 - - - - - superfamily_RNA-binding domain RBD N6AMT2 221143 genome.wustl.edu 37 13 21303261 21303261 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_174928.1 -1 provisional p.R201 0.975 117 0% 160 35% - - - - - HMMPfam_DPPF LATS2 26524 genome.wustl.edu 37 13 21549354 21549354 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014572.2 -1 reviewed p.S974 0.000 179 0% 160 32.5% - - - - - HMMSmart_S_TK_X,superfamily_Kinase_like LATS2 26524 genome.wustl.edu 37 13 21562636 21562636 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014572.2 -1 reviewed p.A428V 0.408 8 0.000 12 0.500 - - benign(0.079) deleterious(0.01) neutral(0.411) NULL LATS2 26524 genome.wustl.edu 37 13 21562742 21562743 + Frame_Shift_Del DEL GC GC - novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 GC GC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014572.2 -1 reviewed p.H393fs 0.263:0.097 - - - - - - - - - NULL EFHA1 221154 genome.wustl.edu 37 13 22077187 22077187 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152726.2 -1 validated p.F271L 1.000 84 0% 35 45.7% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_SSF47473 SACS 26278 genome.wustl.edu 37 13 23905590 23905590 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014363.4 -1 reviewed p.K4142T 1.000 169 0% 51 51% - - probably_damaging(0.962) tolerated(0.06) deleterious(0.728) NULL SACS 26278 genome.wustl.edu 37 13 23907742 23907742 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014363.4 -1 reviewed p.K3425Q 1.000 89 1.1% 43 32.6% - - benign(0.017) tolerated(0.52) neutral(0.009) NULL SACS 26278 genome.wustl.edu 37 13 23915421 23915421 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014363.4 -1 reviewed p.K865T 1.000 179 0% 85 41.2% - - possibly_damaging(0.9) tolerated(0.08) deleterious(0.656) NULL ENSG00000205822 0 genome.wustl.edu 37 13 25155861 25155861 + Splice_Site SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000453498 +1 known NULL 0.871 80 0% 17 29.4% - - - - - - ATP12A 479 genome.wustl.edu 37 13 25274914 25274914 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001676.5 +1 reviewed p.E579K 0.097 160 0% 198 38.4% - - benign(0) tolerated(1) - HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_Calcium ATPase transmembrane domain M ATP12A 479 genome.wustl.edu 37 13 25275044 25275044 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001676.5 +1 reviewed p.R622Q 1.000 194 0.5% 240 37.9% - - probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Calcium ATPase transmembrane domain M ATP12A 479 genome.wustl.edu 37 13 25284724 25284724 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001676.5 +1 reviewed p.L964I 0.964 82 0% 99 32.3% - - benign(0.009) tolerated(0.07) neutral(0.320) HMMPfam_Cation_ATPase_C,superfamily_Calcium ATPase transmembrane domain M RNF17 56163 genome.wustl.edu 37 13 25362229 25362229 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031277.2 +1 reviewed p.A239T 1.000 56 0% 13 38.5% - - probably_damaging(0.99) deleterious(0.02) deleterious(0.825) NULL RNF17 56163 genome.wustl.edu 37 13 25428092 25428092 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031277.2 +1 reviewed p.N1140 0.677 76 0% 30 33.3% - - - - - NULL CENPJ 55835 genome.wustl.edu 37 13 25473685 25473685 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018451.3 -1 reviewed p.E955* 1.000 216 0% 185 31.4% - - - - - NULL CENPJ 55835 genome.wustl.edu 37 13 25483970 25483970 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018451.3 -1 reviewed p.E275* 0.524 91 0% 48 25% - - - - - NULL LOC100133284 100133284 genome.wustl.edu 37 13 25591715 25591715 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_001715439.1 +1 model p.E41* 1.000 99 0% 185 37.3% - - - - - HMMPfam_Striatin ATP8A2 51761 genome.wustl.edu 37 13 26413707 26413707 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016529.4 +1 validated p.N967 1.000 207 0% 114 39.5% - - - - - NULL SHISA2 387914 genome.wustl.edu 37 13 26620855 26620855 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001007538.1 -1 provisional p.N228 1.000 110 0% 152 13.2% - - - - - NULL RNF6 6049 genome.wustl.edu 37 13 26788644 26788644 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005977.3 -1 reviewed p.T459A 1.000 110 0% 61 16.4% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL USP12 219333 genome.wustl.edu 37 13 27645220 27645220 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182488.2 -1 provisional p.D333 0.994 97 0% 89 31.5% - - - - - HMMPfam_UCH,superfamily_SSF54001 RASL11A 387496 genome.wustl.edu 37 13 27847549 27847549 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_206827.1 +1 provisional p.R216H 0.989 37 0% 54 40.7% - - possibly_damaging(0.812) deleterious(0.01) deleterious(0.711) superfamily_SSF52540 LNX2 222484 genome.wustl.edu 37 13 28127508 28127508 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153371.3 -1 validated p.L539M 1.000 61 0% 23 17.4% - - possibly_damaging(0.948) tolerated(0.13) deleterious(0.643) HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ POLR1D 51082 genome.wustl.edu 37 13 28239833 28239833 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152705.1 +1 provisional p.P38S 1.000 163 0% 174 35.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL GSX1 219409 genome.wustl.edu 37 13 28367893 28367893 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_145657.1 +1 provisional p.K201 1.000 41 0% 73 28.8% - - - - - HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like,PatternScan_HOMEOBOX_1 CDX2 1045 genome.wustl.edu 37 13 28537485 28537485 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001265.3 -1 validated p.R237C 1.000 110 0% 201 14.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1 PAN3 255967 genome.wustl.edu 37 13 28854577 28854577 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_175854.7 +1 validated p.R540* 1.000 143 0% 40 42.5% - - - - - superfamily_Kinase_like FLT1 2321 genome.wustl.edu 37 13 28880850 28880850 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002019.4 -1 reviewed p.W1260C 0.999 124 0% 68 33.8% - - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL FLT1 2321 genome.wustl.edu 37 13 28903802 28903802 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002019.4 -1 reviewed p.G886D 1.000 216 0% 198 30.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,PatternScan_RECEPTOR_TYR_KIN_III,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) SLC46A3 283537 genome.wustl.edu 37 13 29287396 29287396 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001135919.1 -1 validated p.E161* 0.958 68 0% 65 49.2% - - - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter MTUS2 23281 genome.wustl.edu 37 13 30072592 30072592 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001033602.2 +1 validated p.M1249T 1.000 127 0% 122 36.1% - - possibly_damaging(0.706) deleterious(0) deleterious(0.699) NULL ALOX5AP 241 genome.wustl.edu 37 13 31318206 31318206 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001629.2 +1 reviewed p.A27V 1.000 109 0% 62 33.9% - - probably_damaging(0.972) deleterious(0.01) deleterious(0.820) HMMPfam_MAPEG C13orf33 84935 genome.wustl.edu 37 13 31498459 31498459 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032849.3 +1 validated p.D267Y 0.998 200 0% 127 37% - - possibly_damaging(0.751) deleterious(0.01) deleterious(0.681) NULL HSPH1 10808 genome.wustl.edu 37 13 31725142 31725142 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006644.2 -1 validated p.L284F 1.000 212 0% 51 37.3% - - probably_damaging(0.968) deleterious(0) deleterious(0.855) HMMPfam_HSP70,superfamily_Actin-like ATPase domain FRY 10129 genome.wustl.edu 37 13 32723927 32723927 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_023037.2 +1 validated p.L479I 1.000 218 0% 165 35.2% - - probably_damaging(1) tolerated(0.2) deleterious(0.549) NULL ZAR1L 646799 genome.wustl.edu 37 13 32885865 32885865 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001136571.1 -1 reviewed p.A66 0.047 10 0% 57 33.3% - - - - - NULL N4BP2L2 10443 genome.wustl.edu 37 13 33091964 33091964 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014887.2 -1 validated p.R576H 0.102 193 0% 65 44.6% - - benign(0) tolerated(0.35) neutral(0.021) NULL PDS5B 23047 genome.wustl.edu 37 13 33258050 33258050 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015032.3 +1 reviewed p.A365S 1.000 188 0% 44 31.8% - - benign(0.115) tolerated(0.65) neutral(0.012) superfamily_ARM repeat PDS5B 23047 genome.wustl.edu 37 13 33334730 33334730 + Silent SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015032.3 +1 reviewed p.V1130 0.998 137 0% 35 51.4% - - - - - NULL PDS5B 23047 genome.wustl.edu 37 13 33344566 33344566 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015032.3 +1 reviewed p.S1311Y 0.996 64 0% 20 35% - - benign(0.139) tolerated(0.2) neutral(0.061) NULL STARD13 90627 genome.wustl.edu 37 13 33685994 33685994 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178006.3 -1 validated p.D843G 1.000 199 0% 103 38.8% - - benign(0.054) tolerated(0.15) neutral(0.244) HMMSmart_SM00324,superfamily_GTPase activation domain GAP STARD13 90627 genome.wustl.edu 37 13 33703666 33703666 + Missense_Mutation SNP C C T rs34425674 byCluster;byFrequency;by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178006.3 -1 validated p.R383H 0.821 38 0% 64 48.4% - - benign(0) tolerated(0.57) neutral(0.006) NULL STARD13 90627 genome.wustl.edu 37 13 33704327 33704327 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178006.3 -1 validated p.L163I 0.960 43 0% 59 37.3% - - benign(0.001) tolerated(0.38) neutral(0.018) NULL NBEA 26960 genome.wustl.edu 37 13 35770201 35770201 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015678.4 +1 validated p.E1710K 0.999 97 2.1% 20 60% - - benign(0.003) tolerated(0.24) neutral(0.037) superfamily_ARM repeat NBEA 26960 genome.wustl.edu 37 13 36241613 36241613 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015678.4 +1 validated p.G2835D 1.000 151 0% 102 42.2% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_WD40 repeat-like CCDC169 728591 genome.wustl.edu 37 13 36801470 36801470 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001144984.1 -1 validated p.E98D 0.110 116 0% 33 51.5% - - benign(0.011) - - NULL SPG20 23111 genome.wustl.edu 37 13 36909288 36909288 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001142294.1 -1 reviewed p.G227V 1.000 48 0% 23 26.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SMAD9 4093 genome.wustl.edu 37 13 37453526 37453526 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001127217.2 -1 reviewed p.L101 1.000 34 0% 34 44.1% - - - - - HMMPfam_MH1,HMMSmart_SM00523,superfamily_SMAD MH1 domain POSTN 10631 genome.wustl.edu 37 13 38154704 38154704 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006475.2 -1 validated p.R508H 1.000 337 0% 85 29.4% - - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_Fasciclin,superfamily_FAS1 domain POSTN 10631 genome.wustl.edu 37 13 38158866 38158866 + Silent SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006475.2 -1 validated p.L365 0.733 208 0% 41 31.7% - - - - - HMMPfam_Fasciclin,HMMSmart_SM00554,superfamily_FAS1 domain FREM2 341640 genome.wustl.edu 37 13 39447013 39447013 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_207361.4 +1 reviewed p.Y2706 0.440 75 0% 59 16.9% - - - - - NULL FREM2 341640 genome.wustl.edu 37 13 39448659 39448659 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_207361.4 +1 reviewed p.G2739 0.718 141 0% 142 47.9% - - - - - NULL PROSER1 80209 genome.wustl.edu 37 13 39587145 39587145 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025138.3 -1 validated p.L748 0.997 338 0% 253 41.1% - - - - - NULL PROSER1 80209 genome.wustl.edu 37 13 39587780 39587780 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025138.3 -1 validated p.L537M 0.028 117 0% 79 32.9% - - benign(0) tolerated(0.19) neutral(0.050) NULL PROSER1 80209 genome.wustl.edu 37 13 39605757 39605757 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025138.3 -1 validated p.L41 0.895 80 0% 62 41.9% - - - - - NULL NHLRC3 387921 genome.wustl.edu 37 13 39621246 39621246 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001012754.2 +1 validated p.A250T 0.007 240 0% 276 33.3% - - benign(0.003) tolerated(0.36) neutral(0.020) superfamily_SSF101898 WBP4 11193 genome.wustl.edu 37 13 41656941 41656941 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007187.3 +1 reviewed p.T341I 1.000 81 0% 47 29.8% - - probably_damaging(0.978) deleterious(0.01) deleterious(0.826) NULL KBTBD7 84078 genome.wustl.edu 37 13 41766758 41766758 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032138.4 -1 provisional p.R546W 1.000 103 0% 79 39.2% - - probably_damaging(0.996) tolerated(0.17) deleterious(0.520) superfamily_Galactose oxidase central domain KBTBD7 84078 genome.wustl.edu 37 13 41768247 41768247 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032138.4 -1 provisional p.L49 1.000 55 0% 83 22.9% - - - - - superfamily_POZ domain NAA16 79612 genome.wustl.edu 37 13 41946403 41946403 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024561.4 +1 validated p.N671S 1.000 161 0% 39 12.8% - - benign(0) tolerated(0.68) neutral(0.002) superfamily_TPR-like KIAA0564 23078 genome.wustl.edu 37 13 42249390 42249390 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015058.1 -1 validated p.D1457G 1.000 238 0% 50 22% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL DGKH 160851 genome.wustl.edu 37 13 42739560 42739560 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178009.2 +1 reviewed p.D317N 1.000 214 0% 63 31.7% - - possibly_damaging(0.743) tolerated(0.35) neutral(0.293) NULL NUFIP1 26747 genome.wustl.edu 37 13 45523922 45523922 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012345.2 -1 validated p.T358I 0.987 321 0% 255 33.7% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL SLC25A30 253512 genome.wustl.edu 37 13 45976491 45976491 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001010875.2 -1 validated p.A136 0.316 183 0.5% 122 41.8% - - - - - superfamily_Mitoch_carrier,HMMPfam_Mito_carr FAM194B 220081 genome.wustl.edu 37 13 46170526 46170526 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182542.2 -1 predicted p.N205K 0.005 360 0% 222 39.6% - - possibly_damaging(0.875) tolerated(0.61) neutral(0.344) NULL SPERT 220082 genome.wustl.edu 37 13 46287879 46287879 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152719.1 +1 provisional p.R240H 0.070 9 0.000 26 0.346 - - probably_damaging(0.999) tolerated(0.07) deleterious(0.809) NULL ZC3H13 23091 genome.wustl.edu 37 13 46539475 46539475 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015070.3 -1 validated p.E1472* 1.000 382 0% 105 40% - - - - - NULL KIAA0226L 80183 genome.wustl.edu 37 13 46923438 46923438 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025113.2 -1 validated p.T538 1.000 65 0% 82 31.7% - - - - - NULL LRCH1 23143 genome.wustl.edu 37 13 47324762 47324762 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000311191 +1 known p.V690I 0.000 141 0% 39 33.3% - - benign(0.097) tolerated(0.47) neutral(0.018) HMMPfam_CH,superfamily_Calponin-homology domain CH-domain HTR2A 3356 genome.wustl.edu 37 13 47409382 47409382 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000621.3 -1 reviewed p.W336G 1.000 102 0% 21 33.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like SUCLA2 8803 genome.wustl.edu 37 13 48562805 48562805 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003850.2 -1 reviewed p.M135I 1.000 144 0% 97 29.9% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_ATP-grasp_2,superfamily_Glutathione synthetase ATP-binding domain-like MED4 29079 genome.wustl.edu 37 13 48660579 48660579 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014166.2 -1 provisional p.L68V 1.000 155 0% 146 32.9% - - possibly_damaging(0.448) deleterious(0.01) deleterious(0.552) HMMPfam_VDRIP ITM2B 9445 genome.wustl.edu 37 13 48830477 48830477 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021999.4 +1 reviewed p.F137 1.000 124 0% 109 39.4% - - - - - HMMPfam_BRICHOS ITM2B 9445 genome.wustl.edu 37 13 48832991 48832991 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021999.4 +1 reviewed p.R208H 1.000 240 0% 153 32% - - probably_damaging(1) tolerated(0.2) deleterious(0.549) HMMPfam_BRICHOS RB1 5925 genome.wustl.edu 37 13 48916738 48916738 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000321.2 +1 reviewed p.G90S 1.000 70 0% 23 39.1% - - benign(0.054) tolerated(0.55) neutral(0.011) NULL RB1 5925 genome.wustl.edu 37 13 49039174 49039174 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000321.2 +1 reviewed p.S751Y 1.000 88 0% 105 41% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_RB_B,HMMSmart_SM00385,superfamily_Cyclin-like FNDC3A 22862 genome.wustl.edu 37 13 49752714 49752714 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001079673.1 +1 validated p.F514C 1.000 219 0% 61 41% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PHF11 51131 genome.wustl.edu 37 13 50087279 50087279 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001040443.1 +1 validated p.E101* 1.000 312 0% 206 35% - - - - - NULL PHF11 51131 genome.wustl.edu 37 13 50092274 50092274 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001040443.1 +1 validated p.R149* 0.000 54 0% 53 34% - - - - - HMMSmart_PHD EBPL 84650 genome.wustl.edu 37 13 50235313 50235313 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032565.3 -1 validated p.E138K 1.000 60 0% 45 37.8% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_EBP EBPL 84650 genome.wustl.edu 37 13 50237312 50237312 + Silent SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032565.3 -1 validated p.A87 0.997 127 0% 102 33.3% - - - - - HMMPfam_EBP TRIM13 10206 genome.wustl.edu 37 13 50586175 50586175 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001007278.1 +1 reviewed p.C36 0.998 99 0% 52 28.8% - - - - - HMMSmart_RING,PatternScan_ZF_RING_1,HMMPfam_zf-C3HC4,superfamily_SSF57850 TRIM13 10206 genome.wustl.edu 37 13 50586283 50586283 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001007278.1 +1 reviewed p.L72 1.000 103 0% 41 29.3% - - - - - superfamily_SSF57850 GUCY1B2 2974 genome.wustl.edu 37 13 51599478 51599478 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000389600 -1 known p.D101N 1.000 119 0% 42 23.8% - - - - - HMMPfam_HNOBA SERPINE3 647174 genome.wustl.edu 37 13 51929178 51929178 + Splice_Site SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001101320.1 +1 validated e5-1 1.000 155 0% 34 35.3% - - - - - - DHRS12 79758 genome.wustl.edu 37 13 52351217 52351217 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001031719.1 -1 provisional p.E114D 1.000 82 0% 140 44.3% - - benign(0.01) tolerated(0.13) neutral(0.253) superfamily_NAD(P)-bd ATP7B 540 genome.wustl.edu 37 13 52544886 52544886 + Splice_Site SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000053.2 -1 reviewed e3-1 0.750 67 0% 47 31.9% - - - - - - ATP7B 540 genome.wustl.edu 37 13 52548215 52548215 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000053.2 -1 reviewed p.I381V 0.003 92 0% 29 41.4% - - benign(0.036) tolerated(0.58) neutral(0.007) HMMPfam_HMA,superfamily_HMA heavy metal-associated domain,PatternScan_HMA_1 ALG11 440138 genome.wustl.edu 37 13 52598175 52598175 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001004127.1 +1 provisional p.G103 0.027 172 0% 108 32.4% - - - - - superfamily_SSF53756 OLFM4 10562 genome.wustl.edu 37 13 53624108 53624108 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006418.3 +1 reviewed p.S245R 0.938 159 0% 41 41.5% - - probably_damaging(0.997) deleterious(0.02) deleterious(0.849) NULL PCDH17 27253 genome.wustl.edu 37 13 58207485 58207485 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001040429.2 +1 reviewed p.D269N 1.000 17 0% 24 29.2% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDH17 27253 genome.wustl.edu 37 13 58208363 58208363 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001040429.2 +1 reviewed p.A561 1.000 16 0% 34 26.5% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDH17 27253 genome.wustl.edu 37 13 58208996 58208996 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001040429.2 +1 reviewed p.S772 1.000 100 0% 137 42.3% - - - - - NULL PCDH9 5101 genome.wustl.edu 37 13 67801437 67801437 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_203487.2 -1 reviewed p.V379A 1.000 123 0% 128 36.7% - - benign(0.009) tolerated(0.11) neutral(0.272) HMMPfam_Cadherin,superfamily_Cadherin-like DACH1 1602 genome.wustl.edu 37 13 72063187 72063187 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_080759.4 -1 reviewed p.S555F 1.000 81 0% 46 34.8% - - probably_damaging(0.984) deleterious(0.01) deleterious(0.836) NULL DIS3 22894 genome.wustl.edu 37 13 73335798 73335798 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014953.3 -1 validated p.A833T 1.000 264 0% 90 38.9% - - possibly_damaging(0.768) tolerated(0.06) deleterious(0.607) NULL PIBF1 10464 genome.wustl.edu 37 13 73372123 73372123 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006346.2 +1 validated p.E211* 1.000 124 0% 40 25% - - - - - NULL TBC1D4 9882 genome.wustl.edu 37 13 75873508 75873508 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014832.2 -1 validated p.L1038 0.001 48 0% 20 35% - - - - - HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p TBC1D4 9882 genome.wustl.edu 37 13 75873626 75873626 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014832.2 -1 validated p.S999F 1.000 39 0% 15 46.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p TBC1D4 9882 genome.wustl.edu 37 13 75936619 75936619 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014832.2 -1 validated p.G208E 1.000 118 0% 98 36.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like FBXL3 26224 genome.wustl.edu 37 13 77581438 77581438 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012158.2 -1 reviewed p.V377I 1.000 165 0% 77 29.9% - - possibly_damaging(0.523) tolerated(0.36) neutral(0.196) superfamily_SSF52047 MYCBP2 23077 genome.wustl.edu 37 13 77636781 77636781 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015057.4 -1 validated p.R4204C 1.000 273 0.4% 72 43.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL EDNRB 1910 genome.wustl.edu 37 13 78492244 78492244 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000115.2 -1 reviewed p.I155 0.997 75 0% 74 33.8% - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like POU4F1 5457 genome.wustl.edu 37 13 79175712 79175712 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006237.3 -1 validated p.E366D 1.000 38 0% 111 41.4% - - probably_damaging(0.998) tolerated(0.1) deleterious(0.761) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like RNF219 79596 genome.wustl.edu 37 13 79190310 79190310 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024546.3 -1 validated p.S529L 1.000 106 0% 48 35.4% - - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL SPRY2 10253 genome.wustl.edu 37 13 80911301 80911301 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005842.2 -1 reviewed p.D180 1.000 103 0% 111 33.3% - - - - - NULL SLITRK6 84189 genome.wustl.edu 37 13 86370414 86370414 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032229.2 -1 validated p.T77M 0.996 176 0.6% 31 35.5% - - possibly_damaging(0.861) tolerated(0.09) deleterious(0.629) superfamily_L domain-like SLITRK5 26050 genome.wustl.edu 37 13 88328913 88328913 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015567.1 +1 validated p.V424M 0.997 61 0% 105 41% - - probably_damaging(0.96) tolerated(0.08) deleterious(0.703) superfamily_L domain-like GPC6 10082 genome.wustl.edu 37 13 94958323 94958323 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005708.3 +1 reviewed p.P366 0.935 53 0% 38 57.9% - - - - - HMMPfam_Glypican DCT 1638 genome.wustl.edu 37 13 95118820 95118820 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001129889.1 -1 validated p.D230Y 1.000 64 0% 21 19% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Tyrosinase,superfamily_Di-copper_centre ABCC4 10257 genome.wustl.edu 37 13 95860133 95860133 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005845.3 -1 reviewed p.E278* 1.000 173 0% 92 38% - - - - - HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain CLDN10 9071 genome.wustl.edu 37 13 96205093 96205093 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006984.4 +1 reviewed p.Y29C 1.000 20 5% 39 46.2% - - possibly_damaging(0.44) deleterious(0.05) deleterious(0.489) HMMPfam_PMP22_Claudin DZIP1 22873 genome.wustl.edu 37 13 96258307 96258307 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198968.2 -1 validated p.A476D 0.316 108 0% 73 32.9% - - probably_damaging(0.991) deleterious(0.02) deleterious(0.827) NULL DNAJC3 5611 genome.wustl.edu 37 13 96416094 96416094 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006260.3 +1 reviewed p.K321R 1.000 237 0% 69 40.6% - - benign(0.001) tolerated(0.31) neutral(0.027) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like UGGT2 55757 genome.wustl.edu 37 13 96546859 96546859 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020121.3 -1 validated p.R938C 0.024 155 0% 22 27.3% - - possibly_damaging(0.67) deleterious(0.04) deleterious(0.587) HMMPfam_UDP-g_GGTase MBNL2 10150 genome.wustl.edu 37 13 97928517 97928517 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144778.2 +1 reviewed p.D10Y 1.000 130 0% 34 32.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL MBNL2 10150 genome.wustl.edu 37 13 98043601 98043601 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_207304.1 +1 reviewed p.N328 0.033 135 0.7% 49 38.8% - - - - - NULL RNF113B 140432 genome.wustl.edu 37 13 98828886 98828886 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178861.4 -1 validated p.T202I 1.000 76 0% 128 35.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1,superfamily_SSF90229 RNF113B 140432 genome.wustl.edu 37 13 98829332 98829332 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178861.4 -1 validated p.G53 0.005 9 0.000 23 0.261 - - - - - NULL FARP1 10160 genome.wustl.edu 37 13 99099066 99099066 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005766.2 +1 reviewed p.F1017 0.993 78 0% 104 35.6% - - - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like SLC15A1 6564 genome.wustl.edu 37 13 99338474 99338474 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005073.3 -1 reviewed p.I635 0.076 95 0% 60 40% - - - - - superfamily_MFS general substrate transporter DOCK9 23348 genome.wustl.edu 37 13 99452703 99452703 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000357329 -1 known p.R1934C 1.000 72 0% 28 42.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ded_cyto DOCK9 23348 genome.wustl.edu 37 13 99582438 99582438 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001130049.1 -1 validated p.S107I 1.000 98 0% 51 29.4% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL TMTC4 84899 genome.wustl.edu 37 13 101308682 101308682 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032813.2 -1 validated p.L198P 1.000 175 0% 112 33.9% - - possibly_damaging(0.934) deleterious(0.01) deleterious(0.786) NULL NALCN 259232 genome.wustl.edu 37 13 101707748 101707748 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_052867.2 -1 validated p.M1706V 1.000 210 0% 98 37.8% - - benign(0) tolerated(0.53) neutral(0.007) NULL FGF14 2259 genome.wustl.edu 37 13 102375227 102375227 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_175929.2 -1 reviewed p.A238V 1.000 197 0% 34 35.3% - - benign(0) tolerated(0.08) neutral(0.300) NULL TPP2 7174 genome.wustl.edu 37 13 103268771 103268771 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003291.2 +1 reviewed p.D139G 1.000 65 0% 22 18.2% - - possibly_damaging(0.512) deleterious(0.01) deleterious(0.578) HMMPfam_Peptidase_S8,superfamily_Pept_S8_S53 TPP2 7174 genome.wustl.edu 37 13 103297358 103297358 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003291.2 +1 reviewed p.R798C 0.996 97 0% 27 37% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL LOC643677 643677 genome.wustl.edu 37 13 103383818 103383818 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002344085.1 -1 model p.P6258L 0.001 166 0% 48 31.2% - - unknown(0) - - NULL LOC643677 643677 genome.wustl.edu 37 13 103391485 103391485 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002344085.1 -1 model p.L3783 0.009 188 0% 45 31.1% - - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103392029 103392029 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002344085.1 -1 model p.R3602I 0.000 256 0% 47 31.9% - - - - - NULL KDELC1 79070 genome.wustl.edu 37 13 103443298 103443298 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024089.2 -1 reviewed p.L346M 1.000 108 0% 61 42.6% - - possibly_damaging(0.903) tolerated(0.1) deleterious(0.644) HMMSmart_CAP10,HMMPfam_DUF821 ABHD13 84945 genome.wustl.edu 37 13 108882124 108882124 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032859.2 +1 validated p.K186N 0.996 105 0% 38 31.6% - - possibly_damaging(0.948) deleterious(0.01) deleterious(0.796) HMMPfam_Abhydrolase_1,superfamily_alpha/beta-Hydrolases COL4A1 1282 genome.wustl.edu 37 13 110819570 110819570 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001845.4 -1 reviewed p.G1295D 0.914 123 0% 84 34.5% - - probably_damaging(0.999) tolerated(0.8) deleterious(0.491) HMMPfam_Collagen COL4A2 1284 genome.wustl.edu 37 13 111117807 111117807 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001846.2 +1 reviewed p.T611M 0.000 19 0% 36 50% - - unknown(0) tolerated(0.1) - HMMPfam_Collagen CARKD 55739 genome.wustl.edu 37 13 111277574 111277574 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018210.2 +1 validated p.A112V 1.000 36 0% 79 34.2% - - probably_damaging(0.997) tolerated(0.09) deleterious(0.762) HMMPfam_Carb_kinase,superfamily_SSF53613 CARKD 55739 genome.wustl.edu 37 13 111279803 111279803 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018210.2 +1 validated p.V135A 0.709 180 0% 266 14.3% - - possibly_damaging(0.935) tolerated(0.16) neutral(0.440) HMMPfam_Carb_kinase,superfamily_SSF53613 ANKRD10 55608 genome.wustl.edu 37 13 111536133 111536133 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017664.2 -1 validated p.S233 0.013 109 0% 51 35.3% - - - - - NULL ARHGEF7 8874 genome.wustl.edu 37 13 111938512 111938512 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001113511.1 +1 reviewed p.K678E 1.000 87 0% 114 38.6% - - probably_damaging(0.994) deleterious(0.02) deleterious(0.835) NULL TUBGCP3 10426 genome.wustl.edu 37 13 113200144 113200144 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006322.4 -1 provisional p.A402T 0.998 76 0% 89 34.8% - - benign(0.001) tolerated(0.34) neutral(0.023) HMMPfam_Spc97_Spc98 ATP11A 23250 genome.wustl.edu 37 13 113487179 113487179 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000418678 +1 known p.A442V 0.350 114 0% 203 10.3% - - - - - superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N MCF2L 23263 genome.wustl.edu 37 13 113730304 113730304 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001112732.1 +1 validated p.I502V 0.991 74 0% 125 33.6% - - benign(0.037) tolerated(0.63) neutral(0.005) superfamily_Spectrin repeat F10 2159 genome.wustl.edu 37 13 113783816 113783816 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000504.3 +1 reviewed p.A41T 1.000 51 0% 82 31.7% - - possibly_damaging(0.723) deleterious(0.01) deleterious(0.668) HMMSmart_SM00069,superfamily_GLA-domain F10 2159 genome.wustl.edu 37 13 113798391 113798391 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000418726 +1 known p.T120M 0.000 49 0% 117 29.1% - - - - - NULL F10 2159 genome.wustl.edu 37 13 113801752 113801752 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000504.3 +1 reviewed p.F269L 0.001 80 0% 142 35.9% - - benign(0.165) tolerated(0.64) neutral(0.018) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases GRTP1 79774 genome.wustl.edu 37 13 113979895 113979895 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000375430 -1 known p.P334 0.010 34 0% 85 35.3% - - - - - NULL ADPRHL1 113622 genome.wustl.edu 37 13 114098754 114098754 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138430.3 -1 validated p.P122L 0.994 125 0% 214 27.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ADP_ribosyl_GH,superfamily_ADP-ribosylglycohydrolase TFDP1 7027 genome.wustl.edu 37 13 114285986 114285986 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007111.4 +1 reviewed p.G79* 1.000 211 0% 356 34% - - - - - NULL FAM70B 348013 genome.wustl.edu 37 13 114469089 114469089 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182614.2 +1 provisional p.E16 0.960 42 0% 80 37.5% - - - - - NULL FAM70B 348013 genome.wustl.edu 37 13 114504697 114504697 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182614.2 +1 provisional p.R194H 1.000 14 0% 43 44.2% - - probably_damaging(0.992) tolerated(0.53) neutral(0.455) NULL GAS6 2621 genome.wustl.edu 37 13 114531619 114531619 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000820.2 -1 reviewed p.I403 0.772 79 0% 148 35.8% - - - - - HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 OR11H2 79334 genome.wustl.edu 37 14 20181152 20181152 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000334072 -1 known p.Q308 0.976 357 0% 121 31.4% - - - - - superfamily_SSF81321 OR4M1 441670 genome.wustl.edu 37 14 20248725 20248725 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005500.1 +1 provisional p.L82F 0.993 612 0% 167 38.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR4K5 79317 genome.wustl.edu 37 14 20389170 20389170 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005483.1 +1 provisional p.I135 0.929 209 0% 55 27.3% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR4K5 79317 genome.wustl.edu 37 14 20389353 20389353 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005483.1 +1 provisional p.E196 0.013 358 0% 98 21.4% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR4K1 79544 genome.wustl.edu 37 14 20404285 20404285 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001004063.2 +1 validated p.L154I 0.484 299 0% 101 24.8% - - benign(0.076) tolerated(0.9) neutral(0.005) HMMPfam_7tm_1,superfamily_SSF81321 OR4K1 79544 genome.wustl.edu 37 14 20404335 20404335 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001004063.2 +1 validated p.G170 0.993 303 0% 88 18.2% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR4K15 81127 genome.wustl.edu 37 14 20444332 20444332 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005486.1 +1 provisional p.V219I 0.000 247 0% 54 22.2% - - benign(0) tolerated(0.31) neutral(0.027) HMMPfam_7tm_1,superfamily_SSF81321 PARP2 10038 genome.wustl.edu 37 14 20824814 20824814 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005484.3 +1 reviewed p.I445S 1.000 211 0% 133 13.5% - - probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_PARP,superfamily_ADP-ribosylation TEP1 7011 genome.wustl.edu 37 14 20863770 20863770 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007110.4 -1 reviewed p.S589 0.549 160 0% 115 37.4% - - - - - HMMPfam_TROVE RNASE11 122651 genome.wustl.edu 37 14 21052395 21052395 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_145250.3 -1 validated p.S80I 0.019 208 0% 103 27.2% - - benign(0.004) tolerated(0.05) neutral(0.345) superfamily_RNase A-like ARHGEF40 55701 genome.wustl.edu 37 14 21549781 21549781 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018071.3 +1 validated p.T918 1.000 7 0.000 15 0.467 - - - - - NULL C14orf176 643382 genome.wustl.edu 37 14 21570110 21570110 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002343257.1 +1 model p.A4 0.057 74 0% 116 33.6% - - - - - NULL OR5AU1 390445 genome.wustl.edu 37 14 21623368 21623368 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001004731.1 -1 provisional p.L273I 0.080 210 0% 113 42.5% - - benign(0.023) tolerated(0.5) neutral(0.011) HMMPfam_7tm_1,superfamily_SSF81321 HNRNPC 3183 genome.wustl.edu 37 14 21702317 21702317 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001077442.1 -1 reviewed p.R12 0.878 237 0% 105 38.1% - - - - - superfamily_RNA-binding domain RBD CHD8 57680 genome.wustl.edu 37 14 21868143 21868143 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020920.3 -1 reviewed p.A1326V 1.000 124 0% 60 25% - - benign(0.001) tolerated(0.38) neutral(0.018) superfamily_P-loop containing nucleoside triphosphate hydrolases CHD8 57680 genome.wustl.edu 37 14 21868728 21868728 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020920.3 -1 reviewed p.R1193* 1.000 76 0% 34 20.6% - - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases CHD8 57680 genome.wustl.edu 37 14 21883117 21883117 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020920.3 -1 reviewed p.F389L 1.000 228 0% 94 27.7% - - probably_damaging(0.989) deleterious(0.02) deleterious(0.823) HMMPfam_Chromo,HMMSmart_SM00298,superfamily_Chromo domain-like TOX4 9878 genome.wustl.edu 37 14 21961059 21961059 + Silent SNP A A T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014828.2 +1 validated p.A428 0.460 43 0% 42 45.2% - - - - - NULL OR10G3 26533 genome.wustl.edu 37 14 22037947 22037947 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005465.1 -1 validated p.P310L 0.001 85 0% 65 32.3% - - benign(0.001) tolerated(0.75) neutral(0.002) NULL TRAC 28755 genome.wustl.edu 37 14 22538997 22538997 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000446346 +1 known p.G11C 0.003 229 0% 80 33.8% - - benign(0.068) tolerated(0.25) neutral(0.041) NULL TRAC 28755 genome.wustl.edu 37 14 22539463 22539463 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000446346 +1 known p.C103 0.996 23 0% 14 35.7% - - probably_damaging(0.999) tolerated(0.07) deleterious(0.809) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin ABHD4 63874 genome.wustl.edu 37 14 23070635 23070635 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022060.2 +1 validated p.K29N 1.000 64 0% 102 39.2% - - benign(0.011) deleterious(0.05) neutral(0.346) NULL LOC100288791 100288791 genome.wustl.edu 37 14 23315089 23315089 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002343265.1 -1 model p.V36I 0.333 73 0% 125 38.4% - - - - - NULL PRMT5 10419 genome.wustl.edu 37 14 23395385 23395385 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006109.3 -1 validated p.V245A 1.000 152 0.7% 161 21.1% - - possibly_damaging(0.541) tolerated(0.21) neutral(0.227) HMMPfam_PRMT5 CDH24 64403 genome.wustl.edu 37 14 23524351 23524351 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022478.3 -1 validated p.I138T 1.000 70 0% 111 34.2% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like SLC7A8 23428 genome.wustl.edu 37 14 23608643 23608643 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012244.2 -1 validated p.A301V 1.000 109 0% 98 34.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AA_permease PABPN1 8106 genome.wustl.edu 37 14 23791449 23791449 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004643.2 +1 reviewed p.K137N 1.000 116 0% 183 39.9% - - probably_damaging(0.994) deleterious(0.04) deleterious(0.801) superfamily_RNA-binding domain RBD PABPN1 8106 genome.wustl.edu 37 14 23793489 23793489 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004643.2 +1 reviewed p.R291H 1.000 50 0% 86 47.7% - - probably_damaging(0.999) tolerated(0.16) deleterious(0.550) NULL CMTM5 116173 genome.wustl.edu 37 14 23847682 23847682 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138460.2 +1 reviewed p.R84H 1.000 189 0% 264 37.1% - - benign(0) tolerated(0.25) neutral(0.037) HMMPfam_MARVEL MYH6 4624 genome.wustl.edu 37 14 23858686 23858686 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002471.3 -1 validated p.A1298 0.068 86 0% 181 12.2% - - - - - HMMPfam_Myosin_tail_1,superfamily_Prefoldin MYH6 4624 genome.wustl.edu 37 14 23870131 23870131 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002471.3 -1 validated p.G399 0.963 93 0% 142 28.9% - - - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYH7 4625 genome.wustl.edu 37 14 23885034 23885034 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000257.2 -1 reviewed p.Q1654R 1.000 67 0% 105 32.4% - - possibly_damaging(0.663) deleterious(0.03) deleterious(0.599) HMMPfam_Myosin_tail_1 C14orf167 55449 genome.wustl.edu 37 14 24422937 24422937 + RNA SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NR_023921.1 -1 validated NULL 0.003 19 0% 32 34.4% - - - - - - LRRC16B 90668 genome.wustl.edu 37 14 24538007 24538007 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138360.3 +1 validated p.A1272T 0.104 33 0% 71 28.2% - - benign(0.187) tolerated(0.29) neutral(0.046) NULL REC8 9985 genome.wustl.edu 37 14 24647343 24647343 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001048205.1 +1 reviewed p.R303Q 0.526 26 0% 55 16.4% - - benign(0.001) tolerated(1) - NULL LTB4R2 56413 genome.wustl.edu 37 14 24780622 24780622 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_019839.4 +1 validated p.A282V 0.083 15 0% 30 26.7% - - possibly_damaging(0.842) tolerated(0.29) neutral(0.351) HMMPfam_7tm_1,superfamily_SSF81321 LTB4R2 56413 genome.wustl.edu 37 14 24780753 24780753 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_019839.4 +1 validated p.L326M 0.912 30 0% 63 31.7% - - probably_damaging(0.962) tolerated(0.11) deleterious(0.677) NULL ADCY4 196883 genome.wustl.edu 37 14 24798349 24798349 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_139247.2 -1 reviewed p.Y481C 1.000 167 0% 209 43.1% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_DUF1053 NYNRIN 57523 genome.wustl.edu 37 14 24884009 24884009 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025081.2 +1 validated p.D1018 0.000 102 0% 176 38.6% - - - - - NULL NYNRIN 57523 genome.wustl.edu 37 14 24885522 24885522 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025081.2 +1 validated p.L1523F 0.994 31 0% 78 11.5% - - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL NOVA1 4857 genome.wustl.edu 37 14 27064755 27064755 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002515.2 -1 reviewed p.D47 1.000 146 0% 175 38.9% - - - - - NULL PRKD1 5587 genome.wustl.edu 37 14 30068326 30068326 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002742.2 -1 validated p.L691 0.932 128 0% 31 48.4% - - - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase HEATR5A 25938 genome.wustl.edu 37 14 31762572 31762572 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015473.2 -1 validated p.S1734F 1.000 104 0% 59 32.2% - - benign(0.096) deleterious(0.02) neutral(0.390) NULL HEATR5A 25938 genome.wustl.edu 37 14 31777219 31777219 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015473.2 -1 validated p.S1273 1.000 86 0% 47 29.8% - - - - - superfamily_ARM repeat NUBPL 80224 genome.wustl.edu 37 14 32031422 32031422 + Splice_Site SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025152.2 +1 validated e2+1 1.000 79 0% 149 33.6% - - - - - - AKAP6 9472 genome.wustl.edu 37 14 33291034 33291034 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004274.4 +1 reviewed p.L1339I 0.989 79 0% 26 26.9% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL AKAP6 9472 genome.wustl.edu 37 14 33292239 33292239 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004274.4 +1 reviewed p.V1740 0.997 111 0% 33 36.4% - - - - - NULL SNX6 58533 genome.wustl.edu 37 14 35050779 35050779 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152233.2 -1 reviewed p.F286 1.000 90 0% 69 43.5% - - - - - HMMPfam_Vps5 RALGAPA1 253959 genome.wustl.edu 37 14 36240206 36240206 + Splice_Site SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_194301.2 -1 provisional e4-1 1.000 21 0.000 8 0.750 - - - - - - RALGAPA1 253959 genome.wustl.edu 37 14 36277948 36277948 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_194301.2 -1 provisional p.R32C 1.000 90 0% 140 31.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL MIPOL1 145282 genome.wustl.edu 37 14 37737883 37737883 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138731.5 +1 validated p.N91T 0.003 128 0% 26 53.8% - - possibly_damaging(0.767) deleterious(0) deleterious(0.729) NULL FOXA1 3169 genome.wustl.edu 37 14 38061304 38061304 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004496.2 -1 reviewed p.V229I 1.000 67 0% 127 46.5% - - possibly_damaging(0.492) tolerated(0.16) neutral(0.224) HMMPfam_Fork_head,HMMSmart_FH,superfamily_SSF46785 PNN 5411 genome.wustl.edu 37 14 39649827 39649827 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002687.3 +1 validated p.A305V 1.000 502 0% 361 36.3% - - benign(0) tolerated(0.13) neutral(0.253) NULL FSCB 84075 genome.wustl.edu 37 14 44975361 44975361 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032135.3 -1 validated p.A277V 0.018 117 0% 55 32.7% - - possibly_damaging(0.598) tolerated(0.27) neutral(0.240) NULL C14orf28 122525 genome.wustl.edu 37 14 45369899 45369899 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001017923.1 +1 validated p.E87 1.000 66 0% 68 33.8% - - - - - NULL FAM179B 23116 genome.wustl.edu 37 14 45432435 45432435 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015091.2 +1 validated p.E271* 1.000 64 0% 50 38% - - - - - superfamily_ARM repeat FAM179B 23116 genome.wustl.edu 37 14 45433279 45433279 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015091.2 +1 validated p.A552V 1.000 118 0% 93 34.4% - - possibly_damaging(0.947) deleterious(0.03) deleterious(0.755) superfamily_ARM repeat FAM179B 23116 genome.wustl.edu 37 14 45433454 45433454 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015091.2 +1 validated p.T610 0.980 121 0% 79 40.5% - - - - - superfamily_ARM repeat FAM179B 23116 genome.wustl.edu 37 14 45523725 45523725 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015091.2 +1 validated p.S1458F 1.000 80 0% 39 33.3% - - probably_damaging(0.981) deleterious(0.05) deleterious(0.771) superfamily_ARM repeat MIS18BP1 55320 genome.wustl.edu 37 14 45693163 45693163 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018353.4 -1 validated p.Q876P 0.002 132 0% 82 15.9% - - possibly_damaging(0.916) tolerated(0.13) deleterious(0.619) HMMSmart_SM00717,superfamily_Homeodomain-like MIS18BP1 55320 genome.wustl.edu 37 14 45693553 45693553 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018353.4 -1 validated p.R746I 0.000 144 0% 93 41.9% - - possibly_damaging(0.688) deleterious(0.01) deleterious(0.651) NULL MIS18BP1 55320 genome.wustl.edu 37 14 45716461 45716461 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018353.4 -1 validated p.R10I 0.771 52 0% 57 28.1% - - benign(0.303) deleterious(0.02) deleterious(0.477) NULL ENSG00000248934 0 genome.wustl.edu 37 14 50089400 50089400 + RNA SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000504161 -1 novel NULL 0.993 12 0% 20 35% - - - - - - POLE2 5427 genome.wustl.edu 37 14 50122404 50122404 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002692.2 -1 provisional p.R305C 1.000 126 0% 88 42% - - probably_damaging(0.966) deleterious(0) deleterious(0.853) HMMPfam_DNA_pol_E_B NEMF 9147 genome.wustl.edu 37 14 50272849 50272849 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004713.3 -1 validated p.E583* 1.000 64 0% 24 25% - - - - - HMMPfam_DUF814 SOS2 6655 genome.wustl.edu 37 14 50625284 50625284 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006939.2 -1 validated p.R645W 1.000 174 0% 41 43.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RasGEF_N,HMMSmart_RasGEFN,superfamily_Ras_GEF NIN 51199 genome.wustl.edu 37 14 51223976 51223976 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020921.3 -1 reviewed p.E1258* 0.991 214 0% 162 32.7% - - - - - NULL NIN 51199 genome.wustl.edu 37 14 51238147 51238147 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020921.3 -1 reviewed p.E341* 1.000 162 0% 103 33% - - - - - superfamily_EF-hand FRMD6 122786 genome.wustl.edu 37 14 52167873 52167873 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000344768 +1 known p.T97I 1.000 87 0% 16 37.5% - - benign(0) deleterious(0.01) neutral(0.406) HMMPfam_FERM_N,HMMSmart_SM00295,superfamily_Ubiquitin-like C14orf166 51637 genome.wustl.edu 37 14 52468540 52468540 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016039.2 +1 validated p.R163C 1.000 171 0% 46 32.6% - - probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_RLL TXNDC16 57544 genome.wustl.edu 37 14 52899057 52899057 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020784.2 -1 validated p.R815C 0.000 140 0% 86 44.2% - - benign(0) deleterious(0.03) neutral(0.364) NULL STYX 6815 genome.wustl.edu 37 14 53235564 53235564 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001130701.1 +1 validated p.E171* 1.000 74 0% 19 36.8% - - - - - HMMPfam_DSPc,HMMSmart_SM00195,superfamily_(Phosphotyrosine protein) phosphatases II FERMT2 10979 genome.wustl.edu 37 14 53385887 53385887 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001134999.1 -1 validated p.F115L 1.000 97 0% 29 34.5% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_B41 BMP4 652 genome.wustl.edu 37 14 54417048 54417048 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001202.3 -1 reviewed p.R310H 1.000 54 0% 104 49% - - probably_damaging(0.984) deleterious(0) deleterious(0.875) HMMPfam_TGF_beta,HMMSmart_SM00204,superfamily_Cystine-knot cytokines CGRRF1 10668 genome.wustl.edu 37 14 55005090 55005090 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006568.2 +1 validated p.K330E 0.275 55 0% 22 36.4% - - probably_damaging(0.965) deleterious(0) deleterious(0.851) NULL GCH1 2643 genome.wustl.edu 37 14 55332114 55332114 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000161.2 -1 reviewed p.E128D 1.000 153 0% 64 12.5% - - possibly_damaging(0.521) deleterious(0.04) deleterious(0.524) PatternScan_GTP_CYCLOHYDROL_1_1,HMMPfam_GTP_cyclohydroI,superfamily_Tetrahydrobiopterin biosynthesis enzymes-like WDHD1 11169 genome.wustl.edu 37 14 55433279 55433279 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007086.2 -1 reviewed p.L742V 1.000 271 0% 129 39.5% - - possibly_damaging(0.541) deleterious(0.02) deleterious(0.567) superfamily_WD40_like DLGAP5 9787 genome.wustl.edu 37 14 55655720 55655720 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014750.4 -1 validated p.L60I 0.889 263 0.4% 210 35.7% - - benign(0.021) tolerated(0.22) neutral(0.043) NULL KTN1 3895 genome.wustl.edu 37 14 56117110 56117110 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001079521.1 +1 validated p.V824F 1.000 116 0% 47 38.3% - - probably_damaging(0.998) deleterious(0.05) deleterious(0.820) superfamily_Spectrin repeat PELI2 57161 genome.wustl.edu 37 14 56755227 56755227 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021255.2 +1 validated p.E128K 0.999 78 0% 27 25.9% - - benign(0.245) tolerated(0.68) neutral(0.027) HMMPfam_Pellino C14orf101 54916 genome.wustl.edu 37 14 57088258 57088258 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017799.3 +1 validated p.D412 1.000 156 0% 60 40% - - - - - NULL OTX2 5015 genome.wustl.edu 37 14 57272090 57272090 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021728.2 -1 reviewed p.V29M 1.000 86 0% 190 33.2% - - possibly_damaging(0.445) tolerated(0.31) neutral(0.172) superfamily_Homeodomain_like C14orf37 145407 genome.wustl.edu 37 14 58604928 58604928 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001001872.2 -1 predicted p.A383 0.000 93 0% 66 25.8% - - - - - NULL PSMA3 5684 genome.wustl.edu 37 14 58727739 58727739 + Splice_Site SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002788.2 +1 reviewed e6+1 1.000 151 0% 84 38.1% - - - - - - ARID4A 5926 genome.wustl.edu 37 14 58825935 58825935 + Splice_Site SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002892.3 +1 reviewed e17+1 1.000 139 0% 115 33.9% - - - - - - ARID4A 5926 genome.wustl.edu 37 14 58831376 58831376 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002892.3 +1 reviewed p.R857W 1.000 40 0% 37 37.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ARID4A 5926 genome.wustl.edu 37 14 58831890 58831890 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002892.3 +1 reviewed p.E1028A 1.000 132 0% 64 35.9% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL DAAM1 23002 genome.wustl.edu 37 14 59798009 59798009 + Missense_Mutation SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014992.1 +1 reviewed p.L548H 0.002 68 0% 40 42.5% - - unknown(0) deleterious(0) - NULL C14orf38 729665 genome.wustl.edu 37 14 60030468 60030468 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000281581 -1 known p.T277I 0.078 175 0% 60 45% - - probably_damaging(0.996) deleterious(0.04) deleterious(0.810) NULL RTN1 6252 genome.wustl.edu 37 14 60193723 60193723 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021136.2 -1 reviewed p.S560F 0.000 35 0% 66 40.9% - - benign(0.313) deleterious(0.01) deleterious(0.503) NULL RTN1 6252 genome.wustl.edu 37 14 60194112 60194112 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021136.2 -1 reviewed p.G430 0.967 6 0.000 16 0.250 - - - - - NULL SIX1 6495 genome.wustl.edu 37 14 61115817 61115817 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005982.3 -1 reviewed p.G31S 1.000 11 0% 42 33.3% - - benign(0.001) tolerated(0.43) neutral(0.013) NULL SLC38A6 145389 genome.wustl.edu 37 14 61518786 61518786 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153811.2 +1 validated p.F408C 1.000 253 0% 120 35% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Aa_trans TMEM30B 161291 genome.wustl.edu 37 14 61746896 61746896 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001017970.2 -1 validated p.V324I 0.989 35 0% 82 15.9% - - benign(0.155) tolerated(0.19) neutral(0.063) HMMPfam_CDC50 PRKCH 5583 genome.wustl.edu 37 14 61919961 61919961 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006255.3 +1 reviewed p.H284Y 1.000 131 0% 55 40% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,superfamily_Cysteine-rich domain PRKCH 5583 genome.wustl.edu 37 14 61997193 61997193 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006255.3 +1 reviewed p.M547I 1.000 135 0% 73 45.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SNAPC1 6617 genome.wustl.edu 37 14 62259535 62259535 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003082.3 +1 validated p.Q329H 0.017 97 0% 42 47.6% - - possibly_damaging(0.447) tolerated(0.18) neutral(0.202) NULL SYT16 83851 genome.wustl.edu 37 14 62541923 62541923 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031914.2 +1 validated p.A269 0.000 90 0% 34 11.8% - - - - - NULL KCNH5 27133 genome.wustl.edu 37 14 63416979 63416979 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_139318.3 -1 reviewed p.S414I 1.000 124 0% 22 54.5% - - benign(0.041) deleterious(0) neutral(0.447) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels PPP2R5E 5529 genome.wustl.edu 37 14 63920546 63920546 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006246.2 -1 reviewed p.V72A 1.000 138 0% 71 11.3% - - benign(0.01) tolerated(0.15) neutral(0.241) HMMPfam_B56,superfamily_ARM repeat SYNE2 23224 genome.wustl.edu 37 14 64483235 64483235 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182914.2 +1 reviewed p.V1591 0.998 44 0% 16 31.2% - - - - - superfamily_Spectrin SYNE2 23224 genome.wustl.edu 37 14 64556370 64556370 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182914.2 +1 reviewed p.E3917* 1.000 57 0% 31 38.7% - - - - - NULL SYNE2 23224 genome.wustl.edu 37 14 64634074 64634074 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182914.2 +1 reviewed p.R5577W 0.966 82 0% 38 44.7% - - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL ESR2 2100 genome.wustl.edu 37 14 64699953 64699953 + Missense_Mutation SNP C C T rs141940742 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001437.2 -1 reviewed p.V499M 0.995 124 0% 99 33.3% - - benign(0.008) deleterious(0.04) neutral(0.349) superfamily_Nuclear receptor ligand-binding domain ESR2 2100 genome.wustl.edu 37 14 64701829 64701829 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001437.2 -1 reviewed p.S422I 1.000 43 0% 31 32.3% - - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain MTHFD1 4522 genome.wustl.edu 37 14 64892896 64892896 + Silent SNP C C T rs187474222 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005956.3 +1 reviewed p.Y371 0.370 99 0% 63 28.6% - - - - - HMMPfam_FTHFS,superfamily_P-loop containing nucleoside triphosphate hydrolases ZBTB1 22890 genome.wustl.edu 37 14 64990077 64990077 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001123329.1 +1 validated p.R619C 1.000 118 0% 45 15.6% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 PLEKHG3 26030 genome.wustl.edu 37 14 65208466 65208466 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015549.1 +1 validated p.Y688C 1.000 13 0% 37 35.1% - - probably_damaging(0.993) deleterious(0) deleterious(0.895) NULL PLEKHG3 26030 genome.wustl.edu 37 14 65208661 65208661 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015549.1 +1 validated p.R753H 0.960 24 0% 47 42.6% - - probably_damaging(0.994) tolerated(0.17) deleterious(0.511) NULL RAB15 376267 genome.wustl.edu 37 14 65418328 65418328 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198686.2 -1 validated p.R80Q 1.000 74 0% 76 38.2% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 GPHN 10243 genome.wustl.edu 37 14 67631934 67631934 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020806.4 +1 reviewed p.A656T 1.000 213 0.5% 88 11.4% - - benign(0.222) deleterious(0.01) neutral(0.428) HMMPfam_MoCF_biosynth,superfamily_MoCF_biosynth GPHN 10243 genome.wustl.edu 37 14 67646301 67646301 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020806.4 +1 reviewed p.C696R 1.000 164 0% 54 24.1% - - benign(0) tolerated(0.51) neutral(0.009) HMMPfam_MoeA_C,superfamily_MoeA_C MPP5 64398 genome.wustl.edu 37 14 67769253 67769253 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022474.2 +1 validated p.R310W 1.000 184 0% 51 33.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like MPP5 64398 genome.wustl.edu 37 14 67787063 67787063 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022474.2 +1 validated p.R496C 1.000 109 0% 51 37.3% - - probably_damaging(0.953) deleterious(0) deleterious(0.841) HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases EIF2S1 1965 genome.wustl.edu 37 14 67847476 67847476 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004094.4 +1 validated p.R192* 1.000 55 0% 30 46.7% - - - - - HMMPfam_EIF_2_alpha,superfamily_eIF-2-alpha C-terminal domain VTI1B 10490 genome.wustl.edu 37 14 68126614 68126614 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006370.2 -1 validated p.R67H 0.981 86 1.2% 68 47.1% - - possibly_damaging(0.87) tolerated(0.1) deleterious(0.625) HMMPfam_V-SNARE ZFYVE26 23503 genome.wustl.edu 37 14 68219083 68219083 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015346.3 -1 reviewed p.A2450V 0.419 58 0% 59 32.2% - - benign(0.002) tolerated(0.67) neutral(0.003) NULL EXD2 55218 genome.wustl.edu 37 14 69701535 69701535 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018199.2 +1 provisional p.K154T 0.405 134 0% 68 44.1% - - benign(0.291) tolerated(0.35) neutral(0.110) NULL KIAA0247 9766 genome.wustl.edu 37 14 70175489 70175489 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014734.3 +1 validated p.S185F 0.070 34 0% 27 37% - - possibly_damaging(0.821) tolerated(0.73) neutral(0.312) NULL SRSF5 6430 genome.wustl.edu 37 14 70235375 70235375 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001039465.1 +1 validated p.E61* 1.000 414 0% 444 35.6% - - - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD SRSF5 6430 genome.wustl.edu 37 14 70237222 70237222 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000344070 +1 known p.V131I 0.998 117 0% 128 41.4% - - - - - NULL ENSG00000235812 0 genome.wustl.edu 37 14 70712570 70712570 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000433248 -1 known p.D433G 0.726 235 0% 94 40.4% - - - - - HMMPfam_ADAM_CR,HMMSmart_SM00608 ADAM21 8747 genome.wustl.edu 37 14 70925166 70925166 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003813.2 +1 reviewed p.R317H 0.478 146 0% 41 29.3% - - benign(0.036) tolerated(0.15) neutral(0.243) "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" TTC9 23508 genome.wustl.edu 37 14 71134379 71134379 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015351.1 +1 reviewed p.R169W 1.000 155 0% 75 36% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like MAP3K9 4293 genome.wustl.edu 37 14 71206803 71206803 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033141.2 -1 validated p.P549L 1.000 243 0% 188 29.3% - - probably_damaging(0.984) deleterious(0) deleterious(0.875) NULL SIPA1L1 26037 genome.wustl.edu 37 14 72054698 72054698 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015556.1 +1 provisional p.R37W 1.000 58 0% 20 30% - - possibly_damaging(0.871) deleterious(0) deleterious(0.783) NULL SIPA1L1 26037 genome.wustl.edu 37 14 72152142 72152142 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015556.1 +1 provisional p.Y1056 0.744 108 0% 65 35.4% - - - - - NULL SIPA1L1 26037 genome.wustl.edu 37 14 72171471 72171471 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015556.1 +1 provisional p.S1227Y 1.000 247 0% 126 43.7% - - unknown(0) tolerated(1) - NULL SIPA1L1 26037 genome.wustl.edu 37 14 72190374 72190374 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015556.1 +1 provisional p.S1428P 1.000 134 0% 85 36.5% - - probably_damaging(0.964) tolerated(0.19) neutral(0.456) NULL SIPA1L1 26037 genome.wustl.edu 37 14 72205763 72205763 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015556.1 +1 provisional p.A1767V 1.000 58 0% 37 29.7% - - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL DPF3 8110 genome.wustl.edu 37 14 73190389 73190389 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012074.3 -1 provisional p.E159 0.952 526 0% 476 36.8% - - - - - NULL RBM25 58517 genome.wustl.edu 37 14 73572703 73572703 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021239.2 +1 validated p.R431W 1.000 237 0% 173 39.3% - - unknown(0) deleterious(0.02) - NULL RBM25 58517 genome.wustl.edu 37 14 73572932 73572932 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021239.2 +1 validated p.R469Q 1.000 56 0% 33 36.4% - - unknown(0) deleterious(0.01) - NULL RBM25 58517 genome.wustl.edu 37 14 73578335 73578335 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021239.2 +1 validated p.V706A 1.000 135 0% 101 11.9% - - unknown(0) tolerated(0.77) - NULL PAPLN 89932 genome.wustl.edu 37 14 73712388 73712388 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173462.3 +1 validated p.R72H 1.000 14 0% 56 21.4% - - probably_damaging(1) tolerated(0.53) deleterious(0.507) HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1 PAPLN 89932 genome.wustl.edu 37 14 73721259 73721259 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173462.3 +1 validated p.S420 0.003 135 0% 212 15.6% - - - - - HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1 PAPLN 89932 genome.wustl.edu 37 14 73727987 73727987 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173462.3 +1 validated p.G717C 0.925 29 0% 53 13.2% - - probably_damaging(0.994) deleterious(0.03) deleterious(0.817) NULL NUMB 8650 genome.wustl.edu 37 14 73743510 73743510 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005743.1 -1 reviewed p.P578S 1.000 69 0% 61 32.8% - - benign(0.396) deleterious(0.03) deleterious(0.491) NULL HEATR4 399671 genome.wustl.edu 37 14 73989320 73989320 + Silent SNP A A T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_203309.1 -1 provisional p.P132 0.000 68 0% 57 36.8% - - - - - NULL ALDH6A1 4329 genome.wustl.edu 37 14 74533476 74533476 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005589.2 -1 reviewed p.R386* 0.978 128 0% 69 43.5% - - - - - HMMPfam_Aldedh,superfamily_ALDH-like VSX2 338917 genome.wustl.edu 37 14 74727339 74727339 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182894.2 +1 reviewed p.R268M 1.000 11 0% 24 29.2% - - possibly_damaging(0.595) deleterious(0.05) deleterious(0.551) NULL LTBP2 4053 genome.wustl.edu 37 14 74970709 74970709 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000428.2 -1 reviewed p.R1501Q 0.996 66 0% 76 44.7% - - benign(0) tolerated(0.38) neutral(0.018) HMMSmart_SM00179,superfamily_TB module/8-cys domain,HMMSmart_SM00181,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin LTBP2 4053 genome.wustl.edu 37 14 74976908 74976908 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000428.2 -1 reviewed p.E1013* 1.000 54 1.9% 117 36.8% - - - - - HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Growth factor receptor domain,HMMPfam_EGF_CA,PatternScan_EGF_CA LTBP2 4053 genome.wustl.edu 37 14 74978022 74978022 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000428.2 -1 reviewed p.C985Y 1.000 48 0% 64 51.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Growth factor receptor domain,HMMPfam_EGF_CA,PatternScan_EGF_CA YLPM1 56252 genome.wustl.edu 37 14 75248934 75248934 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_019589.2 +1 validated p.P730T 0.000 60 0% 37 35.1% - - benign(0) tolerated(0.4) neutral(0.016) NULL YLPM1 56252 genome.wustl.edu 37 14 75276084 75276084 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_019589.2 +1 validated p.P1508H 1.000 183 0% 83 13.3% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL MLH3 27030 genome.wustl.edu 37 14 75515838 75515838 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001040108.1 -1 reviewed p.R174I 1.000 114 0% 115 38.3% - - unknown(0) tolerated(0.26) - superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase C14orf1 11161 genome.wustl.edu 37 14 76117975 76117975 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007176.2 -1 validated p.F116V 1.000 161 0% 136 34.6% - - benign(0) tolerated(0.56) neutral(0.006) HMMPfam_Erg28 TGFB3 7043 genome.wustl.edu 37 14 76437591 76437591 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003239.2 -1 reviewed p.R175Q 0.991 62 0% 35 37.1% - - benign(0.005) tolerated(0.33) neutral(0.024) HMMPfam_TGFb_propeptide IFT43 112752 genome.wustl.edu 37 14 76549608 76549608 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_052873.2 +1 validated p.L166 0.003 134 0% 101 34.7% - - - - - NULL C14orf166B 145497 genome.wustl.edu 37 14 77319580 77319580 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_194287.2 +1 validated p.L279M 0.882 104 0% 101 38.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00368,superfamily_RNI-like SAMD15 161394 genome.wustl.edu 37 14 77844680 77844680 + Missense_Mutation SNP C C T rs113603159 TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001010860.1 +1 provisional p.R307W 0.000 45 0% 83 47% - - possibly_damaging(0.794) deleterious(0.01) deleterious(0.704) NULL SAMD15 161394 genome.wustl.edu 37 14 77845059 77845059 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001010860.1 +1 provisional p.S433Y 0.003 68 0% 91 35.2% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL NRXN3 9369 genome.wustl.edu 37 14 79433667 79433667 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004796.4 +1 reviewed p.N592S 1.000 92 0% 27 44.4% - - benign(0.033) deleterious(0.04) neutral(0.350) HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 DIO2 1734 genome.wustl.edu 37 14 80669266 80669266 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001007023.2 -1 reviewed p.Q232H 1.000 75 0% 25 24% - - benign(0) tolerated(0.41) neutral(0.015) HMMPfam_T4_deiodinase DIO2 1734 genome.wustl.edu 37 14 80669488 80669488 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001007023.2 -1 reviewed p.R158 1.000 72 0% 30 36.7% - - - - - HMMPfam_T4_deiodinase CEP128 145508 genome.wustl.edu 37 14 80993272 80993272 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152446.3 -1 validated p.R1005C 0.001 159 0% 59 39% - - unknown(0) tolerated(0.09) - NULL FLRT2 23768 genome.wustl.edu 37 14 86088862 86088862 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013231.4 +1 reviewed p.R335Q 1.000 84 0% 52 25% - - probably_damaging(0.997) tolerated(0.09) deleterious(0.762) HMMSmart_LRRCT,superfamily_SSF52058 GPR65 8477 genome.wustl.edu 37 14 88477411 88477411 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003608.3 +1 validated p.T74A 0.974 127 0% 45 20% - - benign(0.198) tolerated(0.38) neutral(0.037) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like GPR65 8477 genome.wustl.edu 37 14 88478086 88478086 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003608.3 +1 validated p.Y299H 0.084 179 0% 31 12.9% - - benign(0) tolerated(0.2) neutral(0.049) superfamily_Family A G protein-coupled receptor-like PTPN21 11099 genome.wustl.edu 37 14 88946509 88946509 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007039.3 -1 reviewed p.T422 0.000 67 0% 108 37% - - - - - NULL ZC3H14 79882 genome.wustl.edu 37 14 89039294 89039294 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024824.4 +1 validated p.S268 0.944 105 0% 81 32.1% - - - - - NULL EML5 161436 genome.wustl.edu 37 14 89082504 89082504 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_183387.2 -1 validated p.A1960V 1.000 118 0% 35 11.4% - - benign(0.009) tolerated(1) neutral(0.001) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 FOXN3 1112 genome.wustl.edu 37 14 89629151 89629151 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001085471.1 -1 reviewed p.S360 1.000 37 0% 39 17.9% - - - - - NULL FOXN3 1112 genome.wustl.edu 37 14 89647088 89647088 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001085471.1 -1 reviewed p.R292W 0.998 16 0% 19 42.1% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL KCNK13 56659 genome.wustl.edu 37 14 90651135 90651135 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022054.2 +1 reviewed p.G339R 0.998 26 0% 19 42.1% - - possibly_damaging(0.937) tolerated(0.06) deleterious(0.706) NULL PSMC1 5700 genome.wustl.edu 37 14 90729661 90729661 + Splice_Site SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002802.2 +1 reviewed e4-1 1.000 73 0% 59 39% - - - - - - C14orf102 55051 genome.wustl.edu 37 14 90755279 90755279 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017970.2 -1 validated p.E814* 0.028 69 0% 71 36.6% - - - - - NULL TTC7B 145567 genome.wustl.edu 37 14 91077134 91077134 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001010854.1 -1 provisional p.R640* 1.000 152 0% 165 32.7% - - - - - superfamily_TPR-like GPR68 8111 genome.wustl.edu 37 14 91701160 91701160 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003485.3 -1 validated p.Q89* 1.000 52 0% 81 40.7% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 CCDC88C 440193 genome.wustl.edu 37 14 91766395 91766395 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080414.2 -1 validated p.R1219C 0.999 34 0% 66 30.3% - - probably_damaging(0.986) deleterious(0) deleterious(0.879) NULL CCDC88C 440193 genome.wustl.edu 37 14 91805703 91805703 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080414.2 -1 validated p.S243I 1.000 188 0% 321 14% - - possibly_damaging(0.906) tolerated(0.42) neutral(0.373) superfamily_Prefoldin SMEK1 55671 genome.wustl.edu 37 14 91925204 91925204 + Missense_Mutation SNP C C T rs189558489 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032560.4 -1 validated p.V788M 1.000 240 0% 123 36.6% - - possibly_damaging(0.759) deleterious(0.04) deleterious(0.630) NULL TC2N 123036 genome.wustl.edu 37 14 92253902 92253902 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001128595.1 -1 validated p.L373I 1.000 180 0% 88 34.1% - - probably_damaging(0.999) tolerated(0.13) deleterious(0.743) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) TC2N 123036 genome.wustl.edu 37 14 92265403 92265403 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001128595.1 -1 validated p.H189 1.000 100 0% 28 28.6% - - - - - NULL FBLN5 10516 genome.wustl.edu 37 14 92353639 92353639 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006329.3 -1 reviewed p.T213A 0.001 105 0% 74 21.6% - - benign(0) tolerated(1) - HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin FBLN5 10516 genome.wustl.edu 37 14 92403520 92403520 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006329.3 -1 reviewed p.P50 0.173 90 0% 91 34.1% - - - - - HMMSmart_SM00179,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin TRIP11 9321 genome.wustl.edu 37 14 92465695 92465695 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004239.3 -1 reviewed p.S1594Y 1.000 216 0% 56 46.4% - - probably_damaging(0.961) tolerated(0.5) neutral(0.414) NULL TRIP11 9321 genome.wustl.edu 37 14 92472313 92472313 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004239.3 -1 reviewed p.K669N 1.000 97 0% 39 20.5% - - benign(0) tolerated(0.39) neutral(0.016) NULL CPSF2 53981 genome.wustl.edu 37 14 92600648 92600648 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000443529 +1 known p.G122* 1.000 252 0% 147 35.4% - - benign(0.333) tolerated(0.13) neutral(0.357) NULL CPSF2 53981 genome.wustl.edu 37 14 92620732 92620732 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017437.1 +1 validated p.E391* 1.000 143 0% 43 23.3% - - - - - NULL RIN3 79890 genome.wustl.edu 37 14 93022111 93022111 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024832.3 +1 validated p.V20 0.274 108 0% 84 35.7% - - - - - NULL GOLGA5 9950 genome.wustl.edu 37 14 93273266 93273266 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005113.2 +1 reviewed p.E244* 1.000 140 0% 66 39.4% - - - - - HMMPfam_Golgin_A5 BTBD7 55727 genome.wustl.edu 37 14 93717990 93717990 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001002860.2 -1 validated p.L587 0.079 121 0% 50 12% - - - - - NULL BTBD7 55727 genome.wustl.edu 37 14 93760885 93760885 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001002860.2 -1 validated p.A161T 1.000 65 0% 24 33.3% - - possibly_damaging(0.947) deleterious(0.02) deleterious(0.774) HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB IFI27L2 83982 genome.wustl.edu 37 14 94594225 94594225 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032036.2 -1 validated p.P102T 0.033 230 0% 250 36.4% - - probably_damaging(0.961) tolerated(0.18) neutral(0.460) NULL IFI27L2 83982 genome.wustl.edu 37 14 94594883 94594883 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032036.2 -1 validated p.A56V 0.034 58 0% 67 41.8% - - possibly_damaging(0.494) deleterious(0) deleterious(0.609) HMMPfam_Ifi-6-16 SERPINA4 5267 genome.wustl.edu 37 14 95030252 95030252 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006215.2 +1 provisional p.L145M 0.036 105 0% 69 14.5% - - possibly_damaging(0.931) deleterious(0) deleterious(0.822) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin DICER1 23405 genome.wustl.edu 37 14 95579430 95579430 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030621.3 -1 reviewed p.V680A 1.000 115 0% 50 34% - - benign(0.059) tolerated(0.14) neutral(0.254) HMMPfam_dsRNA_bind C14orf49 161176 genome.wustl.edu 37 14 95932343 95932343 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152592.3 -1 validated p.I184 0.996 64 0% 71 40.8% - - - - - superfamily_Spectrin repeat TCL6 27004 genome.wustl.edu 37 14 96135887 96135887 + Splice_Site SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000342332 +1 known NULL 0.004 96 0% 50 30% - - - - - - PAPOLA 10914 genome.wustl.edu 37 14 97031385 97031385 + Nonstop_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032632.3 +1 validated p.*746Q 1.000 204 0% 35 34.3% - - - - - NULL BCL11B 64919 genome.wustl.edu 37 14 99640651 99640651 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138576.2 -1 reviewed p.R841H 1.000 29 0% 79 32.9% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CYP46A1 10858 genome.wustl.edu 37 14 100184455 100184455 + Silent SNP C C T rs187491029 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006668.1 +1 reviewed p.I324 0.998 51 0% 77 35.1% - - - - - HMMPfam_p450,superfamily_Cytochrome_P450 DEGS2 123099 genome.wustl.edu 37 14 100615448 100615448 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_206918.2 -1 reviewed p.H228Y 1.000 10 0% 22 22.7% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_FA_desaturase SLC25A47 283600 genome.wustl.edu 37 14 100792539 100792539 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_207117.2 +1 validated p.V40I 0.388 43 0% 72 37.5% - - benign(0) tolerated(1) - superfamily_Mitochondrial carrier,HMMPfam_Mito_carr WDR25 79446 genome.wustl.edu 37 14 100934370 100934370 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024515.4 +1 validated p.V279M 0.974 63 0% 58 44.8% - - possibly_damaging(0.925) tolerated(0.22) neutral(0.415) superfamily_WD40 repeat-like RTL1 388015 genome.wustl.edu 37 14 101348103 101348103 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001134888.2 -1 reviewed p.N1008S 0.000 72 0% 123 27.6% - - benign(0.014) tolerated(0.35) neutral(0.021) NULL RTL1 388015 genome.wustl.edu 37 14 101349264 101349264 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001134888.2 -1 reviewed p.A621D 0.008 70 0% 118 34.7% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_DNA/RNA polymerases RTL1 388015 genome.wustl.edu 37 14 101350109 101350109 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001134888.2 -1 reviewed p.F339 0.820 61 0% 104 45.2% - - - - - NULL DIO3 1735 genome.wustl.edu 37 14 102028413 102028413 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001362.3 +1 reviewed p.L168I 1.000 21 0% 42 45.2% - - probably_damaging(0.992) deleterious(0.03) deleterious(0.812) HMMPfam_T4_deiodinase DYNC1H1 1778 genome.wustl.edu 37 14 102449831 102449831 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001376.4 +1 reviewed p.V449A 1.000 92 0% 70 34.3% - - benign(0.055) tolerated(0.24) neutral(0.041) HMMPfam_DHC_N1 DYNC1H1 1778 genome.wustl.edu 37 14 102463483 102463483 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001376.4 +1 reviewed p.R1226W 1.000 52 0% 27 51.9% - - possibly_damaging(0.904) deleterious(0) deleterious(0.803) NULL DYNC1H1 1778 genome.wustl.edu 37 14 102467510 102467510 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001376.4 +1 reviewed p.S1405Y 1.000 146 0% 118 39% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_DHC_N2 DYNC1H1 1778 genome.wustl.edu 37 14 102476409 102476409 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001376.4 +1 reviewed p.I2069 0.903 20 0% 32 28.1% - - - - - superfamily_SSF52540 DYNC1H1 1778 genome.wustl.edu 37 14 102481616 102481616 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001376.4 +1 reviewed p.R2397W 0.547 37 2.7% 41 41.5% - - benign(0.058) tolerated(0.09) neutral(0.300) superfamily_SSF52540 DYNC1H1 1778 genome.wustl.edu 37 14 102499417 102499417 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001376.4 +1 reviewed p.E3365D 1.000 231 0% 181 32.6% - - benign(0) tolerated(0.5) neutral(0.010) NULL DYNC1H1 1778 genome.wustl.edu 37 14 102500443 102500443 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001376.4 +1 reviewed p.A3515V 1.000 139 0% 124 28.2% - - benign(0.003) deleterious(0.03) neutral(0.364) NULL HSP90AA1 3320 genome.wustl.edu 37 14 102548099 102548099 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001017963.2 -1 validated p.P839S 1.000 190 0% 250 38.4% - - benign(0.323) deleterious(0.03) neutral(0.466) HMMPfam_HSP90 HSP90AA1 3320 genome.wustl.edu 37 14 102548753 102548753 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001017963.2 -1 validated p.S717F 1.000 177 0% 187 31% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HSP90,superfamily_HSP90 C-terminal domain (C-terminal part of Pfam 00183) ZNF839 55778 genome.wustl.edu 37 14 102798159 102798159 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018335.3 +1 validated p.S464 0.000 40 0% 50 42% - - - - - NULL TECPR2 9895 genome.wustl.edu 37 14 102916201 102916201 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014844.3 +1 validated p.L1104P 1.000 131 0% 157 36.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL AMN 81693 genome.wustl.edu 37 14 103395200 103395200 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030943.3 +1 reviewed p.R134H 1.000 16 0% 30 30% - - probably_damaging(0.995) tolerated(0.08) deleterious(0.758) NULL CDC42BPB 9578 genome.wustl.edu 37 14 103406423 103406423 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006035.3 -1 reviewed p.C1517 0.391 181 0% 277 35.7% - - - - - HMMSmart_CNH EXOC3L4 91828 genome.wustl.edu 37 14 103566680 103566680 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001077594.1 +1 validated p.R42C 0.000 10 0% 34 23.5% - - possibly_damaging(0.765) tolerated(0.14) deleterious(0.533) NULL TRMT61A 115708 genome.wustl.edu 37 14 103999151 103999151 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152307.2 +1 validated p.A188 0.070 9 0.000 42 0.238 - - - - - HMMPfam_GCD14,superfamily_S-adenosyl-L-methionine-dependent methyltransferases KLC1 3831 genome.wustl.edu 37 14 104153422 104153422 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001130107.1 +1 reviewed p.G552D 1.000 101 0% 147 33.3% - - benign(0.341) tolerated(0.15) neutral(0.348) NULL TDRD9 122402 genome.wustl.edu 37 14 104506621 104506621 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153046.2 +1 validated p.D1269N 0.998 143 0% 98 37.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ASPG 374569 genome.wustl.edu 37 14 104573520 104573520 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080464.1 +1 provisional p.G424D 0.961 17 0% 40 22.5% - - possibly_damaging(0.895) tolerated(0.07) deleterious(0.672) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat AKT1 207 genome.wustl.edu 37 14 105246525 105246525 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001014431.1 -1 reviewed p.R25 0.991 35 0% 116 39.7% - - - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like KIAA0284 283638 genome.wustl.edu 37 14 105352985 105352985 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001112726.1 +1 validated p.N803 0.001 12 0% 32 25% - - - - - NULL AHNAK2 113146 genome.wustl.edu 37 14 105404880 105404880 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138420.2 -1 validated p.K5636 0.000 68 0% 100 28% - - - - - NULL AHNAK2 113146 genome.wustl.edu 37 14 105410361 105410361 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138420.2 -1 validated p.K3809N 0.051 225 0% 320 35.6% - - unknown(0) deleterious(0.01) - NULL AHNAK2 113146 genome.wustl.edu 37 14 105412734 105412734 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138420.2 -1 validated p.Q3018 0.000 177 0% 223 35.9% - - - - - NULL AHNAK2 113146 genome.wustl.edu 37 14 105419663 105419663 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138420.2 -1 validated p.V709M 0.012 168 0% 228 38.2% - - probably_damaging(0.964) deleterious(0.03) deleterious(0.771) NULL GPR132 29933 genome.wustl.edu 37 14 105518059 105518059 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013345.2 -1 reviewed p.D139N 1.000 41 0% 80 26.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like BRF1 2972 genome.wustl.edu 37 14 105692471 105692471 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001519.2 -1 reviewed p.I328S 0.972 162 0% 339 35.7% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL BRF1 2972 genome.wustl.edu 37 14 105739059 105739059 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001519.2 -1 reviewed p.P146 0.126 29 0% 53 54.7% - - - - - HMMSmart_SM00385,superfamily_Cyclin-like,HMMPfam_TFIIB C14orf80 283643 genome.wustl.edu 37 14 105964989 105964989 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001134875.1 +1 validated p.A329 0.000 20 0% 54 44.4% - - - - - NULL IGHE 3497 genome.wustl.edu 37 14 106067911 106067911 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000390541 -1 known p.T52N 0.000 207 0% 331 10.3% - - possibly_damaging(0.624) deleterious(0.04) deleterious(0.567) HMMPfam_C1-set,HMMSmart_IGc1,superfamily_SSF48726 IGHD 3495 genome.wustl.edu 37 14 106311851 106311851 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000390556 -1 known p.S54P 0.000 260 0% 408 37.5% - - unknown(0) deleterious(0.03) - HMMPfam_C1-set,HMMSmart_SM00407,superfamily_Immunoglobulin IGHV3-7 28452 genome.wustl.edu 37 14 106518569 106518569 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000390598 -1 known p.G61E 1.000 267 0% 156 36.5% - - possibly_damaging(0.611) tolerated(0.09) deleterious(0.508) HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin IGHV@ 3509 genome.wustl.edu 37 14 106725475 106725475 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000390609 -1 known p.S26Y 0.315 106 0.9% 75 42.7% - - probably_damaging(0.985) deleterious(0) deleterious(0.877) HMMPfam_V-set,superfamily_Immunoglobulin IGHV4-28 28400 genome.wustl.edu 37 14 106780651 106780651 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000390612 -1 known p.I71 0.000 404 0% 492 21.5% - - - - - HMMSmart_IGv,HMMPfam_V-set,superfamily_SSF48726 IGHV3-53 28420 genome.wustl.edu 37 14 107048786 107048786 + Silent SNP G G A rs143408345 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000390627 -1 known p.Y78 0.002 356 0% 161 24.2% - - - - - HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin IGHV3-64 28414 genome.wustl.edu 37 14 107113744 107113744 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000454421 -1 known p.A117 0.178 180 0% 75 28% - - - - - HMMSmart_IGv,HMMPfam_V-set,superfamily_SSF48726 LOC727924 727924 genome.wustl.edu 37 15 22332515 22332515 + RNA SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NR_015416.1 +1 predicted NULL 0.034 497 0% 111 17.1% - - - - - - OR4N4 283694 genome.wustl.edu 37 15 22383069 22383069 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005241.1 +1 provisional p.M199I 0.956 399 0.3% 257 14.8% - - benign(0.003) tolerated(0.47) neutral(0.011) HMMPfam_7tm_1,superfamily_SSF81321 OR4N4 283694 genome.wustl.edu 37 15 22383382 22383382 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005241.1 +1 provisional p.R304* 0.004 97 0% 61 32.8% - - - - - superfamily_SSF81321 GOLGA6L1 283767 genome.wustl.edu 37 15 22743233 22743233 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001001413.3 +1 provisional p.R540* 0.260 632 0% 346 19.7% - - - - - NULL TUBGCP5 114791 genome.wustl.edu 37 15 22851110 22851110 + Splice_Site SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001102610.1 +1 validated e11+1 1.000 155 0% 95 41.1% - - - - - - CYFIP1 23191 genome.wustl.edu 37 15 22956130 22956130 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001033028.1 +1 validated p.A25V 1.000 125 0% 195 30.3% - - unknown(0) tolerated(0.38) - HMMPfam_FragX_IP CYFIP1 23191 genome.wustl.edu 37 15 22956240 22956240 + Missense_Mutation SNP G G A rs139191809 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001033028.1 +1 validated p.A62T 0.001 123 0% 172 36.6% - - unknown(0) - - HMMPfam_FragX_IP GOLGA8IP 283796 genome.wustl.edu 37 15 23259300 23259300 + RNA SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NR_024074.1 +1 provisional NULL 0.623 113 0% 96 18.8% - - - - - - MKRN3 7681 genome.wustl.edu 37 15 23811081 23811081 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005664.3 +1 reviewed p.A51V 0.000 6 0.000 28 0.357 - - possibly_damaging(0.763) tolerated(0.2) neutral(0.332) NULL MKRN3 7681 genome.wustl.edu 37 15 23812277 23812277 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005664.3 +1 reviewed p.R450* 0.070 149 0% 191 28.8% - - - - - NULL C15orf2 23742 genome.wustl.edu 37 15 24922938 24922938 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018958.2 +1 reviewed p.E642* 0.001 108 0% 170 39.4% - - - - - NULL SNRPN 6638 genome.wustl.edu 37 15 25220558 25220558 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003097.3 +1 reviewed p.C19 0.998 214 0% 123 28.5% - - - - - HMMPfam_LSM,HMMSmart_SM00651,superfamily_Sm-like ribonucleoproteins SNRPN 6638 genome.wustl.edu 37 15 25223426 25223426 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003097.3 +1 reviewed p.P216S 1.000 138 0% 87 40.2% - - unknown(0) tolerated(0.21) - NULL ATP10A 57194 genome.wustl.edu 37 15 25939999 25939999 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024490.3 -1 reviewed p.R1019W 0.983 44 0% 36 22.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF56784 ATP10A 57194 genome.wustl.edu 37 15 25953353 25953353 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024490.3 -1 reviewed p.I813 0.845 70 0% 112 40.2% - - - - - superfamily_SSF56784,superfamily_SSF81660 ATP10A 57194 genome.wustl.edu 37 15 25972316 25972316 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024490.3 -1 reviewed p.I280V 1.000 98 0% 164 12.2% - - benign(0.002) tolerated(1) - HMMPfam_E1-E2_ATPase,superfamily_SSF81653 GABRB3 2562 genome.wustl.edu 37 15 27017560 27017560 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000814.4 -1 reviewed p.E77K 1.000 20 0% 38 23.7% - - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like GABRA5 2558 genome.wustl.edu 37 15 27128335 27128335 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000810.3 +1 reviewed p.T77 0.003 55 0% 88 29.5% - - - - - HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD GABRA5 2558 genome.wustl.edu 37 15 27188485 27188485 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000810.3 +1 reviewed p.A334V 0.992 38 0% 55 27.3% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM OCA2 4948 genome.wustl.edu 37 15 28234794 28234794 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000275.2 -1 reviewed p.V379M 0.999 114 0% 104 31.7% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_CitMHS OCA2 4948 genome.wustl.edu 37 15 28277273 28277273 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000275.2 -1 reviewed p.R88 0.011 133 0% 82 43.9% - - - - - NULL HERC2 8924 genome.wustl.edu 37 15 28358367 28358367 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004667.4 -1 reviewed p.I4694 0.811 23 0% 52 32.7% - - - - - HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain HERC2 8924 genome.wustl.edu 37 15 28375399 28375399 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004667.4 -1 reviewed p.R4238 0.969 89 0% 117 30.8% - - - - - HMMPfam_RCC1,superfamily_RCC1/BLIP-II HERC2 8924 genome.wustl.edu 37 15 28397857 28397857 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004667.4 -1 reviewed p.D3622 0.990 54 0% 47 29.8% - - - - - NULL HERC2 8924 genome.wustl.edu 37 15 28443818 28443818 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004667.4 -1 reviewed p.L2605P 1.000 89 0% 94 30.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL HERC2 8924 genome.wustl.edu 37 15 28499552 28499552 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004667.4 -1 reviewed p.T995M 1.000 215 0% 241 41.1% - - benign(0.097) deleterious(0.01) neutral(0.413) NULL HERC2 8924 genome.wustl.edu 37 15 28511022 28511022 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004667.4 -1 reviewed p.I566T 1.000 49 0% 47 38.3% - - possibly_damaging(0.448) deleterious(0) deleterious(0.591) HMMPfam_RCC1,superfamily_RCC1/BLIP-II APBA2 321 genome.wustl.edu 37 15 29397594 29397594 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005503.3 +1 reviewed p.A513T 1.000 58 0% 101 34.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PID,HMMSmart_PTB,superfamily_SSF50729 TJP1 7082 genome.wustl.edu 37 15 30012620 30012620 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003257.3 -1 validated p.A902V 1.000 330 0% 194 33% - - probably_damaging(0.955) tolerated(0.5) neutral(0.409) NULL TJP1 7082 genome.wustl.edu 37 15 30020172 30020172 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003257.3 -1 validated p.R690H 1.000 194 0% 157 33.1% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases TRPM1 4308 genome.wustl.edu 37 15 31295039 31295039 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002420.4 -1 reviewed p.S1266 0.020 104 0% 60 33.3% - - - - - NULL CHRNA7 1139 genome.wustl.edu 37 15 32460303 32460303 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000746.3 +1 reviewed p.L385 1.000 36 0% 84 17.9% - - - - - HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM GREM1 26585 genome.wustl.edu 37 15 33023128 33023128 + Splice_Site SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000322805 +1 known e2-1 1.000 18 0% 24 29.2% - - - - - - FMN1 342184 genome.wustl.edu 37 15 33359114 33359114 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001103184.2 -1 validated p.Q324 0.000 62 0% 46 41.3% - - - - - NULL FMN1 342184 genome.wustl.edu 37 15 33359618 33359618 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001103184.2 -1 validated p.E156D 0.000 51 0% 30 26.7% - - unknown(0) tolerated(0.6) - NULL RYR3 6263 genome.wustl.edu 37 15 33603279 33603279 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001036.3 +1 validated p.E11 1.000 27 0% 36 16.7% - - - - - HMMPfam_Ins145_P3_rec RYR3 6263 genome.wustl.edu 37 15 34080414 34080414 + Splice_Site SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000361728 +1 known e67-1 0.000 43 0% 12 33.3% - - - - - - RYR3 6263 genome.wustl.edu 37 15 34080613 34080613 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001036.3 +1 validated p.L3262F 1.000 53 0% 23 34.8% - - probably_damaging(0.998) - - NULL RYR3 6263 genome.wustl.edu 37 15 34115226 34115226 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001036.3 +1 validated p.K3675N 1.000 226 0% 92 40.2% - - possibly_damaging(0.925) - - NULL RYR3 6263 genome.wustl.edu 37 15 34115270 34115270 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001036.3 +1 validated p.C3690F 1.000 201 0% 90 36.7% - - probably_damaging(0.998) - - NULL RYR3 6263 genome.wustl.edu 37 15 34130197 34130197 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001036.3 +1 validated p.P4006S 1.000 80 0% 42 33.3% - - possibly_damaging(0.729) - - NULL CHRM5 1133 genome.wustl.edu 37 15 34355947 34355947 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012125.3 +1 validated p.E343D 0.016 112 0% 58 41.4% - - benign(0.003) tolerated(0.4) neutral(0.016) HMMPfam_7tm_1,superfamily_SSF81321 C15orf24 56851 genome.wustl.edu 37 15 34388110 34388110 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020154.2 -1 validated p.S114 0.964 118 0% 88 34.1% - - - - - HMMPfam_DUF2012 GOLGA8A 23015 genome.wustl.edu 37 15 34679056 34679056 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000432566 -1 known p.A47T 0.196 168 0% 252 20.2% - - possibly_damaging(0.748) - - NULL ENSG00000248276 0 genome.wustl.edu 37 15 35377261 35377261 + RNA SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000514460 +1 known NULL 0.001 158 0% 248 50% - - - - - - MEIS2 4212 genome.wustl.edu 37 15 37388540 37388540 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_170675.2 -1 reviewed p.V113I 1.000 21 0% 38 36.8% - - possibly_damaging(0.712) deleterious(0.01) deleterious(0.663) NULL TMCO5A 145942 genome.wustl.edu 37 15 38229112 38229112 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152453.2 +1 provisional p.R69C 0.002 172 0% 72 40.3% - - benign(0) tolerated(0.18) neutral(0.056) NULL THBS1 7057 genome.wustl.edu 37 15 39876592 39876592 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003246.2 +1 reviewed p.T332I 0.999 121 0% 186 31.7% - - probably_damaging(0.991) tolerated(0.25) deleterious(0.481) HMMPfam_VWC,HMMSmart_SM00214 THBS1 7057 genome.wustl.edu 37 15 39885354 39885354 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003246.2 +1 reviewed p.D974G 1.000 38 0% 21 33.3% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_TSP_C,superfamily_Concanavalin A-like lectins/glucanases GPR176 11245 genome.wustl.edu 37 15 40093661 40093661 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007223.1 -1 provisional p.S407I 0.000 122 0% 74 27% - - benign(0.002) deleterious(0.05) neutral(0.345) NULL DISP2 85455 genome.wustl.edu 37 15 40662024 40662024 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033510.1 +1 reviewed p.Y1237 0.994 17 0% 35 28.6% - - - - - NULL ENSG00000246741 0 genome.wustl.edu 37 15 40849291 40849291 + RNA SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000501408 +1 known NULL 0.002 23 0% 14 50% - - - - - - CASC5 57082 genome.wustl.edu 37 15 40903694 40903694 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_170589.3 +1 validated p.N116S 0.888 19 0% 14 42.9% - - benign(0) deleterious(0) neutral(0.445) NULL VPS18 57617 genome.wustl.edu 37 15 41195262 41195262 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020857.2 +1 reviewed p.A882V 0.907 44 0% 87 41.4% - - benign(0.005) tolerated(0.55) neutral(0.007) NULL LOC100288995 100288995 genome.wustl.edu 37 15 41222009 41222009 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002343338.1 -1 model p.D575 0.012 10 0% 15 40% - - - - - NULL EXD1 161829 genome.wustl.edu 37 15 41501724 41501724 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152596.2 -1 provisional p.R112H 1.000 120 0.8% 86 41.9% - - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMSmart_SM00474,superfamily_Ribonuclease H-like NUSAP1 51203 genome.wustl.edu 37 15 41663804 41663804 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016359.3 +1 validated p.V310M 0.000 59 0% 50 40% - - benign(0) tolerated(0.13) neutral(0.253) NULL NDUFAF1 51103 genome.wustl.edu 37 15 41688707 41688707 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016013.2 -1 validated p.A184V 0.999 75 0% 87 26.4% - - probably_damaging(0.954) tolerated(0.06) deleterious(0.720) HMMPfam_CIA30 NDUFAF1 51103 genome.wustl.edu 37 15 41688709 41688709 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016013.2 -1 validated p.C183 1.000 73 0% 87 27.6% - - - - - HMMPfam_CIA30 LTK 4058 genome.wustl.edu 37 15 41796978 41796978 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002344.5 -1 reviewed p.D705N 1.000 46 0% 66 15.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) RPAP1 26015 genome.wustl.edu 37 15 41813184 41813184 + Missense_Mutation SNP C C T rs141822756 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015540.2 -1 reviewed p.R1067Q 0.013 22 0% 51 33.3% - - benign(0) tolerated(0.13) neutral(0.253) NULL RPAP1 26015 genome.wustl.edu 37 15 41815134 41815134 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015540.2 -1 reviewed p.P857 0.084 85 0% 100 41% - - - - - NULL RPAP1 26015 genome.wustl.edu 37 15 41823376 41823376 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015540.2 -1 reviewed p.R263I 0.987 99 1% 96 29.2% - - probably_damaging(0.956) deleterious(0.02) deleterious(0.782) HMMPfam_RPAP1_N JMJD7-PLA2G4B 8681 genome.wustl.edu 37 15 42127282 42127282 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005090.3 +1 validated p.F111 0.000 27 0% 59 25.4% - - - - - superfamily_Clavaminate synthase-like JMJD7 100137047 genome.wustl.edu 37 15 42129066 42129066 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001114632.1 +1 validated p.R264W 0.991 29 0% 54 35.2% - - probably_damaging(0.98) deleterious(0.01) deleterious(0.830) HMMSmart_SM00558,superfamily_Clavaminate synthase-like SPTBN5 51332 genome.wustl.edu 37 15 42145808 42145808 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016642.2 -1 validated p.A3283S 0.000 15 0% 25 56% - - benign(0.256) tolerated(0.6) neutral(0.031) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SPTBN5 51332 genome.wustl.edu 37 15 42159234 42159234 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016642.2 -1 validated p.K2100E 0.251 6 0.000 15 0.467 - - possibly_damaging(0.799) deleterious(0.02) deleterious(0.684) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat EHD4 30844 genome.wustl.edu 37 15 42211752 42211752 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_139265.3 -1 validated p.A194T 1.000 40 0% 48 33.3% - - probably_damaging(0.99) deleterious(0.04) deleterious(0.790) HMMPfam_Dynamin_N,superfamily_SSF52540 PLA2G4E 123745 genome.wustl.edu 37 15 42289390 42289390 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080490.1 -1 provisional p.R319W 1.000 21 0% 22 22.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00022,superfamily_FabD/lysophospholipase-like PLA2G4E 123745 genome.wustl.edu 37 15 42292188 42292188 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080490.1 -1 provisional p.R259H 0.933 56 0% 77 36.4% - - benign(0.076) tolerated(0.13) neutral(0.258) NULL PLA2G4D 283748 genome.wustl.edu 37 15 42362936 42362936 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178034.3 -1 validated p.Y674 0.748 94 0% 118 41.5% - - - - - HMMSmart_SM00022,superfamily_FabD/lysophospholipase-like PLA2G4D 283748 genome.wustl.edu 37 15 42374525 42374525 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178034.3 -1 validated p.R245S 0.261 81 0% 108 35.2% - - benign(0.001) tolerated(0.92) - NULL PLA2G4F 255189 genome.wustl.edu 37 15 42434800 42434800 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_213600.3 -1 validated p.A752D 0.113 39 0% 43 34.9% - - benign(0.005) tolerated(0.16) neutral(0.059) HMMSmart_SM00022,superfamily_FabD/lysophospholipase-like CAPN3 825 genome.wustl.edu 37 15 42691746 42691746 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000070.2 +1 reviewed p.T417M 1.000 76 0% 61 45.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_C2,HMMSmart_SM00230,superfamily_Cysteine proteinases ZFP106 64397 genome.wustl.edu 37 15 42743268 42743268 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022473.1 -1 provisional p.P378L 0.878 326 0% 123 34.1% - - benign(0.01) deleterious(0) neutral(0.445) NULL STARD9 57519 genome.wustl.edu 37 15 42979636 42979636 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_001129482.3 +1 model p.R1868C 0.000 45 0% 23 34.8% - - benign(0) - - NULL STARD9 57519 genome.wustl.edu 37 15 42984526 42984526 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_001129482.3 +1 model p.H3498N 0.000 16 0% 22 36.4% - - benign(0.082) - - NULL STARD9 57519 genome.wustl.edu 37 15 43011041 43011041 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_001129482.3 +1 model p.S4559N 1.000 85 0% 68 41.2% - - possibly_damaging(0.915) - - superfamily_Bet v1-like TTBK2 146057 genome.wustl.edu 37 15 43075755 43075755 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173500.3 -1 reviewed p.S353 0.998 73 0% 29 34.5% - - - - - NULL UBR1 197131 genome.wustl.edu 37 15 43324803 43324803 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_174916.2 -1 reviewed p.L739 1.000 74 0% 37 18.9% - - - - - NULL TMEM62 80021 genome.wustl.edu 37 15 43438738 43438738 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024956.3 +1 provisional p.S175I 0.339 196 0% 86 34.9% - - benign(0.012) tolerated(0.15) neutral(0.241) superfamily_SSF56300 CCNDBP1 23582 genome.wustl.edu 37 15 43483731 43483731 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012142.3 +1 reviewed p.L240I 1.000 93 0% 70 40% - - probably_damaging(0.968) tolerated(0.17) deleterious(0.469) NULL EPB42 2038 genome.wustl.edu 37 15 43500445 43500445 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000119.2 -1 reviewed p.A383D 0.005 85 0% 117 35% - - probably_damaging(0.956) deleterious(0.01) deleterious(0.805) HMMSmart_TGc,superfamily_SSF54001 TGM5 9333 genome.wustl.edu 37 15 43526989 43526989 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_201631.3 -1 reviewed p.S618Y 0.041 223 0% 243 34.6% - - benign(0) deleterious(0.02) neutral(0.383) superfamily_Transglutaminase two C-terminal domains TGM5 9333 genome.wustl.edu 37 15 43552747 43552747 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_201631.3 -1 reviewed p.S14I 0.134 68 0% 93 14% - - benign(0.026) tolerated(0.39) neutral(0.017) HMMPfam_Transglut_N,superfamily_E set domains LCMT2 9836 genome.wustl.edu 37 15 43621812 43621812 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014793.3 -1 reviewed p.P292 0.995 41 0% 64 20.3% - - - - - HMMPfam_LCM,superfamily_SSF53335 TUBGCP4 27229 genome.wustl.edu 37 15 43696621 43696621 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014444.2 +1 provisional p.R620H 1.000 102 0% 41 34.1% - - possibly_damaging(0.915) deleterious(0.02) deleterious(0.750) NULL TP53BP1 7158 genome.wustl.edu 37 15 43699769 43699769 + Splice_Site SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001141980.1 -1 validated e28-1 1.000 84 0% 38 47.4% - - - - - - TP53BP1 7158 genome.wustl.edu 37 15 43748904 43748904 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001141980.1 -1 validated p.P634 0.960 158 0% 80 32.5% - - - - - NULL TP53BP1 7158 genome.wustl.edu 37 15 43773165 43773165 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001141980.1 -1 validated p.E143* 0.174 374 0% 303 37.3% - - - - - NULL MAP1A 4130 genome.wustl.edu 37 15 43813866 43813866 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002373.5 +1 reviewed p.G65 0.996 222 0% 264 39% - - - - - superfamily_Metallo-hydrolase/oxidoreductase PPIP5K1 9677 genome.wustl.edu 37 15 43827016 43827016 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001130858.1 -1 validated p.F1386L 0.076 111 0% 63 38.1% - - benign(0.117) deleterious(0) neutral(0.454) NULL STRC 161497 genome.wustl.edu 37 15 43896572 43896572 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153700.2 -1 reviewed p.S1402Y 1.000 178 0% 110 25.5% - - possibly_damaging(0.925) deleterious(0.01) deleterious(0.779) NULL CKMT1A 548596 genome.wustl.edu 37 15 43988299 43988299 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001015001.1 +1 reviewed p.D243 1.000 414 0% 494 18.2% - - - - - HMMPfam_ATP-gua_Ptrans,superfamily_SSF55931 CKMT1A 548596 genome.wustl.edu 37 15 43988498 43988498 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001015001.1 +1 reviewed p.I271 1.000 401 0% 424 29.5% - - - - - HMMPfam_ATP-gua_Ptrans,superfamily_SSF55931 STRC 161497 genome.wustl.edu 37 15 44000999 44000999 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000381686 -1 known p.Q1169H 1.000 140 0% 95 33.7% - - - - - NULL PDIA3 2923 genome.wustl.edu 37 15 44060688 44060688 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005313.4 +1 reviewed p.R344C 1.000 152 0% 102 30.4% - - probably_damaging(0.997) tolerated(0.1) deleterious(0.752) NULL FRMD5 84978 genome.wustl.edu 37 15 44216405 44216405 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032892.3 -1 validated p.R69W 1.000 186 0% 102 26.5% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_FERM_N,HMMSmart_SM00295,superfamily_Ubiquitin-like EIF3J 8669 genome.wustl.edu 37 15 44846811 44846811 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003758.2 +1 validated p.R119W 0.890 146 0% 131 35.1% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_eIF3_subunit SPG11 80208 genome.wustl.edu 37 15 44861698 44861698 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025137.3 -1 reviewed p.R2161 0.049 130 0% 69 39.1% - - - - - NULL SPG11 80208 genome.wustl.edu 37 15 44876039 44876039 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025137.3 -1 reviewed p.D1947N 0.000 145 0% 85 48.2% - - benign(0.072) tolerated(0.96) neutral(0.005) NULL SPG11 80208 genome.wustl.edu 37 15 44890829 44890829 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025137.3 -1 reviewed p.A1298S 1.000 184 0% 119 37.8% - - possibly_damaging(0.538) tolerated(0.67) neutral(0.184) NULL SPG11 80208 genome.wustl.edu 37 15 44951502 44951502 + Splice_Site SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025137.3 -1 reviewed e3-1 1.000 108 0% 85 37.6% - - - - - - PATL2 197135 genome.wustl.edu 37 15 44961567 44961567 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001145112.1 -1 validated p.R325 0.002 51 0% 74 40.5% - - - - - HMMPfam_PAT1 DUOX2 50506 genome.wustl.edu 37 15 45402170 45402170 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014080.4 -1 reviewed p.S350I 1.000 141 0% 209 39.2% - - possibly_damaging(0.459) tolerated(0.05) deleterious(0.496) HMMPfam_An_peroxidase,superfamily_Heme-dependent peroxidases DUOX1 53905 genome.wustl.edu 37 15 45445640 45445640 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017434.3 +1 reviewed p.L1163I 1.000 163 0% 198 31.3% - - possibly_damaging(0.864) deleterious(0.02) deleterious(0.718) HMMPfam_Ferric_reduct DUOX1 53905 genome.wustl.edu 37 15 45454149 45454149 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017434.3 +1 reviewed p.R1357I 0.457 39 0% 80 26.3% - - benign(0) tolerated(0.19) neutral(0.050) HMMPfam_FAD_binding_8,superfamily_Riboflavin synthase domain-like SEMA6D 80031 genome.wustl.edu 37 15 48052587 48052587 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153618.1 +1 reviewed p.R66* 1.000 145 0% 53 34% - - - - - HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain SEMA6D 80031 genome.wustl.edu 37 15 48054483 48054483 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153618.1 +1 reviewed p.R209C 0.990 99 0% 31 51.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain MYEF2 50804 genome.wustl.edu 37 15 48441449 48441449 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016132.3 -1 validated p.D500N 1.000 177 0.6% 40 30% - - possibly_damaging(0.889) tolerated(0.07) deleterious(0.668) superfamily_RNA-binding domain RBD FBN1 2200 genome.wustl.edu 37 15 48748865 48748865 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000138.4 -1 reviewed p.F1797L 1.000 157 0% 48 33.3% - - probably_damaging(0.994) deleterious(0.02) deleterious(0.835) HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,PatternScan_EGF_2,HMMPfam_EGF_CA,superfamily_EGF/Laminin FBN1 2200 genome.wustl.edu 37 15 48766840 48766840 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000138.4 -1 reviewed p.N1324 1.000 135 0% 56 30.4% - - - - - HMMSmart_SM00179,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin FBN1 2200 genome.wustl.edu 37 15 48797345 48797345 + Splice_Site SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000138.4 -1 reviewed e15-1 1.000 163 0% 44 38.6% - - - - - - CEP152 22995 genome.wustl.edu 37 15 49081012 49081012 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014985.2 -1 provisional p.A387T 0.692 150 0% 61 26.2% - - possibly_damaging(0.8) tolerated(0.36) neutral(0.321) NULL SHC4 399694 genome.wustl.edu 37 15 49160043 49160043 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_203349.3 -1 validated p.Y306 0.999 210 0% 121 33.9% - - - - - HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like SHC4 399694 genome.wustl.edu 37 15 49254676 49254676 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_203349.3 -1 validated p.R179 0.000 67 0% 101 32.7% - - - - - superfamily_PH domain-like SECISBP2L 9728 genome.wustl.edu 37 15 49304909 49304909 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014701.2 -1 provisional p.S511Y 1.000 194 0% 69 33.3% - - possibly_damaging(0.708) deleterious(0.04) deleterious(0.605) NULL COPS2 9318 genome.wustl.edu 37 15 49420271 49420271 + Missense_Mutation SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001143887.1 -1 validated p.D410V 1.000 164 0% 48 39.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) "HMMPfam_PCI,HMMSmart_SM00088,superfamily_""Winged helix"" DNA-binding domain" FGF7 2252 genome.wustl.edu 37 15 49776690 49776690 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002009.3 +1 reviewed p.A192T 1.000 52 0% 14 35.7% - - benign(0.065) tolerated(0.35) neutral(0.025) HMMSmart_SM00442,superfamily_Cytokine HDC 3067 genome.wustl.edu 37 15 50549737 50549737 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002112.2 -1 validated p.S109I 1.000 64 0% 42 42.9% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Pyridoxal_deC,superfamily_PyrdxlP-dep_Trfase_major TRPM7 54822 genome.wustl.edu 37 15 50902126 50902126 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017672.4 -1 reviewed p.I771M 1.000 261 0% 83 34.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TRPM7 54822 genome.wustl.edu 37 15 50906437 50906437 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017672.4 -1 reviewed p.K506N 1.000 110 0% 51 27.5% - - probably_damaging(1) deleterious(0.05) deleterious(0.845) NULL AP4E1 23431 genome.wustl.edu 37 15 51242073 51242073 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007347.3 +1 validated p.S456* 1.000 269 0% 72 50% - - - - - HMMPfam_Adaptin_N,superfamily_ARM-type_fold AP4E1 23431 genome.wustl.edu 37 15 51290018 51290018 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007347.3 +1 validated p.N948H 0.711 46 0% 24 33.3% - - possibly_damaging(0.882) deleterious(0.01) deleterious(0.750) HMMPfam_Coatamer_beta_C AP4E1 23431 genome.wustl.edu 37 15 51294832 51294832 + Missense_Mutation SNP G G C rs3825798 byCluster;byFrequency;byHapMap;by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007347.3 +1 validated p.Q1129H 1.000 136 0% 59 49.2% - - benign(0) tolerated(0.91) - NULL DMXL2 23312 genome.wustl.edu 37 15 51743895 51743895 + Splice_Site SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015263.3 -1 validated e41-1 1.000 136 0.7% 54 29.6% - - - - - - LEO1 123169 genome.wustl.edu 37 15 52242060 52242060 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138792.2 -1 provisional p.G581 0.960 61 0% 43 30.2% - - - - - HMMPfam_Leo1 MYO5C 55930 genome.wustl.edu 37 15 52510801 52510801 + Missense_Mutation SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018728.2 -1 validated p.D1290V 0.014 263 0% 89 30.3% - - benign(0.014) tolerated(0.27) neutral(0.034) NULL MYO5A 4644 genome.wustl.edu 37 15 52688555 52688555 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000259.3 -1 reviewed p.C453 1.000 126 0% 56 44.6% - - - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases UNC13C 440279 genome.wustl.edu 37 15 54305334 54305334 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080534.1 +1 provisional p.E78D 1.000 119 0% 22 22.7% - - benign(0.014) deleterious(0) neutral(0.445) NULL UNC13C 440279 genome.wustl.edu 37 15 54792276 54792276 + Splice_Site SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080534.1 +1 provisional e20-1 1.000 242 0% 59 10.2% - - - - - - PIGB 9488 genome.wustl.edu 37 15 55619759 55619759 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004855.4 +1 reviewed p.L150M 0.942 195 0% 145 46.9% - - probably_damaging(0.973) deleterious(0.03) deleterious(0.779) HMMPfam_Glyco_transf_22 CCPG1 9236 genome.wustl.edu 37 15 55657404 55657404 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004748.3 -1 validated p.E270D 0.000 84 0% 46 10.9% - - unknown(0) tolerated(0.5) - NULL PRTG 283659 genome.wustl.edu 37 15 55964816 55964816 + Missense_Mutation SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173814.4 -1 validated p.E623V 1.000 65 1.5% 40 27.5% - - possibly_damaging(0.513) tolerated(0.36) neutral(0.192) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like NEDD4 4734 genome.wustl.edu 37 15 56208075 56208075 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198400.2 -1 validated p.L319I 1.000 107 0% 69 34.8% - - unknown(0) deleterious(0.01) - NULL ZNF280D 54816 genome.wustl.edu 37 15 56993231 56993231 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017661.2 -1 validated p.T94M 0.778 191 0% 51 29.4% - - benign(0.092) tolerated(0.1) neutral(0.293) NULL ZNF280D 54816 genome.wustl.edu 37 15 56996377 56996377 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017661.2 -1 validated p.D39 1.000 310 0% 126 35.7% - - - - - NULL POLR2M 81488 genome.wustl.edu 37 15 58000950 58000950 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015532.3 +1 reviewed p.I51S 0.986 42 0% 48 33.3% - - possibly_damaging(0.597) deleterious(0) deleterious(0.651) NULL LIPC 3990 genome.wustl.edu 37 15 58838141 58838141 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000236.2 +1 reviewed p.L259F 1.000 61 0% 70 34.3% - - possibly_damaging(0.929) tolerated(0.12) deleterious(0.637) HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases SLTM 79811 genome.wustl.edu 37 15 59181746 59181746 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024755.2 -1 validated p.R696H 0.998 331 0% 87 42.5% - - unknown(0) deleterious(0.01) - NULL NARG2 79664 genome.wustl.edu 37 15 60747261 60747261 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024611.4 -1 validated p.G295E 1.000 187 0% 58 43.1% - - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL RORA 6095 genome.wustl.edu 37 15 60803736 60803736 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_134260.2 -1 reviewed p.R203H 1.000 96 0% 58 27.6% - - probably_damaging(0.984) deleterious(0.03) deleterious(0.795) NULL RORA 6095 genome.wustl.edu 37 15 60907141 60907141 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002943.3 -1 reviewed p.I75V 0.000 46 0% 17 35.3% - - benign(0) tolerated(0.14) neutral(0.249) NULL VPS13C 54832 genome.wustl.edu 37 15 62174922 62174922 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020821.1 -1 validated p.K3166T 0.974 133 0% 31 19.4% - - probably_damaging(0.991) tolerated(0.55) neutral(0.451) NULL VPS13C 54832 genome.wustl.edu 37 15 62207938 62207938 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020821.1 -1 validated p.R2780L 0.998 99 0% 43 27.9% - - probably_damaging(1) tolerated(0.16) deleterious(0.559) HMMPfam_DUF1162 VPS13C 54832 genome.wustl.edu 37 15 62226459 62226459 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020821.1 -1 validated p.E1943* 1.000 128 0% 44 36.4% - - - - - NULL TLN2 83660 genome.wustl.edu 37 15 62942308 62942308 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015059.2 +1 reviewed p.S54 0.004 199 0% 103 29.1% - - - - - NULL TPM1 7168 genome.wustl.edu 37 15 63362098 63362098 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001018008.1 +1 reviewed p.R232C 1.000 165 0% 89 39.3% - - benign(0.298) deleterious(0) deleterious(0.536) HMMPfam_Tropomyosin LACTB 114294 genome.wustl.edu 37 15 63419746 63419746 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032857.2 +1 reviewed p.E270 0.000 82 0% 85 47.1% - - - - - HMMPfam_Beta-lactamase,superfamily_beta-lactamase/transpeptidase-like CA12 771 genome.wustl.edu 37 15 63632965 63632965 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001218.3 -1 reviewed p.P181 0.000 167 0% 120 40% - - - - - HMMPfam_Carb_anhydrase,superfamily_Carbonic anhydrase HERC1 8925 genome.wustl.edu 37 15 63943489 63943489 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003922.3 -1 reviewed p.G3503 0.898 149 0% 56 32.1% - - - - - superfamily_WD40 repeat-like HERC1 8925 genome.wustl.edu 37 15 63964811 63964811 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003922.3 -1 reviewed p.T2643 0.014 166 0% 72 33.3% - - - - - NULL HERC1 8925 genome.wustl.edu 37 15 63967258 63967258 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003922.3 -1 reviewed p.P2377S 1.000 125 0% 43 48.8% - - possibly_damaging(0.814) - - NULL PPIB 5479 genome.wustl.edu 37 15 64448988 64448988 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000942.4 -1 reviewed p.T155M 0.994 171 0% 299 13.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pro_isomerase,superfamily_CSA_PPIase PLEKHO2 80301 genome.wustl.edu 37 15 65157702 65157702 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025201.4 +1 validated p.G363V 0.009 64 0% 87 35.6% - - possibly_damaging(0.948) tolerated(0.07) deleterious(0.710) NULL SPG21 51324 genome.wustl.edu 37 15 65262544 65262544 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001127889.1 -1 reviewed p.A157T 0.990 80 0% 53 15.1% - - benign(0.003) tolerated(0.47) neutral(0.011) superfamily_SSF53474 OSTBETA 123264 genome.wustl.edu 37 15 65343889 65343889 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178859.3 +1 validated p.A45V 0.000 167 0% 201 38.3% - - benign(0) tolerated(0.56) neutral(0.006) NULL CILP 8483 genome.wustl.edu 37 15 65490022 65490022 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003613.3 -1 reviewed p.R868W 0.006 104 0% 95 30.5% - - probably_damaging(0.997) deleterious(0.02) deleterious(0.849) NULL CILP 8483 genome.wustl.edu 37 15 65490345 65490345 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003613.3 -1 reviewed p.R760Q 1.000 65 1.5% 84 40.5% - - probably_damaging(0.998) tolerated(0.62) deleterious(0.478) NULL IGDCC3 9543 genome.wustl.edu 37 15 65627138 65627138 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004884.3 -1 validated p.V251M 1.000 22 0% 48 41.7% - - probably_damaging(0.997) tolerated(0.06) deleterious(0.788) HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Immunoglobulin PTPLAD1 51495 genome.wustl.edu 37 15 65868686 65868686 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016395.2 +1 validated p.R353H 1.000 72 0% 33 48.5% - - unknown(0) tolerated(0.27) - HMMPfam_PTPLA DENND4A 10260 genome.wustl.edu 37 15 65964167 65964167 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001144823.1 -1 validated p.A1475V 0.970 153 0% 59 15.3% - - benign(0) deleterious(0.05) neutral(0.345) NULL DENND4A 10260 genome.wustl.edu 37 15 65988809 65988809 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001144823.1 -1 validated p.S992R 1.000 177 0% 38 39.5% - - benign(0.347) tolerated(0.15) neutral(0.351) NULL DENND4A 10260 genome.wustl.edu 37 15 66007865 66007865 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001144823.1 -1 validated p.V635A 1.000 136 0% 50 28% - - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL MEGF11 84465 genome.wustl.edu 37 15 66273204 66273204 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032445.2 -1 validated p.G225V 1.000 7 0.000 19 0.263 - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00180,superfamily_EGF/Laminin DIS3L 115752 genome.wustl.edu 37 15 66599165 66599165 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_133375.3 +1 validated p.Q16 1.000 105 0% 67 37.3% - - - - - NULL LCTL 197021 genome.wustl.edu 37 15 66857622 66857622 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_207338.2 -1 validated p.E28* 0.986 20 0% 50 28% - - - - - NULL MAP2K5 5607 genome.wustl.edu 37 15 67855620 67855620 + Splice_Site SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_145160.1 +1 reviewed e3-1 1.000 211 0% 116 36.2% - - - - - - MAP2K5 5607 genome.wustl.edu 37 15 67893070 67893070 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_145160.1 +1 reviewed p.N176 0.993 177 0% 58 27.6% - - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase SKOR1 390598 genome.wustl.edu 37 15 68118364 68118364 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001031807.1 +1 provisional p.Y57* 0.998 27 0% 41 51.2% - - - - - HMMPfam_Ski_Sno,superfamily_Putativ_DNA_bind SKOR1 390598 genome.wustl.edu 37 15 68123211 68123211 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001031807.1 +1 provisional p.I813 0.968 263 0% 396 32.1% - - - - - NULL PIAS1 8554 genome.wustl.edu 37 15 68475967 68475967 + Splice_Site SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016166.1 +1 reviewed e13-1 1.000 47 0% 17 29.4% - - - - - - ITGA11 22801 genome.wustl.edu 37 15 68642968 68642968 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001004439.1 -1 reviewed p.I349 1.000 123 0% 102 29.4% - - - - - HMMSmart_SM00327,superfamily_vWA-like,superfamily_Integrin alpha N-terminal domain ENSG00000245371 0 genome.wustl.edu 37 15 69689538 69689538 + RNA SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000500759 -1 known NULL 0.000 13 0% 16 37.5% - - - - - - KIF23 9493 genome.wustl.edu 37 15 69714463 69714463 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138555.1 +1 reviewed p.R150Q 1.000 117 0% 97 30.9% - - possibly_damaging(0.921) tolerated(0.08) deleterious(0.671) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases UACA 55075 genome.wustl.edu 37 15 70959098 70959098 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018003.2 -1 validated p.E1309* 1.000 180 0% 69 31.9% - - - - - NULL UACA 55075 genome.wustl.edu 37 15 70960379 70960379 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018003.2 -1 validated p.E882* 0.989 155 0% 66 31.8% - - - - - NULL LARP6 55323 genome.wustl.edu 37 15 71124472 71124472 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018357.2 -1 validated p.P465 0.692 56 0% 62 37.1% - - - - - NULL LARP6 55323 genome.wustl.edu 37 15 71125078 71125078 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018357.2 -1 validated p.F263 0.934 125 0% 138 41.3% - - - - - NULL THSD4 79875 genome.wustl.edu 37 15 71952943 71952943 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024817.2 +1 provisional p.T409 0.283 97 0% 41 31.7% - - - - - NULL THSD4 79875 genome.wustl.edu 37 15 71952961 71952961 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024817.2 +1 provisional p.S415 0.006 87 0% 49 34.7% - - - - - HMMPfam_ADAM_spacer1 GRAMD2 196996 genome.wustl.edu 37 15 72455997 72455997 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001012642.2 -1 validated p.D234 1.000 131 0% 117 36.8% - - - - - NULL TMEM202 338949 genome.wustl.edu 37 15 72700113 72700113 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080462.1 +1 provisional p.S234* 0.210 111 0% 56 35.7% - - - - - NULL ADPGK 83440 genome.wustl.edu 37 15 73067308 73067308 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031284.4 -1 validated p.F122L 1.000 106 0% 63 41.3% - - possibly_damaging(0.872) tolerated(0.13) deleterious(0.592) HMMPfam_ADP_PFK_GK,superfamily_SSF53613 HCN4 10021 genome.wustl.edu 37 15 73635795 73635795 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005477.2 -1 reviewed p.T380 0.998 116 0% 95 38.9% - - - - - HMMPfam_Ion_trans,superfamily_SSF81324 PML 5371 genome.wustl.edu 37 15 74326863 74326863 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033238.2 +1 reviewed p.E568K 0.098 44 0% 78 10.3% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL STRA6 64220 genome.wustl.edu 37 15 74473698 74473698 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001142617.1 -1 reviewed p.A541V 0.021 40 0% 65 33.8% - - benign(0.041) tolerated(1) neutral(0.003) NULL STRA6 64220 genome.wustl.edu 37 15 74476212 74476212 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001142617.1 -1 reviewed p.A429S 1.000 107 0% 115 42.6% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL STRA6 64220 genome.wustl.edu 37 15 74487706 74487706 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001142617.1 -1 reviewed p.T178 0.107 18 0% 38 44.7% - - - - - NULL CCDC33 80125 genome.wustl.edu 37 15 74560740 74560740 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025055.3 +1 validated p.V163I 0.001 37 0% 57 10.5% - - possibly_damaging(0.888) tolerated(0.17) neutral(0.406) NULL CYP11A1 1583 genome.wustl.edu 37 15 74631644 74631644 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000781.2 -1 reviewed p.I390 0.997 73 0% 88 44.3% - - - - - HMMPfam_p450,superfamily_Cytochrome P450 CYP11A1 1583 genome.wustl.edu 37 15 74635409 74635409 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000781.2 -1 reviewed p.G300V 0.999 63 0% 72 40.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_p450,superfamily_Cytochrome P450 SEMA7A 8482 genome.wustl.edu 37 15 74709056 74709056 + Splice_Site SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003612.3 -1 reviewed e7-1 1.000 258 0% 381 38.6% - - - - - - ARID3B 10620 genome.wustl.edu 37 15 74882179 74882179 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006465.2 +1 reviewed p.I239T 1.000 89 0% 96 38.5% - - probably_damaging(0.955) deleterious(0.01) deleterious(0.804) HMMPfam_ARID,HMMSmart_SM00501,superfamily_ARID-like CYP1A1 1543 genome.wustl.edu 37 15 75014698 75014698 + Splice_Site SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000268062 -1 known e2-1 0.126 153 0% 154 9.7% - - - - - - CYP1A1 1543 genome.wustl.edu 37 15 75014767 75014767 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000499.3 -1 reviewed p.F224 0.934 104 0% 118 38.1% - - - - - HMMPfam_p450,superfamily_Cytochrome P450 CPLX3 594855 genome.wustl.edu 37 15 75119188 75119188 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001030005.2 +1 validated p.Q48H 1.000 60 0% 148 33.1% - - possibly_damaging(0.926) deleterious(0) deleterious(0.819) NULL CPLX3 594855 genome.wustl.edu 37 15 75122501 75122501 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001030005.2 +1 validated p.A95T 1.000 55 0% 124 45.2% - - benign(0.058) deleterious(0.02) neutral(0.387) NULL SCAMP2 10066 genome.wustl.edu 37 15 75146958 75146958 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005697.3 -1 reviewed p.P30 0.001 68 0% 126 39.7% - - - - - NULL SCAMP5 192683 genome.wustl.edu 37 15 75310802 75310802 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138967.3 +1 validated p.S147P 0.968 123 0% 149 25.5% - - possibly_damaging(0.836) tolerated(0.06) deleterious(0.642) HMMPfam_SCAMP C15orf39 56905 genome.wustl.edu 37 15 75500555 75500555 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015492.4 +1 validated p.A722 0.000 49 0% 90 41.1% - - - - - NULL C15orf39 56905 genome.wustl.edu 37 15 75501157 75501157 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015492.4 +1 validated p.R923H 1.000 8 0.000 20 0.250 - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL MAN2C1 4123 genome.wustl.edu 37 15 75648663 75648663 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006715.2 -1 validated p.V955 0.040 17 0% 49 40.8% - - - - - HMMPfam_Glyco_hydro_38C SIN3A 25942 genome.wustl.edu 37 15 75664541 75664541 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001145357.1 -1 reviewed p.R1201C 1.000 105 0% 137 14.6% - - probably_damaging(0.998) tolerated(0.17) deleterious(0.533) NULL SNUPN 10073 genome.wustl.edu 37 15 75913313 75913313 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001042581.1 -1 reviewed p.R27H 1.000 91 0% 113 31.9% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL CSPG4 1464 genome.wustl.edu 37 15 75974771 75974771 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001897.4 -1 reviewed p.L1605I 1.000 26 0% 47 48.9% - - probably_damaging(0.996) tolerated(0.06) deleterious(0.784) NULL CSPG4 1464 genome.wustl.edu 37 15 75981759 75981759 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001897.4 -1 reviewed p.V549 0.508 12 0% 30 46.7% - - - - - NULL NRG4 145957 genome.wustl.edu 37 15 76301562 76301562 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138573.3 -1 validated p.T28I 1.000 106 0% 39 48.7% - - benign(0.304) deleterious(0) deleterious(0.539) HMMPfam_EGF,HMMSmart_EGF,superfamily_SSF57196 SCAPER 49855 genome.wustl.edu 37 15 77064234 77064234 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020843.2 -1 validated p.R365Q 0.000 123 0% 43 32.6% - - benign(0.001) tolerated(0.46) neutral(0.012) NULL PSTPIP1 9051 genome.wustl.edu 37 15 77328160 77328160 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003978.3 +1 reviewed p.T335A 0.018 13 0% 42 42.9% - - benign(0) tolerated(0.94) - NULL SGK269 79834 genome.wustl.edu 37 15 77425402 77425402 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024776.2 -1 validated p.A1341V 1.000 60 0% 14 57.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL LINGO1 84894 genome.wustl.edu 37 15 77906745 77906745 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032808.5 -1 validated p.A502T 1.000 51 0% 113 41.6% - - probably_damaging(0.991) deleterious(0.02) deleterious(0.827) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin LINGO1 84894 genome.wustl.edu 37 15 77907237 77907237 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032808.5 -1 validated p.R338C 1.000 107 0% 143 34.3% - - possibly_damaging(0.939) deleterious(0) deleterious(0.829) HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like IREB2 3658 genome.wustl.edu 37 15 78732162 78732162 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004136.2 +1 validated p.E15D 1.000 142 0% 175 41.7% - - benign(0.001) tolerated(0.12) neutral(0.261) NULL IREB2 3658 genome.wustl.edu 37 15 78755408 78755408 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004136.2 +1 validated p.R84H 1.000 309 0% 137 30.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Aconitase iron-sulfur domain IREB2 3658 genome.wustl.edu 37 15 78782837 78782837 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004136.2 +1 validated p.Y717C 0.996 191 0% 101 31.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Aconitase CHRNA5 1138 genome.wustl.edu 37 15 78878990 78878990 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000745.2 +1 provisional p.E88K 1.000 89 1.1% 35 40% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD CHRNA5 1138 genome.wustl.edu 37 15 78882364 78882364 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000745.2 +1 provisional p.D211Y 1.000 220 0.5% 91 30.8% - - probably_damaging(0.986) deleterious(0) deleterious(0.879) HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD CHRNB4 1143 genome.wustl.edu 37 15 78927919 78927919 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000750.3 -1 validated p.R22 0.007 202 0% 298 33.6% - - - - - NULL FAH 2184 genome.wustl.edu 37 15 80452102 80452102 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000137.1 +1 reviewed p.T66I 0.032 126 0% 125 41.6% - - benign(0.065) deleterious(0.02) neutral(0.388) HMMPfam_DUF1969,superfamily_Fumarylacetoacetate hydrolase FAH N-terminal domain ARNT2 9915 genome.wustl.edu 37 15 80845057 80845057 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014862.3 +1 reviewed p.D344G 0.999 107 0% 60 31.7% - - benign(0.362) deleterious(0.02) deleterious(0.498) HMMSmart_SM00091,superfamily_PYP-like sensor domain (PAS domain) KIAA1199 57214 genome.wustl.edu 37 15 81172169 81172169 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018689.1 +1 validated p.G118 0.946 60 0% 44 45.5% - - - - - HMMPfam_G8 IL16 3603 genome.wustl.edu 37 15 81575014 81575014 + Silent SNP C C T rs143808111 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_172217.3 +1 reviewed p.S372 0.345 39 0% 61 44.3% - - - - - HMMSmart_SM00228,superfamily_PDZ domain-like HOMER2 9455 genome.wustl.edu 37 15 83527863 83527863 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_199330.1 -1 reviewed p.D149N 0.999 133 0% 109 39.4% - - possibly_damaging(0.796) deleterious(0.03) deleterious(0.663) NULL TM6SF1 53346 genome.wustl.edu 37 15 83788426 83788426 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_023003.3 +1 validated p.A131T 0.999 301 0% 163 10.4% - - benign(0.009) tolerated(0.7) neutral(0.003) NULL TM6SF1 53346 genome.wustl.edu 37 15 83793458 83793458 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_023003.3 +1 validated p.R213I 1.000 183 0% 78 33.3% - - possibly_damaging(0.765) tolerated(0.31) neutral(0.311) NULL ZSCAN2 54993 genome.wustl.edu 37 15 85164393 85164393 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_181877.3 +1 reviewed p.A323T 0.026 89 0% 73 45.2% - - probably_damaging(0.972) tolerated(0.62) neutral(0.418) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZSCAN2 54993 genome.wustl.edu 37 15 85165037 85165037 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_181877.3 +1 reviewed p.K537N 0.998 72 0% 73 34.2% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers NMB 4828 genome.wustl.edu 37 15 85198578 85198578 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_205858.1 -1 validated p.R130C 0.000 133 0% 203 39.4% - - probably_damaging(0.99) - - NULL ALPK3 57538 genome.wustl.edu 37 15 85405949 85405949 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020778.4 +1 validated p.R1607* 1.000 92 0% 116 34.5% - - - - - HMMPfam_Alpha_kinase,superfamily_Protein kinase-like (PK-like) AKAP13 11214 genome.wustl.edu 37 15 86122209 86122209 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006738.4 +1 reviewed p.A304T 0.970 84 0% 35 31.4% - - benign(0.004) deleterious(0) neutral(0.445) NULL AGBL1 123624 genome.wustl.edu 37 15 86814938 86814938 + Splice_Site SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152336.2 +1 validated e13+1 1.000 195 0% 69 39.1% - - - - - - DET1 55070 genome.wustl.edu 37 15 89074317 89074317 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017996.3 -1 validated p.R218H 0.997 92 0% 50 42% - - probably_damaging(0.997) deleterious(0.02) deleterious(0.849) HMMPfam_Det1 DET1 55070 genome.wustl.edu 37 15 89074662 89074662 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017996.3 -1 validated p.A103V 1.000 69 0% 56 26.8% - - probably_damaging(0.996) tolerated(0.38) deleterious(0.479) NULL ACAN 176 genome.wustl.edu 37 15 89390595 89390595 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013227.3 +1 reviewed p.Y517 0.928 18 0% 28 39.3% - - - - - HMMPfam_Xlink,HMMSmart_SM00445,PatternScan_LINK_1,superfamily_C-type lectin-like ACAN 176 genome.wustl.edu 37 15 89415280 89415280 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013227.3 +1 reviewed p.I2269 0.983 72 0% 91 27.5% - - - - - HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like MFGE8 4240 genome.wustl.edu 37 15 89449890 89449890 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005928.2 -1 validated p.F169 0.732 57 0% 95 27.4% - - - - - HMMPfam_F5_F8_type_C,HMMSmart_SM00231,superfamily_Galactose-binding domain-like ABHD2 11057 genome.wustl.edu 37 15 89719209 89719209 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007011.7 +1 reviewed p.Q235H 1.000 86 0% 58 25.9% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Abhydrolase_1,superfamily_SSF53474 KIF7 374654 genome.wustl.edu 37 15 90191929 90191929 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198525.2 -1 validated p.D334N 1.000 25 0% 41 26.8% - - probably_damaging(0.991) tolerated(0.09) deleterious(0.740) HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SSF52540 ANPEP 290 genome.wustl.edu 37 15 90342718 90342718 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001150.2 -1 reviewed p.R631Q 0.946 144 0% 193 33.2% - - benign(0.016) tolerated(0.14) neutral(0.250) NULL C15orf38 348110 genome.wustl.edu 37 15 90447199 90447199 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182616.2 -1 validated p.G106 0.796 41 0% 53 43.4% - - - - - HMMPfam_UPF0552 TTLL13 440307 genome.wustl.edu 37 15 90801325 90801325 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001029964.2 +1 validated p.L331 1.000 155 0% 188 44.1% - - - - - HMMPfam_TTL,superfamily_SSF56059 ZNF774 342132 genome.wustl.edu 37 15 90904269 90904269 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001004309.2 +1 validated p.P402 0.955 85 0% 82 42.7% - - - - - superfamily_C2H2 and C2HC zinc fingers IQGAP1 8826 genome.wustl.edu 37 15 91030268 91030268 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003870.3 +1 reviewed p.F1369 1.000 79 0% 60 36.7% - - - - - NULL BLM 641 genome.wustl.edu 37 15 91346818 91346818 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000057.2 +1 reviewed p.A1142 0.057 131 0.8% 46 41.3% - - - - - HMMPfam_RQC,superfamily_SSF52540 FURIN 5045 genome.wustl.edu 37 15 91423440 91423440 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002569.2 +1 reviewed p.R498H 1.000 20 0% 34 17.6% - - probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_P_proprotein,superfamily_Gal_bind_like FES 2242 genome.wustl.edu 37 15 91433107 91433107 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002005.3 +1 reviewed p.E322K 0.002 43 0% 67 35.8% - - benign(0) tolerated(0.43) neutral(0.013) NULL FES 2242 genome.wustl.edu 37 15 91435992 91435992 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002005.3 +1 reviewed p.A588V 1.000 41 0% 93 32.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP FES 2242 genome.wustl.edu 37 15 91437169 91437169 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002005.3 +1 reviewed p.R736H 1.000 36 0% 52 38.5% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) MAN2A2 4122 genome.wustl.edu 37 15 91456603 91456603 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000431652 +1 known p.R895K 0.991 88 0% 141 32.6% - - - - - superfamily_Galactose mutarotase-like,HMMPfam_Glyco_hydro_38C UNC45A 55898 genome.wustl.edu 37 15 91492922 91492922 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018671.3 +1 validated p.G682D 1.000 59 0% 116 36.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat PRC1 9055 genome.wustl.edu 37 15 91519938 91519938 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003981.2 -1 reviewed p.Q391* 1.000 263 0% 290 34.1% - - - - - HMMPfam_MAP65_ASE1 VPS33B 26276 genome.wustl.edu 37 15 91548963 91548963 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018668.3 -1 reviewed p.L331I 1.000 23 0% 24 37.5% - - possibly_damaging(0.912) deleterious(0) deleterious(0.808) HMMPfam_Sec1,superfamily_Sec1/munc18-like (SM) proteins SLCO3A1 28232 genome.wustl.edu 37 15 92706356 92706356 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013272.3 +1 validated p.S708 0.961 64 0% 36 27.8% - - - - - NULL ST8SIA2 8128 genome.wustl.edu 37 15 92987984 92987984 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006011.3 +1 reviewed p.R223W 0.998 34 0% 38 23.7% - - probably_damaging(0.989) deleterious(0.01) deleterious(0.845) HMMPfam_Glyco_transf_29 CHD2 1106 genome.wustl.edu 37 15 93522378 93522378 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001271.3 +1 reviewed p.R914H 1.000 133 0% 40 52.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases MCTP2 55784 genome.wustl.edu 37 15 95022227 95022227 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018349.3 +1 validated p.S867 1.000 57 0% 16 62.5% - - - - - NULL NR2F2 7026 genome.wustl.edu 37 15 96880615 96880615 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021005.3 +1 reviewed p.L337V 1.000 75 0% 104 43.3% - - benign(0.104) tolerated(0.14) neutral(0.258) HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain PGPEP1L 145814 genome.wustl.edu 37 15 99512682 99512682 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001102612.2 -1 validated p.D115N 0.065 43 2.3% 55 30.9% - - benign(0.004) tolerated(0.46) neutral(0.012) superfamily_Pyrrolidone carboxyl peptidase (pyroglutamate aminopeptidase) TTC23 64927 genome.wustl.edu 37 15 99758900 99758900 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001040655.1 -1 validated p.E158D 0.740 284 0% 142 35.2% - - benign(0.059) tolerated(0.59) neutral(0.009) HMMSmart_SM00028,superfamily_TPR-like TTC23 64927 genome.wustl.edu 37 15 99758907 99758907 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001040655.1 -1 validated p.A156V 0.981 267 0% 142 37.3% - - possibly_damaging(0.761) deleterious(0) deleterious(0.726) HMMSmart_SM00028,superfamily_TPR-like HSP90B2P 7190 genome.wustl.edu 37 15 99799059 99799059 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000378906 +1 known p.R71C 0.998 75 0% 62 12.9% - - - - - superfamily_Ribosomal_S5_D2-typ_fold,HMMPfam_HSP90 LRRC28 123355 genome.wustl.edu 37 15 99828111 99828111 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144598.2 +1 provisional p.R114C 1.000 193 0% 188 33% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like MEF2A 4205 genome.wustl.edu 37 15 100230480 100230480 + Missense_Mutation SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005587.2 +1 reviewed p.N237K 1.000 56 0% 37 54.1% - - benign(0.062) deleterious(0) neutral(0.449) NULL LYSMD4 145748 genome.wustl.edu 37 15 100269337 100269337 + Silent SNP C C T rs78996435 TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152449.2 -1 validated p.A295 0.002 63 0% 62 24.2% - - - - - NULL CERS3 204219 genome.wustl.edu 37 15 101031087 101031087 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178842.3 -1 validated p.R75* 0.005 144 0% 69 34.8% - - - - - HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like CERS3 204219 genome.wustl.edu 37 15 101031117 101031117 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178842.3 -1 validated p.A65T 1.000 117 0% 58 29.3% - - probably_damaging(0.988) deleterious(0) deleterious(0.882) NULL ASB7 140460 genome.wustl.edu 37 15 101188602 101188602 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198243.2 +1 reviewed p.L298F 1.000 145 0% 79 34.2% - - possibly_damaging(0.917) deleterious(0) deleterious(0.812) HMMPfam_SOCS_box,HMMSmart_SM00253,superfamily_Ankyrin repeat LUC7L 55692 genome.wustl.edu 37 16 258104 258104 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_201412.1 -1 validated p.E113D 1.000 154 0% 141 36.2% - - benign(0.086) deleterious(0.04) neutral(0.355) HMMPfam_LUC7 ITFG3 83986 genome.wustl.edu 37 16 314618 314618 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000424016 +1 known p.P90L 0.000 26 0% 45 26.7% - - - - - NULL PDIA2 64714 genome.wustl.edu 37 16 334476 334476 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006849.2 +1 validated p.L97M 0.953 32 0% 99 44.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Thiordxn-like_fd,HMMPfam_Thioredoxin TMEM8A 58986 genome.wustl.edu 37 16 426799 426799 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021259.2 -1 validated p.D217N 0.001 15 0% 31 29% - - benign(0.004) tolerated(0.26) neutral(0.034) NULL DECR2 26063 genome.wustl.edu 37 16 460975 460975 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020664.3 +1 validated p.A187V 1.000 31 0% 83 33.7% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_adh_short,superfamily_NAD(P)-binding Rossmann-fold domains RAB11FIP3 9727 genome.wustl.edu 37 16 521368 521368 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014700.3 +1 validated p.F294 0.932 74 0% 145 35.9% - - - - - NULL C16orf11 146325 genome.wustl.edu 37 16 613378 613378 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_145270.1 +1 predicted p.P28 0.014 46 0% 94 18.1% - - - - - NULL C16orf11 146325 genome.wustl.edu 37 16 615096 615096 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_145270.1 +1 predicted p.G502D 0.003 6 0.000 11 0.455 - - benign(0.01) tolerated(0.15) neutral(0.241) NULL PIGQ 9091 genome.wustl.edu 37 16 633429 633429 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_148920.1 +1 reviewed p.G693D 0.000 15 0% 47 34% - - unknown(0) - - NULL RAB40C 57799 genome.wustl.edu 37 16 675504 675504 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021168.4 +1 validated p.D113N 1.000 34 0% 77 37.7% - - benign(0.016) deleterious(0.04) neutral(0.349) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases WDR90 197335 genome.wustl.edu 37 16 711941 711941 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_145294.4 +1 provisional p.S1305 0.000 14 0% 61 34.4% - - - - - HMMSmart_SM00320,superfamily_WD40 repeat-like RHOT2 89941 genome.wustl.edu 37 16 722748 722748 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138769.1 +1 provisional p.A484T 0.079 49 0% 115 33.9% - - benign(0) tolerated(0.66) neutral(0.003) HMMPfam_Miro,superfamily_P-loop containing nucleoside triphosphate hydrolases JMJD8 339123 genome.wustl.edu 37 16 733166 733166 + Splice_Site SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005920.2 -1 validated e7+1 1.000 78 0% 121 38.8% - - - - - - WDR24 84219 genome.wustl.edu 37 16 739529 739529 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032259.2 -1 provisional p.A38T 1.000 22 0% 52 48.1% - - benign(0.19) tolerated(0.37) neutral(0.037) superfamily_WD40 repeat-like MSLN 10232 genome.wustl.edu 37 16 817435 817435 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013404.4 +1 reviewed p.A529S 0.049 49 0% 127 35.4% - - probably_damaging(0.959) tolerated(0.7) neutral(0.405) HMMPfam_Mesothelin MSLNL 401827 genome.wustl.edu 37 16 820111 820111 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001025190.1 -1 provisional p.G958 0.001 20 0% 46 28.3% - - - - - HMMPfam_Mesothelin CHTF18 63922 genome.wustl.edu 37 16 845217 845217 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022092.2 +1 validated p.D679G 0.029 21 0% 56 16.1% - - benign(0.428) tolerated(0.34) neutral(0.162) NULL PRR25 388199 genome.wustl.edu 37 16 863313 863313 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001013638.1 +1 provisional p.D221N 0.017 10 0% 34 35.3% - - unknown(0) - - NULL LMF1 64788 genome.wustl.edu 37 16 920852 920852 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022773.2 -1 reviewed p.S370L 0.015 31 0% 68 39.7% - - possibly_damaging(0.455) tolerated(0.68) neutral(0.151) HMMPfam_DUF1222 LMF1 64788 genome.wustl.edu 37 16 1004555 1004555 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022773.2 -1 reviewed p.T102M 0.000 38 0% 73 37% - - possibly_damaging(0.693) tolerated(0.12) deleterious(0.508) NULL CACNA1H 8912 genome.wustl.edu 37 16 1251663 1251663 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021098.2 +1 reviewed p.V405M 1.000 36 0% 85 37.6% - - benign(0.024) deleterious(0.04) neutral(0.350) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels BAIAP3 8938 genome.wustl.edu 37 16 1397935 1397935 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003933.3 +1 reviewed p.P1057 0.628 13 0% 23 52.2% - - - - - HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) CLCN7 1186 genome.wustl.edu 37 16 1497502 1497502 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001287.4 -1 reviewed p.A714V 1.000 14 0% 31 35.5% - - benign(0.001) tolerated(0.6) neutral(0.004) HMMPfam_CBS TELO2 9894 genome.wustl.edu 37 16 1547054 1547054 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016111.3 +1 reviewed p.V211M 0.791 102 0% 168 41.1% - - possibly_damaging(0.89) tolerated(0.18) neutral(0.406) NULL TMEM204 79652 genome.wustl.edu 37 16 1592032 1592032 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024600.4 +1 provisional p.A131T 0.472 6 0.000 27 0.333 - - benign(0.001) deleterious(0.04) neutral(0.349) NULL CRAMP1L 57585 genome.wustl.edu 37 16 1670667 1670667 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000436138 +1 known p.W125* 0.008 25 0% 22 31.8% - - - - - NULL MAPK8IP3 23162 genome.wustl.edu 37 16 1817300 1817300 + Splice_Site SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015133.3 +1 reviewed e26+2 0.962 31 0% 78 39.7% - - - - - - MAPK8IP3 23162 genome.wustl.edu 37 16 1817615 1817615 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015133.3 +1 reviewed p.A1095 0.935 6 0.000 17 0.529 - - - - - superfamily_WD40 repeat-like FAHD1 81889 genome.wustl.edu 37 16 1877658 1877658 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001018104.2 +1 validated p.P143H 1.000 43 0% 73 39.7% - - possibly_damaging(0.89) deleterious(0.01) deleterious(0.756) HMMPfam_FAA_hydrolase,superfamily_Fumarylacetoacetase_C-rel TBL3 10607 genome.wustl.edu 37 16 2028439 2028439 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006453.2 +1 reviewed p.R754W 0.022 8 0.000 32 0.406 - - probably_damaging(0.982) deleterious(0.02) deleterious(0.809) HMMPfam_Utp13 NOXO1 124056 genome.wustl.edu 37 16 2030445 2030445 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_172168.1 -1 provisional p.R113 0.000 12 0% 34 38.2% - - - - - superfamily_PX domain GFER 2671 genome.wustl.edu 37 16 2035969 2035969 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005262.2 +1 reviewed p.F186 0.978 39 0% 59 33.9% - - - - - HMMPfam_Evr1_Alr,superfamily_Evr1_Alr ZNF598 90850 genome.wustl.edu 37 16 2048747 2048747 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000431526 -1 known p.A773T 1.000 33 0% 61 32.8% - - probably_damaging(0.953) tolerated(0.62) neutral(0.401) NULL TSC2 7249 genome.wustl.edu 37 16 2121535 2121535 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000548.3 +1 reviewed p.R622W 1.000 55 0% 77 29.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat,HMMPfam_Tuberin TSC2 7249 genome.wustl.edu 37 16 2138110 2138110 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000548.3 +1 reviewed p.F1710 0.878 48 0% 84 39.3% - - - - - HMMPfam_Rap_GAP,superfamily_Rap/Ran-GAP (Pfam 02145) PKD1 5310 genome.wustl.edu 37 16 2158838 2158838 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001009944.2 -1 reviewed p.A2110 0.000 7 0.000 11 0.455 - - - - - HMMPfam_PKD,HMMSmart_SM00089,superfamily_PKD domain RAB26 25837 genome.wustl.edu 37 16 2200015 2200015 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014353.4 +1 validated p.A90V 0.995 212 0.5% 444 12.4% - - benign(0.342) tolerated(0.12) neutral(0.368) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMSmart_SM00177,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases MLST8 64223 genome.wustl.edu 37 16 2258495 2258495 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022372.3 +1 validated p.R248M 1.000 28 0% 39 25.6% - - probably_damaging(0.968) deleterious(0.04) deleterious(0.759) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 E4F1 1877 genome.wustl.edu 37 16 2282838 2282838 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004424.3 +1 reviewed p.T271I 1.000 52 0% 116 33.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,superfamily_C2H2 and C2HC zinc fingers LOC100287438 100287438 genome.wustl.edu 37 16 2285069 2285069 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002343409.1 -1 model p.G166 0.000 9 0.000 28 0.357 - - - - - NULL E4F1 1877 genome.wustl.edu 37 16 2285132 2285132 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004424.3 +1 reviewed p.G662 0.195 17 0% 20 45% - - - - - NULL ABCA3 21 genome.wustl.edu 37 16 2326768 2326768 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001089.2 -1 reviewed p.G1674 0.000 39 0% 96 10.4% - - - - - NULL TBC1D24 57465 genome.wustl.edu 37 16 2550317 2550317 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020705.1 +1 provisional p.E445K 0.998 20 0% 58 46.6% - - probably_damaging(0.998) tolerated(0.11) deleterious(0.746) HMMPfam_TLD,HMMSmart_TLDc TCEB2 6923 genome.wustl.edu 37 16 2822013 2822013 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_207013.1 -1 reviewed p.A112V 1.000 106 0% 207 37.7% - - benign(0.206) deleterious(0.02) neutral(0.403) NULL PRSS21 10942 genome.wustl.edu 37 16 2871417 2871417 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006799.2 +1 reviewed p.Q252H 0.582 79 0% 100 30% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases FLYWCH2 114984 genome.wustl.edu 37 16 2946577 2946577 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001142499.1 +1 validated p.V43I 1.000 44 0% 68 30.9% - - possibly_damaging(0.933) deleterious(0) deleterious(0.824) NULL FLYWCH1 84256 genome.wustl.edu 37 16 2983208 2983208 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032296.2 +1 validated p.R291W 1.000 53 0% 73 42.5% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_FLYWCH THOC6 79228 genome.wustl.edu 37 16 3076519 3076519 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024339.3 +1 validated p.E138D 1.000 175 0.6% 310 36.8% - - benign(0.001) tolerated(0.95) - superfamily_WD40 repeat-like ZSCAN10 84891 genome.wustl.edu 37 16 3139768 3139768 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032805.1 -1 provisional p.G501V 1.000 9 0.000 10 0.400 - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF205 7755 genome.wustl.edu 37 16 3169795 3169795 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001042428.1 +1 validated p.T378 0.004 83 0% 117 33.3% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF75A 7627 genome.wustl.edu 37 16 3367520 3367520 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153028.2 +1 validated p.R181I 1.000 160 0% 100 41% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 OR2C1 4993 genome.wustl.edu 37 16 3406340 3406340 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012368.2 +1 validated p.A134T 0.008 43 0% 39 30.8% - - benign(0) tolerated(0.41) neutral(0.015) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like C16orf90 646174 genome.wustl.edu 37 16 3543870 3543870 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080524.1 -1 predicted p.R173I 1.000 50 0% 81 34.6% - - probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL NLRC3 197358 genome.wustl.edu 37 16 3594330 3594330 + Splice_Site SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178844.2 -1 validated e13-1 1.000 38 0% 58 34.5% - - - - - - NLRC3 197358 genome.wustl.edu 37 16 3613193 3613193 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178844.2 -1 validated p.S582I 0.013 4 0.000 13 0.308 - - benign(0.309) tolerated(0.08) neutral(0.396) NULL CREBBP 1387 genome.wustl.edu 37 16 3778624 3778624 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004380.2 -1 reviewed p.L2142M 0.994 66 0% 127 32.3% - - benign(0.001) tolerated(0.77) neutral(0.001) NULL CREBBP 1387 genome.wustl.edu 37 16 3781464 3781464 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004380.2 -1 reviewed p.V1634A 1.000 17 0% 32 25% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL ADCY9 115 genome.wustl.edu 37 16 4039045 4039045 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001116.2 -1 reviewed p.F754V 1.000 122 0% 159 31.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CORO7 79585 genome.wustl.edu 37 16 4410535 4410535 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024535.3 -1 validated p.A644 0.998 25 0% 62 12.9% - - - - - HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 CORO7 79585 genome.wustl.edu 37 16 4414870 4414870 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024535.3 -1 validated p.R317Q 1.000 18 0% 26 30.8% - - probably_damaging(0.994) deleterious(0.01) deleterious(0.858) HMMPfam_DUF1900 CORO7 79585 genome.wustl.edu 37 16 4458242 4458242 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024535.3 -1 validated p.T81 0.607 76 0% 155 40.6% - - - - - HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 DNAJA3 9093 genome.wustl.edu 37 16 4493148 4493148 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005147.4 +1 validated p.M305R 0.992 71 1.4% 62 24.2% - - benign(0.059) deleterious(0.03) neutral(0.368) NULL HMOX2 3163 genome.wustl.edu 37 16 4555562 4555562 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001127204.1 +1 reviewed p.E13K 0.933 173 0% 143 33.6% - - possibly_damaging(0.811) deleterious(0.04) deleterious(0.654) NULL LOC342346 342346 genome.wustl.edu 37 16 4626398 4626398 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001145011.1 +1 predicted p.G639 0.000 18 0% 43 37.2% - - - - - NULL LOC342346 342346 genome.wustl.edu 37 16 4644789 4644789 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001145011.1 +1 predicted p.A1038T 0.000 12 0% 39 33.3% - - possibly_damaging(0.662) tolerated(0.14) deleterious(0.484) NULL ANKS3 124401 genome.wustl.edu 37 16 4749065 4749065 + Missense_Mutation SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_133450.2 -1 provisional p.E466V 1.000 73 0% 109 33% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SAM_1,HMMSmart_SAM,superfamily_SAM_homology C16orf71 146562 genome.wustl.edu 37 16 4787837 4787837 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_139170.2 +1 validated p.R56* 1.000 29 0% 66 40.9% - - - - - NULL ZNF500 26048 genome.wustl.edu 37 16 4802621 4802621 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021646.1 -1 validated p.R400H 0.368 35 0% 63 44.4% - - possibly_damaging(0.806) tolerated(0.09) deleterious(0.600) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF500 26048 genome.wustl.edu 37 16 4815831 4815831 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021646.1 -1 validated p.R50H 0.998 16 0% 33 39.4% - - probably_damaging(0.997) tolerated(0.31) deleterious(0.493) HMMPfam_SCAN,HMMSmart_SCAN UBN1 29855 genome.wustl.edu 37 16 4910704 4910704 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001079514.1 +1 validated p.K237N 1.000 47 0% 51 39.2% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL UBN1 29855 genome.wustl.edu 37 16 4920912 4920912 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001079514.1 +1 validated p.E500* 1.000 220 0% 159 33.3% - - - - - NULL PPL 5493 genome.wustl.edu 37 16 4934943 4934943 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002705.4 -1 reviewed p.Y1238C 1.000 131 0% 205 39.5% - - probably_damaging(1) tolerated(0.1) deleterious(0.786) NULL PPL 5493 genome.wustl.edu 37 16 4940728 4940728 + Splice_Site SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002705.4 -1 reviewed e17+1 1.000 10 0% 14 57.1% - - - - - - PPL 5493 genome.wustl.edu 37 16 4949060 4949060 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002705.4 -1 reviewed p.G277D 1.000 72 0% 149 42.3% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00150,superfamily_Spectrin repeat C16orf72 29035 genome.wustl.edu 37 16 9196934 9196934 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014117.2 +1 validated p.R134H 1.000 102 0% 56 16.1% - - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL GRIN2A 2903 genome.wustl.edu 37 16 9857666 9857666 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000833.3 -1 reviewed p.L1245 0.992 158 0% 76 32.9% - - - - - HMMPfam_NMDAR2_C GRIN2A 2903 genome.wustl.edu 37 16 9984852 9984852 + Missense_Mutation SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000833.3 -1 reviewed p.E371D 1.000 102 0% 36 41.7% - - benign(0.418) tolerated(0.45) neutral(0.148) superfamily_Periplasmic binding protein-like I EMP2 2013 genome.wustl.edu 37 16 10637435 10637435 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001424.4 -1 validated p.S54I 0.000 161 0% 141 42.6% - - possibly_damaging(0.502) tolerated(0.24) neutral(0.205) HMMPfam_PMP22_Claudin CIITA 4261 genome.wustl.edu 37 16 11001528 11001528 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000246.3 +1 reviewed p.E727K 0.091 38 0% 64 35.9% - - probably_damaging(0.996) tolerated(0.11) deleterious(0.733) NULL CIITA 4261 genome.wustl.edu 37 16 11001915 11001915 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000246.3 +1 reviewed p.G856S 0.358 8 0.000 19 0.368 - - benign(0.054) tolerated(1) neutral(0.004) NULL CLEC16A 23274 genome.wustl.edu 37 16 11066901 11066901 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015226.2 +1 validated p.C237 1.000 112 0% 81 38.3% - - - - - NULL TNFRSF17 608 genome.wustl.edu 37 16 12059199 12059199 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001192.2 +1 reviewed p.G6 0.886 205 0% 178 31.5% - - - - - NULL SNX29 92017 genome.wustl.edu 37 16 12155433 12155433 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080530.2 +1 provisional p.P6 0.259 70 0% 59 47.5% - - - - - NULL SHISA9 729993 genome.wustl.edu 37 16 13307116 13307116 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001145204.2 +1 validated p.S326Y 1.000 164 0% 75 34.7% - - probably_damaging(0.978) tolerated(0.05) deleterious(0.766) NULL ERCC4 2072 genome.wustl.edu 37 16 14042099 14042099 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005236.2 +1 reviewed p.D882 0.000 121 0% 57 17.5% - - - - - NULL NOMO1 23420 genome.wustl.edu 37 16 14966165 14966165 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014287.3 +1 reviewed p.M678T 1.000 561 0.2% 314 12.1% - - benign(0) tolerated(0.55) neutral(0.007) NULL NOMO1 23420 genome.wustl.edu 37 16 14969010 14969010 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014287.3 +1 reviewed p.N724 0.516 417 0% 202 30.7% - - - - - NULL NTAN1 123803 genome.wustl.edu 37 16 15141313 15141313 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173474.2 -1 provisional p.H115 0.015 163 0% 147 35.4% - - - - - NULL LOC100288226 100288226 genome.wustl.edu 37 16 15221658 15221658 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002343422.1 +1 model p.G100S 1.000 29 0% 64 18.8% - - unknown(0) - - NULL C16orf45 89927 genome.wustl.edu 37 16 15675165 15675165 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033201.2 +1 validated p.D132 0.446 96 0% 80 18.8% - - - - - NULL ABCC6 368 genome.wustl.edu 37 16 16248834 16248834 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001171.5 -1 reviewed p.L1313M 1.000 13 0% 17 29.4% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases XYLT1 64131 genome.wustl.edu 37 16 17228535 17228535 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022166.3 -1 reviewed p.I608V 0.762 67 0% 51 33.3% - - benign(0.001) tolerated(0.72) neutral(0.002) NULL SMG1 23049 genome.wustl.edu 37 16 18908121 18908121 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015092.4 -1 reviewed p.E84K 1.000 33 0% 30 26.7% - - benign(0.013) deleterious(0.04) neutral(0.349) NULL SYT17 51760 genome.wustl.edu 37 16 19184854 19184854 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016524.2 +1 validated p.E46* 1.000 41 0% 45 35.6% - - - - - NULL TMC5 79838 genome.wustl.edu 37 16 19501839 19501839 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001105248.1 +1 validated p.R899Q 0.617 356 0% 170 34.7% - - benign(0.005) tolerated(0.44) neutral(0.013) NULL CCP110 9738 genome.wustl.edu 37 16 19547973 19547973 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014711.4 +1 validated p.R328* 0.000 57 0% 24 25% - - - - - NULL C16orf88 400506 genome.wustl.edu 37 16 19721873 19721873 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001012991.2 -1 provisional p.R341 0.318 121 0% 167 29.9% - - - - - NULL GPR139 124274 genome.wustl.edu 37 16 20043417 20043417 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001002911.2 -1 validated p.T234 1.000 114 0% 56 30.4% - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like GP2 2813 genome.wustl.edu 37 16 20326001 20326001 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001007240.1 -1 validated p.M511I 0.000 136 0% 38 36.8% - - benign(0.004) tolerated(0.15) neutral(0.241) NULL PDILT 204474 genome.wustl.edu 37 16 20410441 20410441 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_174924.1 -1 provisional p.R61H 1.000 84 0% 63 36.5% - - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) superfamily_Thiordxn-like_fd ACSM1 116285 genome.wustl.edu 37 16 20696520 20696520 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_052956.2 -1 validated p.R133Q 0.960 124 0% 37 43.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like ERI2 112479 genome.wustl.edu 37 16 20814960 20814960 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001142725.1 -1 validated p.A19V 0.003 147 0% 123 30.9% - - benign(0.059) deleterious(0.03) neutral(0.368) NULL LOC81691 81691 genome.wustl.edu 37 16 20856526 20856526 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030941.2 +1 validated p.R696H 0.000 64 0% 24 20.8% - - benign(0.016) deleterious(0) neutral(0.445) NULL DNAH3 55567 genome.wustl.edu 37 16 21008666 21008666 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017539.1 -1 provisional p.I2180 0.011 106 0% 83 34.9% - - - - - HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases ZP2 7783 genome.wustl.edu 37 16 21211172 21211172 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003460.1 -1 reviewed p.Q574 0.495 148 0% 77 36.4% - - - - - HMMPfam_Zona_pellucida,HMMSmart_SM00241 ANKS4B 257629 genome.wustl.edu 37 16 21261743 21261743 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_145865.2 +1 validated p.D286Y 0.999 246 0% 137 32.8% - - possibly_damaging(0.791) tolerated(0.06) deleterious(0.619) NULL METTL9 51108 genome.wustl.edu 37 16 21666658 21666658 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016025.3 +1 validated p.E288K 1.000 162 0.6% 119 32.8% - - possibly_damaging(0.49) tolerated(0.14) neutral(0.412) HMMPfam_DREV,superfamily_S-adenosyl-L-methionine-dependent methyltransferases EEF2K 29904 genome.wustl.edu 37 16 22277722 22277722 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013302.3 +1 reviewed p.E484D 1.000 64 0% 95 41.1% - - benign(0.002) tolerated(0.14) neutral(0.249) NULL POLR3E 55718 genome.wustl.edu 37 16 22335835 22335835 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018119.2 +1 validated p.E380D 1.000 94 0% 187 35.3% - - probably_damaging(1) tolerated(0.14) deleterious(0.750) HMMPfam_Sin_N POLR3E 55718 genome.wustl.edu 37 16 22337083 22337083 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018119.2 +1 validated p.G450 1.000 10 0% 16 43.8% - - - - - NULL CDR2 1039 genome.wustl.edu 37 16 22358879 22358879 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001802.1 -1 validated p.R258* 1.000 96 0% 40 35% - - - - - NULL SCNN1G 6340 genome.wustl.edu 37 16 23221151 23221151 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001039.3 +1 reviewed p.N386 0.000 49 0% 35 22.9% - - - - - HMMPfam_ASC COG7 91949 genome.wustl.edu 37 16 23421674 23421674 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153603.3 -1 reviewed p.A473T 1.000 85 0% 85 38.8% - - benign(0.002) tolerated(0.39) neutral(0.016) HMMPfam_COG7 ENSG00000245868 0 genome.wustl.edu 37 16 23489826 23489826 + RNA SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000498959 +1 novel NULL 0.908 48 0% 44 34.1% - - - - - - GGA2 23062 genome.wustl.edu 37 16 23497377 23497377 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015044.4 -1 reviewed p.R253C 0.531 75 0% 55 23.6% - - possibly_damaging(0.512) tolerated(0.08) deleterious(0.472) HMMPfam_GAT,superfamily_SSF89009 EARS2 124454 genome.wustl.edu 37 16 23535308 23535312 + RNA DEL TCTGT TCTGT - rs3071379 byCluster;byFrequency;by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 TCTGT TCTGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NR_003501.1 -1 validated NULL 0.000:0.000:0.000:0.000:0.000 - - - - - - - - - - EARS2 124454 genome.wustl.edu 37 16 23546501 23546501 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001083614.1 -1 provisional p.S222 0.063 37 0% 32 21.9% - - - - - HMMPfam_tRNA-synt_1c,superfamily_SSF52374 EARS2 124454 genome.wustl.edu 37 16 23546671 23546671 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001083614.1 -1 provisional p.R166W 1.000 21 0% 17 29.4% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_tRNA-synt_1c,superfamily_SSF52374 PALB2 79728 genome.wustl.edu 37 16 23641147 23641147 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024675.3 -1 reviewed p.F776 0.000 192 0% 163 31.9% - - - - - NULL ERN2 10595 genome.wustl.edu 37 16 23702490 23702490 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033266.3 -1 validated p.G891E 1.000 92 0% 136 40.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ribonuc_2-5A CHP2 63928 genome.wustl.edu 37 16 23767386 23767386 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022097.2 +1 provisional p.S75N 0.998 76 0% 130 39.2% - - benign(0) tolerated(0.91) - superfamily_EF-hand PRKCB 5579 genome.wustl.edu 37 16 24231289 24231289 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_212535.2 +1 reviewed p.K624R 1.000 172 0% 43 39.5% - - benign(0) tolerated(0.71) neutral(0.002) HMMSmart_SM00133,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_C CACNG3 10368 genome.wustl.edu 37 16 24366221 24366221 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006539.2 +1 reviewed p.C121 0.440 52 0% 45 40% - - - - - HMMPfam_PMP22_Claudin RBBP6 5930 genome.wustl.edu 37 16 24574952 24574952 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006910.4 +1 reviewed p.A496V 0.997 339 0% 155 34.2% - - unknown(0) - - NULL RBBP6 5930 genome.wustl.edu 37 16 24582742 24582742 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006910.4 +1 reviewed p.T1452M 0.889 98 0% 115 32.2% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL RBBP6 5930 genome.wustl.edu 37 16 24582876 24582876 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006910.4 +1 reviewed p.R1497* 0.999 106 0% 149 32.9% - - - - - NULL FLJ45256 400511 genome.wustl.edu 37 16 24674473 24674473 + RNA SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XR_041134.1 -1 model NULL 0.000 80 0% 68 30.9% - - - - - - TNRC6A 27327 genome.wustl.edu 37 16 24808845 24808845 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014494.2 +1 reviewed p.A1199V 0.232 233 0.4% 114 28.9% - - benign(0) tolerated(0.13) neutral(0.253) NULL TNRC6A 27327 genome.wustl.edu 37 16 24826566 24826566 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014494.2 +1 reviewed p.G1591* 1.000 146 0% 64 34.4% - - - - - NULL TNRC6A 27327 genome.wustl.edu 37 16 24828142 24828142 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014494.2 +1 reviewed p.R1613C 1.000 98 0% 60 41.7% - - probably_damaging(1) tolerated(0.18) deleterious(0.556) NULL SLC5A11 115584 genome.wustl.edu 37 16 24918457 24918457 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_052944.2 +1 provisional p.R409Q 1.000 74 0% 98 27.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SSF ARHGAP17 55114 genome.wustl.edu 37 16 24950883 24950883 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001006634.1 -1 validated p.R509Q 1.000 31 0% 40 40% - - probably_damaging(0.999) tolerated(0.05) deleterious(0.836) NULL ARHGAP17 55114 genome.wustl.edu 37 16 24953387 24953387 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001006634.1 -1 validated p.D471N 1.000 98 0% 91 35.2% - - possibly_damaging(0.892) tolerated(0.08) deleterious(0.651) NULL AQP8 343 genome.wustl.edu 37 16 25228650 25228650 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001169.2 +1 reviewed p.F48 1.000 135 0% 150 32.7% - - - - - HMMPfam_MIP,superfamily_MIP ZKSCAN2 342357 genome.wustl.edu 37 16 25251526 25251526 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001012981.4 -1 validated p.C839G 0.948 76 0% 34 38.2% - - probably_damaging(0.995) tolerated(0.11) deleterious(0.729) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers NSMCE1 197370 genome.wustl.edu 37 16 27238085 27238085 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_145080.3 -1 validated p.D186N 0.883 33 0% 59 13.6% - - possibly_damaging(0.442) deleterious(0.01) deleterious(0.550) superfamily_SSF57850 IL4R 3566 genome.wustl.edu 37 16 27374808 27374808 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000418.2 +1 reviewed p.V712A 0.957 13 0% 29 51.7% - - probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL IL21R 50615 genome.wustl.edu 37 16 27456551 27456551 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021798.2 +1 reviewed p.V247F 0.000 186 0% 170 34.7% - - benign(0.005) tolerated(0.1) neutral(0.286) NULL GTF3C1 2975 genome.wustl.edu 37 16 27475816 27475816 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001520.3 -1 validated p.P1899 0.000 29 0% 78 12.8% - - - - - NULL GTF3C1 2975 genome.wustl.edu 37 16 27480817 27480817 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001520.3 -1 validated p.D1623 0.892 135 0% 213 34.3% - - - - - NULL GTF3C1 2975 genome.wustl.edu 37 16 27481615 27481615 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001520.3 -1 validated p.S1543F 0.968 72 0% 110 33.6% - - possibly_damaging(0.915) deleterious(0.05) deleterious(0.712) NULL GTF3C1 2975 genome.wustl.edu 37 16 27544641 27544641 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001520.3 -1 validated p.E274* 0.999 105 0% 95 32.6% - - - - - HMMPfam_B-block_TFIIIC KIAA0556 23247 genome.wustl.edu 37 16 27781295 27781295 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015202.2 +1 validated p.F1363 0.967 62 0% 94 30.9% - - - - - superfamily_Galactose-binding domain-like APOBR 55911 genome.wustl.edu 37 16 28507327 28507327 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018690.2 +1 reviewed p.A322V 0.003 51 0% 54 13% - - benign(0.355) tolerated(1) neutral(0.113) NULL APOBR 55911 genome.wustl.edu 37 16 28507653 28507653 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018690.2 +1 reviewed p.L422M 0.000 93 0% 141 11.3% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL APOBR 55911 genome.wustl.edu 37 16 28509561 28509561 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018690.2 +1 reviewed p.L1030 0.002 18 0% 18 44.4% - - - - - NULL IL27 246778 genome.wustl.edu 37 16 28515322 28515322 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_145659.3 -1 reviewed p.W27* 1.000 27 0% 45 35.6% - - - - - NULL CCDC101 112869 genome.wustl.edu 37 16 28601677 28601677 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138414.2 +1 validated p.D160E 1.000 98 0% 104 13.5% - - benign(0.003) deleterious(0.02) neutral(0.383) HMMPfam_DUF1325 ATXN2L 11273 genome.wustl.edu 37 16 28847691 28847691 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_148414.1 +1 reviewed p.A1062T 1.000 62 0% 128 41.4% - - benign(0.002) deleterious(0) neutral(0.445) NULL SH2B1 25970 genome.wustl.edu 37 16 28877720 28877720 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015503.2 +1 reviewed p.S102L 0.020 44 0% 79 31.6% - - benign(0.046) tolerated(0.44) neutral(0.015) NULL SH2B1 25970 genome.wustl.edu 37 16 28883544 28883544 + Missense_Mutation SNP G G C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015503.2 +1 reviewed p.G516A 0.977 47 0% 69 33.3% - - benign(0.249) tolerated(0.4) neutral(0.041) superfamily_SH2 domain LOC100288650 100288650 genome.wustl.edu 37 16 28931072 28931072 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002343464.1 +1 model p.I12T 0.000 27 0% 66 42.4% - - - - - NULL SPNS1 83985 genome.wustl.edu 37 16 28990785 28990785 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001142448.1 +1 validated p.A219V 1.000 100 0% 173 13.9% - - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_MFS_1,superfamily_MFS general substrate transporter C16orf54 283897 genome.wustl.edu 37 16 29756109 29756109 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_175900.3 -1 validated p.R55H 0.998 23 0% 46 37% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ZG16 653808 genome.wustl.edu 37 16 29791627 29791627 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152338.2 +1 validated p.V131I 0.012 125 0.8% 130 36.9% - - benign(0.001) tolerated(0.05) neutral(0.345) HMMPfam_Jacalin,superfamily_Mannose-bd_lectin KIF22 3835 genome.wustl.edu 37 16 29808347 29808347 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007317.1 +1 reviewed p.G68 0.991 51 0% 78 30.8% - - - - - HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SSF52540 MVP 9961 genome.wustl.edu 37 16 29856194 29856194 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005115.3 +1 reviewed p.A672V 0.976 15 0% 39 38.5% - - possibly_damaging(0.575) tolerated(0.05) deleterious(0.542) NULL SEZ6L2 26470 genome.wustl.edu 37 16 29888751 29888751 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_201575.2 -1 validated p.D584N 1.000 8 0.000 12 0.417 - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain SEZ6L2 26470 genome.wustl.edu 37 16 29891294 29891294 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_201575.2 -1 validated p.T488 0.840 36 0% 64 37.5% - - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain ALDOA 226 genome.wustl.edu 37 16 30081513 30081513 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000034.2 +1 reviewed p.V359I 0.999 34 0% 62 43.5% - - benign(0) tolerated(0.12) neutral(0.261) HMMPfam_Glycolytic,superfamily_SSF51569 PPP4C 5531 genome.wustl.edu 37 16 30087787 30087787 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002720.1 +1 provisional p.A30D 1.000 7 0.000 20 0.450 - - benign(0.001) tolerated(0.73) neutral(0.002) HMMSmart_SM00156,superfamily_Metallo-dependent phosphatases TBX6 6911 genome.wustl.edu 37 16 30100073 30100073 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004608.3 -1 reviewed p.A237S 0.993 66 0% 160 36.9% - - benign(0.041) tolerated(0.26) neutral(0.037) HMMPfam_T-box,HMMSmart_TBOX,superfamily_P53_like_DNA_bnd CORO1A 11151 genome.wustl.edu 37 16 30198006 30198006 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007074.2 +1 validated p.V96I 0.980 34 0% 41 26.8% - - benign(0.029) tolerated(0.23) neutral(0.043) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 CORO1A 11151 genome.wustl.edu 37 16 30198370 30198370 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007074.2 +1 validated p.N154 0.980 127 0% 205 41% - - - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40 CORO1A 11151 genome.wustl.edu 37 16 30199132 30199132 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007074.2 +1 validated p.I281 0.074 21 0% 39 38.5% - - - - - superfamily_WD40 repeat-like,HMMPfam_DUF1900 TBC1D10B 26000 genome.wustl.edu 37 16 30376894 30376894 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015527.3 -1 validated p.D326 0.997 52 0% 71 42.3% - - - - - superfamily_Ypt/Rab-GAP domain of gyp1p ITGAL 3683 genome.wustl.edu 37 16 30516598 30516598 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002209.2 +1 reviewed p.S757P 0.001 146 0.7% 143 21% - - probably_damaging(0.985) tolerated(0.08) deleterious(0.732) HMMPfam_Integrin_alpha2,superfamily_Integrin domains ZNF689 115509 genome.wustl.edu 37 16 30620848 30620848 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138447.1 -1 provisional p.R106K 0.943 69 0% 131 38.9% - - benign(0.002) tolerated(1) - NULL PRR14 78994 genome.wustl.edu 37 16 30664243 30664243 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024031.2 +1 provisional p.D108G 0.009 49 0% 104 35.6% - - benign(0.43) deleterious(0) deleterious(0.585) NULL SRCAP 10847 genome.wustl.edu 37 16 30721342 30721342 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006662.2 +1 validated p.L343M 1.000 74 0% 84 29.8% - - unknown(0) - - NULL SRCAP 10847 genome.wustl.edu 37 16 30735779 30735779 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006662.2 +1 validated p.T1678 0.508 113 0% 139 46% - - - - - NULL FBXL19 54620 genome.wustl.edu 37 16 30958404 30958404 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000427128 +1 known p.A538T 1.000 14 0% 34 32.4% - - - - - superfamily_RNI-like STX1B 112755 genome.wustl.edu 37 16 31004545 31004545 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_052874.3 -1 validated p.R231H 1.000 75 0% 173 10.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SNARE,HMMSmart_SM00397,PatternScan_SYNTAXIN,superfamily_t-snare proteins STX4 6810 genome.wustl.edu 37 16 31046355 31046355 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004604.3 +1 provisional p.K124 1.000 44 0% 119 42% - - - - - HMMPfam_Syntaxin,HMMSmart_SynN,superfamily_t-snare PRSS53 339105 genome.wustl.edu 37 16 31097471 31097471 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001039503.2 -1 validated p.P233S 0.999 40 0% 88 36.4% - - benign(0.43) tolerated(0.09) neutral(0.436) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys PRSS53 339105 genome.wustl.edu 37 16 31098970 31098970 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001039503.2 -1 validated p.V44I 0.000 33 0% 84 36.9% - - benign(0.006) tolerated(0.21) neutral(0.044) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys ITGAM 3684 genome.wustl.edu 37 16 31277440 31277440 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000632.3 +1 reviewed p.Q133 0.000 38 0% 38 47.4% - - - - - superfamily_SSF69318 ITGAM 3684 genome.wustl.edu 37 16 31332864 31332864 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000632.3 +1 reviewed p.D640Y 0.116 276 0.4% 151 33.8% - - possibly_damaging(0.893) deleterious(0.03) deleterious(0.716) HMMPfam_Integrin_alpha2,superfamily_SSF69179 SLC5A2 6524 genome.wustl.edu 37 16 31498685 31498685 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003041.3 +1 reviewed p.V207I 1.000 19 0% 46 28.3% - - benign(0.022) tolerated(1) neutral(0.001) HMMPfam_SSF C16orf58 64755 genome.wustl.edu 37 16 31504488 31504488 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000436843 -1 known p.R38* 0.000 42 0% 85 36.5% - - - - - NULL ZNF267 10308 genome.wustl.edu 37 16 31926769 31926769 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003414.4 +1 validated p.R400I 0.958 97 0% 46 45.7% - - benign(0.143) tolerated(0.48) neutral(0.023) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF267 10308 genome.wustl.edu 37 16 31926910 31926910 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003414.4 +1 validated p.R447H 0.007 91 0% 51 31.4% - - benign(0.034) tolerated(0.54) neutral(0.009) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF267 10308 genome.wustl.edu 37 16 31927125 31927125 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003414.4 +1 validated p.L519I 0.196 66 0% 36 30.6% - - possibly_damaging(0.624) deleterious(0.01) deleterious(0.623) superfamily_C2H2 and C2HC zinc fingers LOC729264 729264 genome.wustl.edu 37 16 32264772 32264772 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_001133674.2 +1 model p.T33I 0.296 122 0% 177 13.6% - - - - - NULL MYLK3 91807 genome.wustl.edu 37 16 46781736 46781736 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182493.2 -1 validated p.A124T 1.000 15 0% 46 30.4% - - possibly_damaging(0.647) deleterious(0) deleterious(0.671) NULL GPT2 84706 genome.wustl.edu 37 16 46934661 46934661 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_133443.2 +1 validated p.R134H 1.000 34 0% 66 31.8% - - possibly_damaging(0.843) deleterious(0.03) deleterious(0.688) HMMPfam_Aminotran_1_2,superfamily_PLP-dependent transferases PHKB 5257 genome.wustl.edu 37 16 47695650 47695650 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000293.2 +1 reviewed p.S739 1.000 126 0% 33 33.3% - - - - - HMMPfam_PHK_AB ABCC12 94160 genome.wustl.edu 37 16 48138226 48138226 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033226.2 -1 reviewed p.M909I 1.000 121 0% 110 31.8% - - benign(0.123) tolerated(0.13) neutral(0.263) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCC12 94160 genome.wustl.edu 37 16 48149437 48149437 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000416054 -1 known p.W602* 1.000 75 0% 108 43.5% - - - - - NULL ABCC12 94160 genome.wustl.edu 37 16 48149469 48149469 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033226.2 -1 reviewed p.A616T 0.996 62 0% 102 37.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ABC_tran,HMMSmart_SM00382,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCC11 85320 genome.wustl.edu 37 16 48239340 48239340 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032583.3 -1 reviewed p.A597T 0.000 60 0% 45 28.9% - - benign(0.025) tolerated(0.4) neutral(0.017) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,superfamily_P-loop containing nucleoside triphosphate hydrolases SIAH1 6477 genome.wustl.edu 37 16 48395770 48395770 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001006610.1 -1 reviewed p.M221I 1.000 223 0% 209 13.9% - - benign(0.037) deleterious(0) neutral(0.447) superfamily_Traf_like,HMMPfam_Sina N4BP1 9683 genome.wustl.edu 37 16 48587552 48587552 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153029.3 -1 validated p.R640C 1.000 123 0% 56 25% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL N4BP1 9683 genome.wustl.edu 37 16 48594861 48594861 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153029.3 -1 validated p.M565V 0.001 157 0% 60 36.7% - - benign(0) tolerated(0.2) neutral(0.049) NULL C16orf78 123970 genome.wustl.edu 37 16 49412503 49412503 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144602.2 +1 predicted p.S131 0.653 51 0% 22 40.9% - - - - - NULL PAPD5 64282 genome.wustl.edu 37 16 50256224 50256224 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001040284.2 +1 validated p.P125L 1.000 207 0% 91 24.2% - - possibly_damaging(0.858) deleterious(0) deleterious(0.776) HMMPfam_NTP_transf_2,superfamily_Nucleotidyltransferase,superfamily_PAP/OAS1 substrate-binding domain ADCY7 113 genome.wustl.edu 37 16 50327356 50327356 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001114.3 +1 reviewed p.R260H 0.495 34 0% 78 43.6% - - benign(0.03) tolerated(0.21) neutral(0.045) HMMSmart_CYCc ADCY7 113 genome.wustl.edu 37 16 50345958 50345958 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001114.3 +1 reviewed p.Y820* 1.000 70 0% 80 36.2% - - - - - NULL NKD1 85407 genome.wustl.edu 37 16 50664155 50664155 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033119.3 +1 provisional p.S174Y 1.000 30 0% 45 42.2% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL NOD2 64127 genome.wustl.edu 37 16 50756617 50756617 + Splice_Site SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022162.1 +1 reviewed e8+1 1.000 114 0% 96 32.3% - - - - - - CYLD 1540 genome.wustl.edu 37 16 50783682 50783682 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015247.2 +1 reviewed p.L25I 1.000 120 0% 77 37.7% - - benign(0.076) tolerated(0.1) neutral(0.292) NULL SALL1 6299 genome.wustl.edu 37 16 51174771 51174771 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002968.2 -1 reviewed p.C454 0.954 58 0% 121 16.5% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355 SALL1 6299 genome.wustl.edu 37 16 51174820 51174820 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002968.2 -1 reviewed p.A438V 0.950 81 0% 149 36.9% - - benign(0.065) tolerated(0.37) neutral(0.024) NULL SALL1 6299 genome.wustl.edu 37 16 51175223 51175223 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002968.2 -1 reviewed p.A304T 1.000 85 1.2% 164 31.1% - - probably_damaging(0.996) tolerated(0.15) deleterious(0.703) NULL CHD9 80205 genome.wustl.edu 37 16 53191165 53191165 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025134.4 +1 validated p.E388D 0.997 55 0% 22 50% - - benign(0.008) tolerated(0.46) neutral(0.012) NULL CHD9 80205 genome.wustl.edu 37 16 53307659 53307659 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025134.4 +1 validated p.D1613E 1.000 52 0% 17 41.2% - - probably_damaging(0.984) tolerated(0.26) neutral(0.465) superfamily_SSF52540 CHD9 80205 genome.wustl.edu 37 16 53358438 53358438 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025134.4 +1 validated p.S2759 0.964 100 0% 24 41.7% - - - - - NULL AKTIP 64400 genome.wustl.edu 37 16 53529038 53529038 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001012398.1 -1 reviewed p.V121I 1.000 140 0% 118 13.6% - - benign(0.416) tolerated(0.25) neutral(0.172) HMMPfam_UQ_con,HMMSmart_SM00212,superfamily_UBC-like IRX5 10265 genome.wustl.edu 37 16 54966721 54966721 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005853.5 +1 validated p.D187 1.000 81 0% 148 33.8% - - - - - NULL IRX6 79190 genome.wustl.edu 37 16 55360456 55360456 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024335.2 +1 validated p.P85L 1.000 7 0.000 15 0.533 - - benign(0.215) tolerated(0.06) neutral(0.344) NULL MMP2 4313 genome.wustl.edu 37 16 55518003 55518003 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004530.4 +1 reviewed p.S152 0.997 136 0% 168 38.7% - - - - - HMMPfam_Peptidase_M10,HMMSmart_ZnMc,superfamily_SSF55486 AMFR 267 genome.wustl.edu 37 16 56397922 56397922 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001144.4 -1 reviewed p.E565D 1.000 23 0% 36 36.1% - - probably_damaging(0.983) tolerated(0.08) deleterious(0.729) NULL AMFR 267 genome.wustl.edu 37 16 56448257 56448257 + Splice_Site SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001144.4 -1 reviewed e2-1 1.000 110 0% 86 12.8% - - - - - - BBS2 583 genome.wustl.edu 37 16 56534925 56534925 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031885.3 -1 reviewed p.R413Q 1.000 223 0% 79 41.8% - - probably_damaging(0.997) deleterious(0.05) deleterious(0.811) NULL MT3 4504 genome.wustl.edu 37 16 56624852 56624852 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005954.2 +1 validated p.C66* 1.000 61 0% 89 42.7% - - - - - HMMPfam_Metallothio,superfamily_Metallothionein_sfam SLC12A3 6559 genome.wustl.edu 37 16 56926068 56926068 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000339.2 +1 reviewed p.G814 0.007 52 0% 73 50.7% - - - - - NULL NLRC5 84166 genome.wustl.edu 37 16 57100503 57100503 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032206.3 +1 validated p.E1433D 0.059 43 0% 36 33.3% - - benign(0.011) tolerated(0.84) neutral(0.001) NULL CPNE2 221184 genome.wustl.edu 37 16 57180176 57180176 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152727.4 +1 reviewed p.T494 0.000 37 0% 33 33.3% - - - - - HMMSmart_VWA,superfamily_SSF53300 RSPRY1 89970 genome.wustl.edu 37 16 57272859 57272859 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_133368.1 +1 provisional p.R568K 1.000 88 0% 63 25.4% - - possibly_damaging(0.749) tolerated(0.05) deleterious(0.621) superfamily_RING/U-box CX3CL1 6376 genome.wustl.edu 37 16 57416521 57416521 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002996.3 +1 provisional p.E257D 0.001 17 0% 31 48.4% - - benign(0.244) deleterious(0) deleterious(0.469) NULL GPR97 222487 genome.wustl.edu 37 16 57710222 57710222 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_170776.4 +1 validated p.D106G 0.991 78 0% 84 39.3% - - possibly_damaging(0.527) tolerated(0.3) neutral(0.206) NULL CCDC135 84229 genome.wustl.edu 37 16 57760774 57760774 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032269.5 +1 validated p.L669I 0.887 76 0% 116 41.4% - - probably_damaging(0.99) tolerated(0.16) deleterious(0.501) NULL KIFC3 3801 genome.wustl.edu 37 16 57794638 57794638 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005550.3 -1 validated p.Q744H 1.000 18 0% 26 53.8% - - probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases KIFC3 3801 genome.wustl.edu 37 16 57805117 57805117 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005550.3 -1 validated p.P253H 0.942 8 0.000 20 0.350 - - benign(0.001) tolerated(0.15) neutral(0.241) NULL CNGB1 1258 genome.wustl.edu 37 16 57965683 57965683 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001297.4 -1 reviewed p.P491L 0.000 125 0% 107 34.6% - - benign(0.044) tolerated(0.27) neutral(0.036) NULL MMP15 4324 genome.wustl.edu 37 16 58077424 58077424 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002428.2 +1 reviewed p.R488H 1.000 57 0% 101 31.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Hemopexin,HMMPfam_Hemopexin,HMMSmart_HX CSNK2A2 1459 genome.wustl.edu 37 16 58199587 58199587 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001896.2 -1 validated p.F285V 1.000 165 0% 77 40.3% - - possibly_damaging(0.595) deleterious(0) deleterious(0.650) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase CSNK2A2 1459 genome.wustl.edu 37 16 58208382 58208382 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001896.2 -1 validated p.I134 1.000 87 0% 43 32.6% - - - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase PRSS54 221191 genome.wustl.edu 37 16 58318587 58318587 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080492.1 -1 provisional p.I187 0.948 155 0% 109 13.8% - - - - - HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys SETD6 79918 genome.wustl.edu 37 16 58550751 58550751 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024860.2 +1 validated p.E213 0.998 142 0% 234 32.9% - - - - - HMMPfam_SET,superfamily_SET domain SETD6 79918 genome.wustl.edu 37 16 58552708 58552708 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024860.2 +1 validated p.S375 0.012 170 0% 239 32.2% - - - - - superfamily_RuBisCo LSMT C-terminal substrate-binding domain CNOT1 23019 genome.wustl.edu 37 16 58580308 58580308 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016284.3 -1 validated p.R1308H 1.000 187 0.5% 57 36.8% - - possibly_damaging(0.857) deleterious(0.01) deleterious(0.737) NULL CNOT1 23019 genome.wustl.edu 37 16 58633174 58633174 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016284.3 -1 validated p.K23T 1.000 248 0% 134 36.6% - - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL SLC38A7 55238 genome.wustl.edu 37 16 58713931 58713931 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018231.1 -1 provisional p.A34T 0.772 18 0% 41 39% - - benign(0.002) tolerated(0.46) neutral(0.012) NULL CDH8 1006 genome.wustl.edu 37 16 61851493 61851493 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001796.2 -1 reviewed p.P389 0.001 130 0% 21 33.3% - - - - - HMMSmart_CA,superfamily_Cadherin CDH8 1006 genome.wustl.edu 37 16 61854905 61854905 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001796.2 -1 reviewed p.I316 0.985 138 0% 33 12.1% - - - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin CDH11 1009 genome.wustl.edu 37 16 64984897 64984897 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001797.2 -1 reviewed p.R556Q 0.979 39 0% 28 46.4% - - benign(0.094) tolerated(0.13) neutral(0.260) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like CDH11 1009 genome.wustl.edu 37 16 65005962 65005962 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001797.2 -1 reviewed p.R466W 0.982 108 0% 28 28.6% - - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like CDH11 1009 genome.wustl.edu 37 16 65006807 65006807 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001797.2 -1 reviewed p.H464Y 1.000 165 0% 38 34.2% - - possibly_damaging(0.715) tolerated(0.15) deleterious(0.500) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like CDH5 1003 genome.wustl.edu 37 16 66420930 66420930 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001795.3 +1 reviewed p.D143 0.453 117 0% 109 33.9% - - - - - HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like CDH5 1003 genome.wustl.edu 37 16 66424469 66424469 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001795.3 +1 reviewed p.N315 0.864 69 0% 66 33.3% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like CDH5 1003 genome.wustl.edu 37 16 66434906 66434906 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001795.3 +1 reviewed p.I608 1.000 21 0% 43 53.5% - - - - - NULL CMTM1 113540 genome.wustl.edu 37 16 66600489 66600489 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_052999.3 +1 reviewed p.A25T 0.000 39 0% 66 13.6% - - unknown(0) - - NULL CMTM1 113540 genome.wustl.edu 37 16 66611057 66611057 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_052999.3 +1 reviewed p.I214 0.000 201 0% 288 37.5% - - - - - HMMPfam_MARVEL CMTM2 146225 genome.wustl.edu 37 16 66621835 66621835 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144673.2 +1 reviewed p.A187V 0.008 129 0% 113 40.7% - - benign(0) tolerated(1) - HMMPfam_MARVEL CMTM4 146223 genome.wustl.edu 37 16 66655975 66655975 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178818.2 -1 reviewed p.R205C 1.000 27 0% 49 34.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL NAE1 8883 genome.wustl.edu 37 16 66847725 66847725 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003905.3 -1 reviewed p.F289L 1.000 343 0% 247 35.6% - - benign(0.015) tolerated(0.83) neutral(0.001) superfamily_Activating enzymes of the ubiquitin-like proteins CA7 766 genome.wustl.edu 37 16 66881124 66881124 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005182.2 +1 reviewed p.R78* 1.000 68 0% 110 31.8% - - - - - HMMPfam_Carb_anhydrase,superfamily_Euk_COanhd PDP2 57546 genome.wustl.edu 37 16 66919297 66919297 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020786.1 +1 validated p.T370 0.000 197 0% 244 40.6% - - - - - HMMSmart_SM00332,superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMPfam_PP2C PDP2 57546 genome.wustl.edu 37 16 66919602 66919602 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020786.1 +1 validated p.T472M 1.000 28 0% 20 35% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00332,superfamily_Protein serine/threonine phosphatase 2C catalytic domain CES4A 283848 genome.wustl.edu 37 16 67042970 67042970 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173815.4 +1 validated p.K467 0.994 83 0% 122 28.7% - - - - - HMMPfam_COesterase,superfamily_SSF53474 B3GNT9 84752 genome.wustl.edu 37 16 67183938 67183938 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033309.2 -1 validated p.R151C 1.000 14 0% 13 53.8% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Galactosyl_T HSF4 3299 genome.wustl.edu 37 16 67199707 67199707 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001040667.2 +1 reviewed p.F106 1.000 4 0.000 7 0.571 - - - - - "HMMPfam_HSF_DNA-bind,HMMSmart_SM00415,superfamily_""Winged helix"" DNA-binding domain" ELMO3 79767 genome.wustl.edu 37 16 67236411 67236411 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024712.3 +1 reviewed p.R511Q 1.000 64 0% 123 28.5% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_ELMO_CED12 TMEM208 29100 genome.wustl.edu 37 16 67262736 67262736 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014187.3 +1 validated p.V112 0.999 120 0% 165 41.2% - - - - - HMMPfam_DUF788 FHOD1 29109 genome.wustl.edu 37 16 67271164 67271164 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013241.2 -1 reviewed p.R324H 0.097 11 0% 29 37.9% - - probably_damaging(1) tolerated(0.15) deleterious(0.741) NULL FHOD1 29109 genome.wustl.edu 37 16 67271473 67271473 + Splice_Site SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013241.2 -1 reviewed e8-1 0.995 82 0% 129 38.8% - - - - - - SLC9A5 6553 genome.wustl.edu 37 16 67288969 67288969 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004594.2 +1 validated p.S179I 1.000 94 0% 135 37% - - probably_damaging(0.976) deleterious(0) deleterious(0.863) HMMPfam_Na_H_Exchanger PLEKHG4 25894 genome.wustl.edu 37 16 67314086 67314086 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001129727.1 +1 reviewed p.G47C 0.000 24 0% 62 40.3% - - possibly_damaging(0.793) tolerated(0.05) deleterious(0.643) NULL KCTD19 146212 genome.wustl.edu 37 16 67338354 67338354 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001100915.1 -1 provisional p.E141* 1.000 152 0% 136 34.6% - - - - - NULL ZDHHC1 29800 genome.wustl.edu 37 16 67428935 67428935 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013304.2 -1 validated p.C400 0.670 22 0% 37 48.6% - - - - - NULL ATP6V0D1 9114 genome.wustl.edu 37 16 67472980 67472980 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004691.4 -1 reviewed p.R237H 1.000 47 0% 77 36.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_vATP-synt_AC39,superfamily_V-type ATP synthase subunit C C16orf48 84080 genome.wustl.edu 37 16 67697371 67697371 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032140.1 -1 predicted p.R278C 0.021 24 0% 60 28.3% - - possibly_damaging(0.598) deleterious(0.02) deleterious(0.590) NULL CENPT 80152 genome.wustl.edu 37 16 67863371 67863371 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025082.3 -1 validated p.R412Q 0.000 74 0% 147 39.5% - - benign(0.034) tolerated(0.19) neutral(0.052) NULL NUTF2 10204 genome.wustl.edu 37 16 67902250 67902250 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005796.1 +1 reviewed p.A36V 1.000 159 0% 165 13.3% - - benign(0.001) tolerated(0.32) neutral(0.024) HMMPfam_NTF2,PatternScan_WD_REPEATS_1,superfamily_NTF2-like EDC4 23644 genome.wustl.edu 37 16 67914657 67914657 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014329.3 +1 validated p.E765 0.954 30 0% 86 32.6% - - - - - NULL SLC12A4 6560 genome.wustl.edu 37 16 67985091 67985091 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005072.4 -1 validated p.A417T 0.890 91 0% 159 34% - - benign(0) tolerated(1) - HMMPfam_AA_permease SLC12A4 6560 genome.wustl.edu 37 16 67985802 67985802 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005072.4 -1 validated p.S352 0.961 30 0% 49 40.8% - - - - - HMMPfam_AA_permease DPEP2 64174 genome.wustl.edu 37 16 68026018 68026018 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022355.2 -1 validated p.R157C 0.118 133 0% 226 37.6% - - probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_Peptidase_M19,superfamily_Metallo-dependent hydrolases NFATC3 4775 genome.wustl.edu 37 16 68224804 68224804 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173165.1 +1 reviewed p.Q744H 0.999 82 0% 68 36.8% - - benign(0.396) deleterious(0.03) deleterious(0.491) NULL ESRP2 80004 genome.wustl.edu 37 16 68265869 68265869 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024939.2 -1 validated p.E379K 0.998 40 0% 61 27.9% - - benign(0.02) tolerated(0.18) neutral(0.057) HMMSmart_RRM,superfamily_SSF54928 PRMT7 54496 genome.wustl.edu 37 16 68391085 68391085 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_019023.2 +1 validated p.G679 0.975 46 0% 117 29.9% - - - - - superfamily_S-adenosyl-L-methionine-dependent methyltransferases ZFP90 146198 genome.wustl.edu 37 16 68598203 68598203 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_133458.2 +1 provisional p.A505S 1.000 94 0% 39 23.1% - - benign(0.346) tolerated(0.05) neutral(0.455) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers COG8 84342 genome.wustl.edu 37 16 69368577 69368577 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032382.4 -1 reviewed p.P420 0.001 72 0% 137 38.7% - - - - - NULL TERF2 7014 genome.wustl.edu 37 16 69395374 69395374 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005652.2 -1 reviewed p.W411* 1.000 236 0% 133 28.6% - - - - - NULL WWP2 11060 genome.wustl.edu 37 16 69833102 69833102 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007014.3 +1 reviewed p.D82Y 1.000 120 0% 90 30% - - probably_damaging(0.987) tolerated(0.34) neutral(0.460) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB WWP2 11060 genome.wustl.edu 37 16 69964077 69964077 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007014.3 +1 reviewed p.Y454C 1.000 61 0% 90 42.2% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_WW,HMMSmart_WW,PatternScan_WW_DOMAIN_1,superfamily_WW_Rsp5_WWP CLEC18A 348174 genome.wustl.edu 37 16 69996934 69996934 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182619.2 +1 validated p.R423C 0.999 350 0% 672 19.3% - - probably_damaging(1) tolerated(0.1) deleterious(0.786) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like,PatternScan_C_TYPE_LECTIN_1 MTSS1L 92154 genome.wustl.edu 37 16 70713780 70713780 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138383.2 -1 provisional p.N97 0.915 10 0% 34 32.4% - - - - - HMMPfam_IMD VAC14 55697 genome.wustl.edu 37 16 70796857 70796857 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018052.3 -1 validated p.T411M 0.910 78 0% 64 37.5% - - benign(0.019) tolerated(0.11) neutral(0.273) superfamily_ARM-type_fold ATXN1L 342371 genome.wustl.edu 37 16 71885079 71885079 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001137675.2 +1 validated p.T479M 0.996 110 0% 153 35.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AXH,superfamily_Ataxin-1_HBP1 ATXN1L 342371 genome.wustl.edu 37 16 71885630 71885630 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001137675.2 +1 validated p.A663T 1.000 10 0% 27 37% - - benign(0.002) tolerated(0.35) neutral(0.021) NULL PKD1L3 342372 genome.wustl.edu 37 16 71963549 71963549 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000335106 -1 known p.Q1695H 0.998 287 0% 182 14.3% - - - - - NULL PKD1L3 342372 genome.wustl.edu 37 16 72013696 72013696 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000335106 -1 known p.V463F 0.031 96 1% 40 30% - - - - - NULL DHX38 9785 genome.wustl.edu 37 16 72141656 72141656 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014003.3 +1 reviewed p.I974 0.922 53 0% 77 31.2% - - - - - HMMPfam_HA2,superfamily_SSF52540 DHX38 9785 genome.wustl.edu 37 16 72142276 72142276 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014003.3 +1 reviewed p.R1039W 1.000 122 0% 124 39.5% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL PMFBP1 83449 genome.wustl.edu 37 16 72184605 72184605 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031293.2 -1 validated p.L180I 0.995 108 0% 38 21.1% - - probably_damaging(0.995) tolerated(0.14) deleterious(0.707) NULL ZFHX3 463 genome.wustl.edu 37 16 72993702 72993702 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006885.3 -1 reviewed p.D115N 1.000 16 0% 29 34.5% - - unknown(0) - - NULL MLKL 197259 genome.wustl.edu 37 16 74719413 74719413 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152649.2 -1 validated p.R264H 0.995 243 0% 198 35.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) ZNRF1 84937 genome.wustl.edu 37 16 75127537 75127537 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032268.4 +1 reviewed p.C164 1.000 176 0% 165 37.6% - - - - - NULL LDHD 197257 genome.wustl.edu 37 16 75148517 75148517 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153486.2 -1 reviewed p.R179H 1.000 12 0% 20 35% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FAD_binding_4,superfamily_FAD-binding domain CTRB2 440387 genome.wustl.edu 37 16 75239658 75239658 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001025200.3 -1 validated p.Q99 1.000 96 0% 191 18.8% - - - - - HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys CTRB1 1504 genome.wustl.edu 37 16 75252932 75252932 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001906.4 +1 validated p.C9 1.000 54 0% 108 31.5% - - - - - NULL CHST6 4166 genome.wustl.edu 37 16 75512726 75512726 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021615.4 -1 reviewed p.R334H 1.000 20 0% 33 42.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sulfotransfer_1,superfamily_SSF52540 CHST6 4166 genome.wustl.edu 37 16 75512839 75512839 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021615.4 -1 reviewed p.T296 0.765 12 0% 22 40.9% - - - - - HMMPfam_Sulfotransfer_1,superfamily_SSF52540 CHST5 23563 genome.wustl.edu 37 16 75563222 75563222 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024533.3 -1 validated p.A354D 1.000 4 0.000 20 0.350 - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases TMEM231 79583 genome.wustl.edu 37 16 75589913 75589913 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001077416.1 -1 validated p.A62V 0.001 12 0% 20 45% - - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_NAcGluc_Transf ADAT1 23536 genome.wustl.edu 37 16 75646481 75646481 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012091.2 -1 reviewed p.L235I 0.000 246 0% 152 42.1% - - possibly_damaging(0.465) tolerated(0.34) neutral(0.176) HMMPfam_A_deamin,HMMSmart_SM00552 CNTNAP4 85445 genome.wustl.edu 37 16 76501295 76501295 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033401.3 +1 reviewed p.V510A 0.259 260 0% 68 30.9% - - - - - NULL CNTNAP4 85445 genome.wustl.edu 37 16 76569632 76569632 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138994.3 +1 validated p.F909L 1.000 71 0% 17 47.1% - - possibly_damaging(0.508) deleterious(0.01) deleterious(0.576) HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases CNTNAP4 85445 genome.wustl.edu 37 16 76592471 76592471 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033401.3 +1 reviewed p.E1273* 1.000 162 0% 41 22% - - benign(0.113) tolerated(0.08) neutral(0.309) NULL ADAMTS18 170692 genome.wustl.edu 37 16 77396115 77396115 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_199355.2 -1 reviewed p.F368S 1.000 131 0% 33 39.4% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" ADAMTS18 170692 genome.wustl.edu 37 16 77397737 77397737 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_199355.2 -1 reviewed p.V340M 1.000 98 0% 32 34.4% - - benign(0.024) deleterious(0) neutral(0.446) "superfamily_Metalloproteases (""zincins"") catalytic domain" VAT1L 57687 genome.wustl.edu 37 16 77859168 77859168 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020927.1 +1 provisional p.V130A 1.000 74 0% 52 26.9% - - benign(0.005) tolerated(0.66) neutral(0.003) superfamily_GroES_like,HMMPfam_ADH_N PKD1L2 114780 genome.wustl.edu 37 16 81181083 81181083 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_052892.3 -1 reviewed p.L1670I 1.000 97 0% 86 31.4% - - possibly_damaging(0.916) deleterious(0.01) deleterious(0.772) NULL PKD1L2 114780 genome.wustl.edu 37 16 81208336 81208336 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001076780.1 -1 reviewed p.V923I 0.000 76 0% 58 34.5% - - benign(0.002) tolerated(0.61) neutral(0.004) NULL BCMO1 53630 genome.wustl.edu 37 16 81301674 81301674 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017429.2 +1 reviewed p.A261T 1.000 119 0% 111 35.1% - - benign(0.035) tolerated(0.08) neutral(0.302) HMMPfam_RPE65 GAN 8139 genome.wustl.edu 37 16 81398614 81398614 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022041.3 +1 reviewed p.Y424 0.976 63 0% 57 31.6% - - - - - HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central GAN 8139 genome.wustl.edu 37 16 81411177 81411177 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022041.3 +1 reviewed p.F590 1.000 58 0% 30 36.7% - - - - - NULL CMIP 80790 genome.wustl.edu 37 16 81691379 81691379 + Splice_Site SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198390.2 +1 validated e5-1 1.000 91 0% 125 32% - - - - - - CMIP 80790 genome.wustl.edu 37 16 81691410 81691410 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198390.2 +1 validated p.N224H 1.000 111 0% 134 41.8% - - benign(0.024) tolerated(0.12) neutral(0.262) NULL PLCG2 5336 genome.wustl.edu 37 16 81934352 81934352 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002661.2 +1 validated p.S443 0.047 20 0% 33 54.5% - - - - - HMMPfam_PI-PLC-X,HMMSmart_PLCXc,superfamily_PLC-like_Pdiesterase_TIM-brl PLCG2 5336 genome.wustl.edu 37 16 81944326 81944326 + Splice_Site SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002661.2 +1 validated e17+1 1.000 30 0% 43 11.6% - - - - - - PLCG2 5336 genome.wustl.edu 37 16 81971494 81971494 + Missense_Mutation SNP A A T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002661.2 +1 validated p.T1062S 1.000 60 0% 36 11.1% - - benign(0.003) tolerated(0.76) neutral(0.001) HMMSmart_C2,superfamily_C2_CaLB CDH13 1012 genome.wustl.edu 37 16 83159070 83159070 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001257.3 +1 reviewed p.E149D 1.000 153 0% 70 37.1% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Cadherin,superfamily_Cadherin MBTPS1 8720 genome.wustl.edu 37 16 84125349 84125349 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003791.2 -1 reviewed p.P317 0.286 81 0% 62 29% - - - - - HMMPfam_Peptidase_S8,superfamily_Pept_S8_S53 MBTPS1 8720 genome.wustl.edu 37 16 84135383 84135383 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003791.2 -1 reviewed p.K2N 1.000 127 0% 71 28.2% - - benign(0.08) deleterious(0) neutral(0.450) NULL DNAAF1 123872 genome.wustl.edu 37 16 84209571 84209571 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178452.4 +1 reviewed p.S577 0.000 57 0% 66 30.3% - - - - - NULL TAF1C 9013 genome.wustl.edu 37 16 84216898 84216898 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005679.2 -1 reviewed p.A120 0.946 94 0% 194 37.1% - - - - - NULL ATP2C2 9914 genome.wustl.edu 37 16 84488443 84488443 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014861.2 +1 validated p.A667V 0.976 73 1.4% 97 35.1% - - benign(0.217) tolerated(0.16) neutral(0.081) HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Calcium ATPase transmembrane domain M ENSG00000248612 0 genome.wustl.edu 37 16 84493038 84493038 + RNA SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000508094 -1 known NULL 0.002 30 0% 41 36.6% - - - - - - KIAA1609 57707 genome.wustl.edu 37 16 84514163 84514163 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020947.3 -1 validated p.A410V 0.697 64 1.6% 83 39.8% - - benign(0.358) deleterious(0.02) deleterious(0.496) HMMPfam_TLD,HMMSmart_SM00584 USP10 9100 genome.wustl.edu 37 16 84779007 84779007 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005153.2 +1 reviewed p.T307M 0.000 58 0% 45 33.3% - - benign(0.002) tolerated(0.11) neutral(0.272) NULL KIAA0182 23199 genome.wustl.edu 37 16 85698628 85698628 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014615.2 +1 validated p.E884D 1.000 58 0% 60 40% - - probably_damaging(0.988) deleterious(0.04) deleterious(0.786) NULL COX4NB 10328 genome.wustl.edu 37 16 85814026 85814026 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006067.4 -1 validated p.Y144 1.000 60 0% 93 41.9% - - - - - HMMPfam_UPF0172 COX4NB 10328 genome.wustl.edu 37 16 85822654 85822654 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006067.4 -1 validated p.I78 1.000 130 0% 115 41.7% - - - - - HMMPfam_UPF0172 FOXF1 2294 genome.wustl.edu 37 16 86544549 86544549 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001451.2 +1 reviewed p.D125G 1.000 24 4.2% 59 44.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Fork_head,HMMSmart_FH,superfamily_SSF46785 FOXL1 2300 genome.wustl.edu 37 16 86612433 86612433 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005250.2 +1 validated p.A35V 0.175 22 0% 46 41.3% - - possibly_damaging(0.747) deleterious(0.02) deleterious(0.657) NULL FBXO31 79791 genome.wustl.edu 37 16 87377236 87377236 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024735.3 -1 validated p.G209S 1.000 50 0% 86 38.4% - - probably_damaging(1) tolerated(0.1) deleterious(0.786) NULL MAP1LC3B 81631 genome.wustl.edu 37 16 87435796 87435796 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022818.4 +1 reviewed p.Y38H 1.000 111 0% 120 10.8% - - probably_damaging(0.973) tolerated(0.13) deleterious(0.667) HMMPfam_MAP1_LC3,superfamily_Ubiquitin-like MAP1LC3B 81631 genome.wustl.edu 37 16 87436622 87436622 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022818.4 +1 reviewed p.Y99 0.978 203 0% 207 31.4% - - - - - HMMPfam_MAP1_LC3,superfamily_Ubiquitin-like ZCCHC14 23174 genome.wustl.edu 37 16 87445764 87445764 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015144.2 -1 validated p.A718T 0.001 24 0% 70 35.7% - - unknown(0) tolerated(0.36) - NULL JPH3 57338 genome.wustl.edu 37 16 87636893 87636893 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020655.2 +1 reviewed p.F47 1.000 30 0% 66 37.9% - - - - - HMMPfam_MORN,HMMSmart_SM00698,superfamily_Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain KLHDC4 54758 genome.wustl.edu 37 16 87744863 87744863 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017566.3 -1 validated p.R341H 1.000 47 0% 80 16.3% - - possibly_damaging(0.908) tolerated(0.08) deleterious(0.661) superfamily_Galactose oxidase central domain,HMMPfam_Kelch_2 SLC7A5 8140 genome.wustl.edu 37 16 87902836 87902836 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003486.5 -1 validated p.G65S 1.000 9 0.000 31 0.355 - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AA_permease CA5A 763 genome.wustl.edu 37 16 87960363 87960363 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001739.1 -1 reviewed p.E111K 0.951 35 0% 67 34.3% - - possibly_damaging(0.536) tolerated(0.12) neutral(0.442) HMMPfam_Carb_anhydrase,superfamily_Carbonic anhydrase ZNF469 84627 genome.wustl.edu 37 16 88494941 88494941 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001127464.1 +1 reviewed p.L355F 0.002 3 0.000 11 0.455 - - possibly_damaging(0.922) deleterious(0) deleterious(0.816) NULL ZNF469 84627 genome.wustl.edu 37 16 88498324 88498324 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001127464.1 +1 reviewed p.F1454 0.000 49 0% 140 42.1% - - - - - NULL ZNF469 84627 genome.wustl.edu 37 16 88501727 88501727 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001127464.1 +1 reviewed p.R2589* 0.000 15 0% 53 24.5% - - - - - NULL ZNF469 84627 genome.wustl.edu 37 16 88504710 88504710 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001127464.1 +1 reviewed p.A3583V 0.000 5 0.000 17 0.471 - - benign(0.355) tolerated(1) neutral(0.113) NULL ZC3H18 124245 genome.wustl.edu 37 16 88664695 88664695 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144604.3 +1 validated p.P266 0.992 61 0% 76 27.6% - - - - - NULL ZC3H18 124245 genome.wustl.edu 37 16 88677874 88677874 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144604.3 +1 validated p.D469N 0.999 12 0% 25 40% - - unknown(0) tolerated(0.28) - NULL CYBA 1535 genome.wustl.edu 37 16 88713182 88713182 + Missense_Mutation SNP G G A rs179363892 TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000101.2 -1 reviewed p.R90W 1.000 42 0% 113 39.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cytochrom_B558a CTU2 348180 genome.wustl.edu 37 16 88778074 88778074 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001012759.1 +1 validated p.R105H 1.000 82 0% 173 31.8% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Adenine nucleotide alpha hydrolases-like CTU2 348180 genome.wustl.edu 37 16 88781328 88781328 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001012759.1 +1 validated p.K471 1.000 31 0% 80 15% - - - - - NULL PIEZO1 9780 genome.wustl.edu 37 16 88783011 88783011 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000451779 -1 known p.N1831 0.559 22 0% 42 33.3% - - - - - NULL PIEZO1 9780 genome.wustl.edu 37 16 88788064 88788064 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000451779 -1 known p.R1299H 1.000 25 0% 47 46.8% - - probably_damaging(0.994) tolerated(0.18) deleterious(0.508) NULL PIEZO1 9780 genome.wustl.edu 37 16 88788077 88788077 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000451779 -1 known p.V1295M 0.000 27 0% 46 34.8% - - benign(0.145) tolerated(0.21) neutral(0.056) NULL PIEZO1 9780 genome.wustl.edu 37 16 88788368 88788368 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000451779 -1 known p.E1225K 1.000 9 0.000 21 0.286 - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PIEZO1 9780 genome.wustl.edu 37 16 88789559 88789559 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000451779 -1 known p.G1017V 0.059 12 0% 63 44.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CDT1 81620 genome.wustl.edu 37 16 88872463 88872463 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030928.3 +1 validated p.S289 0.000 20 0% 40 30% - - - - - "HMMPfam_CDT1,superfamily_""Winged helix"" DNA-binding domain" GALNS 2588 genome.wustl.edu 37 16 88902225 88902225 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000512.4 -1 reviewed p.R222 0.000 69 0% 148 34.5% - - - - - HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core PABPN1L 390748 genome.wustl.edu 37 16 88932034 88932034 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080487.1 -1 provisional p.C132 0.000 22 0% 53 43.4% - - - - - superfamily_RNA-binding domain RBD ZNF778 197320 genome.wustl.edu 37 16 89294388 89294388 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182531.2 +1 validated p.T536 0.016 142 0.7% 152 11.2% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ANKRD11 29123 genome.wustl.edu 37 16 89348420 89348420 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013275.4 -1 validated p.P1510 0.007 111 0% 230 37.4% - - - - - superfamily_Ankyrin repeat ANKRD11 29123 genome.wustl.edu 37 16 89357057 89357057 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013275.4 -1 validated p.D193Y 0.999 42 0% 98 32.7% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat SPG7 6687 genome.wustl.edu 37 16 89597174 89597174 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003119.2 +1 reviewed p.H315 0.057 85 0% 134 38.8% - - - - - HMMPfam_FtsH_ext,superfamily_P-loop containing nucleoside triphosphate hydrolases SPG7 6687 genome.wustl.edu 37 16 89598891 89598891 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003119.2 +1 reviewed p.R391W 1.000 14 0% 23 34.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00382,HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases SPG7 6687 genome.wustl.edu 37 16 89620301 89620301 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003119.2 +1 reviewed p.A679V 0.002 9 0.000 20 0.450 - - benign(0) tolerated(0.24) neutral(0.037) HMMPfam_Peptidase_M41,superfamily_P-loop containing nucleoside triphosphate hydrolases CPNE7 27132 genome.wustl.edu 37 16 89645276 89645276 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014427.4 +1 reviewed p.K123 0.001 114 0% 209 39.7% - - - - - HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) CDK10 8558 genome.wustl.edu 37 16 89756996 89756996 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_052988.4 +1 reviewed p.A66T 1.000 236 0% 423 12.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase TCF25 22980 genome.wustl.edu 37 16 89971346 89971346 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014972.2 +1 validated p.S490R 1.000 18 0% 50 18% - - possibly_damaging(0.452) tolerated(0.07) neutral(0.467) HMMPfam_DUF654 TCF25 22980 genome.wustl.edu 37 16 89971416 89971416 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014972.2 +1 validated p.A514T 0.142 28 0% 59 42.4% - - benign(0) tolerated(0.31) neutral(0.027) HMMPfam_DUF654 TUBB3 10381 genome.wustl.edu 37 16 90001591 90001591 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006086.2 +1 validated p.G244 1.000 67 0% 85 28.2% - - - - - superfamily_Tubulin C-terminal domain-like VPS53 55275 genome.wustl.edu 37 17 422435 422435 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001128159.1 -1 reviewed p.A811V 0.994 49 0% 69 31.9% - - benign(0.022) tolerated(0.51) neutral(0.010) NULL VPS53 55275 genome.wustl.edu 37 17 565055 565055 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001128159.1 -1 reviewed p.E122 1.000 331 0% 322 37% - - - - - HMMPfam_Vps53_N GEMIN4 50628 genome.wustl.edu 37 17 649817 649817 + Missense_Mutation SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015721.2 -1 reviewed p.D489V 0.985 35 0% 45 40% - - benign(0.268) tolerated(0.06) neutral(0.351) NULL NXN 64359 genome.wustl.edu 37 17 729296 729296 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022463.3 -1 validated p.R128Q 1.000 260 0% 342 30.4% - - possibly_damaging(0.559) tolerated(0.14) neutral(0.440) superfamily_Thioredoxin-like PRPF8 10594 genome.wustl.edu 37 17 1579034 1579034 + Missense_Mutation SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006445.3 -1 reviewed p.T918S 1.000 129 0% 124 30.6% - - benign(0.31) tolerated(0.06) neutral(0.419) NULL WDR81 124997 genome.wustl.edu 37 17 1630687 1630687 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000409644 +1 known p.K812E 1.000 9 0.000 35 0.429 - - benign(0.044) tolerated(0.77) neutral(0.004) superfamily_WD40 repeat-like LOC100288244 100288244 genome.wustl.edu 37 17 1638917 1638917 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002343496.1 -1 model p.A14T 0.996 24 0% 76 34.2% - - probably_damaging(0.999) tolerated(1) deleterious(0.490) NULL SERPINF2 5345 genome.wustl.edu 37 17 1657507 1657507 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000934.3 +1 reviewed p.E385 1.000 35 0% 69 37.7% - - - - - HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin RTN4RL1 146760 genome.wustl.edu 37 17 1840633 1840633 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178568.2 -1 validated p.I161 0.320 36 0% 59 42.4% - - - - - HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like SGSM2 9905 genome.wustl.edu 37 17 2279498 2279498 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014853.2 +1 validated p.R851H 1.000 73 0% 127 27.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TBC,HMMSmart_TBC,superfamily_RabGAP_TBC MNT 4335 genome.wustl.edu 37 17 2290510 2290510 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020310.2 -1 reviewed p.A478 0.998 60 0% 102 32.4% - - - - - NULL KIAA0664 23277 genome.wustl.edu 37 17 2601479 2601479 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015229.3 -1 validated p.L520 1.000 39 0% 75 36% - - - - - NULL KIAA0664 23277 genome.wustl.edu 37 17 2604112 2604112 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015229.3 -1 validated p.R307C 1.000 14 0% 38 44.7% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_SSF103107 OR1E1 8387 genome.wustl.edu 37 17 3300795 3300795 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003553.2 -1 validated p.V304F 0.000 119 0% 67 32.8% - - benign(0) tolerated(0.07) neutral(0.319) superfamily_SSF81321 OR1E1 8387 genome.wustl.edu 37 17 3301146 3301146 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003553.2 -1 validated p.L187 0.053 133 0% 57 36.8% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 TRPV1 7442 genome.wustl.edu 37 17 3493666 3493666 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018727.5 -1 reviewed p.A209T 1.000 60 0% 112 25% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat SHPK 23729 genome.wustl.edu 37 17 3513887 3513887 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013276.2 -1 reviewed p.M468I 1.000 59 0% 65 21.5% - - benign(0.012) tolerated(0.2) neutral(0.050) superfamily_Actin-like ATPase domain GSG2 83903 genome.wustl.edu 37 17 3627685 3627685 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031965.2 +1 validated p.V152 0.561 6 0.000 30 0.467 - - - - - NULL GSG2 83903 genome.wustl.edu 37 17 3628867 3628867 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031965.2 +1 validated p.S546 0.062 64 0% 90 42.2% - - - - - HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) ITGAE 3682 genome.wustl.edu 37 17 3651318 3651318 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002208.4 -1 reviewed p.S685P 0.979 78 0% 105 31.4% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMSmart_Int_alpha,HMMPfam_Integrin_alpha2,superfamily_SSF69179 C17orf85 55421 genome.wustl.edu 37 17 3725292 3725292 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001114118.1 -1 provisional p.G284V 1.000 250 0% 141 36.2% - - probably_damaging(0.961) deleterious(0) deleterious(0.849) NULL CAMKK1 84254 genome.wustl.edu 37 17 3772875 3772875 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_172207.2 -1 reviewed p.P454H 0.996 77 0% 114 37.7% - - benign(0.103) tolerated(0.11) neutral(0.280) superfamily_Kinase_like P2RX1 5023 genome.wustl.edu 37 17 3801112 3801112 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002558.2 -1 reviewed p.S399Y 0.997 56 0% 143 38.5% - - probably_damaging(0.982) deleterious(0) deleterious(0.871) NULL ATP2A3 489 genome.wustl.edu 37 17 3846007 3846007 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_174953.1 -1 reviewed p.R480W 1.000 58 0% 111 32.4% - - probably_damaging(0.96) deleterious(0) deleterious(0.848) HMMPfam_Hydrolase,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_Calcium ATPase transmembrane domain M ZZEF1 23140 genome.wustl.edu 37 17 3916781 3916781 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015113.3 -1 validated p.I2847 1.000 36 0% 57 35.1% - - - - - NULL ZZEF1 23140 genome.wustl.edu 37 17 3924558 3924558 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015113.3 -1 validated p.H2423 0.028 88 0% 67 34.3% - - - - - NULL ANKFY1 51479 genome.wustl.edu 37 17 4109764 4109764 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016376.3 -1 validated p.N250 0.998 133 0% 121 9.9% - - - - - superfamily_ANK GGT6 124975 genome.wustl.edu 37 17 4462209 4462209 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001122890.1 -1 validated p.R195S 0.992 15 0% 36 30.6% - - possibly_damaging(0.487) deleterious(0.01) deleterious(0.568) HMMPfam_G_glu_transpept PELP1 27043 genome.wustl.edu 37 17 4575216 4575216 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014389.2 -1 validated p.P1024S 0.388 48 0% 81 28.4% - - probably_damaging(0.996) deleterious(0.02) deleterious(0.845) NULL ZMYND15 84225 genome.wustl.edu 37 17 4644131 4644131 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001136046.1 +1 provisional p.H96 1.000 47 0% 76 38.2% - - - - - NULL MINK1 50488 genome.wustl.edu 37 17 4794897 4794897 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153827.4 +1 reviewed p.T629 0.358 48 2.1% 98 43.9% - - - - - NULL CHRNE 1145 genome.wustl.edu 37 17 4802835 4802835 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000080.3 -1 reviewed p.M320I 1.000 19 0% 46 43.5% - - benign(0.028) tolerated(1) neutral(0.002) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM CHRNE 1145 genome.wustl.edu 37 17 4805255 4805255 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000080.3 -1 reviewed p.D158N 1.000 43 0% 60 10% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL ENO3 2027 genome.wustl.edu 37 17 4856376 4856376 + Missense_Mutation SNP A A T rs238238 byCluster;byFrequency;by2Hit2Allele;byHapMap;by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001976.3 +1 reviewed p.N71I 1.000 47 0% 130 46.9% - - benign(0) tolerated(0.12) neutral(0.261) HMMPfam_Enolase_N,superfamily_Enolase N-terminal domain-like KIF1C 10749 genome.wustl.edu 37 17 4925425 4925425 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006612.5 +1 validated p.R683 0.975 7 0.000 33 0.333 - - - - - NULL ZFP3 124961 genome.wustl.edu 37 17 4994836 4994836 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153018.2 +1 validated p.E13* 1.000 112 0% 113 42.5% - - - - - NULL ZNF232 7775 genome.wustl.edu 37 17 5009398 5009398 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014519.2 -1 validated p.I352M 0.999 151 0% 220 35.9% - - unknown(0) tolerated(0.22) - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF594 84622 genome.wustl.edu 37 17 5086692 5086692 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032530.1 -1 validated p.R287I 0.985 133 0% 137 34.3% - - probably_damaging(0.984) deleterious(0.04) deleterious(0.779) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 MIS12 79003 genome.wustl.edu 37 17 5392783 5392783 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024039.1 +1 provisional p.R201* 0.243 52 0% 87 34.5% - - - - - NULL WSCD1 23302 genome.wustl.edu 37 17 5998475 5998475 + Missense_Mutation SNP G G C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015253.1 +1 validated p.A261P 0.003 79 0% 94 33% - - benign(0.167) tolerated(0.06) neutral(0.338) HMMPfam_WSC,HMMSmart_WSC TEKT1 83659 genome.wustl.edu 37 17 6703447 6703447 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_053285.1 -1 reviewed p.D386N 1.000 60 0% 23 17.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Tektin SLC16A11 162515 genome.wustl.edu 37 17 6945878 6945878 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153357.1 -1 validated p.T208I 0.940 11 0% 33 36.4% - - benign(0.001) tolerated(0.07) neutral(0.319) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter CLEC10A 10462 genome.wustl.edu 37 17 6979401 6979401 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182906.2 -1 reviewed p.V141 0.054 43 0% 66 40.9% - - - - - HMMPfam_Lectin_N ASGR2 433 genome.wustl.edu 37 17 7011806 7011806 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001181.3 -1 reviewed p.T109 0.001 37 0% 54 38.9% - - - - - HMMPfam_Lectin_N C17orf81 23587 genome.wustl.edu 37 17 7162016 7162016 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_203413.1 +1 validated p.A250V 0.001 109 0% 219 10% - - benign(0.093) deleterious(0) neutral(0.452) HMMPfam_Hap2_elong SLC2A4 6517 genome.wustl.edu 37 17 7189843 7189843 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001042.2 +1 reviewed p.T475 0.051 155 0% 305 43.9% - - - - - HMMPfam_Sugar_tr,superfamily_MFS_gen_substrate_transporter YBX2 51087 genome.wustl.edu 37 17 7193598 7193598 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015982.3 -1 validated p.R239Q 1.000 11 0% 44 56.8% - - probably_damaging(0.994) tolerated(0.09) deleterious(0.748) NULL NEURL4 84461 genome.wustl.edu 37 17 7231094 7231094 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032442.2 -1 validated p.S131L 1.000 47 2.1% 81 29.6% - - unknown(0) deleterious(0) - HMMSmart_SM00588 TMEM95 339168 genome.wustl.edu 37 17 7259773 7259773 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000389982 +1 known p.S155F 0.411 168 0% 270 33.3% - - unknown(0) - - NULL TNK1 8711 genome.wustl.edu 37 17 7286605 7286605 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003985.3 +1 validated p.R67H 0.883 125 0% 240 37.5% - - benign(0.339) tolerated(0.06) neutral(0.429) NULL TNK1 8711 genome.wustl.edu 37 17 7286911 7286911 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003985.3 +1 validated p.L134 0.990 45 0% 91 35.2% - - - - - HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP TNK1 8711 genome.wustl.edu 37 17 7290726 7290726 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003985.3 +1 validated p.A476V 0.000 65 0% 114 32.5% - - benign(0) tolerated(0.53) neutral(0.007) NULL ZBTB4 57659 genome.wustl.edu 37 17 7366933 7366933 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001128833.1 -1 validated p.P456 0.345 85 0% 171 38% - - - - - NULL SLC35G6 643664 genome.wustl.edu 37 17 7385529 7385529 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001102614.1 +1 provisional p.R76* 0.996 206 0% 428 38.1% - - - - - superfamily_SSF103481 POLR2A 5430 genome.wustl.edu 37 17 7404318 7404318 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000937.3 +1 validated p.T647 0.840 380 0% 365 23.6% - - - - - HMMPfam_RNA_pol_Rpb1_3,superfamily_SSF64484 POLR2A 5430 genome.wustl.edu 37 17 7412374 7412374 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000937.3 +1 validated p.V1193M 1.000 73 0% 90 15.6% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_RNA_pol_Rpb1_7,HMMPfam_RNA_pol_Rpb1_5,superfamily_SSF64484 SENP3 26168 genome.wustl.edu 37 17 7468843 7468843 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000321337 +1 known p.R385Q 1.000 147 0% 267 33.7% - - probably_damaging(0.997) deleterious(0.04) deleterious(0.815) superfamily_SSF54001 MPDU1 9526 genome.wustl.edu 37 17 7490862 7490862 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004870.3 +1 reviewed p.A246V 0.056 62 0% 137 29.2% - - benign(0.012) tolerated(0.19) neutral(0.050) NULL WRAP53 55135 genome.wustl.edu 37 17 7592395 7592395 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018081.2 +1 validated p.D143 0.589 60 0% 101 43.6% - - - - - superfamily_WD40_like DNAH2 146754 genome.wustl.edu 37 17 7664167 7664167 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020877.2 +1 validated p.I965 1.000 174 0% 202 12.9% - - - - - superfamily_Spectrin repeat DNAH2 146754 genome.wustl.edu 37 17 7669692 7669692 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020877.2 +1 validated p.R1190W 0.998 71 1.4% 70 30% - - probably_damaging(0.991) deleterious(0.02) deleterious(0.827) NULL DNAH2 146754 genome.wustl.edu 37 17 7684102 7684102 + Splice_Site SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020877.2 +1 validated e37+2 0.997 60 0% 57 38.6% - - - - - - DNAH2 146754 genome.wustl.edu 37 17 7708391 7708391 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020877.2 +1 validated p.R3100Q 1.000 36 0% 71 23.9% - - benign(0.051) tolerated(0.54) neutral(0.010) NULL DNAH2 146754 genome.wustl.edu 37 17 7735948 7735948 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020877.2 +1 validated p.R4260C 0.999 68 0% 114 12.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Dynein_heavy CHD3 1107 genome.wustl.edu 37 17 7796726 7796726 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005271.2 +1 reviewed p.A270V 1.000 36 0% 55 34.5% - - probably_damaging(0.974) - - NULL GUCY2D 3000 genome.wustl.edu 37 17 7907256 7907256 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000180.3 +1 reviewed p.D270N 0.143 8 0.000 38 0.474 - - probably_damaging(0.975) tolerated(0.17) deleterious(0.476) HMMPfam_ANF_receptor,superfamily_SSF53822 GUCY2D 3000 genome.wustl.edu 37 17 7910401 7910401 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000180.3 +1 reviewed p.L468I 0.986 195 0% 383 33.7% - - benign(0.002) tolerated(0.41) neutral(0.015) NULL GUCY2D 3000 genome.wustl.edu 37 17 7915503 7915503 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000180.3 +1 reviewed p.G597 1.000 43 0% 67 14.9% - - - - - superfamily_Kinase_like,HMMPfam_Pkinase ALOX15B 247 genome.wustl.edu 37 17 7946140 7946140 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001141.2 +1 reviewed p.G205E 0.734 62 0% 102 35.3% - - benign(0.004) tolerated(0.6) neutral(0.004) superfamily_Lipoxigenase ALOXE3 59344 genome.wustl.edu 37 17 8017922 8017922 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021628.2 -1 reviewed p.G187V 1.000 110 0% 171 37.4% - - probably_damaging(0.996) tolerated(0.18) deleterious(0.518) superfamily_Lipoxygenase ALOXE3 59344 genome.wustl.edu 37 17 8019007 8019007 + Splice_Site SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021628.2 -1 reviewed e3-1 1.000 175 0% 301 36.2% - - - - - - SLC25A35 399512 genome.wustl.edu 37 17 8193969 8193969 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000396278 -1 known p.A253T 0.991 14 0% 24 33.3% - - possibly_damaging(0.659) deleterious(0) deleterious(0.677) superfamily_Mitoch_carrier,HMMPfam_Mito_carr ARHGEF15 22899 genome.wustl.edu 37 17 8219101 8219101 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173728.2 +1 reviewed p.R484C 0.831 102 0% 128 30.5% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain ODF4 146852 genome.wustl.edu 37 17 8248749 8248749 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153007.4 +1 reviewed p.W181* 1.000 230 0% 371 34.5% - - - - - NULL KRBA2 124751 genome.wustl.edu 37 17 8274703 8274703 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_213597.2 -1 provisional p.W50* 0.000 135 0% 178 31.5% - - - - - HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box MYH10 4628 genome.wustl.edu 37 17 8380302 8380302 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005964.1 -1 validated p.A1893V 1.000 43 0% 69 34.8% - - benign(0.017) tolerated(0.47) neutral(0.011) HMMPfam_Myosin_tail_1 MYH10 4628 genome.wustl.edu 37 17 8381682 8381682 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005964.1 -1 validated p.R1863* 0.998 116 0% 194 34.5% - - - - - HMMPfam_Myosin_tail_1 MYH10 4628 genome.wustl.edu 37 17 8416951 8416951 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005964.1 -1 validated p.E853* 1.000 187 0% 128 18% - - - - - NULL PIK3R5 23533 genome.wustl.edu 37 17 8789823 8789823 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001142633.1 -1 validated p.P669S 0.699 97 0% 143 32.9% - - possibly_damaging(0.761) tolerated(0.18) neutral(0.338) HMMPfam_PI3K_1B_p101 RCVRN 5957 genome.wustl.edu 37 17 9808123 9808123 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002903.2 -1 reviewed p.I125 1.000 42 0% 68 33.8% - - - - - HMMSmart_SM00054,HMMPfam_efhand,superfamily_EF-hand GAS7 8522 genome.wustl.edu 37 17 9837546 9837546 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_201433.1 -1 reviewed p.A274 0.699 84 0% 101 26.7% - - - - - HMMPfam_FCH,HMMSmart_SM00055 MYH13 8735 genome.wustl.edu 37 17 10248558 10248558 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003802.2 -1 validated p.F515 0.998 321 0% 171 39.8% - - - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYH8 4626 genome.wustl.edu 37 17 10298725 10298725 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002472.2 -1 reviewed p.R1563C 0.996 216 0% 158 32.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_tail_1 MYH8 4626 genome.wustl.edu 37 17 10303992 10303992 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002472.2 -1 reviewed p.S1150 0.373 60 0% 50 40% - - - - - HMMPfam_Myosin_tail_1 MYH8 4626 genome.wustl.edu 37 17 10322056 10322056 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002472.2 -1 reviewed p.P139 0.020 236 0% 93 16.1% - - - - - HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYH4 4622 genome.wustl.edu 37 17 10352280 10352280 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017533.2 -1 validated p.K1422 1.000 117 0% 38 36.8% - - - - - HMMPfam_Myosin_tail_1 MYH4 4622 genome.wustl.edu 37 17 10363547 10363547 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017533.2 -1 validated p.F413 0.000 186 0.5% 49 42.9% - - - - - HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYH3 4621 genome.wustl.edu 37 17 10534949 10534949 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002470.2 -1 reviewed p.K1755N 0.956 152 0% 131 40.5% - - possibly_damaging(0.678) deleterious(0) deleterious(0.686) HMMPfam_Myosin_tail_1 SHISA6 388336 genome.wustl.edu 37 17 11461317 11461317 + Missense_Mutation SNP G G A rs192374370 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_207386.3 +1 validated p.R451H 1.000 18 0% 32 37.5% - - probably_damaging(1) tolerated(0.12) deleterious(0.760) NULL DNAH9 1770 genome.wustl.edu 37 17 11572751 11572751 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001372.3 +1 reviewed p.R998I 0.000 70 0% 47 34% - - benign(0.001) tolerated(0.19) neutral(0.050) NULL DNAH9 1770 genome.wustl.edu 37 17 11572959 11572959 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001372.3 +1 reviewed p.T1067 0.969 161 0% 86 11.6% - - - - - superfamily_Spectrin repeat DNAH9 1770 genome.wustl.edu 37 17 11593170 11593170 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001372.3 +1 reviewed p.R1344Q 0.860 26 0% 15 40% - - benign(0.075) tolerated(0.32) neutral(0.029) HMMPfam_DHC_N2 DNAH9 1770 genome.wustl.edu 37 17 11659910 11659910 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001372.3 +1 reviewed p.R2255M 1.000 80 0% 50 44% - - possibly_damaging(0.92) deleterious(0) deleterious(0.816) HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH9 1770 genome.wustl.edu 37 17 11775037 11775037 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001372.3 +1 reviewed p.F3392L 1.000 87 0% 77 41.6% - - benign(0.281) tolerated(0.6) neutral(0.090) NULL DNAH9 1770 genome.wustl.edu 37 17 11872749 11872749 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001372.3 +1 reviewed p.R4456W 0.987 59 0% 26 38.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Dynein_heavy ZNF18 7566 genome.wustl.edu 37 17 11895985 11895985 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144680.2 -1 provisional p.G54 1.000 58 0% 51 17.6% - - - - - HMMPfam_SCAN,HMMSmart_SM00431 MAP2K4 6416 genome.wustl.edu 37 17 12032542 12032542 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003010.2 +1 reviewed p.P326 0.972 122 0% 70 45.7% - - - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase LOC100128006 100128006 genome.wustl.edu 37 17 12665812 12665812 + RNA SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XR_078523.1 -1 model NULL 0.000 3 0.000 14 0.571 - - - - - - HS3ST3B1 9953 genome.wustl.edu 37 17 14248727 14248727 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006041.1 +1 reviewed p.D313Y 1.000 67 0% 133 23.3% - - probably_damaging(0.991) deleterious(0.02) deleterious(0.827) HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases ENSG00000205325 0 genome.wustl.edu 37 17 14683378 14683378 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000379640 -1 known p.L37I 0.000 82 0% 57 45.6% - - unknown(0) - - NULL ZNF286A 57335 genome.wustl.edu 37 17 15620110 15620110 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001130842.1 +1 validated p.E358* 0.145 218 0% 94 29.8% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 NCOR1 9611 genome.wustl.edu 37 17 15938173 15938173 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006311.2 -1 reviewed p.T2347 0.003 129 0% 46 28.3% - - - - - NULL NCOR1 9611 genome.wustl.edu 37 17 15965143 15965143 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006311.2 -1 reviewed p.A1818V 1.000 29 0% 28 39.3% - - probably_damaging(0.996) deleterious(0.02) deleterious(0.845) NULL NCOR1 9611 genome.wustl.edu 37 17 15968894 15968894 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006311.2 -1 reviewed p.T1619I 1.000 213 0% 78 35.9% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL NCOR1 9611 genome.wustl.edu 37 17 16089913 16089913 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006311.2 -1 reviewed p.R66Q 0.996 68 0% 27 48.1% - - probably_damaging(0.999) deleterious(0.05) deleterious(0.836) NULL TRPV2 51393 genome.wustl.edu 37 17 16326202 16326202 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000455666 +1 known p.R166W 0.990 44 0% 56 32.1% - - - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat C17orf76-AS1 125144 genome.wustl.edu 37 17 16342473 16342473 + RNA SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NR_027159.1 +1 predicted NULL 0.000 10 0% 31 32.3% - - - - - - ZNF624 57547 genome.wustl.edu 37 17 16526016 16526016 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020787.2 -1 validated p.D728 0.999 215 0% 113 31.9% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers TNFRSF13B 23495 genome.wustl.edu 37 17 16852134 16852134 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012452.2 -1 reviewed p.Q121 0.002 182 0% 157 45.2% - - - - - NULL MPRIP 23164 genome.wustl.edu 37 17 17069108 17069108 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000313485 +1 known p.R379C 0.002 66 0% 118 34.7% - - - - - NULL COPS3 8533 genome.wustl.edu 37 17 17168244 17168244 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003653.2 -1 reviewed p.D165N 1.000 162 0% 115 26.1% - - possibly_damaging(0.646) deleterious(0.05) deleterious(0.572) NULL RAI1 10743 genome.wustl.edu 37 17 17700054 17700054 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030665.3 +1 reviewed p.E1264 0.820 21 0% 47 42.6% - - - - - NULL MYO15A 51168 genome.wustl.edu 37 17 18022917 18022917 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016239.3 +1 reviewed p.S268I 0.003 19 0% 34 29.4% - - unknown(0) - - NULL MYO15A 51168 genome.wustl.edu 37 17 18044100 18044100 + Splice_Site SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016239.3 +1 reviewed e20-1 1.000 69 0% 100 47% - - - - - - MYO15A 51168 genome.wustl.edu 37 17 18045058 18045058 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016239.3 +1 reviewed p.N1875D 0.977 49 0% 104 30.8% - - benign(0) - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO15A 51168 genome.wustl.edu 37 17 18047226 18047226 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016239.3 +1 reviewed p.T2030I 0.993 47 0% 101 31.7% - - benign(0.094) - - NULL MYO15A 51168 genome.wustl.edu 37 17 18051502 18051502 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016239.3 +1 reviewed p.A2223 0.107 20 0% 35 54.3% - - - - - NULL LLGL1 3996 genome.wustl.edu 37 17 18141888 18141888 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004140.3 +1 reviewed p.R724H 1.000 25 0% 53 32.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SMCR8 140775 genome.wustl.edu 37 17 18220546 18220546 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144775.2 +1 validated p.T481 0.000 62 0% 86 44.2% - - - - - NULL TBC1D28 254272 genome.wustl.edu 37 17 18541202 18541202 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001039397.2 -1 validated p.M158V 0.004 254 0% 363 28.9% - - benign(0.202) tolerated(0.09) neutral(0.316) superfamily_RabGAP_TBC ALDH3A1 218 genome.wustl.edu 37 17 19646675 19646675 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000691.4 -1 reviewed p.E88D 1.000 41 0% 103 40.8% - - benign(0.245) tolerated(0.5) neutral(0.035) HMMPfam_Aldedh,superfamily_ALDH-like SPECC1 92521 genome.wustl.edu 37 17 20130849 20130849 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001033553.1 +1 validated p.E663* 1.000 73 0% 45 31.1% - - - - - NULL CCDC144C 348254 genome.wustl.edu 37 17 20254668 20254668 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000444742 +1 known p.E616D 0.014 308 0% 143 36.4% - - - - - NULL USP22 23326 genome.wustl.edu 37 17 20911242 20911242 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015276.1 -1 validated p.E391K 1.000 114 0% 173 38.7% - - probably_damaging(0.973) deleterious(0) deleterious(0.859) HMMPfam_UCH,superfamily_Cysteine proteinases USP22 23326 genome.wustl.edu 37 17 20919075 20919075 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015276.1 -1 validated p.R276 1.000 36 0% 56 33.9% - - - - - HMMPfam_UCH,superfamily_Cysteine proteinases USP22 23326 genome.wustl.edu 37 17 20921347 20921347 + Missense_Mutation SNP G G T rs12602576 byHapMap TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015276.1 -1 validated p.L200M 1.000 77 0% 66 37.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UCH,superfamily_Cysteine proteinases USP22 23326 genome.wustl.edu 37 17 20921417 20921417 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015276.1 -1 validated p.R176 0.284 75 0% 75 38.7% - - - - - HMMPfam_UCH,superfamily_Cysteine proteinases DHRS7B 25979 genome.wustl.edu 37 17 21081638 21081638 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015510.3 +1 validated p.A98T 0.117 75 0% 68 22.1% - - benign(0.001) tolerated(0.54) neutral(0.007) HMMPfam_adh_short,superfamily_NAD(P)-bd FAM27L 284123 genome.wustl.edu 37 17 21825524 21825524 + Silent SNP C C T rs184672012 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000315762 +1 known p.S8 0.014 21 0% 42 47.6% - - - - - NULL FAM27L 284123 genome.wustl.edu 37 17 21826215 21826215 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000315762 +1 known p.R65K 0.003 45 0% 65 40% - - benign(0.178) - - NULL WSB1 26118 genome.wustl.edu 37 17 25636259 25636259 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015626.8 +1 reviewed p.I282T 1.000 108 0% 49 26.5% - - benign(0.01) deleterious(0) neutral(0.445) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 WSB1 26118 genome.wustl.edu 37 17 25639342 25639342 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015626.8 +1 reviewed p.Q405* 0.999 125 0% 38 18.4% - - - - - HMMPfam_SOCS_box,HMMSmart_SM00253 LOC440419 440419 genome.wustl.edu 37 17 25752552 25752552 + RNA SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XR_040504.2 +1 model NULL 0.045 88 0% 88 33% - - - - - - NOS2 4843 genome.wustl.edu 37 17 26101401 26101401 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000625.4 -1 reviewed p.S453Y 0.882 101 0% 125 36% - - benign(0.219) deleterious(0.01) neutral(0.427) HMMPfam_NO_synthase,superfamily_Nitric oxide (NO) synthase oxygenase domain NOS2 4843 genome.wustl.edu 37 17 26114853 26114853 + Splice_Site SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000625.4 -1 reviewed e4-1 1.000 107 0% 120 27.5% - - - - - - NLK 51701 genome.wustl.edu 37 17 26370089 26370089 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016231.4 +1 validated p.V64I 0.990 147 0% 174 42% - - benign(0.017) deleterious(0) neutral(0.445) NULL SLC46A1 113235 genome.wustl.edu 37 17 26727727 26727727 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_080669.3 -1 reviewed p.G408C 0.998 54 0% 83 12% - - probably_damaging(0.999) tolerated(0.1) deleterious(0.777) superfamily_MFS general substrate transporter FOXN1 8456 genome.wustl.edu 37 17 26864394 26864394 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003593.2 +1 reviewed p.T629 0.100 16 0% 21 23.8% - - - - - NULL ALDOC 230 genome.wustl.edu 37 17 26900841 26900841 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005165.2 -1 reviewed p.R304H 1.000 67 0% 104 38.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glycolytic,superfamily_Aldolase SPAG5 10615 genome.wustl.edu 37 17 26913461 26913461 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006461.3 -1 reviewed p.Q498 0.563 179 0% 133 36.8% - - - - - NULL KIAA0100 9703 genome.wustl.edu 37 17 26948021 26948021 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014680.2 -1 validated p.L1743I 1.000 198 0% 100 29% - - probably_damaging(0.99) tolerated(0.33) neutral(0.466) HMMPfam_Apt1 SUPT6H 6830 genome.wustl.edu 37 17 27015176 27015176 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003170.3 +1 validated p.P1025L 1.000 22 0% 31 48.4% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL PHF12 57649 genome.wustl.edu 37 17 27237197 27237197 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000378879 -1 known p.Y802 0.000 79 0% 89 28.1% - - - - - NULL PHF12 57649 genome.wustl.edu 37 17 27237240 27237240 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000378879 -1 known p.A788V 0.479 77 0% 107 36.4% - - benign(0.007) deleterious(0) neutral(0.445) NULL PIPOX 51268 genome.wustl.edu 37 17 27382862 27382862 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016518.2 +1 validated p.R333H 0.377 123 0% 130 28.5% - - benign(0.053) tolerated(0.61) neutral(0.007) HMMPfam_DAO,superfamily_FAD/NAD(P)-binding domain MYO18A 399687 genome.wustl.edu 37 17 27424909 27424909 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_078471.3 -1 validated p.Y1333 0.018 82 1.2% 135 43.7% - - - - - NULL ANKRD13B 124930 genome.wustl.edu 37 17 27934859 27934859 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152345.4 +1 validated p.A72T 1.000 9 0.000 23 0.348 - - possibly_damaging(0.884) tolerated(0.06) deleterious(0.667) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat EFCAB5 374786 genome.wustl.edu 37 17 28417528 28417528 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198529.3 +1 validated p.R1258I 0.520 104 0% 60 36.7% - - benign(0.091) tolerated(0.16) neutral(0.066) NULL NSRP1 84081 genome.wustl.edu 37 17 28445134 28445134 + Missense_Mutation SNP G G C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032141.2 +1 validated p.L19F 1.000 102 0% 79 31.6% - - probably_damaging(0.996) tolerated(0.18) deleterious(0.518) NULL CPD 1362 genome.wustl.edu 37 17 28749993 28749993 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001304.3 +1 reviewed p.E537* 1.000 147 0% 52 36.5% - - - - - HMMPfam_Peptidase_M14,HMMSmart_Zn_pept,superfamily_SSF53187 CPD 1362 genome.wustl.edu 37 17 28758863 28758863 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001304.3 +1 reviewed p.D697 0.998 214 0% 66 36.4% - - - - - HMMPfam_Peptidase_M14,HMMSmart_Zn_pept,superfamily_SSF53187 CPD 1362 genome.wustl.edu 37 17 28791819 28791819 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001304.3 +1 reviewed p.S1377Y 1.000 135 0% 49 10.2% - - possibly_damaging(0.902) deleterious(0) deleterious(0.801) NULL ENSG00000247185 0 genome.wustl.edu 37 17 29096093 29096093 + RNA SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000499895 +1 known NULL 0.069 45 0% 31 22.6% - - - - - - CRLF3 51379 genome.wustl.edu 37 17 29120567 29120567 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015986.3 -1 validated p.V243I 0.985 128 0% 113 31.9% - - benign(0.009) tolerated(0.17) neutral(0.059) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like NF1 4763 genome.wustl.edu 37 17 29422361 29422361 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001042492.2 +1 reviewed p.A12T 1.000 6 0.000 11 0.455 - - possibly_damaging(0.896) tolerated(0.33) neutral(0.378) NULL RAB11FIP4 84440 genome.wustl.edu 37 17 29855769 29855769 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032932.3 +1 validated p.L542 1.000 28 0% 46 39.1% - - - - - NULL UTP6 55813 genome.wustl.edu 37 17 30190454 30190454 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018428.2 -1 validated p.A573V 1.000 110 0% 155 40% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SUZ12 23512 genome.wustl.edu 37 17 30293190 30293190 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015355.2 +1 reviewed p.T160 0.998 99 0% 70 30% - - - - - NULL SUZ12 23512 genome.wustl.edu 37 17 30325795 30325795 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015355.2 +1 reviewed p.D665Y 1.000 67 0% 55 29.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_VEFS-Box LRRC37B 114659 genome.wustl.edu 37 17 30358476 30358476 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_052888.2 +1 validated p.L659V 0.002 130 0% 95 43.2% - - benign(0.081) deleterious(0.02) neutral(0.389) HMMSmart_SM00369,superfamily_L domain-like SPACA3 124912 genome.wustl.edu 37 17 31323985 31323985 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173847.3 +1 provisional p.P156 0.000 41 0% 37 45.9% - - - - - HMMPfam_Lys,HMMSmart_SM00263,superfamily_Lysozyme-like ENSG00000226049 0 genome.wustl.edu 37 17 32364752 32364752 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000430493 -1 known p.A656V 1.000 126 0% 135 35.6% - - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ENSG00000226049 0 genome.wustl.edu 37 17 32365108 32365108 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000430493 -1 known p.S537 1.000 366 0.3% 412 38.3% - - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ENSG00000226049 0 genome.wustl.edu 37 17 32365518 32365518 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000430493 -1 known p.D401Y 1.000 304 0.3% 418 39.2% - - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase CCL13 6357 genome.wustl.edu 37 17 32683555 32683555 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005408.2 +1 reviewed p.S4A 0.261 211 0% 125 31.2% - - possibly_damaging(0.664) tolerated(0.22) neutral(0.277) NULL RFFL 117584 genome.wustl.edu 37 17 33348660 33348660 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001017368.1 -1 validated p.K107 1.000 112 0% 83 33.7% - - - - - superfamily_FYVE/PHD zinc finger RAD51D 5892 genome.wustl.edu 37 17 33444045 33444045 + Missense_Mutation SNP C C T rs141188943 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000357906 -1 known p.R92H 0.000 55 0% 106 46.2% - - unknown(0) - - NULL UNC45B 146862 genome.wustl.edu 37 17 33477072 33477072 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173167.2 +1 validated p.D71N 1.000 81 0% 112 42.9% - - benign(0.409) deleterious(0.02) deleterious(0.515) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like SLFN12 55106 genome.wustl.edu 37 17 33749122 33749122 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018042.3 -1 validated p.R309H 0.046 131 0% 75 30.7% - - probably_damaging(0.979) tolerated(0.09) deleterious(0.718) HMMPfam_AAA_4 SLFN12L 100506736 genome.wustl.edu 37 17 33802344 33802344 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001145027.1 -1 validated p.E484D 0.003 173 0% 90 44.4% - - possibly_damaging(0.892) tolerated(0.09) deleterious(0.648) NULL SLFN12L 100506736 genome.wustl.edu 37 17 33807204 33807204 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001145027.1 -1 validated p.L38M 0.018 72 0% 47 31.9% - - possibly_damaging(0.951) tolerated(0.17) neutral(0.453) NULL GAS2L2 246176 genome.wustl.edu 37 17 34072080 34072080 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_139285.2 -1 validated p.K812N 0.001 43 0% 88 42% - - unknown(0) tolerated(0.05) - NULL MYO19 80179 genome.wustl.edu 37 17 34852167 34852167 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025109.5 -1 validated p.G747 1.000 117 0% 114 36% - - - - - NULL MYO19 80179 genome.wustl.edu 37 17 34854314 34854314 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025109.5 -1 validated p.P651 0.000 79 0% 104 43.3% - - - - - NULL MYO19 80179 genome.wustl.edu 37 17 34856750 34856750 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025109.5 -1 validated p.R566H 1.000 26 0% 26 46.2% - - probably_damaging(0.971) tolerated(0.42) neutral(0.427) superfamily_SSF52540 MYO19 80179 genome.wustl.edu 37 17 34856771 34856771 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025109.5 -1 validated p.R559Q 0.917 25 0% 31 19.4% - - benign(0) tolerated(0.72) neutral(0.002) HMMSmart_MYSc,superfamily_SSF52540 MYO19 80179 genome.wustl.edu 37 17 34857026 34857026 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025109.5 -1 validated p.D510 1.000 45 0% 50 30% - - - - - HMMSmart_MYSc,superfamily_SSF52540 PIGW 284098 genome.wustl.edu 37 17 34894113 34894113 + Nonsense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178517.3 +1 validated p.L388* 0.016 149 0% 230 38.7% - - - - - HMMPfam_GWT1 LHX1 3975 genome.wustl.edu 37 17 35299554 35299554 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005568.2 +1 reviewed p.G245S 1.000 10 0% 23 26.1% - - benign(0.014) tolerated(0.05) neutral(0.346) NULL LHX1 3975 genome.wustl.edu 37 17 35300402 35300402 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005568.2 +1 reviewed p.E399K 1.000 4 0.000 14 0.357 - - possibly_damaging(0.818) deleterious(0.01) deleterious(0.715) NULL AATF 26574 genome.wustl.edu 37 17 35346649 35346649 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012138.3 +1 reviewed p.R418Q 0.976 99 0% 47 34% - - probably_damaging(0.991) deleterious(0.05) deleterious(0.789) NULL ACACA 31 genome.wustl.edu 37 17 35468469 35468469 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198834.1 -1 reviewed p.L2188V 1.000 123 0% 84 28.6% - - possibly_damaging(0.671) tolerated(0.07) deleterious(0.557) HMMPfam_Carboxyl_trans,superfamily_SSF52096 C17orf78 284099 genome.wustl.edu 37 17 35746297 35746297 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173625.3 +1 validated p.K250 1.000 87 0% 32 34.4% - - - - - NULL SYNRG 11276 genome.wustl.edu 37 17 35900600 35900600 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007247.4 -1 reviewed p.R1083H 0.997 72 0% 45 15.6% - - possibly_damaging(0.563) deleterious(0) deleterious(0.637) NULL HNF1B 6928 genome.wustl.edu 37 17 36099476 36099476 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000458.2 -1 reviewed p.A167T 1.000 136 0% 262 36.6% - - probably_damaging(0.977) deleterious(0.01) deleterious(0.825) HMMPfam_HNF-1_N,superfamily_lambda repressor-like DNA-binding domains ENSG00000174093 0 genome.wustl.edu 37 17 36352483 36352483 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000312412 -1 known p.A435V 1.000 235 0% 142 12% - - benign(0.11) tolerated(0.07) neutral(0.328) "HMMPfam_Peptidase_M1,superfamily_Metalloproteases (""zincins"") catalytic domain" GPR179 440435 genome.wustl.edu 37 17 36483775 36483775 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001004334.2 -1 validated p.D1893N 0.114 99 0% 130 34.6% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL GPR179 440435 genome.wustl.edu 37 17 36484461 36484461 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001004334.2 -1 validated p.R1664H 0.000 136 0% 183 35.5% - - benign(0) deleterious(0.03) neutral(0.364) NULL GPR179 440435 genome.wustl.edu 37 17 36486480 36486480 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001004334.2 -1 validated p.Y991C 0.154 95 0% 135 39.3% - - probably_damaging(0.984) deleterious(0) deleterious(0.875) NULL GPR179 440435 genome.wustl.edu 37 17 36499282 36499282 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001004334.2 -1 validated p.Q131* 1.000 42 0% 61 36.1% - - - - - NULL SRCIN1 80725 genome.wustl.edu 37 17 36719134 36719134 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025248.2 -1 validated p.I255V 1.000 54 0% 139 38.8% - - possibly_damaging(0.926) deleterious(0.02) deleterious(0.758) NULL PIP4K2B 8396 genome.wustl.edu 37 17 36925984 36925984 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003559.4 -1 reviewed p.S404F 1.000 154 0% 123 11.4% - - probably_damaging(0.98) deleterious(0) deleterious(0.869) HMMPfam_PIP5K,HMMSmart_SM00330,superfamily_SAICAR synthase-like PIP4K2B 8396 genome.wustl.edu 37 17 36927476 36927476 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003559.4 -1 reviewed p.H286P 0.998 210 0% 148 41.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PIP5K,HMMSmart_SM00330,superfamily_SAICAR synthase-like PIP4K2B 8396 genome.wustl.edu 37 17 36936744 36936744 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003559.4 -1 reviewed p.D156 0.993 72 0% 62 32.3% - - - - - HMMPfam_PIP5K,HMMSmart_SM00330,superfamily_SAICAR synthase-like C17orf98 388381 genome.wustl.edu 37 17 36997446 36997446 + Missense_Mutation SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080465.2 -1 validated p.K66I 0.040 42 0% 57 40.4% - - probably_damaging(0.986) deleterious(0.03) deleterious(0.799) NULL PGAP3 93210 genome.wustl.edu 37 17 37840897 37840897 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033419.3 -1 validated p.V129M 1.000 34 0% 51 29.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Per1 CASC3 22794 genome.wustl.edu 37 17 38325656 38325656 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007359.4 +1 reviewed p.R682Q 1.000 57 0% 50 34% - - unknown(0) deleterious(0) - NULL IGFBP4 3487 genome.wustl.edu 37 17 38610200 38610200 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001552.2 +1 reviewed p.S176 0.194 104 0% 155 12.3% - - - - - HMMPfam_Thyroglobulin_1,superfamily_Thyroglobulin_1 TNS4 84951 genome.wustl.edu 37 17 38634862 38634862 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032865.5 -1 validated p.R650H 0.980 92 0% 97 27.8% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_PTB,superfamily_SSF50729 TNS4 84951 genome.wustl.edu 37 17 38641229 38641229 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032865.5 -1 validated p.K440T 1.000 130 0% 153 37.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL KRT20 54474 genome.wustl.edu 37 17 39036970 39036970 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_019010.1 -1 reviewed p.L176M 1.000 186 0% 80 13.8% - - possibly_damaging(0.673) deleterious(0.03) deleterious(0.603) HMMPfam_Filament KRT23 25984 genome.wustl.edu 37 17 39079267 39079267 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015515.3 -1 reviewed p.V415M 1.000 208 0% 87 18.4% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL KRT23 25984 genome.wustl.edu 37 17 39081739 39081739 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015515.3 -1 reviewed p.E337* 1.000 252 0% 101 13.9% - - - - - HMMPfam_Filament KRT39 390792 genome.wustl.edu 37 17 39118685 39118685 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_213656.3 -1 reviewed p.R280H 1.000 262 0.4% 93 34.4% - - probably_damaging(0.999) tolerated(0.08) deleterious(0.790) HMMPfam_Filament KRT39 390792 genome.wustl.edu 37 17 39122653 39122653 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_213656.3 -1 reviewed p.E152 0.999 139 0% 76 40.8% - - - - - HMMPfam_Filament KRT40 125115 genome.wustl.edu 37 17 39139310 39139310 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182497.3 -1 reviewed p.D173G 1.000 125 0% 61 36.1% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Filament KRTAP4-9 100132386 genome.wustl.edu 37 17 39261794 39261794 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000391415 +1 known p.P52S 0.001 94 0% 90 27.8% - - unknown(0) deleterious(0.05) - HMMPfam_Keratin_B2 KRTAP9-3 83900 genome.wustl.edu 37 17 39389169 39389169 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031962.2 +1 reviewed p.C139Y 0.971 174 0.6% 172 9.9% - - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_Keratin_B2 KRT33A 3883 genome.wustl.edu 37 17 39503420 39503420 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004138.2 -1 reviewed p.A215T 1.000 104 0% 155 36.8% - - benign(0.035) tolerated(0.09) neutral(0.298) HMMPfam_Filament KRT34 3885 genome.wustl.edu 37 17 39535425 39535425 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021013.3 -1 reviewed p.D336Y 0.955 117 0% 146 39.7% - - benign(0.002) deleterious(0.02) neutral(0.383) HMMPfam_Filament KRT34 3885 genome.wustl.edu 37 17 39538488 39538488 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021013.3 -1 reviewed p.S46N 0.039 65 0% 115 29.6% - - benign(0) tolerated(0.3) neutral(0.029) NULL KRT31 3881 genome.wustl.edu 37 17 39552779 39552779 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002277.2 -1 reviewed p.G161S 0.002 82 0% 84 42.9% - - benign(0.043) deleterious(0.05) neutral(0.348) HMMPfam_Filament KRT38 8687 genome.wustl.edu 37 17 39596454 39596454 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006771.3 -1 reviewed p.Q178H 0.000 165 0.6% 124 41.1% - - probably_damaging(0.998) tolerated(0.07) deleterious(0.793) HMMPfam_Filament KRT32 3882 genome.wustl.edu 37 17 39622125 39622125 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002278.3 -1 reviewed p.R203H 0.980 99 0% 81 29.6% - - possibly_damaging(0.478) tolerated(0.08) neutral(0.458) HMMPfam_Filament KRT19 3880 genome.wustl.edu 37 17 39680701 39680701 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002276.4 -1 reviewed p.D251G 0.998 46 0% 95 33.7% - - possibly_damaging(0.753) deleterious(0.01) deleterious(0.682) superfamily_Prefoldin,HMMPfam_Filament KRT14 3861 genome.wustl.edu 37 17 39741227 39741227 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000526.4 -1 reviewed p.K203T 1.000 82 0% 131 34.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Filament HAP1 9001 genome.wustl.edu 37 17 39881320 39881320 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_177977.2 -1 reviewed p.R498Q 0.000 84 0% 136 34.6% - - possibly_damaging(0.906) tolerated(0.34) neutral(0.383) NULL JUP 3728 genome.wustl.edu 37 17 39921270 39921270 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002230.2 -1 reviewed p.R320H 1.000 112 0% 170 38.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_ARM,superfamily_ARM-type_fold KLHL11 55175 genome.wustl.edu 37 17 40010739 40010739 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018143.1 -1 provisional p.G460 0.836 109 0% 62 45.2% - - - - - HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central ACLY 47 genome.wustl.edu 37 17 40061802 40061802 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001096.2 -1 reviewed p.L326I 1.000 190 0% 218 12.8% - - possibly_damaging(0.905) deleterious(0.01) deleterious(0.765) superfamily_CoA_ligase ACLY 47 genome.wustl.edu 37 17 40065905 40065905 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001096.2 -1 reviewed p.V132I 0.968 125 0% 159 32.1% - - benign(0) tolerated(1) - superfamily_SSF56059 KAT2A 2648 genome.wustl.edu 37 17 40266994 40266994 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021078.2 -1 validated p.Y645 0.819 94 0% 226 41.2% - - - - - superfamily_Acyl-CoA N-acyltransferases (Nat) STAT5A 6776 genome.wustl.edu 37 17 40453292 40453292 + Splice_Site SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003152.3 +1 reviewed e8-1 1.000 111 0% 165 36.4% - - - - - - HSD17B1 3292 genome.wustl.edu 37 17 40705242 40705242 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000413.2 +1 validated p.D66 0.970 13 0% 34 23.5% - - - - - HMMPfam_adh_short,superfamily_NAD(P)-binding Rossmann-fold domains TUBG2 27175 genome.wustl.edu 37 17 40817774 40817774 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016437.2 +1 validated p.A258T 1.000 223 0% 350 43.7% - - probably_damaging(0.989) deleterious(0.04) deleterious(0.788) superfamily_Tub_FtsZ_C,HMMPfam_Tubulin_C PLEKHH3 79990 genome.wustl.edu 37 17 40821953 40821953 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024927.4 -1 validated p.V666I 1.000 32 0% 71 38% - - possibly_damaging(0.444) deleterious(0.02) deleterious(0.528) NULL CCR10 2826 genome.wustl.edu 37 17 40832398 40832398 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016602.2 -1 validated p.D88N 1.000 16 0% 23 39.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 AOC2 314 genome.wustl.edu 37 17 41001166 41001166 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_009590.2 +1 reviewed p.P551L 0.997 51 0% 90 32.2% - - probably_damaging(0.999) tolerated(0.07) deleterious(0.809) HMMPfam_Cu_amine_oxid,superfamily_Amine oxidase catalytic domain AOC3 8639 genome.wustl.edu 37 17 41006590 41006590 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003734.2 +1 reviewed p.A576T 0.994 23 0% 32 40.6% - - benign(0.15) tolerated(0.12) neutral(0.274) HMMPfam_Cu_amine_oxid,superfamily_CuNH_oxidase LOC100288228 100288228 genome.wustl.edu 37 17 41020861 41020861 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002343520.1 -1 model p.A59T 0.357 26 0% 42 26.2% - - - - - NULL AARSD1 80755 genome.wustl.edu 37 17 41122314 41122314 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001136042.2 -1 validated p.D185Y 1.000 215 0% 252 31% - - probably_damaging(0.986) deleterious(0.01) deleterious(0.840) NULL NAGS 162417 genome.wustl.edu 37 17 42083445 42083445 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153006.2 +1 reviewed p.S252L 1.000 7 0.000 14 0.643 - - probably_damaging(0.974) deleterious(0.01) deleterious(0.822) superfamily_Aa_kinase TMEM101 84336 genome.wustl.edu 37 17 42090429 42090429 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032376.2 -1 provisional p.R138H 1.000 16 0% 29 41.4% - - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL ATXN7L3 56970 genome.wustl.edu 37 17 42274714 42274714 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020218.1 -1 validated p.K80Q 1.000 38 0% 111 46.8% - - probably_damaging(1) tolerated(0.1) deleterious(0.786) NULL GRN 2896 genome.wustl.edu 37 17 42428809 42428809 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002087.2 +1 reviewed p.G305D 1.000 50 0% 99 34.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Granulin,HMMSmart_SM00277,superfamily_Granulin repeat ITGA2B 3674 genome.wustl.edu 37 17 42455070 42455070 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000419.3 -1 reviewed p.A728V 0.002 64 0% 114 40.4% - - benign(0.114) deleterious(0.01) neutral(0.415) HMMPfam_Integrin_alpha2,superfamily_Integrin domains GPATCH8 23131 genome.wustl.edu 37 17 42478354 42478354 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001002909.1 -1 validated p.P364H 0.592 82 0% 101 14.9% - - unknown(0) deleterious(0) - NULL CCDC43 124808 genome.wustl.edu 37 17 42756273 42756273 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144609.2 -1 validated p.R209H 1.000 221 0% 109 39.4% - - unknown(0) deleterious(0.01) - NULL GFAP 2670 genome.wustl.edu 37 17 42987858 42987858 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000376990 -1 known p.F432 0.000 50 0% 99 38.4% - - - - - NULL GFAP 2670 genome.wustl.edu 37 17 42990667 42990667 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002055.3 -1 reviewed p.M250I 1.000 56 0% 100 41% - - probably_damaging(0.977) tolerated(0.71) neutral(0.420) HMMPfam_Filament KIF18B 146909 genome.wustl.edu 37 17 43003782 43003782 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080443.1 -1 provisional p.E821K 1.000 99 0% 165 32.1% - - unknown(0) - - NULL HEXIM1 10614 genome.wustl.edu 37 17 43227438 43227438 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006460.2 +1 reviewed p.L294P 1.000 28 0% 44 45.5% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL FMNL1 752 genome.wustl.edu 37 17 43311014 43311014 + Splice_Site SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005892.3 +1 reviewed e5-1 1.000 67 0% 166 26.5% - - - - - - FMNL1 752 genome.wustl.edu 37 17 43323034 43323034 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005892.3 +1 reviewed p.E976D 1.000 59 0% 134 39.6% - - unknown(0) tolerated(0.16) - HMMSmart_SM00498,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain) MAP3K14 9020 genome.wustl.edu 37 17 43351887 43351887 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000344686 -1 known p.L454S 0.998 92 0% 124 37.9% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PLEKHM1 9842 genome.wustl.edu 37 17 43535636 43535636 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014798.2 -1 reviewed p.A493V 0.021 54 0% 59 37.3% - - probably_damaging(0.954) deleterious(0.04) deleterious(0.746) NULL LOC100288229 100288229 genome.wustl.edu 37 17 43626447 43626447 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002343565.1 -1 model p.L419F 0.000 64 0% 44 9.1% - - - - - NULL STH 246744 genome.wustl.edu 37 17 44077018 44077018 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001007532.2 +1 validated p.S125A 0.000 26 3.8% 37 35.1% - - benign(0.003) deleterious(0) neutral(0.445) NULL KANSL1 284058 genome.wustl.edu 37 17 44248614 44248614 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015443.2 -1 validated p.R299H 1.000 112 0% 76 14.5% - - probably_damaging(1) tolerated(0.14) deleterious(0.750) NULL KANSL1 284058 genome.wustl.edu 37 17 44249056 44249056 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015443.2 -1 validated p.A152S 1.000 110 0% 50 14% - - possibly_damaging(0.9) deleterious(0.03) deleterious(0.721) NULL LOC644253 644253 genome.wustl.edu 37 17 44322077 44322077 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_001719157.2 +1 model p.T312 0.994 45 0% 72 27.8% - - - - - HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like WNT3 7473 genome.wustl.edu 37 17 44846064 44846064 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030753.3 -1 reviewed p.I230 0.992 54 0% 87 40.2% - - - - - HMMPfam_wnt,HMMSmart_WNT1 OSBPL7 114881 genome.wustl.edu 37 17 45894656 45894656 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_145798.2 -1 reviewed p.R223Q 0.981 50 0% 117 33.3% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL HOXB13 10481 genome.wustl.edu 37 17 46804268 46804268 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006361.5 -1 reviewed p.R247C 1.000 76 0% 147 28.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like HOXB13 10481 genome.wustl.edu 37 17 46805825 46805825 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006361.5 -1 reviewed p.P44H 0.947 15 0% 17 29.4% - - probably_damaging(0.974) tolerated(0.19) neutral(0.465) NULL IGF2BP1 10642 genome.wustl.edu 37 17 47115763 47115763 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006546.3 +1 reviewed p.G212D 1.000 22 0% 24 41.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) PHB 5245 genome.wustl.edu 37 17 47482547 47482547 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002634.2 -1 reviewed p.A209V 1.000 9 0.000 23 0.870 - - benign(0.001) deleterious(0.04) neutral(0.349) NULL NGFR 4804 genome.wustl.edu 37 17 47589259 47589259 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002507.3 +1 reviewed p.N276S 1.000 34 0% 79 29.1% - - probably_damaging(1) tolerated(0.14) deleterious(0.750) NULL NXPH3 11248 genome.wustl.edu 37 17 47656197 47656197 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007225.2 +1 validated p.K98N 1.000 38 2.6% 79 32.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Neurexophilin SPOP 8405 genome.wustl.edu 37 17 47700132 47700132 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001007226.1 -1 reviewed p.S14L 1.000 98 0% 72 31.9% - - benign(0.079) deleterious(0) neutral(0.450) NULL ITGA3 3675 genome.wustl.edu 37 17 48152836 48152836 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005501.2 +1 reviewed p.L495M 1.000 81 0% 169 14.8% - - probably_damaging(0.96) tolerated(0.08) deleterious(0.703) HMMPfam_Integrin_alpha2,superfamily_Integrin domains COL1A1 1277 genome.wustl.edu 37 17 48266152 48266152 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000088.3 -1 reviewed p.A1017V 0.991 75 0% 153 11.8% - - unknown(0) tolerated(0.11) - HMMPfam_Collagen XYLT2 64132 genome.wustl.edu 37 17 48434012 48434012 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022167.2 +1 reviewed p.Y541 0.681 37 0% 72 37.5% - - - - - NULL CHAD 1101 genome.wustl.edu 37 17 48543159 48543159 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001267.2 -1 reviewed p.L283 0.997 162 0% 226 36.3% - - - - - HMMSmart_SM00369,superfamily_L domain-like MYCBPAP 84073 genome.wustl.edu 37 17 48599412 48599412 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000437498 +1 known p.A427V 0.984 67 0% 97 42.3% - - - - - NULL CACNA1G 8913 genome.wustl.edu 37 17 48693729 48693729 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018896.3 +1 validated p.R1669W 0.918 191 0% 319 39.5% - - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels ABCC3 8714 genome.wustl.edu 37 17 48761338 48761338 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003786.3 +1 reviewed p.G1328D 1.000 34 0% 55 36.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ANKRD40 91369 genome.wustl.edu 37 17 48773491 48773491 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_052855.3 -1 validated p.A325V 1.000 123 0% 80 40% - - benign(0.382) tolerated(0.14) neutral(0.371) NULL COX11 1353 genome.wustl.edu 37 17 53045893 53045893 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004375.3 -1 reviewed p.E39* 0.000 11 0% 14 42.9% - - - - - NULL STXBP4 252983 genome.wustl.edu 37 17 53155527 53155527 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178509.5 +1 validated p.S426F 1.000 84 0% 28 39.3% - - possibly_damaging(0.492) deleterious(0) deleterious(0.609) NULL MMD 23531 genome.wustl.edu 37 17 53478885 53478885 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012329.2 -1 reviewed p.E154A 1.000 115 0% 75 29.3% - - possibly_damaging(0.551) deleterious(0) deleterious(0.632) HMMPfam_HlyIII AKAP1 8165 genome.wustl.edu 37 17 55183105 55183105 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003488.3 +1 reviewed p.A94T 0.172 64 0% 86 38.4% - - probably_damaging(1) tolerated(0.25) deleterious(0.537) NULL OR4D1 26689 genome.wustl.edu 37 17 56232571 56232571 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012374.1 +1 provisional p.Q19H 0.001 85 0% 126 37.3% - - benign(0.005) tolerated(0.06) neutral(0.323) superfamily_SSF81321 EPX 8288 genome.wustl.edu 37 17 56271112 56271112 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000502.4 +1 reviewed p.Q128 0.986 19 0% 25 24% - - - - - NULL EPX 8288 genome.wustl.edu 37 17 56271379 56271379 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000502.4 +1 reviewed p.E174K 0.585 18 0% 21 38.1% - - benign(0.147) tolerated(0.12) neutral(0.274) HMMPfam_An_peroxidase,superfamily_Peroxidase_super BZRAP1 9256 genome.wustl.edu 37 17 56393433 56393433 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004758.2 -1 validated p.G683 1.000 140 0% 245 38.8% - - - - - HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_SH3_2 HSF5 124535 genome.wustl.edu 37 17 56565368 56565368 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080439.1 -1 provisional p.R90C 1.000 21 0% 51 31.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) "HMMPfam_HSF_DNA-bind,HMMSmart_SM00415,superfamily_""Winged helix"" DNA-binding domain" MTMR4 9110 genome.wustl.edu 37 17 56581491 56581491 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004687.4 -1 validated p.R526W 1.000 63 0% 53 37.7% - - probably_damaging(0.986) deleterious(0) deleterious(0.879) superfamily_(Phosphotyrosine protein) phosphatases II C17orf47 284083 genome.wustl.edu 37 17 56620976 56620976 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001038704.1 -1 predicted p.R191H 0.918 167 0% 84 28.6% - - probably_damaging(0.984) - - NULL TEX14 56155 genome.wustl.edu 37 17 56646569 56646569 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198393.2 -1 reviewed p.E1330D 0.391 200 0% 92 35.9% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL TEX14 56155 genome.wustl.edu 37 17 56659084 56659084 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198393.2 -1 reviewed p.S1060Y 0.010 191 0% 76 28.9% - - probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL TEX14 56155 genome.wustl.edu 37 17 56682443 56682443 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198393.2 -1 reviewed p.T411M 0.000 189 0% 125 33.6% - - possibly_damaging(0.771) deleterious(0.05) deleterious(0.632) HMMPfam_Pkinase_Tyr,superfamily_Kinase_like SMG8 55181 genome.wustl.edu 37 17 57288544 57288544 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018149.6 +1 validated p.R378* 1.000 82 0% 80 35% - - - - - HMMPfam_DUF2146 CLTC 1213 genome.wustl.edu 37 17 57758332 57758332 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004859.3 +1 reviewed p.K993 1.000 148 0% 32 18.8% - - - - - HMMPfam_Clathrin,HMMSmart_SM00299,superfamily_ARM repeat MIR21 406991 genome.wustl.edu 37 17 57918630 57918630 + RNA SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000362134 +1 known NULL 1.000 121 0% 68 38.2% - - - - - - HEATR6 63897 genome.wustl.edu 37 17 58134499 58134499 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022070.4 -1 validated p.L663 0.997 65 0% 26 34.6% - - - - - superfamily_ARM-type_fold CA4 762 genome.wustl.edu 37 17 58234905 58234905 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000717.3 +1 reviewed p.S129I 0.243 77 0% 103 44.7% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Carb_anhydrase,superfamily_Carbonic anhydrase,PatternScan_ALPHA_CA_1 USP32 84669 genome.wustl.edu 37 17 58275675 58275675 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032582.3 -1 validated p.S1127F 1.000 208 0% 103 39.8% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_UCH,superfamily_SSF54001 APPBP2 10513 genome.wustl.edu 37 17 58556624 58556624 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006380.2 -1 reviewed p.L130I 1.000 65 0% 32 31.2% - - probably_damaging(0.992) tolerated(0.09) deleterious(0.744) superfamily_TPR-like PPM1D 8493 genome.wustl.edu 37 17 58740370 58740370 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003620.2 +1 reviewed p.D425 0.967 109 0% 60 25% - - - - - NULL PPM1D 8493 genome.wustl.edu 37 17 58740814 58740814 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003620.2 +1 reviewed p.K573 1.000 94 0% 50 38% - - - - - NULL TBX2 6909 genome.wustl.edu 37 17 59485480 59485480 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005994.3 +1 validated p.A584 0.701 21 0% 36 33.3% - - - - - NULL BRIP1 83990 genome.wustl.edu 37 17 59857697 59857697 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032043.1 -1 reviewed p.M620I 1.000 101 0% 50 34% - - possibly_damaging(0.825) tolerated(0.08) deleterious(0.613) NULL BRIP1 83990 genome.wustl.edu 37 17 59858343 59858343 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032043.1 -1 reviewed p.A551V 1.000 129 0% 103 37.9% - - probably_damaging(0.999) tolerated(0.49) deleterious(0.501) NULL LOC100289325 100289325 genome.wustl.edu 37 17 60005137 60005137 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002343535.1 +1 model p.T40 0.003 31 0% 49 22.4% - - - - - NULL MED13 9969 genome.wustl.edu 37 17 60111236 60111236 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005121.2 -1 reviewed p.I242 0.997 257 0% 124 39.5% - - - - - NULL ENSG00000188755 0 genome.wustl.edu 37 17 60344512 60344512 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000339120 -1 known p.S303 0.859 139 0% 174 34.5% - - - - - HMMPfam_TBC,HMMSmart_TBC EFCAB3 146779 genome.wustl.edu 37 17 60493568 60493568 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001144933.1 +1 validated p.A451T 0.799 138 0% 58 43.1% - - benign(0.002) deleterious(0) neutral(0.445) NULL MRC2 9902 genome.wustl.edu 37 17 60744839 60744839 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006039.3 +1 validated p.A354 0.041 11 0% 21 42.9% - - - - - HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like,PatternScan_C_TYPE_LECTIN_1 MARCH10 162333 genome.wustl.edu 37 17 60813461 60813461 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001100875.1 -1 validated p.H590Y 0.005 69 0% 40 32.5% - - benign(0) tolerated(0.63) neutral(0.004) NULL MARCH10 162333 genome.wustl.edu 37 17 60865954 60865954 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001100875.1 -1 validated p.L33M 1.000 171 0% 229 34.9% - - probably_damaging(0.977) deleterious(0) deleterious(0.863) NULL TANC2 26115 genome.wustl.edu 37 17 61466954 61466954 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000434668 +1 known p.R960* 0.000 24 0.000 8 0.500 - - - - - superfamily_ANK CYB561 1534 genome.wustl.edu 37 17 61512533 61512533 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001017916.1 -1 validated p.Q159H 1.000 37 0% 62 29% - - benign(0.002) tolerated(0.05) neutral(0.345) HMMPfam_Cytochrom_B561,HMMSmart_SM00665 LOC342541 342541 genome.wustl.edu 37 17 61549016 61549016 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_292596.4 +1 model p.V23I 0.989 53 0% 44 27.3% - - - - - HMMPfam_Pro_isomerase,superfamily_Cyclophilin-like ACE 1636 genome.wustl.edu 37 17 61566369 61566369 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000789.2 +1 reviewed p.E839D 0.997 61 0% 137 28.5% - - possibly_damaging(0.838) tolerated(0.37) neutral(0.339) "HMMPfam_Peptidase_M2,superfamily_Metalloproteases (""zincins"") catalytic domain" KCNH6 81033 genome.wustl.edu 37 17 61615609 61615609 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030779.2 +1 reviewed p.G562D 1.000 49 0% 95 13.7% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_cAMP-binding domain-like DDX42 11325 genome.wustl.edu 37 17 61888507 61888507 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007372.2 +1 reviewed p.R458* 1.000 110 0% 57 29.8% - - - - - HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases GH1 2688 genome.wustl.edu 37 17 61995761 61995761 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000515.3 -1 reviewed p.A39V 0.993 190 0% 199 34.7% - - benign(0.355) deleterious(0.02) deleterious(0.495) HMMPfam_Hormone_1,superfamily_4-helical cytokines SCN4A 6329 genome.wustl.edu 37 17 62034738 62034738 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000334.4 -1 reviewed p.Q720 1.000 135 0% 215 47% - - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN4A 6329 genome.wustl.edu 37 17 62045541 62045541 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000334.4 -1 reviewed p.T293M 0.547 182 0% 266 39.1% - - possibly_damaging(0.898) deleterious(0.01) deleterious(0.760) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN4A 6329 genome.wustl.edu 37 17 62049748 62049748 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000334.4 -1 reviewed p.V119A 0.055 106 0.9% 195 32.3% - - benign(0.002) tolerated(0.1) neutral(0.286) superfamily_Voltage-gated potassium channels ICAM2 3384 genome.wustl.edu 37 17 62081149 62081149 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000873.3 -1 reviewed p.P168 0.000 62 0% 74 44.6% - - - - - superfamily_Immunoglobulin CEP95 90799 genome.wustl.edu 37 17 62529282 62529282 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138363.1 +1 provisional p.K630N 1.000 148 0% 55 36.4% - - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL LOC146880 146880 genome.wustl.edu 37 17 62745985 62745985 + RNA SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NR_026899.1 -1 validated NULL 1.000 47 0% 34 38.2% - - - - - - ENSG00000215769 0 genome.wustl.edu 37 17 62750261 62750261 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000400873 -1 known p.L157M 1.000 150 0% 92 14.1% - - unknown(0) tolerated(0.19) - NULL GNA13 10672 genome.wustl.edu 37 17 63010389 63010389 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006572.4 -1 validated p.L374I 1.000 107 0% 48 29.2% - - probably_damaging(0.996) tolerated(0.37) deleterious(0.481) HMMPfam_G-alpha,HMMSmart_SM00275 HELZ 9931 genome.wustl.edu 37 17 65104694 65104694 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014877.3 -1 validated p.P1546 0.254 270 0% 120 25% - - - - - NULL HELZ 9931 genome.wustl.edu 37 17 65147221 65147221 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014877.3 -1 validated p.R766Q 1.000 140 0% 44 34.1% - - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) superfamily_SSF52540 PITPNC1 26207 genome.wustl.edu 37 17 65628318 65628318 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012417.2 +1 reviewed p.C142 0.877 178 0% 148 31.8% - - - - - HMMPfam_IP_trans,superfamily_Bet v1-like PITPNC1 26207 genome.wustl.edu 37 17 65688720 65688720 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012417.2 +1 reviewed p.R239* 1.000 129 0% 88 29.5% - - - - - HMMPfam_IP_trans,superfamily_Bet v1-like NOL11 25926 genome.wustl.edu 37 17 65722731 65722731 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015462.3 +1 provisional p.A274T 0.989 100 0% 68 25% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL BPTF 2186 genome.wustl.edu 37 17 65916139 65916139 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182641.3 +1 reviewed p.E1813K 1.000 201 0% 112 32.1% - - possibly_damaging(0.801) deleterious(0.01) deleterious(0.707) NULL BPTF 2186 genome.wustl.edu 37 17 65925499 65925499 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182641.3 +1 reviewed p.T2016A 0.923 225 0% 159 33.3% - - benign(0.137) tolerated(0.75) neutral(0.013) NULL ARSG 22901 genome.wustl.edu 37 17 66416527 66416527 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014960.3 +1 validated p.A501T 0.836 86 0% 55 43.6% - - possibly_damaging(0.936) tolerated(0.18) neutral(0.438) superfamily_Alkaline_phosphatase_core WIPI1 55062 genome.wustl.edu 37 17 66440641 66440641 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017983.5 -1 validated p.N141K 1.000 234 0% 150 37.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_WD40 repeat-like FAM20A 54757 genome.wustl.edu 37 17 66536067 66536067 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017565.3 -1 validated p.F420 0.976 131 0% 61 36.1% - - - - - HMMPfam_DUF1193 ABCA8 10351 genome.wustl.edu 37 17 66928495 66928495 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007168.2 -1 reviewed p.V244A 0.164 177 0% 53 34% - - possibly_damaging(0.681) deleterious(0.04) deleterious(0.592) NULL ABCA8 10351 genome.wustl.edu 37 17 66933095 66933095 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007168.2 -1 reviewed p.T155A 0.007 143 0% 47 40.4% - - benign(0) tolerated(0.75) neutral(0.002) NULL ABCA5 23461 genome.wustl.edu 37 17 67310465 67310465 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018672.3 -1 reviewed p.S31I 1.000 129 0% 37 29.7% - - possibly_damaging(0.901) deleterious(0) deleterious(0.801) NULL MAP2K6 5608 genome.wustl.edu 37 17 67515461 67515461 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002758.3 +1 reviewed p.R85Q 1.000 127 0% 45 44.4% - - probably_damaging(0.994) deleterious(0.03) deleterious(0.817) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase KCNJ2 3759 genome.wustl.edu 37 17 68171419 68171419 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000891.2 +1 reviewed p.R80H 1.000 85 0% 72 37.5% - - possibly_damaging(0.637) deleterious(0) deleterious(0.667) HMMPfam_IRK,superfamily_Voltage-gated potassium channels KCNJ2 3759 genome.wustl.edu 37 17 68172103 68172103 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000891.2 +1 reviewed p.T308M 1.000 83 0% 49 38.8% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_IRK,superfamily_E set domains SOX9 6662 genome.wustl.edu 37 17 70118882 70118882 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000346.3 +1 reviewed p.R152W 1.000 18 0% 45 31.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HMG_box,HMMSmart_SM00398,superfamily_HMG-box SOX9 6662 genome.wustl.edu 37 17 70119856 70119856 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000346.3 +1 reviewed p.I286 0.988 22 0% 34 20.6% - - - - - NULL SDK2 54549 genome.wustl.edu 37 17 71357915 71357915 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001144952.1 -1 provisional p.A1792V 0.999 35 0% 94 37.2% - - benign(0.02) tolerated(0.42) neutral(0.015) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III SDK2 54549 genome.wustl.edu 37 17 71380057 71380057 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001144952.1 -1 provisional p.R1555* 0.381 80 0% 126 37.3% - - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III SDK2 54549 genome.wustl.edu 37 17 71427644 71427644 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001144952.1 -1 provisional p.W493R 0.998 43 0% 69 11.6% - - possibly_damaging(0.95) deleterious(0.04) deleterious(0.742) HMMSmart_SM00409 KIF19 124602 genome.wustl.edu 37 17 72339281 72339281 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153209.3 +1 validated p.V146 0.996 33 0% 67 16.4% - - - - - HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases GPRC5C 55890 genome.wustl.edu 37 17 72436495 72436495 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022036.2 +1 reviewed p.A239T 0.003 25 0% 66 33.3% - - benign(0) tolerated(0.42) neutral(0.014) HMMPfam_7tm_3 CD300A 11314 genome.wustl.edu 37 17 72469853 72469853 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007261.2 +1 validated p.G73 0.961 161 0% 184 37% - - - - - HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin FDXR 2232 genome.wustl.edu 37 17 72868348 72868348 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000413947 -1 known p.K58T 0.002 33 0% 41 39% - - possibly_damaging(0.602) tolerated(0.08) deleterious(0.508) superfamily_Nucleotide-binding domain C17orf28 283987 genome.wustl.edu 37 17 72950424 72950424 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030630.2 -1 validated p.R558H 1.000 76 0% 156 35.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Hid1 C17orf28 283987 genome.wustl.edu 37 17 72956279 72956279 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030630.2 -1 validated p.G265R 1.000 54 0% 100 36% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Hid1 CDR2L 30850 genome.wustl.edu 37 17 72999975 72999975 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014603.2 +1 validated p.R402C 0.910 27 0% 39 38.5% - - possibly_damaging(0.672) tolerated(0.05) deleterious(0.583) NULL ICT1 3396 genome.wustl.edu 37 17 73017032 73017032 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001545.1 +1 reviewed p.R185W 1.000 80 0% 119 36.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RF-1 HN1 51155 genome.wustl.edu 37 17 73143673 73143673 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001002032.1 -1 validated p.S92F 0.961 53 0% 65 43.1% - - benign(0.273) tolerated(0.08) neutral(0.329) NULL GGA3 23163 genome.wustl.edu 37 17 73235932 73235932 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138619.2 -1 reviewed p.A507 0.000 21 0% 45 33.3% - - - - - NULL CASKIN2 57513 genome.wustl.edu 37 17 73502916 73502916 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020753.3 -1 validated p.T150 0.028 133 0% 255 35.3% - - - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat RECQL5 9400 genome.wustl.edu 37 17 73627235 73627235 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004259.5 -1 validated p.R515C 1.000 39 0% 100 19% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ITGB4 3691 genome.wustl.edu 37 17 73736931 73736931 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000213.3 +1 reviewed p.R870W 1.000 26 0% 53 43.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ITGB4 3691 genome.wustl.edu 37 17 73746856 73746856 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000213.3 +1 reviewed p.C1190 1.000 33 0% 61 11.5% - - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III UNK 85451 genome.wustl.edu 37 17 73815803 73815803 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080419.1 +1 provisional p.V605M 1.000 88 1.1% 153 29.4% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL UNC13D 201294 genome.wustl.edu 37 17 73838671 73838671 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_199242.2 -1 reviewed p.L138M 1.000 15 0% 39 33.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) WBP2 23558 genome.wustl.edu 37 17 73845696 73845696 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012478.3 -1 reviewed p.A98V 1.000 110 0% 230 34.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TRIM47 91107 genome.wustl.edu 37 17 73870764 73870764 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033452.2 -1 validated p.R573W 1.000 29 0% 65 43.1% - - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL TRIM47 91107 genome.wustl.edu 37 17 73872484 73872484 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033452.2 -1 validated p.G287 0.999 19 0% 48 39.6% - - - - - NULL EVPL 2125 genome.wustl.edu 37 17 74003665 74003665 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001988.2 -1 validated p.R1874H 0.975 58 0% 105 39% - - probably_damaging(0.997) tolerated(0.1) deleterious(0.752) HMMPfam_Plectin,HMMSmart_SM00250,superfamily_Plakin repeat EVPL 2125 genome.wustl.edu 37 17 74006622 74006622 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001988.2 -1 validated p.K888 0.996 35 0% 61 36.1% - - - - - NULL RNF157 114804 genome.wustl.edu 37 17 74151388 74151388 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_052916.2 -1 validated p.A570V 0.071 22 0% 38 42.1% - - benign(0) deleterious(0.02) neutral(0.383) NULL QRICH2 84074 genome.wustl.edu 37 17 74274150 74274150 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032134.1 -1 provisional p.F1513 0.568 54 0% 122 35.2% - - - - - NULL QRICH2 84074 genome.wustl.edu 37 17 74300527 74300527 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032134.1 -1 provisional p.A59V 0.435 20 0% 76 39.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL UBE2O 63893 genome.wustl.edu 37 17 74398172 74398172 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022066.3 -1 validated p.Y241 0.974 26 0% 52 50% - - - - - NULL SEC14L1 6397 genome.wustl.edu 37 17 75196626 75196626 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001039573.2 +1 reviewed p.A294T 1.000 123 0% 112 33% - - probably_damaging(0.997) deleterious(0.03) deleterious(0.831) HMMPfam_CRAL_TRIO_N,superfamily_CRAL/TRIO N-terminal domain C17orf99 100141515 genome.wustl.edu 37 17 76162048 76162048 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000340363 +1 known p.R240H 0.000 50 0% 134 35.8% - - benign(0) - - NULL LOC283999 283999 genome.wustl.edu 37 17 76236026 76236026 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001145529.1 +1 provisional p.D386N 0.000 13 0% 39 38.5% - - unknown(0) - - NULL PGS1 9489 genome.wustl.edu 37 17 76395605 76395605 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024419.3 +1 provisional p.V230I 0.902 55 0% 85 40% - - benign(0.061) tolerated(0.14) neutral(0.254) HMMPfam_PLDc,superfamily_Phospholipase D/nuclease DNAH17 8632 genome.wustl.edu 37 17 76472660 76472660 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000389840 -1 known p.F2702L 1.000 196 0% 292 40.4% - - benign(0) tolerated(0.64) neutral(0.003) superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH17 8632 genome.wustl.edu 37 17 76488760 76488760 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000389840 -1 known p.E2152K 1.000 62 0% 164 42.1% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH17 8632 genome.wustl.edu 37 17 76502885 76502885 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000389840 -1 known p.K1570E 0.999 95 0% 137 27.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DHC_N2 DNAH17 8632 genome.wustl.edu 37 17 76503450 76503450 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000389840 -1 known p.A1525V 0.643 66 0% 100 10% - - benign(0) tolerated(0.28) neutral(0.032) HMMPfam_DHC_N2 DNAH17 8632 genome.wustl.edu 37 17 76547686 76547686 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000389840 -1 known p.I774M 0.003 218 0% 244 40.2% - - benign(0) tolerated(0.2) neutral(0.049) NULL DNAH17 8632 genome.wustl.edu 37 17 76548857 76548857 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000389840 -1 known p.L737I 0.831 195 0% 160 38.8% - - benign(0.021) deleterious(0.05) neutral(0.346) HMMPfam_DHC_N1 CYTH1 9267 genome.wustl.edu 37 17 76672181 76672181 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004762.2 -1 reviewed p.R397* 1.000 67 1.5% 98 11.2% - - - - - NULL USP36 57602 genome.wustl.edu 37 17 76817116 76817116 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025090.3 -1 validated p.S262L 1.000 40 0% 48 25% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UCH,superfamily_SSF54001 TIMP2 7077 genome.wustl.edu 37 17 76851839 76851839 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003255.4 -1 reviewed p.F191 0.991 46 0% 65 38.5% - - - - - HMMPfam_TIMP,HMMSmart_NTR,superfamily_TIMP_like LGALS3BP 3959 genome.wustl.edu 37 17 76967841 76967841 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005567.3 -1 reviewed p.L525 0.988 56 0% 124 37.9% - - - - - NULL C1QTNF1 114897 genome.wustl.edu 37 17 77042644 77042644 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030968.2 +1 validated p.E55* 0.781 37 0% 61 29.5% - - - - - NULL ENGASE 64772 genome.wustl.edu 37 17 77073797 77073797 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001042573.1 +1 validated p.S89 0.001 96 0% 170 17.1% - - - - - NULL ENPP7 339221 genome.wustl.edu 37 17 77709444 77709444 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178543.3 +1 validated p.S334 0.325 28 0% 56 46.4% - - - - - HMMPfam_Phosphodiest,superfamily_Alkaline_phosphatase_core CBX8 57332 genome.wustl.edu 37 17 77769893 77769893 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020649.2 -1 validated p.K70R 1.000 103 0% 201 37.3% - - probably_damaging(0.99) tolerated(0.15) deleterious(0.682) superfamily_Chromodomain-like TBC1D16 125058 genome.wustl.edu 37 17 77925284 77925284 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_019020.2 -1 provisional p.W352R 1.000 53 0% 107 31.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CCDC40 55036 genome.wustl.edu 37 17 78014006 78014006 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017950.2 +1 validated p.H163 0.000 36 0% 68 27.9% - - - - - NULL SGSH 6448 genome.wustl.edu 37 17 78184305 78184305 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000199.3 -1 reviewed p.G485 0.045 36 0% 70 40% - - - - - superfamily_Alkaline_phosphatase_core RNF213 57674 genome.wustl.edu 37 17 78307920 78307920 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000508628 +1 known p.D1387N 0.000 89 0% 90 38.9% - - benign(0.021) tolerated(0.28) neutral(0.033) NULL RNF213 57674 genome.wustl.edu 37 17 78310294 78310294 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000411702 +1 known p.R1597H 0.000 18 0% 23 30.4% - - unknown(0) deleterious(0) - NULL RNF213 57674 genome.wustl.edu 37 17 78363970 78363970 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000508628 +1 known p.T5148 0.000 61 0% 57 24.6% - - - - - NULL RPTOR 57521 genome.wustl.edu 37 17 78811749 78811749 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020761.2 +1 reviewed p.I388 0.809 48 0% 126 37.3% - - - - - NULL AZI1 22994 genome.wustl.edu 37 17 79166536 79166536 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014984.2 -1 validated p.R810M 1.000 7 0.000 9 0.778 - - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL AZI1 22994 genome.wustl.edu 37 17 79177380 79177380 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014984.2 -1 validated p.C181 0.090 42 0% 97 34% - - - - - NULL SLC38A10 124565 genome.wustl.edu 37 17 79220055 79220055 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001037984.1 -1 validated p.G887 0.000 25 0% 54 48.1% - - - - - NULL LINC00482 284185 genome.wustl.edu 37 17 79278436 79278436 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178519.2 -1 predicted p.C243 0.002 63 0% 110 11.8% - - - - - NULL BAHCC1 57597 genome.wustl.edu 37 17 79428027 79428027 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000436173 +1 known p.S2113I 0.979 8 0.000 14 0.286 - - benign(0.303) deleterious(0.01) deleterious(0.500) NULL BAHCC1 57597 genome.wustl.edu 37 17 79428242 79428242 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000436173 +1 known p.R2185W 0.890 10 0% 28 32.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL BAHCC1 57597 genome.wustl.edu 37 17 79429871 79429871 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000436173 +1 known p.R2497W 0.947 51 0% 105 41% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_BAH,HMMSmart_SM00439 NPLOC4 55666 genome.wustl.edu 37 17 79563180 79563180 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017921.2 -1 validated p.G361V 1.000 65 0% 78 32.1% - - probably_damaging(0.98) deleterious(0) deleterious(0.869) HMMPfam_NPL4 TSPAN10 83882 genome.wustl.edu 37 17 79612579 79612579 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000328585 +1 known p.R200C 0.993 18 0% 49 46.9% - - benign(0.016) tolerated(0.1) neutral(0.287) superfamily_Tetraspanin,HMMPfam_Tetraspannin HGS 9146 genome.wustl.edu 37 17 79663480 79663480 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004712.3 +1 provisional p.R496H 1.000 12 0% 27 29.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL FAM195B 348262 genome.wustl.edu 37 17 79782161 79782161 + Splice_Site SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001093767.1 -1 validated e2+2 0.991 37 0% 83 43.4% - - - - - - PPP1R27 116729 genome.wustl.edu 37 17 79792402 79792402 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001007533.3 -1 validated p.S106 0.243 68 0% 180 36.7% - - - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK ASPSCR1 79058 genome.wustl.edu 37 17 79954311 79954311 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024083.2 +1 reviewed p.C174 0.000 8 0.000 25 0.320 - - - - - NULL DUS1L 64118 genome.wustl.edu 37 17 80019498 80019498 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022156.3 -1 validated p.S231 0.996 36 0% 86 36% - - - - - HMMPfam_Dus,superfamily_SSF51395 SECTM1 6398 genome.wustl.edu 37 17 80280762 80280762 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003004.2 -1 reviewed p.R177C 0.001 13 0% 36 55.6% - - benign(0.053) deleterious(0.03) neutral(0.368) NULL FN3K 64122 genome.wustl.edu 37 17 80696414 80696414 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022158.3 +1 validated p.S64I 0.000 84 0% 199 38.7% - - benign(0.119) tolerated(0.16) neutral(0.069) superfamily_Kinase_like,HMMPfam_Fructosamin_kin TBCD 6904 genome.wustl.edu 37 17 80763759 80763759 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005993.4 +1 reviewed p.R320H 1.000 42 2.4% 97 37.1% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_ARM repeat TBCD 6904 genome.wustl.edu 37 17 80890580 80890580 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005993.4 +1 reviewed p.G1054S 0.964 34 0% 110 30% - - possibly_damaging(0.735) tolerated(0.16) neutral(0.328) superfamily_ARM repeat COLEC12 81035 genome.wustl.edu 37 18 347000 347000 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_130386.2 -1 validated p.N208D 1.000 128 0% 75 36% - - unknown(0) - - NULL CLUL1 27098 genome.wustl.edu 37 18 627157 627157 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014410.4 +1 validated p.K162Q 0.000 102 1% 43 44.2% - - benign(0.086) tolerated(0.31) neutral(0.034) HMMPfam_Clusterin,HMMSmart_CLb CLUL1 27098 genome.wustl.edu 37 18 644952 644952 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014410.4 +1 validated p.E418K 0.295 132 0% 94 29.8% - - benign(0.237) tolerated(0.29) neutral(0.053) HMMPfam_Clusterin,HMMSmart_CLa NDC80 10403 genome.wustl.edu 37 18 2606502 2606502 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006101.2 +1 validated p.I518S 0.857 81 0% 23 30.4% - - benign(0.032) tolerated(0.11) neutral(0.273) NULL LOC645158 645158 genome.wustl.edu 37 18 2652871 2652871 + RNA SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XR_078662.1 -1 model NULL 0.997 36 0% 39 48.7% - - - - - - SMCHD1 23347 genome.wustl.edu 37 18 2718175 2718175 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015295.2 +1 validated p.E760D 1.000 197 0% 96 30.2% - - probably_damaging(0.973) tolerated(0.15) deleterious(0.656) NULL LPIN2 9663 genome.wustl.edu 37 18 2920829 2920829 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014646.2 -1 reviewed p.T831 0.087 156 0% 195 13.3% - - - - - HMMPfam_LNS2,HMMSmart_LNS2,superfamily_SSF56784 MYOM1 8736 genome.wustl.edu 37 18 3141949 3141949 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003803.3 -1 reviewed p.Y671* 1.000 57 0% 35 34.3% - - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III MYOM1 8736 genome.wustl.edu 37 18 3189036 3189036 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003803.3 -1 reviewed p.E161* 1.000 497 0% 212 35.4% - - - - - NULL TGIF1 7050 genome.wustl.edu 37 18 3457547 3457547 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_170695.2 +1 reviewed p.S272Y 0.995 81 0% 73 28.8% - - benign(0.167) deleterious(0.01) neutral(0.421) NULL LOC642597 642597 genome.wustl.edu 37 18 5197041 5197041 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001145194.1 -1 validated p.A4 0.998 101 0% 132 36.4% - - - - - NULL ZFP161 7541 genome.wustl.edu 37 18 5291669 5291669 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001143823.1 -1 validated p.G180C 0.999 92 0% 101 34.7% - - possibly_damaging(0.74) deleterious(0.01) deleterious(0.677) NULL EPB41L3 23136 genome.wustl.edu 37 18 5423391 5423391 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012307.2 -1 provisional p.R442H 1.000 144 0% 55 36.4% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_FA LAMA1 284217 genome.wustl.edu 37 18 6964739 6964739 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005559.2 -1 validated p.P2420L 1.000 184 0.5% 104 43.3% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 LAMA1 284217 genome.wustl.edu 37 18 7016515 7016515 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005559.2 -1 validated p.Y988 0.000 48 0% 56 30.4% - - - - - HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,superfamily_EGF/Laminin LRRC30 339291 genome.wustl.edu 37 18 7231371 7231371 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001105581.1 +1 provisional p.S79P 1.000 34 0% 32 31.2% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_LRR_1,superfamily_SSF52058 SOGA2 23255 genome.wustl.edu 37 18 8824745 8824745 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015210.3 +1 predicted p.I1079 1.000 57 0% 73 27.4% - - - - - NULL ANKRD12 23253 genome.wustl.edu 37 18 9255625 9255625 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015208.3 +1 validated p.S787Y 0.010 114 0% 59 33.9% - - benign(0.273) deleterious(0.02) neutral(0.412) superfamily_Ankyrin repeat ANKRD12 23253 genome.wustl.edu 37 18 9257029 9257029 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015208.3 +1 validated p.S1255Y 1.000 106 0% 39 25.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Ankyrin repeat ANKRD12 23253 genome.wustl.edu 37 18 9257695 9257695 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015208.3 +1 validated p.S1477F 0.466 84 0% 22 18.2% - - possibly_damaging(0.491) deleterious(0) deleterious(0.608) superfamily_Ankyrin repeat RALBP1 10928 genome.wustl.edu 37 18 9513084 9513084 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006788.3 +1 validated p.E14G 1.000 68 0% 38 57.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL VAPA 9218 genome.wustl.edu 37 18 9931856 9931856 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003574.5 +1 reviewed p.S43 0.590 108 0% 51 49% - - - - - HMMPfam_Motile_Sperm,superfamily_PapD-like VAPA 9218 genome.wustl.edu 37 18 9937051 9937051 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003574.5 +1 reviewed p.E135D 1.000 151 0% 54 35.2% - - benign(0.007) tolerated(0.13) neutral(0.253) NULL VAPA 9218 genome.wustl.edu 37 18 9944943 9944943 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003574.5 +1 reviewed p.A147V 0.079 142 0% 69 37.7% - - benign(0.008) tolerated(1) - NULL GNAL 2774 genome.wustl.edu 37 18 11868564 11868564 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182978.2 +1 validated p.V311 0.667 181 0% 140 43.6% - - - - - HMMPfam_G-alpha,superfamily_SSF52540 ENSG00000231452 0 genome.wustl.edu 37 18 12067626 12067626 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000455542 -1 known p.A212D 0.992 21 0% 20 55% - - - - - HMMPfam_SSDP ENSG00000231452 0 genome.wustl.edu 37 18 12067962 12067962 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000455542 -1 known p.G100D 1.000 11 0% 14 28.6% - - - - - HMMPfam_SSDP AFG3L2 10939 genome.wustl.edu 37 18 12351323 12351323 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006796.1 -1 reviewed p.D470N 1.000 160 0% 147 35.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_AAA,HMMPfam_AAA,superfamily_SSF52540 AFG3L2 10939 genome.wustl.edu 37 18 12358669 12358669 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006796.1 -1 reviewed p.K342N 1.000 99 0% 71 31% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_AAA,superfamily_SSF52540 PTPN2 5771 genome.wustl.edu 37 18 12802121 12802121 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002828.2 -1 reviewed p.D296 0.228 262 0% 99 31.3% - - - - - superfamily_(Phosphotyrosine protein) phosphatases II CEP192 55125 genome.wustl.edu 37 18 13049796 13049796 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032142.3 +1 validated p.R379C 0.000 113 0% 58 36.2% - - possibly_damaging(0.544) tolerated(0.11) neutral(0.456) NULL CEP192 55125 genome.wustl.edu 37 18 13071106 13071106 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032142.3 +1 validated p.S1152Y 0.174 139 0% 52 40.4% - - probably_damaging(0.961) tolerated(0.08) deleterious(0.704) NULL MC5R 4161 genome.wustl.edu 37 18 13825767 13825767 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005913.1 +1 provisional p.M1I 1.000 62 0% 88 36.4% - - possibly_damaging(0.887) deleterious(0) deleterious(0.791) superfamily_Family A G protein-coupled receptor-like MC5R 4161 genome.wustl.edu 37 18 13826089 13826089 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005913.1 +1 provisional p.A109T 0.260 116 0% 158 38.6% - - benign(0) tolerated(0.26) neutral(0.034) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like MC5R 4161 genome.wustl.edu 37 18 13826716 13826716 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005913.1 +1 provisional p.A318T 0.000 88 0% 111 34.2% - - benign(0) tolerated(0.39) neutral(0.016) NULL ANKRD30B 374860 genome.wustl.edu 37 18 14752955 14752955 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001145029.1 +1 validated p.L152 0.003 225 0% 197 36.5% - - - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat ANKRD30B 374860 genome.wustl.edu 37 18 14778016 14778016 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001145029.1 +1 validated p.T454 0.000 160 0% 63 34.9% - - - - - NULL ANKRD30B 374860 genome.wustl.edu 37 18 14799109 14799109 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001145029.1 +1 validated p.D680G 0.005 434 0% 188 32.4% - - probably_damaging(0.965) deleterious(0.03) deleterious(0.771) NULL GREB1L 80000 genome.wustl.edu 37 18 18964282 18964282 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001142966.1 +1 provisional p.D91 0.999 92 0% 63 47.6% - - - - - NULL GREB1L 80000 genome.wustl.edu 37 18 19080060 19080060 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001142966.1 +1 provisional p.S1254 0.002 21 0% 34 26.5% - - - - - NULL C18orf8 29919 genome.wustl.edu 37 18 21096388 21096388 + Splice_Site SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013326.3 +1 validated e7+1 1.000 100 0% 63 33.3% - - - - - - C18orf8 29919 genome.wustl.edu 37 18 21110523 21110523 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013326.3 +1 validated p.R614H 1.000 89 0% 70 32.9% - - probably_damaging(0.974) deleterious(0.02) deleterious(0.799) HMMPfam_Mic1 LAMA3 3909 genome.wustl.edu 37 18 21395522 21395522 + Missense_Mutation SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198129.1 +1 reviewed p.Y678N 1.000 103 0% 48 35.4% - - probably_damaging(0.993) tolerated(0.3) deleterious(0.479) HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,superfamily_EGF/Laminin OSBPL1A 114876 genome.wustl.edu 37 18 21759783 21759783 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_080597.2 -1 reviewed p.A610V 1.000 99 0% 50 30% - - probably_damaging(0.996) deleterious(0.03) deleterious(0.826) HMMPfam_Oxysterol_BP ZNF521 25925 genome.wustl.edu 37 18 22804504 22804504 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015461.2 -1 validated p.A1126 0.974 171 0% 61 11.5% - - - - - NULL ZNF521 25925 genome.wustl.edu 37 18 22805605 22805605 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015461.2 -1 validated p.W759C 1.000 120 0% 29 44.8% - - probably_damaging(1) tolerated(0.2) deleterious(0.549) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers AQP4 361 genome.wustl.edu 37 18 24440778 24440778 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001650.4 -1 reviewed p.S217 0.988 80 0% 76 30.3% - - - - - HMMPfam_MIP,superfamily_Aquaporin-like CHST9 83539 genome.wustl.edu 37 18 24497283 24497283 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031422.4 -1 validated p.R91Q 0.000 115 0% 31 29% - - benign(0.427) tolerated(0.14) neutral(0.389) NULL CDH2 1000 genome.wustl.edu 37 18 25563014 25563014 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001792.3 -1 reviewed p.R748H 1.000 257 0.4% 81 27.2% - - probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMPfam_Cadherin_C CDH2 1000 genome.wustl.edu 37 18 25583057 25583057 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001792.3 -1 reviewed p.I308 0.997 153 0% 69 33.3% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like DSC3 1825 genome.wustl.edu 37 18 28576924 28576924 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001941.3 -1 reviewed p.Q776* 0.992 187 0% 45 33.3% - - - - - NULL DSC3 1825 genome.wustl.edu 37 18 28609524 28609524 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001941.3 -1 reviewed p.C142Y 0.855 73 0% 44 31.8% - - benign(0.054) tolerated(0.15) neutral(0.244) HMMPfam_Cadherin,superfamily_Cadherin-like DSC3 1825 genome.wustl.edu 37 18 28610991 28610991 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001941.3 -1 reviewed p.K101R 0.000 117 0% 74 37.8% - - benign(0) tolerated(0.08) neutral(0.300) HMMPfam_Cadherin_pro,superfamily_Cadherin-like DSC1 1823 genome.wustl.edu 37 18 28736014 28736014 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024421.2 -1 reviewed p.V155I 0.002 98 0% 93 39.8% - - benign(0.003) tolerated(0.14) neutral(0.249) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like DSG1 1828 genome.wustl.edu 37 18 28934290 28934290 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001942.2 +1 reviewed p.G711* 1.000 110 0% 73 39.7% - - - - - HMMPfam_Cadherin_C DSG1 1828 genome.wustl.edu 37 18 28935266 28935266 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001942.2 +1 reviewed p.R1036Q 1.000 50 0% 42 35.7% - - possibly_damaging(0.516) tolerated(0.14) neutral(0.423) NULL DSG3 1830 genome.wustl.edu 37 18 29044311 29044311 + Missense_Mutation SNP G G A rs191249015 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001944.2 +1 reviewed p.D413N 0.998 92 0% 48 35.4% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin B4GALT6 9331 genome.wustl.edu 37 18 29205585 29205585 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004775.3 -1 reviewed p.D381N 1.000 159 0% 74 37.8% - - benign(0.028) deleterious(0) neutral(0.446) NULL B4GALT6 9331 genome.wustl.edu 37 18 29207013 29207013 + Missense_Mutation SNP A A T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004775.3 -1 reviewed p.F283Y 1.000 129 0% 95 29.5% - - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_Galactosyl_T_2,superfamily_SSF53448 TRAPPC8 22878 genome.wustl.edu 37 18 29444654 29444654 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014939.3 -1 validated p.S894Y 1.000 165 0% 49 26.5% - - possibly_damaging(0.925) deleterious(0) deleterious(0.818) NULL TRAPPC8 22878 genome.wustl.edu 37 18 29450466 29450466 + Splice_Site SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014939.3 -1 validated e16-1 1.000 60 0% 29 44.8% - - - - - - FAM59A 64762 genome.wustl.edu 37 18 29850300 29850300 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022751.1 -1 provisional p.R538Q 1.000 287 0% 150 36.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL FAM59A 64762 genome.wustl.edu 37 18 29867721 29867721 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022751.1 -1 provisional p.T280M 1.000 182 0% 98 29.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL KLHL14 57565 genome.wustl.edu 37 18 30260221 30260221 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020805.1 -1 provisional p.R500Q 1.000 242 0% 57 31.6% - - probably_damaging(0.997) tolerated(1) neutral(0.466) HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central NOL4 8715 genome.wustl.edu 37 18 31463253 31463253 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003787.3 -1 validated p.G560W 1.000 133 0% 30 33.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL DTNA 1837 genome.wustl.edu 37 18 32444009 32444009 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001390.4 +1 reviewed p.L549I 1.000 165 0% 101 28.7% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ZNF397 84307 genome.wustl.edu 37 18 32822630 32822630 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001135178.2 +1 reviewed p.E66K 1.000 76 0% 72 41.7% - - possibly_damaging(0.791) deleterious(0) deleterious(0.741) HMMPfam_SCAN,HMMSmart_SM00431 INO80C 125476 genome.wustl.edu 37 18 33059310 33059310 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001098817.1 -1 validated p.I147 0.986 207 0% 80 36.2% - - - - - NULL GALNT1 2589 genome.wustl.edu 37 18 33289623 33289623 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020474.3 +1 reviewed p.C523 1.000 107 0% 35 40% - - - - - HMMPfam_Ricin_B_lectin,HMMSmart_SM00458,superfamily_Ricin B-like lectins C18orf21 83608 genome.wustl.edu 37 18 33558909 33558909 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031446.3 +1 validated p.K201N 0.097 107 0% 79 39.2% - - possibly_damaging(0.762) tolerated(0.1) deleterious(0.569) NULL PIK3C3 5289 genome.wustl.edu 37 18 39609305 39609305 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002647.2 +1 validated p.R536K 1.000 191 0% 45 35.6% - - benign(0) tolerated(0.53) neutral(0.007) superfamily_Kinase_like EPG5 57724 genome.wustl.edu 37 18 43464740 43464740 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020964.2 -1 validated p.V1716L 0.601 113 0% 56 32.1% - - benign(0) tolerated(1) - NULL EPG5 57724 genome.wustl.edu 37 18 43479407 43479407 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020964.2 -1 validated p.G1591S 0.255 127 0% 60 35% - - benign(0.002) tolerated(0.14) neutral(0.249) NULL LOXHD1 125336 genome.wustl.edu 37 18 44114399 44114399 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144612.6 -1 reviewed p.E1093* 1.000 151 0% 85 49.4% - - - - - HMMPfam_PLAT,superfamily_Lipase_LipOase LOXHD1 125336 genome.wustl.edu 37 18 44139508 44139508 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000441551 -1 known p.C1020* 1.000 135 0% 149 38.3% - - probably_damaging(0.986) deleterious(0) deleterious(0.879) HMMPfam_PLAT,HMMSmart_SM00308,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain) LOXHD1 125336 genome.wustl.edu 37 18 44146334 44146334 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144612.6 -1 reviewed p.P497S 1.000 45 0% 42 47.6% - - benign(0.008) tolerated(0.15) neutral(0.241) HMMPfam_PLAT,HMMSmart_LH2,superfamily_Lipase_LipOase LOXHD1 125336 genome.wustl.edu 37 18 44149553 44149553 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144612.6 -1 reviewed p.S421I 1.000 126 0.8% 94 40.4% - - benign(0.376) deleterious(0.04) deleterious(0.469) HMMPfam_PLAT,HMMSmart_LH2,superfamily_Lipase_LipOase LOXHD1 125336 genome.wustl.edu 37 18 44159683 44159683 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000441551 -1 known p.L554I 1.000 188 0% 82 40.2% - - - - - HMMPfam_PLAT,HMMSmart_SM00308,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain) LOXHD1 125336 genome.wustl.edu 37 18 44181292 44181292 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144612.6 -1 reviewed p.R63Q 1.000 65 0% 36 41.7% - - unknown(0) deleterious(0.02) - HMMPfam_PLAT,HMMSmart_LH2,superfamily_Lipase_LipOase PIAS2 9063 genome.wustl.edu 37 18 44398353 44398353 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173206.2 -1 validated p.T569N 1.000 264 0% 45 28.9% - - probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL ZBTB7C 201501 genome.wustl.edu 37 18 45566720 45566720 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001039360.1 -1 validated p.P253 0.034 37 0% 36 38.9% - - - - - NULL ZBTB7C 201501 genome.wustl.edu 37 18 45567083 45567083 + Silent SNP G G A rs139390741 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001039360.1 -1 validated p.D132 0.000 244 0% 317 41% - - - - - NULL CTIF 9811 genome.wustl.edu 37 18 46385864 46385864 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001142397.1 +1 validated p.S579 1.000 27 0% 51 43.1% - - - - - HMMPfam_MIF4G,HMMSmart_MIF4G,superfamily_ARM-type_fold DYM 54808 genome.wustl.edu 37 18 46570520 46570520 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017653.3 -1 reviewed p.F639V 1.000 93 0% 61 36.1% - - possibly_damaging(0.706) deleterious(0) deleterious(0.699) HMMPfam_Dymeclin ACAA2 10449 genome.wustl.edu 37 18 47323856 47323856 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006111.2 -1 reviewed p.S98P 1.000 74 0% 96 39.6% - - probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_Thiolase_N,PatternScan_THIOLASE_1,superfamily_Thiolase-like MYO5B 4645 genome.wustl.edu 37 18 47518708 47518708 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080467.2 -1 reviewed p.G236R 1.000 166 0% 80 38.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO5B 4645 genome.wustl.edu 37 18 47518719 47518719 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080467.2 -1 reviewed p.Y232C 1.000 164 0% 87 34.5% - - possibly_damaging(0.945) tolerated(0.14) deleterious(0.639) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MBD1 4152 genome.wustl.edu 37 18 47796110 47796110 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000382948 -1 known p.R515Q 0.010 82 0% 186 41.4% - - - - - NULL MBD1 4152 genome.wustl.edu 37 18 47799730 47799730 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015846.3 -1 reviewed p.V520I 0.431 49 0% 82 17.1% - - benign(0.001) deleterious(0.02) neutral(0.383) NULL MBD1 4152 genome.wustl.edu 37 18 47806310 47806310 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015846.3 -1 reviewed p.R18H 0.991 20 0% 49 46.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MBD,HMMSmart_SM00391,superfamily_DNA-binding domain LOC100287130 100287130 genome.wustl.edu 37 18 47809047 47809047 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002343599.1 +1 model p.A83T 0.985 90 0% 155 38.1% - - - - - NULL C18orf54 162681 genome.wustl.edu 37 18 51898868 51898868 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173529.4 +1 validated p.G292 0.997 140 0% 41 41.5% - - - - - NULL WDR7 23335 genome.wustl.edu 37 18 54694426 54694426 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015285.2 +1 reviewed p.R1487 1.000 23 0% 26 26.9% - - - - - NULL NARS 4677 genome.wustl.edu 37 18 55274766 55274766 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004539.3 -1 validated p.I237 1.000 79 0% 42 33.3% - - - - - HMMPfam_tRNA-synt_2,superfamily_SSF55681 ALPK2 115701 genome.wustl.edu 37 18 56203878 56203878 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_052947.3 -1 validated p.E1181K 0.064 56 0% 32 50% - - possibly_damaging(0.647) tolerated(0.06) deleterious(0.549) NULL ZNF532 55205 genome.wustl.edu 37 18 56586604 56586604 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018181.4 +1 validated p.R362H 1.000 40 0% 54 27.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL LMAN1 3998 genome.wustl.edu 37 18 57013279 57013279 + Missense_Mutation SNP G G C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005570.3 -1 reviewed p.T276R 1.000 193 0% 90 40% - - possibly_damaging(0.816) tolerated(0.52) neutral(0.317) NULL MC4R 4160 genome.wustl.edu 37 18 58039242 58039242 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005912.2 -1 reviewed p.A114V 0.224 60 0% 18 33.3% - - benign(0.064) tolerated(0.4) neutral(0.020) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PIGN 23556 genome.wustl.edu 37 18 59780478 59780478 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012327.5 -1 reviewed p.F441L 0.998 157 0% 31 29% - - benign(0) tolerated(1) - HMMPfam_PigN TNFRSF11A 8792 genome.wustl.edu 37 18 60052118 60052118 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003839.2 +1 reviewed p.R568C 0.990 10 0% 20 40% - - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL VPS4B 9525 genome.wustl.edu 37 18 61078799 61078799 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004869.3 -1 reviewed p.L14M 1.000 104 0% 42 26.2% - - benign(0.235) tolerated(0.06) neutral(0.346) HMMPfam_MIT,HMMSmart_SM00745 SERPINB13 5275 genome.wustl.edu 37 18 61264313 61264313 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012397.3 +1 validated p.A298T 0.000 35 0% 28 28.6% - - benign(0.406) tolerated(0.63) neutral(0.134) HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins SERPINB11 89778 genome.wustl.edu 37 18 61383308 61383308 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_080475.2 +1 validated p.L133 0.194 257 0.8% 60 35% - - - - - HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins SERPINB11 89778 genome.wustl.edu 37 18 61390600 61390600 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_080475.2 +1 validated p.T382 0.000 141 0% 31 35.5% - - - - - HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins SERPINB8 5271 genome.wustl.edu 37 18 61652410 61652410 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002640.3 +1 validated p.E217D 1.000 105 0% 48 25% - - possibly_damaging(0.456) tolerated(0.09) neutral(0.446) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin CDH7 1005 genome.wustl.edu 37 18 63548088 63548088 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004361.2 +1 reviewed p.L772 0.055 42 0% 32 37.5% - - - - - HMMPfam_Cadherin_C CDH19 28513 genome.wustl.edu 37 18 64212121 64212121 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021153.2 -1 reviewed p.V265 0.322 194 0% 135 42.2% - - - - - HMMPfam_Cadherin,superfamily_Cadherin CDH19 28513 genome.wustl.edu 37 18 64235714 64235714 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021153.2 -1 reviewed p.D143 1.000 190 0% 33 42.4% - - - - - HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin DSEL 92126 genome.wustl.edu 37 18 65179886 65179886 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032160.2 -1 validated p.A664T 1.000 58 0% 84 36.9% - - probably_damaging(0.995) tolerated(0.08) deleterious(0.758) NULL DSEL 92126 genome.wustl.edu 37 18 65180515 65180515 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032160.2 -1 validated p.A454D 1.000 110 0% 114 35.1% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL DSEL 92126 genome.wustl.edu 37 18 65180743 65180743 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032160.2 -1 validated p.R378Q 1.000 163 0% 227 37.9% - - probably_damaging(1) tolerated(0.09) deleterious(0.796) NULL DSEL 92126 genome.wustl.edu 37 18 65181772 65181772 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032160.2 -1 validated p.S35Y 1.000 128 0% 167 35.3% - - probably_damaging(0.996) deleterious(0.03) deleterious(0.826) NULL TMX3 54495 genome.wustl.edu 37 18 66344351 66344351 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_019022.3 -1 validated p.G395V 1.000 215 0% 41 36.6% - - probably_damaging(0.989) tolerated(0.09) deleterious(0.736) NULL RTTN 25914 genome.wustl.edu 37 18 67742649 67742649 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173630.3 -1 validated p.R1501 0.003 88 0% 23 39.1% - - - - - NULL SOCS6 9306 genome.wustl.edu 37 18 67993261 67993261 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004232.3 +1 reviewed p.S453P 1.000 159 0% 109 36.7% - - probably_damaging(0.97) deleterious(0.01) deleterious(0.818) HMMPfam_SH2,HMMSmart_SH2,superfamily_SSF55550 SOCS6 9306 genome.wustl.edu 37 18 67993430 67993430 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004232.3 +1 reviewed p.R509H 1.000 143 0% 67 38.8% - - probably_damaging(0.99) deleterious(0.03) deleterious(0.806) HMMPfam_SOCS_box,HMMSmart_SOCS CBLN2 147381 genome.wustl.edu 37 18 70209171 70209171 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182511.3 -1 validated p.D75 0.995 17 0% 24 25% - - - - - NULL FAM69C 125704 genome.wustl.edu 37 18 72109231 72109231 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001044369.2 -1 validated p.R333* 0.001 108 0% 136 33.1% - - - - - NULL ZNF407 55628 genome.wustl.edu 37 18 72775977 72775977 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017757.2 +1 reviewed p.D2100 1.000 24 0% 63 49.2% - - - - - NULL ZADH2 284273 genome.wustl.edu 37 18 72913782 72913782 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_175907.4 -1 validated p.V241 0.988 71 0% 126 38.9% - - - - - HMMPfam_ADH_zinc_N,superfamily_NAD(P)-binding Rossmann-fold domains TSHZ1 10194 genome.wustl.edu 37 18 73000169 73000169 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005786.4 +1 reviewed p.S891F 1.000 82 0% 100 11% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_SM00389 ZNF516 9658 genome.wustl.edu 37 18 74092067 74092067 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000443185 -1 known p.R668I 0.000 128 0% 171 10.5% - - possibly_damaging(0.92) deleterious(0.03) deleterious(0.736) NULL GALR1 2587 genome.wustl.edu 37 18 74962694 74962694 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001480.3 +1 reviewed p.G64C 1.000 21 0% 77 32.5% - - probably_damaging(0.986) deleterious(0.02) deleterious(0.818) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like SALL3 27164 genome.wustl.edu 37 18 76752162 76752162 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_171999.2 +1 validated p.C57 0.949 6 0.000 12 0.500 - - - - - HMMSmart_SM00355 SALL3 27164 genome.wustl.edu 37 18 76754952 76754952 + Silent SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_171999.2 +1 validated p.A987 1.000 37 0% 87 13.8% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SALL3 27164 genome.wustl.edu 37 18 76755282 76755282 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_171999.2 +1 validated p.G1097 1.000 10 0% 22 36.4% - - - - - NULL ATP9B 374868 genome.wustl.edu 37 18 77107910 77107910 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198531.3 +1 validated p.I941 1.000 55 0% 90 33.3% - - - - - NULL ATP9B 374868 genome.wustl.edu 37 18 77108158 77108158 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198531.3 +1 validated p.F955 0.966 299 0% 422 35.5% - - - - - NULL KCNG2 26251 genome.wustl.edu 37 18 77659307 77659307 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012283.1 +1 reviewed p.V298M 1.000 7 0.000 21 0.476 - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Ion_trans,superfamily_SSF81324 PPAP2C 8612 genome.wustl.edu 37 19 282294 282294 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_177543.1 -1 reviewed p.R207Q 0.743 34 0% 75 10.7% - - probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_PAP2,HMMSmart_acidPPc,superfamily_AcPase_VanPerase MIER2 54531 genome.wustl.edu 37 19 311869 311869 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017550.1 -1 provisional p.N320 1.000 57 0% 105 31.4% - - - - - HMMSmart_SANT,HMMPfam_Myb_DNA-binding MADCAM1 8174 genome.wustl.edu 37 19 498585 498585 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_130760.2 +1 reviewed p.D143N 0.000 21 0% 34 29.4% - - benign(0.373) tolerated(0.41) neutral(0.134) HMMPfam_Adhes-Ig_like,superfamily_Immunoglobulin HCN2 610 genome.wustl.edu 37 19 613886 613886 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001194.3 +1 validated p.A620 1.000 6 0.000 24 0.375 - - - - - HMMPfam_cNMP_binding,HMMSmart_cNMP,superfamily_cNMP_binding POLRMT 5442 genome.wustl.edu 37 19 618504 618504 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005035.3 -1 reviewed p.A1136T 0.988 136 0% 302 44.4% - - probably_damaging(0.987) deleterious(0.02) deleterious(0.820) HMMPfam_RNA_pol,superfamily_SSF56672 POLRMT 5442 genome.wustl.edu 37 19 619598 619598 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005035.3 -1 reviewed p.S1018 0.001 17 0% 45 35.6% - - - - - HMMPfam_RNA_pol,superfamily_SSF56672 RNF126 55658 genome.wustl.edu 37 19 647940 647940 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000340092 -1 known p.T309I 0.004 6 0.000 17 0.412 - - benign(0.016) tolerated(0.05) neutral(0.346) NULL FSTL3 10272 genome.wustl.edu 37 19 681702 681702 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005860.2 +1 reviewed p.F262 0.982 6 0.000 15 0.267 - - - - - NULL LPPR3 79948 genome.wustl.edu 37 19 815723 815723 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024888.1 -1 provisional p.E68 0.997 30 0% 55 34.5% - - - - - superfamily_AcPase_VanPerase ABCA7 10347 genome.wustl.edu 37 19 1041882 1041882 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_019112.3 +1 reviewed p.Q71 1.000 15 0% 30 53.3% - - - - - NULL SBNO2 22904 genome.wustl.edu 37 19 1122759 1122759 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014963.2 -1 validated p.R271H 1.000 13 0% 41 34.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases MIDN 90007 genome.wustl.edu 37 19 1255564 1255564 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_177401.4 +1 validated p.A334T 0.998 20 0% 50 32% - - benign(0.082) tolerated(0.56) neutral(0.013) NULL MUM1 84939 genome.wustl.edu 37 19 1362259 1362259 + Silent SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032853.3 +1 validated p.S375 0.001 55 0% 112 42.9% - - - - - NULL ADAMTSL5 339366 genome.wustl.edu 37 19 1506059 1506059 + Silent SNP C C T rs182451667 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_213604.2 -1 validated p.A457 0.003 9 0.000 38 0.289 - - - - - superfamily_TIMP_like,HMMPfam_NTR CSNK1G2-AS1 255193 genome.wustl.edu 37 19 1953936 1953936 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000314315 -1 known p.R67H 0.000 70 0% 185 35.7% - - - - - NULL AP3D1 8943 genome.wustl.edu 37 19 2115586 2115586 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003938.5 -1 validated p.E700D 0.830 29 0% 74 35.1% - - benign(0.004) tolerated(0.5) neutral(0.010) HMMPfam_BLVR DOT1L 84444 genome.wustl.edu 37 19 2185905 2185905 + Silent SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032482.2 +1 validated p.V59 0.004 165 0% 364 39.8% - - - - - superfamily_SSF53335 DOT1L 84444 genome.wustl.edu 37 19 2211820 2211820 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032482.2 +1 validated p.Q512H 1.000 77 0% 167 37.1% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL SLC39A3 29985 genome.wustl.edu 37 19 2737072 2737072 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144564.4 -1 validated p.A62T 1.000 72 0% 147 35.4% - - probably_damaging(0.996) tolerated(0.21) deleterious(0.506) HMMPfam_Zip ZNF554 115196 genome.wustl.edu 37 19 2834041 2834041 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001102651.1 +1 validated p.R270W 0.002 105 0% 125 33.6% - - possibly_damaging(0.923) deleterious(0) deleterious(0.817) NULL ZNF77 58492 genome.wustl.edu 37 19 2933732 2933732 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021217.2 -1 validated p.E465K 0.000 188 0% 201 21.9% - - benign(0.009) tolerated(0.57) neutral(0.007) HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 NFIC 4782 genome.wustl.edu 37 19 3381814 3381814 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_205843.1 +1 validated p.H36 0.995 24 0% 56 46.4% - - - - - HMMPfam_NfI_DNAbd_pre-N,PatternScan_CTF_NFI_1 MFSD12 126321 genome.wustl.edu 37 19 3547482 3547482 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021731.2 -1 validated p.Y301H 1.000 28 0% 46 39.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter PIP5K1C 23396 genome.wustl.edu 37 19 3633472 3633472 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012398.1 -1 reviewed p.A656V 0.790 27 0% 57 36.8% - - benign(0.014) tolerated(0.1) neutral(0.287) NULL TJP3 27134 genome.wustl.edu 37 19 3747876 3747876 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014428.1 +1 provisional p.V836I 0.084 10 0% 42 40.5% - - benign(0.059) tolerated(0.58) neutral(0.009) NULL ZFR2 23217 genome.wustl.edu 37 19 3831313 3831313 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015174.1 -1 validated p.C280 0.989 5 0.000 12 0.333 - - - - - HMMSmart_SM00451,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355 ATCAY 85300 genome.wustl.edu 37 19 3907733 3907733 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033064.4 +1 reviewed p.D120 1.000 41 0% 50 16% - - - - - NULL ATCAY 85300 genome.wustl.edu 37 19 3909608 3909608 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033064.4 +1 reviewed p.D258N 1.000 46 0% 58 36.2% - - probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMSmart_SM00516,superfamily_CRAL/TRIO domain DAPK3 1613 genome.wustl.edu 37 19 3964286 3964286 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001348.1 -1 reviewed p.A170V 0.972 61 0% 113 32.7% - - benign(0.021) deleterious(0.02) neutral(0.384) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase PIAS4 51588 genome.wustl.edu 37 19 4013193 4013193 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015897.2 +1 provisional p.P100 0.001 21 0% 51 31.4% - - - - - NULL EBI3 10148 genome.wustl.edu 37 19 4229595 4229595 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005755.2 +1 reviewed p.P16 0.000 27 0% 36 30.6% - - - - - NULL CCDC94 55702 genome.wustl.edu 37 19 4258331 4258331 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018074.4 +1 provisional p.H166 0.727 13 0% 20 55% - - - - - HMMPfam_DUF572 STAP2 55620 genome.wustl.edu 37 19 4326963 4326963 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017720.2 -1 reviewed p.V269M 0.858 35 0% 77 31.2% - - benign(0.354) deleterious(0.04) neutral(0.461) NULL STAP2 55620 genome.wustl.edu 37 19 4327185 4327185 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017720.2 -1 reviewed p.F233 0.764 85 0% 150 36.7% - - - - - superfamily_SH2 domain HDGFRP2 84717 genome.wustl.edu 37 19 4494216 4494216 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001001520.1 +1 reviewed p.R323Q 1.000 7 0.000 11 0.364 - - unknown(0) deleterious(0.04) - NULL HDGFRP2 84717 genome.wustl.edu 37 19 4498361 4498361 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001001520.1 +1 reviewed p.K487N 0.985 24 0% 63 12.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PLIN4 729359 genome.wustl.edu 37 19 4504764 4504764 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080400.1 -1 provisional p.G1261S 0.000 15 0% 31 48.4% - - benign(0.001) tolerated(0.56) neutral(0.006) superfamily_Mannose-6-phosphate receptor binding protein 1 (Tip47) C-terminal domain LRG1 116844 genome.wustl.edu 37 19 4538614 4538614 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_052972.2 -1 validated p.L128M 0.323 26 0% 46 39.1% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058 SEMA6B 10501 genome.wustl.edu 37 19 4558054 4558054 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032108.2 -1 reviewed p.L77 0.996 36 0% 66 42.4% - - - - - HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain C19orf10 56005 genome.wustl.edu 37 19 4660692 4660692 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_019107.3 -1 validated p.A120T 0.996 66 0% 144 29.2% - - benign(0.028) deleterious(0.04) neutral(0.350) HMMPfam_UPF0556 LOC100133070 100133070 genome.wustl.edu 37 19 4793914 4793914 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_001719147.1 -1 model p.E54* 0.001 8 0.000 16 0.312 - - - - - NULL TICAM1 148022 genome.wustl.edu 37 19 4817843 4817843 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182919.2 -1 validated p.D183Y 0.004 38 0% 72 40.3% - - probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL KDM4B 23030 genome.wustl.edu 37 19 5137288 5137288 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015015.2 +1 validated p.R775H 0.960 37 0% 90 25.6% - - probably_damaging(0.991) tolerated(0.12) deleterious(0.705) HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger,HMMPfam_PHD KDM4B 23030 genome.wustl.edu 37 19 5137338 5137338 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015015.2 +1 validated p.A792T 0.992 24 0% 55 47.3% - - possibly_damaging(0.864) tolerated(0.08) deleterious(0.635) superfamily_FYVE/PHD zinc finger PTPRS 5802 genome.wustl.edu 37 19 5220059 5220059 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002850.3 -1 reviewed p.T1219M 0.000 31 0% 63 30.2% - - benign(0.249) deleterious(0.03) neutral(0.390) NULL PTPRS 5802 genome.wustl.edu 37 19 5231337 5231337 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002850.3 -1 reviewed p.V713 1.000 5 0.000 32 0.281 - - - - - superfamily_Fibronectin type III PTPRS 5802 genome.wustl.edu 37 19 5245887 5245887 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002850.3 -1 reviewed p.N296 0.888 42 0% 99 50.5% - - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin LONP1 9361 genome.wustl.edu 37 19 5713148 5713148 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004793.2 -1 reviewed p.R212I 1.000 58 0% 108 38% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_LON,HMMSmart_LON CATSPERD 257062 genome.wustl.edu 37 19 5733976 5733976 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152784.3 +1 validated p.S129Y 0.001 193 0% 204 30.4% - - probably_damaging(0.976) deleterious(0.04) deleterious(0.767) NULL PRR22 163154 genome.wustl.edu 37 19 5783661 5783661 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001134316.1 -1 validated p.T199 0.003 7 0.000 18 0.333 - - - - - NULL RANBP3 8498 genome.wustl.edu 37 19 5918573 5918573 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007322.2 -1 reviewed p.S469 0.643 78 0% 132 11.4% - - - - - HMMPfam_Ran_BP1,HMMSmart_SM00160,superfamily_PH domain-like RANBP3 8498 genome.wustl.edu 37 19 5957972 5957972 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007322.2 -1 reviewed p.I12T 1.000 162 0% 255 35.3% - - benign(0.031) deleterious(0) neutral(0.446) NULL GTF2F1 2962 genome.wustl.edu 37 19 6389522 6389522 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002096.2 -1 validated p.V87I 0.959 49 0% 75 33.3% - - benign(0) tolerated(0.7) neutral(0.002) HMMPfam_TFIIF_alpha,superfamily_Rap30/74 interaction domains SLC25A23 79085 genome.wustl.edu 37 19 6456476 6456476 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024103.2 -1 validated p.S146 0.956 86 0% 182 42.9% - - - - - superfamily_EF-hand DENND1C 79958 genome.wustl.edu 37 19 6467722 6467722 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024898.2 -1 validated p.Q733H 0.024 65 0% 119 13.4% - - possibly_damaging(0.496) deleterious(0) deleterious(0.610) NULL DENND1C 79958 genome.wustl.edu 37 19 6467843 6467843 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024898.2 -1 validated p.S693Y 0.001 73 0% 143 39.9% - - possibly_damaging(0.496) deleterious(0) deleterious(0.610) NULL DENND1C 79958 genome.wustl.edu 37 19 6477410 6477410 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024898.2 -1 validated p.Q142H 0.001 22 0% 37 18.9% - - benign(0.001) tolerated(0.39) neutral(0.016) HMMPfam_DENN,HMMSmart_DENN TUBB4A 10382 genome.wustl.edu 37 19 6496156 6496156 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006087.2 -1 provisional p.D118 0.998 78 0% 135 37% - - - - - HMMPfam_Tubulin,superfamily_Tubulin nucleotide-binding domain-like C3 718 genome.wustl.edu 37 19 6713510 6713510 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000064.2 -1 reviewed p.G262R 1.000 42 0% 107 37.4% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_A2M_N GPR108 56927 genome.wustl.edu 37 19 6731268 6731268 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080452.1 -1 provisional p.R459H 0.913 30 0% 69 37.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Lung_7-TM_R TRIP10 9322 genome.wustl.edu 37 19 6743776 6743776 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004240.2 +1 validated p.A191T 1.000 167 0% 277 11.6% - - probably_damaging(0.989) deleterious(0.01) deleterious(0.845) NULL VAV1 7409 genome.wustl.edu 37 19 6822480 6822480 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005428.2 +1 reviewed p.Q203 1.000 9 0.000 30 0.400 - - - - - HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain,superfamily_Calponin-homology EMR1 2015 genome.wustl.edu 37 19 6926430 6926430 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001974.3 +1 reviewed p.F680L 0.998 266 0% 178 35.4% - - probably_damaging(1) tolerated(0.15) deleterious(0.741) HMMPfam_7tm_2,superfamily_Family A G protein-coupled receptor-like INSR 3643 genome.wustl.edu 37 19 7125480 7125480 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000208.2 -1 reviewed p.T1024 0.998 55 0% 51 11.8% - - - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) INSR 3643 genome.wustl.edu 37 19 7168035 7168035 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000208.2 -1 reviewed p.P518 0.354 74 0% 64 15.6% - - - - - HMMSmart_SM00060,superfamily_Fibronectin type III ARHGEF18 23370 genome.wustl.edu 37 19 7534862 7534862 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001130955.1 +1 reviewed p.R1099H 0.984 24 0% 64 32.8% - - probably_damaging(1) deleterious(0.05) deleterious(0.845) NULL ZNF358 140467 genome.wustl.edu 37 19 7585704 7585704 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018083.4 +1 validated p.P526S 0.288 50 0% 108 30.6% - - probably_damaging(0.957) deleterious(0) deleterious(0.845) NULL MCOLN1 57192 genome.wustl.edu 37 19 7589892 7589892 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020533.2 +1 reviewed p.A26V 0.000 24 0% 42 40.5% - - benign(0) tolerated(0.45) neutral(0.012) NULL MCOLN1 57192 genome.wustl.edu 37 19 7591450 7591450 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000394321 +1 known p.R8H 0.179 78 0% 142 35.9% - - unknown(0) - - NULL PNPLA6 10908 genome.wustl.edu 37 19 7619128 7619128 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006702.4 +1 reviewed p.R774Q 1.000 71 1.4% 118 32.2% - - probably_damaging(0.963) tolerated(0.11) deleterious(0.677) NULL CAMSAP3 57662 genome.wustl.edu 37 19 7680153 7680153 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080429.2 +1 validated p.R946W 0.001 25 0% 47 27.7% - - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL STXBP2 6813 genome.wustl.edu 37 19 7704637 7704637 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006949.2 +1 reviewed p.R64W 0.998 107 0% 208 45.2% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Sec1,superfamily_Sec1/munc18-like (SM) proteins TRAPPC5 126003 genome.wustl.edu 37 19 7747497 7747497 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001042461.1 +1 validated p.R120C 0.991 14 0% 28 39.3% - - possibly_damaging(0.912) deleterious(0.01) deleterious(0.769) HMMPfam_TRAPP CD209 30835 genome.wustl.edu 37 19 7806216 7806216 + RNA SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NR_026692.1 -1 reviewed NULL 0.026 14 0% 19 31.6% - - - - - - CD209 30835 genome.wustl.edu 37 19 7806647 7806647 + RNA SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NR_026692.1 -1 reviewed NULL 1.000 71 0% 79 25.3% - - - - - - CD209 30835 genome.wustl.edu 37 19 7812204 7812204 + Nonsense_Mutation SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021155.3 -1 reviewed p.K32* 0.000 265 0% 230 29.1% - - - - - NULL LRRC8E 80131 genome.wustl.edu 37 19 7960528 7960528 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025061.3 +1 validated p.Q14* 1.000 54 0% 78 11.5% - - - - - NULL LRRC8E 80131 genome.wustl.edu 37 19 7963812 7963812 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025061.3 +1 validated p.F135 1.000 119 0% 182 34.6% - - - - - NULL LRRC8E 80131 genome.wustl.edu 37 19 7964131 7964131 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025061.3 +1 validated p.R242C 1.000 150 0% 227 39.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL FBN3 84467 genome.wustl.edu 37 19 8152964 8152964 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032447.3 -1 reviewed p.G2159D 1.000 81 0% 105 38.1% - - probably_damaging(0.978) tolerated(0.08) deleterious(0.720) HMMSmart_SM00179,HMMSmart_SM00181,PatternScan_EGF_2,HMMPfam_EGF_CA FBN3 84467 genome.wustl.edu 37 19 8181580 8181580 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032447.3 -1 reviewed p.T1230 0.854 40 0% 56 26.8% - - - - - HMMSmart_SM00179,HMMSmart_SM00181,PatternScan_EGF_2,HMMPfam_EGF_CA,superfamily_EGF/Laminin FBN3 84467 genome.wustl.edu 37 19 8182412 8182412 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032447.3 -1 reviewed p.I1133 0.542 16 0% 32 28.1% - - - - - PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin FBN3 84467 genome.wustl.edu 37 19 8182460 8182460 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032447.3 -1 reviewed p.C1117* 0.973 18 0% 30 36.7% - - - - - HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin FBN3 84467 genome.wustl.edu 37 19 8209801 8209801 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032447.3 -1 reviewed p.C167 0.933 30 0% 55 10.9% - - - - - HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_EGF/Laminin MARCH2 51257 genome.wustl.edu 37 19 8491581 8491581 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005415.1 +1 validated p.V89M 1.000 57 1.8% 80 31.2% - - benign(0.386) deleterious(0) deleterious(0.568) HMMSmart_RINGv,HMMPfam_zf-C3HC4,superfamily_SSF57850 MARCH2 51257 genome.wustl.edu 37 19 8503332 8503332 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005415.1 +1 validated p.R215C 0.995 29 0% 56 41.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL HNRNPM 4670 genome.wustl.edu 37 19 8551095 8551095 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005968.3 +1 validated p.A595T 0.400 21 0% 43 27.9% - - benign(0) tolerated(0.53) neutral(0.007) NULL PRAM1 84106 genome.wustl.edu 37 19 8563890 8563890 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032152.3 -1 reviewed p.A268T 0.000 33 0% 87 35.6% - - benign(0) tolerated(0.57) neutral(0.006) NULL MYO1F 4542 genome.wustl.edu 37 19 8616642 8616642 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012335.3 -1 validated p.S251 0.043 156 0.6% 272 39% - - - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases ADAMTS10 81794 genome.wustl.edu 37 19 8650067 8650067 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030957.2 -1 reviewed p.C997 1.000 6 0.000 10 0.800 - - - - - HMMSmart_TSP1,superfamily_TSP1 ADAMTS10 81794 genome.wustl.edu 37 19 8660663 8660663 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030957.2 -1 reviewed p.R488C 1.000 58 0% 88 27.3% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ADAMTS10 81794 genome.wustl.edu 37 19 8665907 8665907 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030957.2 -1 reviewed p.R239C 1.000 23 0% 31 16.1% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_Reprolysin,superfamily_SSF55486 ZNF558 148156 genome.wustl.edu 37 19 8931926 8931926 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144693.1 -1 provisional p.L59 0.843 287 0% 171 38.6% - - - - - HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) MUC16 94025 genome.wustl.edu 37 19 8962016 8962016 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024690.2 -1 validated p.A14454V 1.000 42 0% 28 35.7% - - benign(0.15) deleterious(0.03) neutral(0.378) NULL MUC16 94025 genome.wustl.edu 37 19 9048565 9048565 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024690.2 -1 validated p.S11022 0.001 232 0.4% 85 9.4% - - - - - NULL MUC16 94025 genome.wustl.edu 37 19 9050219 9050219 + Missense_Mutation SNP C C A rs147543535 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024690.2 -1 validated p.R10471I 0.000 595 0% 208 33.2% - - unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9059365 9059365 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024690.2 -1 validated p.E9361* 0.000 318 0% 122 34.4% - - - - - NULL MUC16 94025 genome.wustl.edu 37 19 9060254 9060254 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024690.2 -1 validated p.R9064 0.000 409 0% 124 28.2% - - - - - NULL MUC16 94025 genome.wustl.edu 37 19 9060935 9060935 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024690.2 -1 validated p.E8837D 0.000 265 0% 78 35.9% - - unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9063257 9063257 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024690.2 -1 validated p.T8063 0.001 282 0% 103 34% - - - - - NULL MUC16 94025 genome.wustl.edu 37 19 9063405 9063405 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024690.2 -1 validated p.D8014A 0.000 381 0% 124 37.1% - - unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9064399 9064399 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024690.2 -1 validated p.E7683* 0.000 257 0% 123 38.2% - - - - - NULL MUC16 94025 genome.wustl.edu 37 19 9065929 9065929 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024690.2 -1 validated p.E7173* 0.001 507 0% 198 36.9% - - - - - NULL MUC16 94025 genome.wustl.edu 37 19 9070600 9070600 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024690.2 -1 validated p.D5616N 0.001 213 0% 93 38.7% - - unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9071811 9071811 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024690.2 -1 validated p.S5212F 0.000 210 0% 105 28.6% - - unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9075393 9075393 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024690.2 -1 validated p.R4018K 0.000 131 0% 63 9.5% - - unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9085105 9085105 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024690.2 -1 validated p.I2237S 0.132 172 0% 101 36.6% - - unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9087398 9087398 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024690.2 -1 validated p.D1473N 0.004 169 0% 78 35.9% - - unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9088466 9088466 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024690.2 -1 validated p.E1117* 0.001 213 0% 89 32.6% - - - - - NULL ENSG00000188314 0 genome.wustl.edu 37 19 9346350 9346350 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000344049 +1 known p.F72L 0.097 94 0% 47 40.4% - - possibly_damaging(0.523) deleterious(0) deleterious(0.621) HMMPfam_7tm_1,superfamily_SSF81321 ZNF699 374879 genome.wustl.edu 37 19 9406690 9406690 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198535.1 -1 provisional p.A464S 0.000 154 0% 77 32.5% - - possibly_damaging(0.749) tolerated(0.75) neutral(0.277) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF266 10781 genome.wustl.edu 37 19 9524066 9524066 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006631.2 -1 validated p.R512Q 0.006 120 0.8% 65 38.5% - - probably_damaging(0.979) deleterious(0.01) deleterious(0.828) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF266 10781 genome.wustl.edu 37 19 9524830 9524830 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006631.2 -1 validated p.Q257 0.002 147 0% 102 11.8% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF560 147741 genome.wustl.edu 37 19 9577475 9577475 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152476.2 -1 validated p.D716E 0.030 158 0% 48 25% - - benign(0.009) tolerated(1) neutral(0.001) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF560 147741 genome.wustl.edu 37 19 9577542 9577542 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152476.2 -1 validated p.R694Q 0.000 100 0% 38 28.9% - - probably_damaging(0.987) tolerated(0.64) neutral(0.440) superfamily_SSF57667 ZNF560 147741 genome.wustl.edu 37 19 9578508 9578508 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152476.2 -1 validated p.G372E 0.807 346 0% 117 28.2% - - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) superfamily_SSF57667 ZNF560 147741 genome.wustl.edu 37 19 9583907 9583907 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152476.2 -1 validated p.I62 0.000 120 0% 65 38.5% - - - - - HMMSmart_KRAB,superfamily_Krueppel-associated_box FBXL12 54850 genome.wustl.edu 37 19 9921797 9921797 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017703.1 -1 provisional p.P252 0.008 62 0% 134 35.1% - - - - - superfamily_RNI-like RDH8 50700 genome.wustl.edu 37 19 10132278 10132278 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015725.2 +1 validated p.P263 0.990 76 0% 94 34% - - - - - superfamily_NAD(P)-bd C19orf66 55337 genome.wustl.edu 37 19 10197688 10197688 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018381.2 +1 validated p.F35 0.995 35 0% 57 38.6% - - - - - NULL C19orf66 55337 genome.wustl.edu 37 19 10197961 10197961 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018381.2 +1 validated p.N60 0.788 50 0% 99 27.3% - - - - - NULL ANGPTL6 83854 genome.wustl.edu 37 19 10205569 10205569 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031917.2 -1 validated p.V210M 0.536 59 0% 104 29.8% - - probably_damaging(0.99) tolerated(0.09) deleterious(0.738) NULL PPAN-P2RY11 692312 genome.wustl.edu 37 19 10221647 10221647 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001040664.1 +1 validated p.R410W 0.050 27 0% 53 49.1% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL DNMT1 1786 genome.wustl.edu 37 19 10244943 10244943 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001130823.1 -1 reviewed p.G1605D 1.000 42 0% 72 38.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DNA_methylase,PatternScan_C5_MTASE_2,superfamily_S-adenosyl-L-methionine-dependent methyltransferases DNMT1 1786 genome.wustl.edu 37 19 10265724 10265724 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001130823.1 -1 reviewed p.E501K 0.999 70 0% 83 36.1% - - probably_damaging(0.973) deleterious(0.03) deleterious(0.779) NULL DNMT1 1786 genome.wustl.edu 37 19 10270567 10270567 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001130823.1 -1 reviewed p.Q374R 1.000 157 0% 203 10.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL DNMT1 1786 genome.wustl.edu 37 19 10287992 10287992 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001130823.1 -1 reviewed p.T182I 1.000 350 0% 287 30.3% - - benign(0.001) deleterious(0.04) neutral(0.349) NULL DNMT1 1786 genome.wustl.edu 37 19 10291102 10291102 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001130823.1 -1 reviewed p.A123 0.764 144 0% 151 41.1% - - - - - NULL S1PR2 9294 genome.wustl.edu 37 19 10334704 10334704 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004230.3 -1 validated p.R293Q 1.000 39 0% 73 35.6% - - benign(0.151) deleterious(0.02) neutral(0.397) superfamily_SSF81321 MRPL4 51073 genome.wustl.edu 37 19 10363313 10363313 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015956.2 +1 reviewed p.G71C 0.659 12 0% 28 28.6% - - possibly_damaging(0.887) deleterious(0.04) deleterious(0.696) superfamily_Ribosomal protein L4 KEAP1 9817 genome.wustl.edu 37 19 10602601 10602601 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012289.3 -1 reviewed p.R326H 1.000 11 0% 26 23.1% - - benign(0.003) tolerated(0.09) neutral(0.296) HMMPfam_Kelch_1,superfamily_Gal_oxid_central KEAP1 9817 genome.wustl.edu 37 19 10610427 10610427 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012289.3 -1 reviewed p.A95T 1.000 28 0% 57 33.3% - - benign(0.076) tolerated(0.09) neutral(0.302) HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB KEAP1 9817 genome.wustl.edu 37 19 10610561 10610561 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012289.3 -1 reviewed p.R50H 1.000 12 0% 23 21.7% - - probably_damaging(0.999) tolerated(0.14) deleterious(0.740) NULL S1PR5 53637 genome.wustl.edu 37 19 10625345 10625345 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030760.4 -1 validated p.V115I 1.000 8 0.000 16 0.438 - - possibly_damaging(0.893) tolerated(0.24) neutral(0.389) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like KRI1 65095 genome.wustl.edu 37 19 10670065 10670065 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_023008.3 -1 validated p.F394 0.949 82 0% 138 40.6% - - - - - HMMPfam_Kri1 AP1M2 10053 genome.wustl.edu 37 19 10689640 10689640 + Splice_Site SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005498.4 -1 reviewed e8-1 1.000 88 0% 110 30% - - - - - - SLC44A2 57153 genome.wustl.edu 37 19 10736939 10736939 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020428.3 +1 validated p.Q16H 0.998 103 0% 217 35.9% - - benign(0.002) tolerated(0.22) neutral(0.042) NULL ILF3 3609 genome.wustl.edu 37 19 10794618 10794618 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017620.2 +1 reviewed p.Y681 0.813 135 0% 240 13.3% - - - - - NULL ILF3 3609 genome.wustl.edu 37 19 10798323 10798323 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017620.2 +1 reviewed p.S791 0.172 21 0% 49 30.6% - - - - - NULL QTRT1 81890 genome.wustl.edu 37 19 10822957 10822957 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031209.2 +1 validated p.R256Q 1.000 25 0% 52 21.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TGT,superfamily_tRNA_ribo_trans SMARCA4 6597 genome.wustl.edu 37 19 11118598 11118598 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001128849.1 +1 reviewed p.P674 0.423 56 0% 61 41% - - - - - superfamily_SSF52540 SMARCA4 6597 genome.wustl.edu 37 19 11132466 11132466 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001128849.1 +1 reviewed p.T894 0.343 41 0% 72 38.9% - - - - - HMMPfam_SNF2_N,HMMSmart_DEXDc,superfamily_SSF52540 SMARCA4 6597 genome.wustl.edu 37 19 11138618 11138618 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001128849.1 +1 reviewed p.R1125M 1.000 109 0% 166 44% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Helicase_C,HMMSmart_HELICc,superfamily_SSF52540 SMARCA4 6597 genome.wustl.edu 37 19 11150219 11150219 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001128849.1 +1 reviewed p.R1419H 0.010 84 0% 195 45.6% - - benign(0.01) tolerated(0.16) neutral(0.060) NULL KANK2 25959 genome.wustl.edu 37 19 11289065 11289065 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001136191.2 -1 validated p.P492 0.000 7 0.000 25 0.320 - - - - - NULL DOCK6 57572 genome.wustl.edu 37 19 11347491 11347491 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020812.2 -1 validated p.A713V 0.997 21 0% 42 45.2% - - benign(0.084) tolerated(0.11) neutral(0.278) NULL CCDC159 126075 genome.wustl.edu 37 19 11462790 11462790 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080503.2 +1 validated p.T183M 0.680 152 0% 301 34.6% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL RGL3 57139 genome.wustl.edu 37 19 11517490 11517490 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001035223.2 -1 validated p.A230T 0.000 25 0% 49 16.3% - - benign(0.001) tolerated(0.19) neutral(0.050) superfamily_Ras GEF ZNF823 55552 genome.wustl.edu 37 19 11832890 11832890 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080493.2 -1 validated p.S487P 0.000 151 0% 96 34.4% - - benign(0) tolerated(0.22) neutral(0.042) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF491 126069 genome.wustl.edu 37 19 11917167 11917167 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152356.3 +1 validated p.C133 0.157 183 0% 146 11% - - - - - PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF700 90592 genome.wustl.edu 37 19 12059714 12059714 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144566.1 +1 provisional p.S292F 0.000 142 0% 87 33.3% - - possibly_damaging(0.804) tolerated(0.34) neutral(0.326) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF878 729747 genome.wustl.edu 37 19 12155813 12155813 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080404.1 -1 inferred p.R182G 0.754 190 0% 214 47.7% - - probably_damaging(0.997) tolerated(0.16) deleterious(0.526) superfamily_C2H2 and C2HC zinc fingers ZNF878 729747 genome.wustl.edu 37 19 12157538 12157538 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080404.1 -1 inferred p.T61I 0.979 300 0% 321 32.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF442 79973 genome.wustl.edu 37 19 12460540 12460540 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030824.2 -1 validated p.R620M 0.000 169 0% 77 37.7% - - possibly_damaging(0.525) deleterious(0) deleterious(0.621) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF442 79973 genome.wustl.edu 37 19 12461725 12461725 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030824.2 -1 validated p.R225H 0.000 291 0% 116 43.1% - - benign(0.008) tolerated(0.7) neutral(0.002) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF799 90576 genome.wustl.edu 37 19 12502452 12502452 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080821.1 -1 validated p.E254* 0.000 272 0% 134 35.8% - - - - - HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF709 163051 genome.wustl.edu 37 19 12576018 12576018 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152601.3 -1 validated p.R240* 0.000 125 0% 153 34% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF709 163051 genome.wustl.edu 37 19 12577665 12577665 + Splice_Site SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152601.3 -1 validated e2-1 0.997 281 0% 373 30% - - - - - - BEST2 54831 genome.wustl.edu 37 19 12866525 12866525 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017682.2 +1 reviewed p.L271M 1.000 150 0% 277 38.6% - - possibly_damaging(0.555) tolerated(0.06) deleterious(0.512) HMMPfam_Bestrophin HOOK2 29911 genome.wustl.edu 37 19 12878663 12878663 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013312.2 -1 validated p.A424T 0.947 27 0% 43 30.2% - - benign(0.008) tolerated(0.6) neutral(0.004) HMMPfam_HOOK MAST1 22983 genome.wustl.edu 37 19 12980050 12980050 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014975.2 +1 validated p.R982C 1.000 60 0% 119 38.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_PDZ,superfamily_PDZ GADD45GIP1 90480 genome.wustl.edu 37 19 13065170 13065170 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_052850.2 -1 provisional p.R174H 1.000 40 0% 90 40% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_CR6_interact NACC1 112939 genome.wustl.edu 37 19 13249014 13249014 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_052876.2 +1 validated p.A460T 1.000 46 0% 85 43.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_BEN CACNA1A 773 genome.wustl.edu 37 19 13340964 13340964 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001127222.1 -1 reviewed p.S1820 0.981 175 0% 256 30.9% - - - - - NULL CCDC130 81576 genome.wustl.edu 37 19 13869787 13869787 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030818.2 +1 provisional p.R121 1.000 9 0.000 24 0.375 - - - - - HMMPfam_DUF572 MRI1 84245 genome.wustl.edu 37 19 13879811 13879811 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001031727.2 +1 validated p.R300* 1.000 20 0% 66 40.9% - - - - - HMMPfam_IF-2B,superfamily_NagB/RpiA/CoA transferase-like DCAF15 90379 genome.wustl.edu 37 19 14071290 14071290 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138353.2 +1 provisional p.S549G 1.000 56 0% 115 40.9% - - probably_damaging(0.971) deleterious(0) deleterious(0.857) NULL LPHN1 22859 genome.wustl.edu 37 19 14273440 14273440 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001008701.2 -1 reviewed p.F396 0.850 44 0% 75 45.3% - - - - - HMMPfam_OLF,HMMSmart_SM00284 ENSG00000248045 0 genome.wustl.edu 37 19 14281373 14281373 + RNA SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000498856 +1 novel NULL 0.000 21 0% 38 23.7% - - - - - - CD97 976 genome.wustl.edu 37 19 14499561 14499561 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_078481.2 +1 reviewed p.A41T 0.002 117 0% 168 34.5% - - benign(0.063) tolerated(0.26) neutral(0.038) HMMSmart_SM00181 EMR2 30817 genome.wustl.edu 37 19 14876366 14876366 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013447.2 -1 reviewed p.T266 0.994 233 0.4% 337 18.4% - - - - - NULL OR7A17 26333 genome.wustl.edu 37 19 14991851 14991851 + Missense_Mutation SNP A A T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030901.1 -1 provisional p.L106H 0.000 209 0% 79 41.8% - - benign(0.107) deleterious(0.03) neutral(0.373) HMMPfam_7tm_1,superfamily_SSF81321 SYDE1 85360 genome.wustl.edu 37 19 15224525 15224525 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033025.4 +1 provisional p.G653 0.985 22 0% 50 44% - - - - - NULL NOTCH3 4854 genome.wustl.edu 37 19 15271802 15271802 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000435.2 -1 reviewed p.A2213T 0.177 6 0.000 26 0.423 - - benign(0.001) tolerated(0.27) neutral(0.034) NULL NOTCH3 4854 genome.wustl.edu 37 19 15276621 15276621 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000435.2 -1 reviewed p.A1882T 1.000 17 0% 44 36.4% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat NOTCH3 4854 genome.wustl.edu 37 19 15299983 15299983 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000435.2 -1 reviewed p.A399T 0.998 25 0% 45 33.3% - - probably_damaging(1) tolerated(0.3) deleterious(0.528) HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin BRD4 23476 genome.wustl.edu 37 19 15366237 15366237 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_058243.2 -1 reviewed p.R640W 0.586 58 0% 100 32% - - probably_damaging(0.982) deleterious(0) deleterious(0.871) NULL BRD4 23476 genome.wustl.edu 37 19 15367969 15367969 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_058243.2 -1 reviewed p.R453C 1.000 16 0% 20 25% - - possibly_damaging(0.891) tolerated(0.1) deleterious(0.637) HMMSmart_SM00297,superfamily_Bromodomain AKAP8L 26993 genome.wustl.edu 37 19 15512365 15512365 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014371.2 -1 validated p.D138N 1.000 34 0% 64 46.9% - - probably_damaging(0.981) tolerated(0.59) neutral(0.430) NULL AKAP8L 26993 genome.wustl.edu 37 19 15521386 15521386 + Missense_Mutation SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014371.2 -1 validated p.E11D 1.000 129 0% 108 33.3% - - possibly_damaging(0.868) deleterious(0) deleterious(0.782) NULL WIZ 58525 genome.wustl.edu 37 19 15535838 15535838 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021241.2 -1 validated p.E539K 1.000 6 0.000 10 0.500 - - unknown(0) deleterious(0.01) - NULL WIZ 58525 genome.wustl.edu 37 19 15538304 15538304 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021241.2 -1 validated p.F190 1.000 14 0% 25 48% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2 WIZ 58525 genome.wustl.edu 37 19 15559017 15559017 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021241.2 -1 validated p.A34 0.959 21 0% 48 52.1% - - - - - NULL RASAL3 64926 genome.wustl.edu 37 19 15571019 15571019 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022904.1 -1 validated p.R219 0.798 196 0% 324 35.5% - - - - - NULL PGLYRP2 114770 genome.wustl.edu 37 19 15586706 15586707 + Frame_Shift_Ins INS - - A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_052890.3 -1 validated p.T258fs 0.879:0.985 - - - - - - - - - NULL PGLYRP2 114770 genome.wustl.edu 37 19 15586938 15586938 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_052890.3 -1 validated p.T181 0.000 78 0% 85 25.9% - - - - - NULL CYP4F22 126410 genome.wustl.edu 37 19 15648394 15648394 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173483.3 +1 reviewed p.R157H 1.000 83 0% 75 13.3% - - possibly_damaging(0.644) deleterious(0.02) deleterious(0.609) HMMPfam_p450,superfamily_Cytochrome_P450 LOC100287986 100287986 genome.wustl.edu 37 19 15687490 15687490 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002343618.1 -1 model p.S698P 0.948 34 0% 25 40% - - - - - NULL CYP4F3 4051 genome.wustl.edu 37 19 15763421 15763421 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000896.2 +1 reviewed p.E321* 1.000 207 0% 180 36.1% - - - - - HMMPfam_p450,superfamily_Cytochrome_P450 CYP4F3 4051 genome.wustl.edu 37 19 15770177 15770177 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000896.2 +1 reviewed p.R515 0.997 40 0% 65 35.4% - - - - - HMMPfam_p450,superfamily_Cytochrome_P450 CYP4F12 66002 genome.wustl.edu 37 19 15784393 15784393 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_023944.2 +1 reviewed p.P18 0.009 49 0% 58 43.1% - - - - - NULL CYP4F12 66002 genome.wustl.edu 37 19 15807844 15807844 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_023944.2 +1 reviewed p.A508 0.136 44 0% 54 35.2% - - - - - HMMPfam_p450,superfamily_Cytochrome P450 OR10H5 284433 genome.wustl.edu 37 19 15905333 15905333 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001004466.1 +1 provisional p.V159M 0.122 185 0% 214 32.7% - - probably_damaging(0.976) tolerated(0.26) neutral(0.452) HMMPfam_7tm_1,superfamily_SSF81321 ZNF861P 100302737 genome.wustl.edu 37 19 15934568 15934568 + Splice_Site SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000292633 -1 known e1+2 0.441 167 0% 68 25% - - - - - - CYP4F2 8529 genome.wustl.edu 37 19 15989624 15989624 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001082.3 -1 reviewed p.R507H 0.992 41 0% 71 28.2% - - probably_damaging(0.981) deleterious(0.01) deleterious(0.831) HMMPfam_p450,superfamily_Cytochrome_P450 CYP4F11 57834 genome.wustl.edu 37 19 16035674 16035674 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001128932.1 -1 reviewed p.A182S 0.000 99 0% 100 35% - - benign(0.002) tolerated(0.36) neutral(0.020) HMMPfam_p450,superfamily_Cytochrome P450 OR10H4 126541 genome.wustl.edu 37 19 16060269 16060269 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001004465.1 +1 validated p.A151D 0.016 351 0% 130 20.8% - - probably_damaging(0.981) tolerated(0.14) deleterious(0.675) HMMPfam_7tm_1,superfamily_SSF81321 TPM4 7171 genome.wustl.edu 37 19 16192765 16192765 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001145160.1 +1 reviewed p.V95I 0.996 48 0% 50 10% - - possibly_damaging(0.524) tolerated(0.15) neutral(0.417) HMMPfam_Tropomyosin TPM4 7171 genome.wustl.edu 37 19 16198909 16198909 + Splice_Site SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001145160.1 +1 reviewed e5+2 1.000 130 0% 178 34.3% - - - - - - CIB3 117286 genome.wustl.edu 37 19 16278952 16278952 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_054113.2 -1 reviewed p.I114M 0.945 48 0% 65 33.8% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_EF-hand AP1M1 8907 genome.wustl.edu 37 19 16319881 16319881 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001130524.1 +1 reviewed p.P147T 1.000 103 0% 124 33.1% - - benign(0) tolerated(0.22) neutral(0.042) NULL AP1M1 8907 genome.wustl.edu 37 19 16338361 16338361 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001130524.1 +1 reviewed p.G238S 0.999 41 0% 99 46.5% - - benign(0) tolerated(0.87) neutral(0.001) HMMPfam_Adap_comp_sub,superfamily_AP50 AP1M1 8907 genome.wustl.edu 37 19 16344306 16344306 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001130524.1 +1 reviewed p.G362 0.104 21 0% 43 23.3% - - - - - HMMPfam_Adap_comp_sub,superfamily_AP50 AP1M1 8907 genome.wustl.edu 37 19 16345014 16345014 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001130524.1 +1 reviewed p.R405H 1.000 45 0% 89 38.2% - - probably_damaging(0.961) deleterious(0.01) deleterious(0.810) HMMPfam_Adap_comp_sub,superfamily_AP50 EPS15L1 58513 genome.wustl.edu 37 19 16539558 16539558 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021235.1 -1 provisional p.S171 1.000 64 0% 68 36.8% - - - - - HMMSmart_EH,HMMSmart_EFh,HMMPfam_efhand,superfamily_SSF47473 CALR3 125972 genome.wustl.edu 37 19 16594828 16594828 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_145046.3 -1 validated p.E197D 1.000 255 0% 290 33.1% - - benign(0.023) tolerated(0.07) neutral(0.320) HMMPfam_Calreticulin,superfamily_ConA_like_lec_gl C19orf44 84167 genome.wustl.edu 37 19 16611749 16611749 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032207.2 +1 validated p.R49I 0.998 68 0% 78 30.8% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CHERP 10523 genome.wustl.edu 37 19 16631686 16631686 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006387.5 -1 validated p.R718* 1.000 72 0% 130 35.4% - - - - - NULL MED26 9441 genome.wustl.edu 37 19 16688320 16688320 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004831.3 -1 validated p.G107 0.637 14 0% 49 44.9% - - - - - NULL SIN3B 23309 genome.wustl.edu 37 19 16952773 16952773 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015260.1 +1 provisional p.T192 0.243 38 0% 57 35.1% - - - - - HMMPfam_PAH,superfamily_PAH2 domain SIN3B 23309 genome.wustl.edu 37 19 16973291 16973291 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015260.1 +1 provisional p.R396H 1.000 59 0% 107 29.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HDAC_interact,HMMSmart_SM00761 SIN3B 23309 genome.wustl.edu 37 19 16977266 16977266 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015260.1 +1 provisional p.L601F 1.000 35 0% 61 54.1% - - probably_damaging(0.964) deleterious(0.01) deleterious(0.812) NULL SIN3B 23309 genome.wustl.edu 37 19 16989037 16989037 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015260.1 +1 provisional p.R1032W 0.999 26 0% 62 38.7% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL MYO9B 4650 genome.wustl.edu 37 19 17283598 17283598 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004145.3 +1 reviewed p.R656W 1.000 16 0% 53 22.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYO9B 4650 genome.wustl.edu 37 19 17317184 17317184 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004145.3 +1 reviewed p.V1795 0.000 12 0% 39 28.2% - - - - - HMMPfam_RhoGAP,HMMSmart_RhoGAP,superfamily_Rho_GAP USHBP1 83878 genome.wustl.edu 37 19 17369128 17369128 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031941.3 -1 validated p.D371 0.000 25 0% 71 38% - - - - - NULL PLVAP 83483 genome.wustl.edu 37 19 17487813 17487813 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031310.1 -1 provisional p.K95N 0.541 113 0% 166 10.8% - - possibly_damaging(0.884) deleterious(0) deleterious(0.789) HMMPfam_PV-1 PLVAP 83483 genome.wustl.edu 37 19 17487898 17487898 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031310.1 -1 provisional p.A67D 0.986 86 0% 136 11.8% - - probably_damaging(1) tolerated(0.11) deleterious(0.772) HMMPfam_PV-1 BST2 684 genome.wustl.edu 37 19 17514945 17514945 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004335.2 -1 reviewed p.R136* 0.000 57 0% 72 40.3% - - - - - NULL BST2 684 genome.wustl.edu 37 19 17516282 17516282 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004335.2 -1 reviewed p.V35M 0.000 101 0% 98 26.5% - - probably_damaging(0.982) tolerated(0.08) deleterious(0.726) NULL SLC27A1 376497 genome.wustl.edu 37 19 17611569 17611569 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198580.1 +1 provisional p.R507H 0.998 57 0% 100 37% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AMP-binding,superfamily_SSF56801 GLT25D1 79709 genome.wustl.edu 37 19 17691611 17691611 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024656.2 +1 provisional p.V500M 0.982 47 0% 70 35.7% - - benign(0.027) tolerated(0.15) neutral(0.242) HMMPfam_Glyco_transf_25 MAP1S 55201 genome.wustl.edu 37 19 17838478 17838478 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018174.4 +1 validated p.S762I 0.049 9 0.000 21 0.429 - - benign(0.048) tolerated(0.24) neutral(0.041) NULL JAK3 3718 genome.wustl.edu 37 19 17937711 17937711 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000215.3 -1 reviewed p.E1072 0.998 34 0% 70 42.9% - - - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) JAK3 3718 genome.wustl.edu 37 19 17946813 17946813 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000215.3 -1 reviewed p.L612 0.999 73 0% 116 10.3% - - - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) JAK3 3718 genome.wustl.edu 37 19 17952490 17952490 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000215.3 -1 reviewed p.H315Y 1.000 39 0% 78 44.9% - - possibly_damaging(0.811) tolerated(0.1) deleterious(0.592) NULL RPL18A 6142 genome.wustl.edu 37 19 17972175 17972175 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000980.2 +1 reviewed p.R31Q 0.999 67 0% 139 31.7% - - benign(0.026) tolerated(0.12) neutral(0.262) HMMPfam_Ribosomal_L18ae KCNN1 3780 genome.wustl.edu 37 19 18096188 18096188 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002248.3 +1 reviewed p.L329I 1.000 110 0% 168 33.9% - - possibly_damaging(0.919) deleterious(0.01) deleterious(0.775) HMMPfam_Ion_trans_2,superfamily_Voltage-gated potassium channels ARRDC2 27106 genome.wustl.edu 37 19 18119524 18119524 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015683.1 +1 validated p.T93 0.005 29 3.4% 64 48.4% - - - - - HMMPfam_Arrestin_N,superfamily_E set domains IL12RB1 3594 genome.wustl.edu 37 19 18173009 18173009 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005535.1 -1 reviewed p.G566D 0.290 65 0% 115 40.9% - - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL KIAA1683 80726 genome.wustl.edu 37 19 18376914 18376914 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001145304.1 -1 validated p.T479I 0.001 156 0% 313 33.2% - - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL KIAA1683 80726 genome.wustl.edu 37 19 18377624 18377624 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001145304.1 -1 validated p.T242 0.000 86 0% 149 16.8% - - - - - NULL LRRC25 126364 genome.wustl.edu 37 19 18502932 18502932 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_145256.2 -1 validated p.A261 0.000 75 0% 111 36% - - - - - NULL ISYNA1 51477 genome.wustl.edu 37 19 18547671 18547671 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016368.4 -1 validated p.S144 0.746 6 0.000 24 0.250 - - - - - HMMPfam_NAD_binding_5,superfamily_NAD(P)-binding Rossmann-fold domains ELL 8178 genome.wustl.edu 37 19 18557221 18557221 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006532.3 -1 validated p.S534 0.811 30 0% 62 22.6% - - - - - HMMPfam_Occludin_ELL FKBP8 23770 genome.wustl.edu 37 19 18643066 18643066 + Splice_Site SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012181.3 -1 reviewed e8-1 1.000 48 0% 88 37.5% - - - - - - CRTC1 23373 genome.wustl.edu 37 19 18885715 18885715 + Silent SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001098482.1 +1 validated p.T493 0.979 34 0% 100 33% - - - - - NULL UPF1 5976 genome.wustl.edu 37 19 18967089 18967089 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002911.3 +1 reviewed p.A602T 0.988 21 0% 67 25.4% - - benign(0.018) tolerated(0.32) neutral(0.025) superfamily_SSF52540 NCAN 1463 genome.wustl.edu 37 19 19329873 19329873 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004386.2 +1 validated p.R75W 0.998 20 0% 31 41.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_IG,superfamily_SSF48726 NCAN 1463 genome.wustl.edu 37 19 19351488 19351488 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004386.2 +1 validated p.T1162 0.697 47 0% 56 17.9% - - - - - HMMPfam_Lectin_C,HMMSmart_CLECT,superfamily_C-type_lectin_fold HAPLN4 404037 genome.wustl.edu 37 19 19371649 19371649 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_023002.2 -1 validated p.A153S 0.998 22 0% 44 29.5% - - benign(0.001) tolerated(1) - HMMSmart_SM00409,superfamily_Immunoglobulin TM6SF2 53345 genome.wustl.edu 37 19 19380936 19380936 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000431465 -1 known p.V172G 0.000 19 0% 32 50% - - unknown(0) - - NULL SUGP1 57794 genome.wustl.edu 37 19 19416873 19416873 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_172231.2 -1 validated p.S108N 0.587 7 0.000 19 0.316 - - probably_damaging(0.955) tolerated(0.24) neutral(0.436) NULL TSSK6 83983 genome.wustl.edu 37 19 19625834 19625834 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032037.2 -1 validated p.D135N 1.000 21 0% 17 52.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CILP2 148113 genome.wustl.edu 37 19 19653420 19653420 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153221.2 +1 validated p.G277R 0.124 40 0% 83 32.5% - - benign(0.006) tolerated(0.28) neutral(0.032) superfamily_CarboxypepD_reg CILP2 148113 genome.wustl.edu 37 19 19656594 19656594 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153221.2 +1 validated p.C1080 1.000 16 0% 27 55.6% - - - - - NULL ZNF14 7561 genome.wustl.edu 37 19 19823098 19823098 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021030.2 -1 reviewed p.G331E 0.893 83 0% 29 20.7% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_SSF57667 ZNF253 56242 genome.wustl.edu 37 19 20002480 20002480 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021047.2 +1 provisional p.E142* 0.021 237 0% 85 41.2% - - - - - superfamily_C2H2 and C2HC zinc fingers ZNF90 7643 genome.wustl.edu 37 19 20228736 20228736 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007138.1 +1 validated p.V125L 0.003 312 0% 141 34% - - benign(0.035) tolerated(0.55) neutral(0.009) NULL ZNF90 7643 genome.wustl.edu 37 19 20229797 20229797 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007138.1 +1 validated p.E478D 1.000 132 0% 80 38.8% - - benign(0.183) deleterious(0.04) neutral(0.366) superfamily_SSF57667 ZNF66P 7617 genome.wustl.edu 37 19 20989236 20989236 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000425625 +1 known p.R323I 0.981 76 0% 21 42.9% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF430 80264 genome.wustl.edu 37 19 21240040 21240040 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025189.3 +1 validated p.R309I 0.837 42 0% 38 28.9% - - benign(0.001) tolerated(0.27) neutral(0.034) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF708 7562 genome.wustl.edu 37 19 21476838 21476838 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021269.2 -1 validated p.C310 0.344 60 0% 30 33.3% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF738 148203 genome.wustl.edu 37 19 21558075 21558075 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000311015 +1 known p.F44L 0.995 265 0% 100 41% - - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box ZNF429 353088 genome.wustl.edu 37 19 21719685 21719685 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001001415.2 +1 provisional p.R277I 1.000 68 0% 46 32.6% - - benign(0.273) tolerated(0.29) neutral(0.058) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF429 353088 genome.wustl.edu 37 19 21719752 21719752 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001001415.2 +1 provisional p.T299 0.000 58 0% 37 37.8% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF43 7594 genome.wustl.edu 37 19 21991777 21991777 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003423.2 -1 validated p.F354L 0.001 112 0% 28 14.3% - - benign(0.001) tolerated(0.61) neutral(0.004) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF43 7594 genome.wustl.edu 37 19 21992456 21992456 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003423.2 -1 validated p.R128K 0.006 163 0% 75 12% - - benign(0.001) tolerated(1) - NULL ZNF43 7594 genome.wustl.edu 37 19 21992577 21992577 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003423.2 -1 validated p.P88S 0.038 92 0% 39 41% - - probably_damaging(0.988) tolerated(0.14) deleterious(0.687) NULL ZNF208 7757 genome.wustl.edu 37 19 22154882 22154882 + Missense_Mutation SNP A A T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007153.3 -1 provisional p.F857Y 0.000 136 0% 18 27.8% - - probably_damaging(0.98) tolerated(1) neutral(0.424) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF208 7757 genome.wustl.edu 37 19 22157270 22157270 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007153.3 -1 provisional p.S189Y 0.000 283 0% 44 31.8% - - possibly_damaging(0.707) tolerated(0.06) deleterious(0.578) NULL ZNF676 163223 genome.wustl.edu 37 19 22363360 22363360 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001001411.2 -1 provisional p.H387N 0.998 158 0% 36 16.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 LOC100130518 100130518 genome.wustl.edu 37 19 22486659 22486659 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_001719773.2 +1 model p.E72* 0.026 250 0% 85 28.2% - - - - - HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) LOC100287226 100287226 genome.wustl.edu 37 19 22498162 22498162 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002343636.1 +1 model p.A515E 0.092 67 0% 25 36% - - possibly_damaging(0.832) tolerated(0.3) neutral(0.346) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF98 148198 genome.wustl.edu 37 19 22574844 22574844 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001098626.1 -1 validated p.R398I 1.000 125 0% 53 18.9% - - benign(0.001) tolerated(0.18) neutral(0.056) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ENSG00000235276 0 genome.wustl.edu 37 19 22782564 22782564 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000421840 +1 known p.E54D 1.000 35 0% 33 27.3% - - - - - NULL ENSG00000213974 0 genome.wustl.edu 37 19 22785181 22785181 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000397112 +1 known p.R42H 0.001 8 0.000 13 0.308 - - - - - NULL ZNF492 57615 genome.wustl.edu 37 19 22847205 22847205 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020855.2 +1 validated p.R245I 0.956 120 0% 37 56.8% - - benign(0.004) tolerated(0.28) neutral(0.032) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF99 7652 genome.wustl.edu 37 19 22940896 22940896 + Missense_Mutation SNP G G T rs79080989 TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080409.1 -1 provisional p.F514L 0.000 76 0% 28 42.9% - - possibly_damaging(0.58) tolerated(0.68) neutral(0.201) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF91 7644 genome.wustl.edu 37 19 23542324 23542324 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003430.2 -1 validated p.K1153E 0.928 91 0% 96 32.3% - - possibly_damaging(0.892) tolerated(0.34) neutral(0.374) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF91 7644 genome.wustl.edu 37 19 23544016 23544016 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003430.2 -1 validated p.L589I 0.000 84 0% 48 47.9% - - probably_damaging(0.96) deleterious(0.01) deleterious(0.808) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF91 7644 genome.wustl.edu 37 19 23557536 23557536 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003430.2 -1 validated p.E21* 0.449 275 0% 219 33.8% - - - - - HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF675 171392 genome.wustl.edu 37 19 23837076 23837076 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138330.2 -1 validated p.R220I 1.000 112 0% 42 42.9% - - benign(0.001) tolerated(0.08) neutral(0.300) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers RPSAP58 388524 genome.wustl.edu 37 19 24010582 24010582 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000354585 +1 known p.P207S 1.000 60 0% 73 37% - - probably_damaging(0.956) deleterious(0) deleterious(0.844) NULL ENSG00000104777 0 genome.wustl.edu 37 19 24140678 24140678 + RNA SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000300996 -1 known NULL 0.042 58 0% 50 42% - - - - - - VSTM2B 342865 genome.wustl.edu 37 19 30054821 30054821 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000335523 +1 known p.R280C 0.087 115 0% 120 37.5% - - unknown(0) tolerated(0.16) - NULL URI1 8725 genome.wustl.edu 37 19 30477300 30477300 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003796.2 +1 reviewed p.G115C 0.428 138 0% 85 40% - - probably_damaging(0.989) deleterious(0.01) deleterious(0.845) HMMPfam_Prefoldin,superfamily_Prefoldin ZNF536 9745 genome.wustl.edu 37 19 30935740 30935740 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014717.1 +1 provisional p.A424D 1.000 10 0% 21 61.9% - - probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL ZNF536 9745 genome.wustl.edu 37 19 31040309 31040309 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014717.1 +1 provisional p.P1261 0.681 14 0% 21 23.8% - - - - - NULL TSHZ3 57616 genome.wustl.edu 37 19 31767495 31767495 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020856.2 -1 validated p.P1068 0.013 219 0% 178 37.1% - - - - - NULL TSHZ3 57616 genome.wustl.edu 37 19 31768294 31768294 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020856.2 -1 validated p.S802F 1.000 168 0% 182 11% - - benign(0.256) tolerated(0.19) neutral(0.076) NULL TSHZ3 57616 genome.wustl.edu 37 19 31769346 31769346 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020856.2 -1 validated p.T451 0.021 147 0% 178 38.8% - - - - - NULL TSHZ3 57616 genome.wustl.edu 37 19 31769786 31769786 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020856.2 -1 validated p.L305M 1.000 162 0% 185 40% - - probably_damaging(0.986) deleterious(0) deleterious(0.879) NULL ZNF507 22847 genome.wustl.edu 37 19 32843945 32843945 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001136156.1 +1 validated p.R70H 1.000 99 0% 94 36.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ANKRD27 84079 genome.wustl.edu 37 19 33106671 33106671 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032139.2 -1 validated p.E690K 1.000 43 0% 88 33% - - probably_damaging(0.999) tolerated(0.35) deleterious(0.511) HMMPfam_Ank,superfamily_ANK TDRD12 91646 genome.wustl.edu 37 19 33233787 33233787 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001110822.1 +1 validated p.R141* 1.000 159 0% 108 30.6% - - - - - NULL CEP89 84902 genome.wustl.edu 37 19 33378749 33378749 + Splice_Site SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032816.3 -1 validated e17-2 0.983 222 0% 202 34.7% - - - - - - CEP89 84902 genome.wustl.edu 37 19 33422331 33422331 + Missense_Mutation SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000427840 -1 known p.T345S 0.572 88 0% 82 35.4% - - - - - NULL GPATCH1 55094 genome.wustl.edu 37 19 33608886 33608886 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018025.2 +1 provisional p.G784 0.005 50 0% 56 26.8% - - - - - NULL WDR88 126248 genome.wustl.edu 37 19 33635777 33635777 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173479.3 +1 validated p.D139N 0.000 90 0% 133 35.3% - - benign(0.052) tolerated(0.25) neutral(0.040) HMMSmart_SM00320,superfamily_WD40 repeat-like SLC7A10 56301 genome.wustl.edu 37 19 33706779 33706779 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_019849.2 -1 validated p.G84 0.930 16 0% 54 44.4% - - - - - HMMPfam_AA_permease GRAMD1A 57655 genome.wustl.edu 37 19 35514373 35514373 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020895.3 +1 validated p.A668 0.999 25 0% 70 18.6% - - - - - NULL HPN 3249 genome.wustl.edu 37 19 35556452 35556452 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002151.2 +1 reviewed p.A306V 1.000 38 0% 54 25.9% - - probably_damaging(0.995) deleterious(0.03) deleterious(0.822) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys FXYD3 5349 genome.wustl.edu 37 19 35612135 35612135 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001136007.1 +1 reviewed p.S85N 1.000 144 0.7% 261 45.6% - - benign(0.082) deleterious(0.05) neutral(0.351) HMMPfam_ATP1G1_PLM_MAT8,PatternScan_FXYD FXYD7 53822 genome.wustl.edu 37 19 35639726 35639726 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000439441 +1 known p.L35 0.035 141 0% 185 32.4% - - - - - NULL FXYD5 53827 genome.wustl.edu 37 19 35646453 35646453 + Splice_Site SNP G G T rs112880548 byCluster TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014164.5 +1 reviewed e1-1 0.992 45 0% 69 44.9% - - - - - - LSR 51599 genome.wustl.edu 37 19 35757635 35757635 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_205834.2 +1 validated p.A384T 0.000 45 0% 122 11.5% - - benign(0.066) tolerated(0.33) neutral(0.029) NULL USF2 7392 genome.wustl.edu 37 19 35769679 35769679 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003367.2 +1 reviewed p.N269T 0.977 45 0% 86 29.1% - - benign(0.003) tolerated(0.47) neutral(0.011) HMMPfam_HLH,HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain USF2 7392 genome.wustl.edu 37 19 35769912 35769912 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003367.2 +1 reviewed p.R296C 1.000 24 0% 53 30.2% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain MAG 4099 genome.wustl.edu 37 19 35791085 35791085 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002361.2 +1 reviewed p.E250K 1.000 8 0.000 24 0.208 - - benign(0.156) deleterious(0.03) neutral(0.379) HMMPfam_I-set,superfamily_SSF48726 GAPDHS 26330 genome.wustl.edu 37 19 36034584 36034584 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014364.4 +1 reviewed p.A304V 0.999 22 0% 53 32.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Gp_dh_C,superfamily_SSF55347 TMEM147 10430 genome.wustl.edu 37 19 36036826 36036826 + Silent SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032635.2 +1 provisional p.A38 0.805 44 0% 72 34.7% - - - - - HMMPfam_DUF2053 ZBTB32 27033 genome.wustl.edu 37 19 36205877 36205877 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014383.1 +1 provisional p.A117T 0.000 38 0% 88 29.5% - - possibly_damaging(0.842) deleterious(0.03) deleterious(0.686) HMMSmart_BTB,HMMPfam_BTB MLL4 9757 genome.wustl.edu 37 19 36219692 36219692 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014727.1 +1 reviewed p.A1530V 1.000 47 0% 109 34.9% - - possibly_damaging(0.792) - - NULL MLL4 9757 genome.wustl.edu 37 19 36221482 36221482 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014727.1 +1 reviewed p.S1747 0.154 107 0% 182 34.6% - - - - - HMMPfam_FYRN,HMMSmart_SM00541 MLL4 9757 genome.wustl.edu 37 19 36222944 36222944 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014727.1 +1 reviewed p.R1858H 1.000 28 0% 55 40% - - probably_damaging(0.989) - - NULL MLL4 9757 genome.wustl.edu 37 19 36223929 36223929 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014727.1 +1 reviewed p.T2160I 1.000 7 0.000 25 0.360 - - possibly_damaging(0.922) - - NULL MLL4 9757 genome.wustl.edu 37 19 36229209 36229209 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014727.1 +1 reviewed p.M2633I 1.000 74 0% 124 38.7% - - benign(0.03) - - HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain IGFLR1 79713 genome.wustl.edu 37 19 36230875 36230875 + Missense_Mutation SNP C C G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024660.2 -1 provisional p.V153L 0.000 36 0% 92 31.5% - - unknown(0) tolerated(0.2) - NULL ENSG00000247203 0 genome.wustl.edu 37 19 36244267 36244267 + RNA SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000501632 -1 novel NULL 0.000 13 0% 18 27.8% - - - - - - ARHGAP33 115703 genome.wustl.edu 37 19 36271946 36271946 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_052948.3 +1 reviewed p.G318 0.750 20 0% 32 31.2% - - - - - superfamily_Rho_GAP PRODH2 58510 genome.wustl.edu 37 19 36303602 36303602 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021232.1 -1 reviewed p.E112K 0.959 24 0% 46 30.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL APLP1 333 genome.wustl.edu 37 19 36365713 36365713 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001024807.1 +1 reviewed p.R429H 0.409 11 0% 35 25.7% - - probably_damaging(0.987) deleterious(0) deleterious(0.881) superfamily_CAPPD an extracellular domain of amyloid beta A4 protein CLIP3 25999 genome.wustl.edu 37 19 36510196 36510196 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015526.1 -1 provisional p.R311W 1.000 28 0% 60 40% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CAP_GLY,superfamily_Cap-Gly domain THAP8 199745 genome.wustl.edu 37 19 36530435 36530435 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152658.2 -1 provisional p.A154 0.000 62 0% 129 28.7% - - - - - NULL WDR62 284403 genome.wustl.edu 37 19 36590402 36590402 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001083961.1 +1 validated p.K874 1.000 23 0% 40 25% - - - - - NULL ZNF565 147929 genome.wustl.edu 37 19 36674373 36674373 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001042474.1 -1 validated p.K165 0.961 239 0% 158 41.1% - - - - - superfamily_SSF57667 ZNF382 84911 genome.wustl.edu 37 19 37100578 37100578 + Splice_Site SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000455093 +1 known e1+1 0.001 8 0.000 11 0.727 - - - - - - ZNF790 388536 genome.wustl.edu 37 19 37309846 37309846 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_206894.2 -1 validated p.R467Q 0.000 150 0% 52 42.3% - - possibly_damaging(0.873) tolerated(0.83) neutral(0.340) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF790 388536 genome.wustl.edu 37 19 37310991 37310991 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_206894.2 -1 validated p.K85N 0.082 84 0% 33 33.3% - - probably_damaging(0.99) tolerated(0.13) deleterious(0.694) NULL ZNF790 388536 genome.wustl.edu 37 19 37314210 37314210 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_206894.2 -1 validated p.D69G 0.005 109 0% 62 35.5% - - probably_damaging(0.988) tolerated(0.11) deleterious(0.709) NULL ZNF568 374900 genome.wustl.edu 37 19 37441228 37441228 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198539.2 +1 validated p.K391 0.313 88 0% 41 29.3% - - - - - HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF420 147923 genome.wustl.edu 37 19 37618957 37618957 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144689.3 +1 provisional p.R355M 1.000 137 0% 47 36.2% - - possibly_damaging(0.941) deleterious(0.01) deleterious(0.792) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF585B 92285 genome.wustl.edu 37 19 37676708 37676708 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152279.3 -1 validated p.P577 0.070 207 0% 106 34.9% - - - - - superfamily_SSF57667 ZNF585B 92285 genome.wustl.edu 37 19 37677451 37677451 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152279.3 -1 validated p.E330K 0.256 310 0% 144 34% - - possibly_damaging(0.481) deleterious(0.04) deleterious(0.508) superfamily_SSF57667 ZNF585B 92285 genome.wustl.edu 37 19 37697985 37697985 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152279.3 -1 validated p.K10T 0.001 100 0% 83 39.8% - - unknown(0) - - NULL ZNF383 163087 genome.wustl.edu 37 19 37734188 37734188 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152604.1 +1 provisional p.G350 0.016 142 0% 62 16.1% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 HKR1 284459 genome.wustl.edu 37 19 37853743 37853743 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_181786.2 +1 provisional p.R349L 0.002 114 0% 57 33.3% - - possibly_damaging(0.945) deleterious(0.01) deleterious(0.795) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF527 84503 genome.wustl.edu 37 19 37879916 37879916 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032453.1 +1 validated p.R322I 0.635 159 0% 60 36.7% - - possibly_damaging(0.895) deleterious(0) deleterious(0.797) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF540 163255 genome.wustl.edu 37 19 38103379 38103379 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152606.3 +1 validated p.R400W 0.001 193 0% 69 30.4% - - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF540 163255 genome.wustl.edu 37 19 38103827 38103827 + Missense_Mutation SNP A A T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152606.3 +1 validated p.K549I 0.992 144 0% 40 37.5% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_C2H2 and C2HC zinc fingers ZFP30 22835 genome.wustl.edu 37 19 38125901 38125901 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014898.2 -1 validated p.R514Q 1.000 139 0% 55 32.7% - - possibly_damaging(0.591) deleterious(0.01) deleterious(0.610) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZFP30 22835 genome.wustl.edu 37 19 38126015 38126015 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014898.2 -1 validated p.R476I 0.565 186 0% 77 11.7% - - probably_damaging(0.998) tolerated(0.54) deleterious(0.482) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZFP30 22835 genome.wustl.edu 37 19 38126751 38126751 + Splice_Site SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000440715 -1 known e4+1 0.000 154 0% 79 26.6% - - - - - - ZNF781 163115 genome.wustl.edu 37 19 38160724 38160724 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152605.3 -1 validated p.R109I 1.000 194 0% 125 32.8% - - possibly_damaging(0.541) tolerated(0.06) deleterious(0.506) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF607 84775 genome.wustl.edu 37 19 38190121 38190121 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032689.4 -1 validated p.T304N 1.000 84 0% 54 33.3% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_C2H2 and C2HC zinc fingers ZNF607 84775 genome.wustl.edu 37 19 38190277 38190277 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032689.4 -1 validated p.P252L 0.999 153 0% 62 46.8% - - probably_damaging(0.979) deleterious(0) deleterious(0.867) superfamily_C2H2 and C2HC zinc fingers WDR87 83889 genome.wustl.edu 37 19 38383923 38383923 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031951.3 -1 provisional p.R768Q 0.000 68 0% 42 35.7% - - possibly_damaging(0.656) - - superfamily_WD40 repeat-like PSMD8 5714 genome.wustl.edu 37 19 38872859 38872859 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002812.4 +1 reviewed p.Y302 0.847 41 0% 71 32.4% - - - - - NULL GGN 199720 genome.wustl.edu 37 19 38877713 38877713 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152657.3 -1 reviewed p.P63 1.000 48 0% 87 47.1% - - - - - NULL FAM98C 147965 genome.wustl.edu 37 19 38896211 38896211 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_174905.3 +1 validated p.R229H 0.983 89 0% 152 30.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF2465 FAM98C 147965 genome.wustl.edu 37 19 38897585 38897585 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_174905.3 +1 validated p.P262 0.291 47 0% 88 42% - - - - - HMMPfam_DUF2465 RASGRP4 115727 genome.wustl.edu 37 19 38904084 38904084 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_170604.2 -1 reviewed p.E421K 0.999 33 0% 97 36.1% - - probably_damaging(0.974) deleterious(0) deleterious(0.861) HMMSmart_SM00147,superfamily_Ras GEF RASGRP4 115727 genome.wustl.edu 37 19 38912676 38912676 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_170604.2 -1 reviewed p.N47 0.638 38 0% 74 29.7% - - - - - superfamily_Ras GEF RYR1 6261 genome.wustl.edu 37 19 38933033 38933033 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000540.2 +1 reviewed p.Q70 1.000 63 0% 100 11% - - - - - HMMPfam_Ins145_P3_rec MAP4K1 11184 genome.wustl.edu 37 19 39108211 39108211 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007181.4 -1 validated p.P52S 1.000 108 0% 171 32.7% - - benign(0.39) deleterious(0.01) deleterious(0.530) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase ACTN4 81 genome.wustl.edu 37 19 39214947 39214947 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004924.3 +1 reviewed p.T615A 1.000 28 0% 58 31% - - unknown(0) deleterious(0) - HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin LGALS4 3960 genome.wustl.edu 37 19 39292738 39292738 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006149.3 -1 reviewed p.R240H 0.998 88 0% 149 34.2% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Gal-bind_lectin,HMMSmart_SM00276,superfamily_Concanavalin A-like lectins/glucanases LGALS4 3960 genome.wustl.edu 37 19 39303130 39303130 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006149.3 -1 reviewed p.G25 0.047 31 0% 50 42% - - - - - HMMPfam_Gal-bind_lectin,HMMSmart_SM00276,superfamily_Concanavalin A-like lectins/glucanases HNRNPL 3191 genome.wustl.edu 37 19 39334653 39334653 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001533.2 -1 reviewed p.A268T 1.000 196 0% 252 39.3% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_SSF54928 NFKBIB 4793 genome.wustl.edu 37 19 39395987 39395987 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002503.3 +1 validated p.R144H 0.079 17 0% 33 42.4% - - benign(0.22) tolerated(0.15) neutral(0.263) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat SARS2 54938 genome.wustl.edu 37 19 39406318 39406318 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017827.3 -1 reviewed p.H495 0.536 39 0% 65 49.2% - - - - - NULL MRPS12 6183 genome.wustl.edu 37 19 39423284 39423284 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021107.1 +1 reviewed p.V121I 0.971 12 0% 24 33.3% - - possibly_damaging(0.72) deleterious(0.03) deleterious(0.625) HMMPfam_Ribosomal_S12,superfamily_Nucleic acid-binding proteins LRFN1 57622 genome.wustl.edu 37 19 39804578 39804578 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020862.1 -1 validated p.V467I 0.995 33 0% 62 27.4% - - possibly_damaging(0.67) tolerated(0.57) neutral(0.243) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like PAF1 54623 genome.wustl.edu 37 19 39880350 39880350 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_019088.2 -1 provisional p.L74 0.935 170 0% 280 13.9% - - - - - HMMPfam_Paf1 PLEKHG2 64857 genome.wustl.edu 37 19 39915442 39915442 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022835.2 +1 validated p.I1223M 0.000 63 0% 107 10.3% - - benign(0.126) deleterious(0) neutral(0.455) NULL DLL3 10683 genome.wustl.edu 37 19 39998559 39998559 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016941.3 +1 reviewed p.A588V 0.145 58 0% 139 17.3% - - benign(0.163) deleterious(0) neutral(0.459) NULL DYRK1B 9149 genome.wustl.edu 37 19 40318062 40318062 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004714.1 -1 reviewed p.D320N 1.000 18 0% 55 29.1% - - probably_damaging(1) tolerated(0.05) deleterious(0.845) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase DYRK1B 9149 genome.wustl.edu 37 19 40319120 40319120 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004714.1 -1 reviewed p.G208 0.190 74 0% 183 40.4% - - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase LOC100289588 100289588 genome.wustl.edu 37 19 40362854 40362854 + Splice_Site SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002343681.1 +1 model e3+1 1.000 12 0% 23 39.1% - - - - - - FCGBP 8857 genome.wustl.edu 37 19 40392445 40392445 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003890.2 -1 validated p.D2687Y 0.859 55 0% 87 33.3% - - unknown(0) tolerated(0.11) - HMMPfam_C8 FCGBP 8857 genome.wustl.edu 37 19 40430327 40430327 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003890.2 -1 validated p.S539Y 0.000 31 0% 85 35.3% - - probably_damaging(0.953) deleterious(0.05) deleterious(0.742) HMMPfam_VWD,HMMSmart_VWD FCGBP 8857 genome.wustl.edu 37 19 40434214 40434214 + Splice_Site SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003890.2 -1 validated e2-1 0.704 32 0% 39 43.6% - - - - - - ZNF546 339327 genome.wustl.edu 37 19 40504262 40504262 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178544.3 +1 validated p.P10H 0.000 150 0% 192 35.9% - - benign(0.007) - - NULL ZNF546 339327 genome.wustl.edu 37 19 40513237 40513237 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178544.3 +1 validated p.C76 0.078 296 0% 129 38% - - - - - HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box ZNF546 339327 genome.wustl.edu 37 19 40520392 40520392 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000444043 +1 known p.K21R 1.000 126 0% 40 37.5% - - - - - NULL ZNF546 339327 genome.wustl.edu 37 19 40521315 40521315 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000444043 +1 known p.E217* 1.000 168 0% 56 69.6% - - possibly_damaging(0.651) deleterious(0.02) deleterious(0.612) NULL ZNF546 339327 genome.wustl.edu 37 19 40521728 40521728 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000392042 +1 known p.E441* 0.000 20 0.000 6 0.667 - - - - - superfamily_C2H2 and C2HC zinc fingers ZNF780B 163131 genome.wustl.edu 37 19 40542296 40542296 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005851.2 -1 validated p.P157H 0.000 266 0.4% 79 39.2% - - benign(0.003) tolerated(0.39) neutral(0.016) superfamily_C2H2 and C2HC zinc fingers ZNF780A 284323 genome.wustl.edu 37 19 40580955 40580955 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001142577.1 -1 validated p.R466Q 0.005 234 0.4% 77 40.3% - - benign(0.08) tolerated(0.13) neutral(0.258) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF780A 284323 genome.wustl.edu 37 19 40581741 40581741 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001142577.1 -1 validated p.R204Q 0.001 259 0% 68 36.8% - - benign(0.001) tolerated(0.61) neutral(0.004) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers MAP3K10 4294 genome.wustl.edu 37 19 40704357 40704357 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002446.3 +1 reviewed p.R253H 1.000 60 0% 93 37.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Kinase_like,HMMPfam_Pkinase LOC100289661 100289661 genome.wustl.edu 37 19 40711982 40711982 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002343682.1 -1 model p.P362T 0.753 10 0% 23 30.4% - - - - - NULL MAP3K10 4294 genome.wustl.edu 37 19 40718824 40718824 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002446.3 +1 reviewed p.K555N 1.000 67 0% 126 34.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PLD3 23646 genome.wustl.edu 37 19 40872714 40872714 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001031696.2 +1 validated p.A46V 0.825 25 0% 72 36.1% - - benign(0.073) tolerated(0.4) neutral(0.021) NULL PLD3 23646 genome.wustl.edu 37 19 40873752 40873752 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001031696.2 +1 validated p.N132S 0.996 39 0% 47 42.6% - - benign(0.002) tolerated(0.71) neutral(0.002) superfamily_SSF56024 HIPK4 147746 genome.wustl.edu 37 19 40886692 40886692 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144685.3 -1 provisional p.A402 0.000 25 0% 50 32% - - - - - NULL PRX 57716 genome.wustl.edu 37 19 40902656 40902656 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_181882.2 -1 reviewed p.E535* 0.978 52 0% 111 24.3% - - - - - NULL PRX 57716 genome.wustl.edu 37 19 40903306 40903306 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_181882.2 -1 reviewed p.A318V 0.991 5 0.000 13 0.538 - - probably_damaging(0.955) tolerated(0.14) deleterious(0.648) NULL SERTAD1 29950 genome.wustl.edu 37 19 40928973 40928973 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013376.3 -1 validated p.A161S 1.000 13 0% 36 33.3% - - possibly_damaging(0.711) tolerated(0.24) neutral(0.294) NULL SHKBP1 92799 genome.wustl.edu 37 19 41096245 41096245 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138392.3 +1 validated p.R562H 1.000 7 0.000 12 0.667 - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320 LTBP4 8425 genome.wustl.edu 37 19 41118970 41118970 + Splice_Site SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000308370 +1 known e19-1 1.000 55 0% 108 43.5% - - - - - - LTBP4 8425 genome.wustl.edu 37 19 41132972 41132972 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000308370 +1 known p.D1426Y 0.995 51 0% 131 29.8% - - possibly_damaging(0.677) deleterious(0.02) deleterious(0.624) NULL NUMBL 9253 genome.wustl.edu 37 19 41183161 41183161 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004756.3 -1 validated p.R236* 0.910 22 0% 43 37.2% - - - - - NULL ADCK4 79934 genome.wustl.edu 37 19 41220017 41220017 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024876.3 -1 validated p.R82C 1.000 71 0% 118 28% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL EGLN2 112398 genome.wustl.edu 37 19 41313759 41313759 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_053046.2 +1 reviewed p.T405M 0.087 88 0% 217 33.2% - - unknown(0) deleterious(0) - NULL CYP2B7P1 1556 genome.wustl.edu 37 19 41442333 41442333 + RNA SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NR_001278.1 +1 provisional NULL 0.801 128 0% 98 42.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) - CYP2B6 1555 genome.wustl.edu 37 19 41497256 41497256 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000767.4 +1 reviewed p.L16 0.001 75 0% 33 27.3% - - - - - NULL CYP2B6 1555 genome.wustl.edu 37 19 41518645 41518645 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000767.4 +1 reviewed p.A407T 0.000 135 0% 89 39.3% - - benign(0.001) tolerated(0.6) neutral(0.004) HMMPfam_p450,superfamily_Cytochrome_P450 HNRNPUL1 11100 genome.wustl.edu 37 19 41778055 41778055 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007040.3 +1 reviewed p.P163S 0.996 79 0% 92 32.6% - - benign(0) tolerated(0.25) neutral(0.037) NULL HNRNPUL1 11100 genome.wustl.edu 37 19 41798331 41798331 + Missense_Mutation SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007040.3 +1 reviewed p.L394H 1.000 145 0% 121 33.9% - - probably_damaging(0.954) tolerated(0.09) deleterious(0.694) NULL HNRNPUL1 11100 genome.wustl.edu 37 19 41810115 41810115 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007040.3 +1 reviewed p.G737 1.000 86 0% 139 30.9% - - - - - NULL CCDC97 90324 genome.wustl.edu 37 19 41828546 41828546 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_052848.1 +1 provisional p.R320W 0.995 66 0% 146 38.4% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_DUF2052 BCKDHA 593 genome.wustl.edu 37 19 41928927 41928927 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000709.3 +1 reviewed p.D340 1.000 38 0% 65 10.8% - - - - - HMMPfam_E1_dh,superfamily_SSF52518 CEACAM6 4680 genome.wustl.edu 37 19 42265352 42265352 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002483.4 +1 validated p.R207M 0.772 282 0% 187 38.5% - - probably_damaging(0.983) deleterious(0) deleterious(0.873) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin ARHGEF1 9138 genome.wustl.edu 37 19 42396432 42396432 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_199002.1 +1 reviewed p.A134T 0.208 42 0% 66 37.9% - - possibly_damaging(0.908) deleterious(0.02) deleterious(0.744) HMMPfam_RGS-like,superfamily_Regulat_G_prot_signal_superfam ARHGEF1 9138 genome.wustl.edu 37 19 42399457 42399457 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_199002.1 +1 reviewed p.V320M 0.074 20 0% 88 39.8% - - possibly_damaging(0.907) deleterious(0.03) deleterious(0.725) NULL LOC390937 390937 genome.wustl.edu 37 19 42413516 42413516 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_372730.7 -1 model p.A137V 0.978 10 0% 21 38.1% - - - - - "superfamily_""Winged helix"" DNA-binding domain" ATP1A3 478 genome.wustl.edu 37 19 42471139 42471139 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000441343 -1 known p.S1092Y 0.761 152 0% 245 40.8% - - unknown(0) - - NULL ZNF526 116115 genome.wustl.edu 37 19 42730320 42730320 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_133444.1 +1 provisional p.R589* 0.712 76 0% 144 36.1% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ERF 2077 genome.wustl.edu 37 19 42752959 42752959 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006494.2 -1 validated p.S435 0.573 14 0% 46 37% - - - - - NULL MEGF8 1954 genome.wustl.edu 37 19 42859988 42859988 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001410.2 +1 validated p.G1341V 0.887 18 0% 41 29.3% - - possibly_damaging(0.874) tolerated(0.3) neutral(0.368) NULL MEGF8 1954 genome.wustl.edu 37 19 42872634 42872634 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001410.2 +1 validated p.R2034* 1.000 4 0.000 17 0.529 - - - - - HMMSmart_PSI CNFN 84518 genome.wustl.edu 37 19 42891561 42891561 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032488.3 -1 validated p.C60 1.000 8 0.000 20 0.300 - - - - - HMMPfam_PLAC8 PSG8 440533 genome.wustl.edu 37 19 43258523 43258523 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182707.2 -1 validated p.G402D 0.007 317 0% 159 11.9% - - possibly_damaging(0.861) deleterious(0.05) deleterious(0.678) superfamily_SSF48726 PSG6 5675 genome.wustl.edu 37 19 43414732 43414732 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002782.3 -1 provisional p.P236S 0.001 187 0% 100 37% - - benign(0) tolerated(0.67) neutral(0.003) NULL PSG7 5676 genome.wustl.edu 37 19 43430860 43430860 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002783.2 -1 reviewed p.P240S 0.003 500 0% 198 34.8% - - benign(0.022) tolerated(0.24) neutral(0.038) superfamily_Immunoglobulin PSG2 5670 genome.wustl.edu 37 19 43579640 43579640 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031246.2 -1 validated p.R192M 0.001 344 0% 202 39.6% - - benign(0.242) deleterious(0) deleterious(0.469) HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726 TEX101 83639 genome.wustl.edu 37 19 43922159 43922159 + Splice_Site SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031451.4 +1 validated e5+1 1.000 209 0% 153 39.9% - - - - - - LOC100287012 100287012 genome.wustl.edu 37 19 44005835 44005835 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002343684.1 +1 model p.P16S 0.000 15 0% 26 53.8% - - - - - NULL ZNF428 126299 genome.wustl.edu 37 19 44112052 44112052 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182498.3 -1 validated p.L95P 1.000 9 0.000 14 0.429 - - probably_damaging(0.978) deleterious(0) deleterious(0.865) NULL SRRM5 100170229 genome.wustl.edu 37 19 44116503 44116503 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001145641.1 +1 validated p.R77Q 0.000 166 0% 260 33.8% - - benign(0.036) tolerated(0.21) neutral(0.046) NULL IRGC 56269 genome.wustl.edu 37 19 44222793 44222793 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_019612.3 +1 validated p.R28H 0.983 8 0.000 21 0.381 - - probably_damaging(0.998) deleterious(0.04) deleterious(0.823) HMMPfam_IIGP,superfamily_SSF52540 KCNN4 3783 genome.wustl.edu 37 19 44284966 44284966 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002250.2 -1 reviewed p.K16 0.933 76 0% 117 34.2% - - - - - HMMPfam_SK_channel ZNF404 342908 genome.wustl.edu 37 19 44377473 44377473 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001033719.2 -1 validated p.P298L 1.000 84 0% 36 22.2% - - probably_damaging(0.99) tolerated(0.1) deleterious(0.728) superfamily_C2H2 and C2HC zinc fingers ZNF45 7596 genome.wustl.edu 37 19 44417577 44417577 + Missense_Mutation SNP A A T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003425.3 -1 validated p.F671I 0.059 114 0% 31 45.2% - - benign(0.012) tolerated(0.34) neutral(0.024) NULL ZNF233 353355 genome.wustl.edu 37 19 44777144 44777144 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_181756.1 +1 provisional p.Q111K 0.031 64 0% 41 34.1% - - benign(0.19) tolerated(0.23) neutral(0.059) NULL ZNF233 353355 genome.wustl.edu 37 19 44777281 44777281 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_181756.1 +1 provisional p.N156K 0.000 64 0% 30 36.7% - - possibly_damaging(0.475) tolerated(0.08) neutral(0.457) NULL ZFP112 7771 genome.wustl.edu 37 19 44833245 44833245 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001083335.1 -1 validated p.H361 0.704 154 0% 40 30% - - - - - superfamily_C2H2 and C2HC zinc fingers BCAM 4059 genome.wustl.edu 37 19 45314484 45314484 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005581.3 +1 reviewed p.A29T 0.888 152 0% 271 35.4% - - benign(0.118) tolerated(0.2) neutral(0.059) NULL TOMM40 10452 genome.wustl.edu 37 19 45404515 45404515 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001128916.1 +1 validated p.S298 0.335 58 0% 135 40.7% - - - - - HMMPfam_Porin_3 APOC4 346 genome.wustl.edu 37 19 45448439 45448439 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001646.1 +1 reviewed p.D87 0.050 43 0% 62 37.1% - - - - - NULL RELB 5971 genome.wustl.edu 37 19 45537727 45537727 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006509.2 +1 validated p.S432I 1.000 40 0% 48 37.5% - - possibly_damaging(0.84) tolerated(0.06) deleterious(0.644) superfamily_Ig_E-set CLASRP 11129 genome.wustl.edu 37 19 45567851 45567851 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007056.2 +1 validated p.A458T 0.092 13 0% 18 33.3% - - unknown(0) tolerated(0.18) - NULL MARK4 57787 genome.wustl.edu 37 19 45762361 45762361 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031417.2 +1 provisional p.V56M 0.998 31 0% 65 46.2% - - possibly_damaging(0.832) deleterious(0) deleterious(0.762) superfamily_Kinase_like KLC3 147700 genome.wustl.edu 37 19 45848848 45848848 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_177417.2 +1 reviewed p.R17C 0.998 6 0.000 14 0.286 - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL PPP1R13L 10848 genome.wustl.edu 37 19 45899489 45899489 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001142502.1 -1 validated p.S280 0.000 35 0% 101 18.8% - - - - - NULL FOSB 2354 genome.wustl.edu 37 19 45973967 45973967 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006732.2 +1 reviewed p.W69* 1.000 33 0% 66 37.9% - - - - - NULL PPM1N 147699 genome.wustl.edu 37 19 46003206 46003206 + Splice_Site SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080401.1 +1 provisional e2-1 1.000 14 0% 37 43.2% - - - - - - EML2 24139 genome.wustl.edu 37 19 46122445 46122445 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012155.1 -1 provisional p.H376R 1.000 47 0% 103 33% - - possibly_damaging(0.919) deleterious(0.01) deleterious(0.775) HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 GIPR 2696 genome.wustl.edu 37 19 46181365 46181365 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000164.2 +1 validated p.T345A 1.000 32 0% 63 14.3% - - probably_damaging(0.966) tolerated(0.31) neutral(0.435) HMMPfam_7tm_2 DMWD 1762 genome.wustl.edu 37 19 46295581 46295581 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004943.1 -1 validated p.S145N 1.000 17 0% 52 44.2% - - benign(0.362) deleterious(0.01) deleterious(0.521) NULL IRF2BP1 26145 genome.wustl.edu 37 19 46388582 46388582 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015649.1 -1 provisional p.R151* 0.049 6 0.000 21 0.429 - - - - - NULL NOVA2 4858 genome.wustl.edu 37 19 46457108 46457108 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002516.2 -1 validated p.A109V 0.988 313 0% 385 10.6% - - unknown(0) tolerated(0.3) - NULL HIF3A 64344 genome.wustl.edu 37 19 46807224 46807224 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152795.2 +1 reviewed p.E32D 1.000 5 0.000 21 0.381 - - benign(0.224) tolerated(0.21) neutral(0.066) HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain HIF3A 64344 genome.wustl.edu 37 19 46807290 46807290 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000420102 +1 known p.P34L 0.967 4 0.000 22 0.318 - - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL AP2S1 1175 genome.wustl.edu 37 19 47341794 47341794 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004069.3 -1 reviewed p.V113 0.961 31 0% 36 33.3% - - - - - HMMPfam_Clat_adaptor_s,superfamily_SNARE-like AP2S1 1175 genome.wustl.edu 37 19 47342728 47342728 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004069.3 -1 reviewed p.F87 0.997 66 0% 109 45% - - - - - HMMPfam_Clat_adaptor_s,superfamily_SNARE-like ARHGAP35 2909 genome.wustl.edu 37 19 47422678 47422678 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004491.4 +1 reviewed p.K249T 1.000 96 0% 61 29.5% - - possibly_damaging(0.891) deleterious(0) deleterious(0.795) HMMPfam_Ras SAE1 10055 genome.wustl.edu 37 19 47634241 47634241 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005500.2 +1 validated p.S18N 1.000 26 0% 90 32.2% - - - - - NULL LOC100287311 100287311 genome.wustl.edu 37 19 47813047 47813047 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002343688.1 -1 model p.L200I 0.000 36 0% 39 25.6% - - - - - NULL LOC100287338 100287338 genome.wustl.edu 37 19 47844140 47844140 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002343689.1 -1 model p.A288T 0.005 16 0% 44 36.4% - - - - - NULL DHX34 9704 genome.wustl.edu 37 19 47856397 47856397 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014681.5 +1 reviewed p.R37H 0.354 28 0% 61 41% - - benign(0.005) tolerated(0.39) neutral(0.016) NULL KPTN 11133 genome.wustl.edu 37 19 47986421 47986421 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007059.2 -1 validated p.A149V 0.997 74 1.4% 110 37.3% - - possibly_damaging(0.452) deleterious(0.03) deleterious(0.512) NULL ZNF541 84215 genome.wustl.edu 37 19 48047985 48047985 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001101419.1 -1 validated p.P601S 0.020 7 0.000 23 0.478 - - benign(0.151) deleterious(0.04) neutral(0.362) NULL LIG1 3978 genome.wustl.edu 37 19 48643395 48643395 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000234.1 -1 reviewed p.R307Q 1.000 24 0% 42 40.5% - - possibly_damaging(0.639) tolerated(0.05) deleterious(0.569) HMMPfam_DNA_ligase_A_N CCDC114 93233 genome.wustl.edu 37 19 48800332 48800332 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144577.3 -1 validated p.S638 0.006 23 0% 45 37.8% - - - - - NULL CYTH2 9266 genome.wustl.edu 37 19 48981589 48981589 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017457.4 +1 reviewed p.D316N 1.000 34 0% 109 35.8% - - possibly_damaging(0.585) deleterious(0.01) deleterious(0.607) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like FAM83E 54854 genome.wustl.edu 37 19 49104515 49104515 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017708.3 -1 validated p.A430T 0.173 17 0% 32 18.8% - - benign(0.001) deleterious(0.01) neutral(0.406) NULL FUT2 2524 genome.wustl.edu 37 19 49206501 49206501 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000511.5 +1 reviewed p.P96 0.000 29 0% 48 43.8% - - - - - HMMPfam_Glyco_transf_11 FUT1 2523 genome.wustl.edu 37 19 49253822 49253822 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000148.3 -1 reviewed p.S239 0.000 23 0% 58 39.7% - - - - - HMMPfam_Glyco_transf_11 BCAT2 587 genome.wustl.edu 37 19 49303012 49303012 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001190.3 -1 reviewed p.S205 0.016 15 0% 44 27.3% - - - - - HMMPfam_Aminotran_4,superfamily_D-aminoacid aminotransferase-like PLP-dependent enzymes PLEKHA4 57664 genome.wustl.edu 37 19 49355499 49355499 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020904.2 -1 validated p.L471I 1.000 62 0% 108 12% - - possibly_damaging(0.787) tolerated(0.12) deleterious(0.555) NULL GYS1 2997 genome.wustl.edu 37 19 49488788 49488788 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002103.4 -1 reviewed p.C251 0.998 68 0% 122 41% - - - - - HMMPfam_Glycogen_syn,superfamily_SSF53756 LHB 3972 genome.wustl.edu 37 19 49519512 49519512 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000894.2 -1 reviewed p.R80H 0.002 82 1.2% 92 34.8% - - benign(0.001) tolerated(0.27) neutral(0.034) HMMSmart_GHB,HMMPfam_Cys_knot,superfamily_SSF57501 CGB7 94027 genome.wustl.edu 37 19 49557689 49557689 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033142.1 -1 reviewed p.D119E 1.000 66 0% 147 23.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_GHB,HMMPfam_Cys_knot,PatternScan_GLYCO_HORMONE_BETA_2,superfamily_SSF57501 NTF4 4909 genome.wustl.edu 37 19 49564632 49564632 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006179.4 -1 reviewed p.G208V 0.970 10 0% 29 24.1% - - probably_damaging(0.973) deleterious(0) deleterious(0.859) HMMPfam_NGF CD37 951 genome.wustl.edu 37 19 49842068 49842068 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001774.2 +1 reviewed p.T187A 0.697 26 0% 45 35.6% - - benign(0.001) tolerated(0.7) neutral(0.002) superfamily_Tetraspanin,HMMPfam_Tetraspannin CCDC155 147872 genome.wustl.edu 37 19 49912536 49912536 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144688.4 +1 validated p.R381Q 0.017 47 0% 69 44.9% - - benign(0.002) tolerated(0.64) neutral(0.003) NULL PRR12 57479 genome.wustl.edu 37 19 50099849 50099849 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020719.1 +1 validated p.A753T 1.000 9 0.000 18 0.389 - - unknown(0) - - NULL PRR12 57479 genome.wustl.edu 37 19 50103169 50103169 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020719.1 +1 validated p.P1440L 0.985 10 0% 31 32.3% - - unknown(0) deleterious(0.01) - NULL CPT1C 126129 genome.wustl.edu 37 19 50204753 50204753 + Splice_Site SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152359.1 +1 provisional e5-1 1.000 14 0% 27 37% - - - - - - TSKS 60385 genome.wustl.edu 37 19 50243086 50243086 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021733.1 -1 reviewed p.G576C 1.000 88 0% 115 41.7% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL FUZ 80199 genome.wustl.edu 37 19 50311888 50311888 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025129.4 -1 validated p.L301F 1.000 44 0% 106 34% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL PTOV1 53635 genome.wustl.edu 37 19 50357913 50357913 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017432.3 +1 provisional p.R105H 0.997 33 0% 68 36.8% - - probably_damaging(0.999) tolerated(0.12) deleterious(0.751) NULL PNKP 11284 genome.wustl.edu 37 19 50364949 50364949 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007254.2 -1 provisional p.Y434 0.829 12 0% 32 40.6% - - - - - superfamily_SSF52540 NUP62 23636 genome.wustl.edu 37 19 50412682 50412682 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012346.3 -1 reviewed p.T128I 0.001 88 0% 173 32.9% - - possibly_damaging(0.563) tolerated(0.08) deleterious(0.492) NULL ZNF473 25888 genome.wustl.edu 37 19 50549705 50549705 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001006656.1 +1 validated p.A669T 0.015 88 0% 55 43.6% - - benign(0.001) tolerated(1) - superfamily_C2H2 and C2HC zinc fingers MYH14 79784 genome.wustl.edu 37 19 50758486 50758486 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000440075 +1 known p.G652V 0.989 71 0% 139 43.2% - - benign(0.03) tolerated(0.11) neutral(0.273) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYH14 79784 genome.wustl.edu 37 19 50774731 50774731 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001077186.1 +1 reviewed p.T1000 0.022 82 0% 136 32.4% - - - - - NULL NAPSA 9476 genome.wustl.edu 37 19 50865026 50865026 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004851.1 -1 reviewed p.R121Q 0.023 61 0% 85 38.8% - - probably_damaging(0.999) tolerated(0.08) deleterious(0.790) HMMPfam_Asp,superfamily_Pept_Aspartic MYBPC2 4606 genome.wustl.edu 37 19 50965258 50965258 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004533.3 +1 validated p.A1065T 0.089 36 0% 65 30.8% - - benign(0.002) tolerated(0.5) neutral(0.010) HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 SHANK1 50944 genome.wustl.edu 37 19 51215203 51215203 + Splice_Site SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016148.2 -1 validated e6+1 1.000 37 0% 83 18.1% - - - - - - ACPT 93650 genome.wustl.edu 37 19 51295562 51295562 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033068.2 +1 reviewed p.A205S 0.999 15 0% 28 28.6% - - possibly_damaging(0.892) tolerated(0.14) deleterious(0.601) HMMPfam_Acid_phosphat_A,superfamily_Phosphoglycerate mutase-like ACPT 93650 genome.wustl.edu 37 19 51297226 51297226 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033068.2 +1 reviewed p.A287D 1.000 42 0% 111 34.2% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Acid_phosphat_A,PatternScan_HIS_ACID_PHOSPHAT_2,superfamily_Phosphoglycerate mutase-like KLK6 5653 genome.wustl.edu 37 19 51462460 51462460 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001012964.1 -1 reviewed p.R232I 0.377 459 0% 426 39.4% - - possibly_damaging(0.453) deleterious(0.02) deleterious(0.531) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases KLK7 5650 genome.wustl.edu 37 19 51483128 51483128 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005046.2 -1 reviewed p.Q174H 0.001 60 0% 86 45.3% - - benign(0.111) tolerated(0.06) neutral(0.331) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases KLK14 43847 genome.wustl.edu 37 19 51582197 51582197 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022046.4 -1 validated p.A176T 0.010 89 0% 116 40.5% - - benign(0) tolerated(0.06) neutral(0.323) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys ENSG00000171101 0 genome.wustl.edu 37 19 51671572 51671572 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000341811 +1 known p.T191 0.000 82 0% 42 42.9% - - - - - superfamily_SSF48726 IGLON5 402665 genome.wustl.edu 37 19 51831948 51831948 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001101372.1 +1 provisional p.A316S 0.951 30 0% 71 33.8% - - unknown(0) tolerated(0.11) - NULL ETFB 2109 genome.wustl.edu 37 19 51848525 51848525 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001014763.1 -1 reviewed p.G327 0.995 80 0% 119 41.2% - - - - - superfamily_SSF52402 SIGLEC8 27181 genome.wustl.edu 37 19 51960916 51960916 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014442.2 -1 validated p.P178S 0.130 79 0% 129 38.8% - - possibly_damaging(0.769) tolerated(0.32) neutral(0.309) HMMSmart_SM00409,HMMPfam_C2-set_2,superfamily_Immunoglobulin SIGLEC12 89858 genome.wustl.edu 37 19 52002788 52002788 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_053003.2 -1 reviewed p.P331T 0.086 60 0% 52 46.2% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00409,HMMPfam_C2-set_2,superfamily_Immunoglobulin SIGLEC14 100049587 genome.wustl.edu 37 19 52146793 52146793 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001098612.1 -1 validated p.T382I 1.000 33 0% 34 29.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZNF649 65251 genome.wustl.edu 37 19 52394714 52394714 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_023074.3 -1 validated p.E225D 0.076 163 0% 119 36.1% - - benign(0.144) deleterious(0.02) neutral(0.396) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF350 59348 genome.wustl.edu 37 19 52472367 52472367 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021632.3 -1 validated p.E11D 0.014 209 0% 78 26.9% - - benign(0) tolerated(0.27) neutral(0.034) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF615 284370 genome.wustl.edu 37 19 52496274 52496274 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198480.2 -1 provisional p.C685 1.000 240 0% 116 39.7% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF614 80110 genome.wustl.edu 37 19 52519416 52519416 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025040.3 -1 validated p.G479* 0.992 233 0% 139 35.3% - - - - - superfamily_SSF57667 ZNF841 284371 genome.wustl.edu 37 19 52568613 52568613 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001136499.1 -1 validated p.R841I 0.013 212 0% 150 41.3% - - probably_damaging(0.997) tolerated(0.18) deleterious(0.522) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF841 284371 genome.wustl.edu 37 19 52569561 52569561 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001136499.1 -1 validated p.G525D 0.000 165 0% 83 34.9% - - benign(0.139) tolerated(0.45) neutral(0.024) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF616 90317 genome.wustl.edu 37 19 52618630 52618630 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178523.3 -1 validated p.R596Q 0.028 178 0% 65 44.6% - - benign(0.054) tolerated(0.92) neutral(0.004) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF616 90317 genome.wustl.edu 37 19 52619803 52619803 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178523.3 -1 validated p.R205M 0.000 260 0% 91 44% - - benign(0) tolerated(0.09) neutral(0.296) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF836 162962 genome.wustl.edu 37 19 52660080 52660080 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001102657.1 -1 provisional p.N286H 0.000 195 0% 96 31.2% - - possibly_damaging(0.949) tolerated(0.28) neutral(0.424) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF836 162962 genome.wustl.edu 37 19 52660175 52660175 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001102657.1 -1 provisional p.A254V 0.077 187 0% 89 25.8% - - benign(0.036) tolerated(0.65) neutral(0.005) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF836 162962 genome.wustl.edu 37 19 52660233 52660233 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001102657.1 -1 provisional p.N235H 0.000 195 0% 110 35.5% - - probably_damaging(0.98) tolerated(0.1) deleterious(0.710) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF534 147658 genome.wustl.edu 37 19 52941517 52941517 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001143939.1 +1 validated p.K281 0.996 137 0% 77 28.6% - - - - - superfamily_SSF57667 ZNF534 147658 genome.wustl.edu 37 19 52941686 52941686 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001143939.1 +1 validated p.P338T 1.000 174 0% 84 32.1% - - probably_damaging(0.997) tolerated(0.11) deleterious(0.738) superfamily_SSF57667 ZNF534 147658 genome.wustl.edu 37 19 52941846 52941846 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001143939.1 +1 validated p.G391E 1.000 186 0% 100 36% - - unknown(0) deleterious(0.03) - superfamily_SSF57667 ZNF578 147660 genome.wustl.edu 37 19 53007993 53007993 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001099694.1 +1 validated p.R50M 0.845 287 0% 181 34.8% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF578 147660 genome.wustl.edu 37 19 53014448 53014448 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001099694.1 +1 validated p.R272* 0.000 213 0.5% 98 40.8% - - - - - HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF578 147660 genome.wustl.edu 37 19 53014537 53014537 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001099694.1 +1 validated p.S301 0.000 194 0% 105 36.2% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ENSG00000248326 0 genome.wustl.edu 37 19 53015983 53015983 + RNA SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000502966 -1 novel NULL 0.003 77 0% 48 29.2% - - - - - - ZNF808 388558 genome.wustl.edu 37 19 53058090 53058090 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001039886.3 +1 validated p.H641Y 0.676 153 0% 100 34% - - possibly_damaging(0.471) deleterious(0) deleterious(0.600) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF611 81856 genome.wustl.edu 37 19 53209509 53209509 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030972.3 -1 validated p.L267F 0.009 397 0% 210 36.7% - - possibly_damaging(0.671) tolerated(0.07) deleterious(0.557) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF600 162966 genome.wustl.edu 37 19 53269016 53269016 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198457.2 -1 validated p.P665T 0.190 319 0% 129 40.3% - - benign(0.359) deleterious(0) deleterious(0.558) superfamily_C2H2 and C2HC zinc fingers ZNF320 162967 genome.wustl.edu 37 19 53384140 53384140 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_207333.2 -1 validated p.Y413 0.077 167 0.6% 86 29.1% - - - - - HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 LOC388559 388559 genome.wustl.edu 37 19 53411072 53411072 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_496322.5 -1 model p.N150S 0.040 292 0% 160 37.5% - - - - - NULL ZNF347 84671 genome.wustl.edu 37 19 53652058 53652058 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032584.2 -1 validated p.I49 0.001 168 0% 124 33.1% - - - - - HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF347 84671 genome.wustl.edu 37 19 53652590 53652590 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032584.2 -1 validated p.E16K 0.794 298 0% 134 26.1% - - possibly_damaging(0.888) tolerated(0.08) deleterious(0.647) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) BIRC8 112401 genome.wustl.edu 37 19 53793269 53793269 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033341.3 -1 validated p.R120Q 0.072 313 0.3% 346 31.5% - - benign(0.033) tolerated(0.61) neutral(0.005) superfamily_Inhibitor of apoptosis (IAP) repeat ZNF845 91664 genome.wustl.edu 37 19 53856204 53856204 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138374.1 +1 validated p.K759R 0.000 176 0% 126 37.3% - - possibly_damaging(0.751) tolerated(0.39) neutral(0.292) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF525 170958 genome.wustl.edu 37 19 53879053 53879053 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000474037 +1 known p.E16* 0.791 445 0% 317 23.7% - - - - - HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF765 91661 genome.wustl.edu 37 19 53911579 53911579 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001040185.1 +1 provisional p.Y257 0.000 237 0% 74 28.4% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF765 91661 genome.wustl.edu 37 19 53911764 53911764 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001040185.1 +1 provisional p.R319I 0.129 186 0% 71 35.2% - - benign(0.002) tolerated(0.16) neutral(0.059) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF761 388561 genome.wustl.edu 37 19 53958261 53958261 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001008401.3 +1 validated p.S167Y 0.000 289 0% 183 36.6% - - - - - NULL ZNF761 388561 genome.wustl.edu 37 19 53959105 53959105 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001008401.3 +1 validated p.S448 0.000 222 0% 105 33.3% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_Multiheme cytochromes ZNF761 388561 genome.wustl.edu 37 19 53959648 53959648 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001008401.3 +1 validated p.T629 0.998 224 0.9% 133 23.3% - - - - - superfamily_Multiheme cytochromes ZNF761 388561 genome.wustl.edu 37 19 53959722 53959722 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001008401.3 +1 validated p.R654I 0.725 180 0% 88 30.7% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_Multiheme cytochromes MIR512-2 574459 genome.wustl.edu 37 19 54172487 54172487 + RNA SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000384912 +1 known NULL 0.001 32 0% 40 22.5% - - - - - - NLRP12 91662 genome.wustl.edu 37 19 54313401 54313401 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144687.2 -1 reviewed p.I504 0.191 77 0% 88 45.5% - - - - - NULL PRKCG 5582 genome.wustl.edu 37 19 54385776 54385776 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002739.3 +1 reviewed p.D10N 1.000 20 0% 55 45.5% - - benign(0.016) deleterious(0.02) neutral(0.384) superfamily_SSF57889 PRKCG 5582 genome.wustl.edu 37 19 54403553 54403553 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002739.3 +1 reviewed p.G450C 1.000 81 0% 135 41.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase NDUFA3 4696 genome.wustl.edu 37 19 54606430 54606430 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004542.3 +1 validated p.A7T 0.024 43 0% 74 32.4% - - benign(0.08) tolerated(0.16) neutral(0.065) NULL TFPT 29844 genome.wustl.edu 37 19 54618638 54618638 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013342.3 -1 validated p.E4 0.997 57 1.8% 77 36.4% - - - - - NULL CNOT3 4849 genome.wustl.edu 37 19 54649465 54649465 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000440571 +1 known p.T127M 0.967 56 0% 133 39.8% - - - - - HMMPfam_Not3 LENG1 79165 genome.wustl.edu 37 19 54660701 54660701 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024316.1 -1 provisional p.Q125 1.000 44 0% 99 35.4% - - - - - NULL TMC4 147798 genome.wustl.edu 37 19 54664662 54664662 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001145303.1 -1 validated p.F648L 1.000 67 0% 151 28.5% - - unknown(0) deleterious(0.04) - NULL MBOAT7 79143 genome.wustl.edu 37 19 54677879 54677879 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024298.3 -1 reviewed p.W426C 1.000 54 0% 95 11.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL MBOAT7 79143 genome.wustl.edu 37 19 54687462 54687462 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000338624 -1 known p.R15C 0.000 44 0% 95 44.2% - - - - - NULL TSEN34 79042 genome.wustl.edu 37 19 54697062 54697062 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001077446.2 +1 reviewed p.A260T 1.000 48 0% 97 35.1% - - probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_tRNA_int_endo,superfamily_tRNA_int_endo_C LILRA5 353514 genome.wustl.edu 37 19 54822743 54822743 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021250.2 -1 reviewed p.R218H 0.003 64 0% 51 29.4% - - benign(0.065) tolerated(0.29) neutral(0.034) HMMSmart_SM00409,superfamily_Immunoglobulin LILRA4 23547 genome.wustl.edu 37 19 54844846 54844846 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012276.3 -1 reviewed p.I499 0.000 164 0% 210 38.6% - - - - - NULL LILRA4 23547 genome.wustl.edu 37 19 54849679 54849679 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012276.3 -1 reviewed p.L115M 0.963 67 0% 86 31.4% - - possibly_damaging(0.54) deleterious(0.02) deleterious(0.566) HMMSmart_SM00409,superfamily_Immunoglobulin LILRA4 23547 genome.wustl.edu 37 19 54850165 54850165 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012276.3 -1 reviewed p.S14R 0.009 110 0% 179 40.2% - - unknown(0) deleterious(0.03) - NULL LAIR1 3903 genome.wustl.edu 37 19 54870168 54870168 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000444687 -1 known p.P50 0.000 89 0% 119 10.1% - - - - - NULL TTYH1 57348 genome.wustl.edu 37 19 54942081 54942081 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005367.1 +1 reviewed p.Q344* 0.982 28 0% 54 38.9% - - - - - HMMPfam_Tweety LENG8 114823 genome.wustl.edu 37 19 54963305 54963305 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_052925.2 +1 validated p.R25Q 0.966 48 0% 94 36.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL LENG8 114823 genome.wustl.edu 37 19 54965734 54965734 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_052925.2 +1 validated p.Q184H 0.990 9 0.000 44 0.523 - - probably_damaging(0.964) deleterious(0.03) deleterious(0.771) NULL LENG9 94059 genome.wustl.edu 37 19 54973606 54973606 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198988.1 -1 validated p.P390 0.000 16 0% 26 38.5% - - - - - superfamily_Cyc_nuc_Pdiester LENG9 94059 genome.wustl.edu 37 19 54973820 54973820 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198988.1 -1 validated p.R319H 0.038 27 0% 44 29.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL LENG9 94059 genome.wustl.edu 37 19 54973908 54973908 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198988.1 -1 validated p.A290T 0.000 15 0% 33 45.5% - - benign(0) tolerated(0.35) neutral(0.021) NULL KIR3DX1 90011 genome.wustl.edu 37 19 55053773 55053773 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000221567 +1 known p.C347 0.003 150 0% 102 25.5% - - - - - NULL LILRA1 11024 genome.wustl.edu 37 19 55106566 55106566 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006863.1 +1 provisional p.G120 0.699 172 0% 137 37.2% - - - - - superfamily_Immunoglobulin LILRA1 11024 genome.wustl.edu 37 19 55107944 55107944 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006863.1 +1 provisional p.L417I 0.005 100 0% 102 28.4% - - probably_damaging(1) tolerated(0.13) deleterious(0.752) HMMSmart_SM00409,superfamily_Immunoglobulin FCAR 2204 genome.wustl.edu 37 19 55401211 55401211 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002000.2 +1 reviewed p.T282 0.000 35 0% 42 19% - - - - - NULL EPS8L1 54869 genome.wustl.edu 37 19 55593267 55593267 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_133180.2 +1 reviewed p.E301K 1.000 7 0.000 21 0.381 - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL TNNT1 7138 genome.wustl.edu 37 19 55644307 55644307 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003283.4 -1 reviewed p.G271 0.993 36 0% 52 11.5% - - - - - NULL PTPRH 5794 genome.wustl.edu 37 19 55693136 55693136 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002842.3 -1 validated p.K1112E 0.000 49 0% 104 29.8% - - benign(0) tolerated(1) - NULL PTPRH 5794 genome.wustl.edu 37 19 55708026 55708026 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002842.3 -1 validated p.Q707H 0.000 27 0% 37 21.6% - - probably_damaging(0.991) tolerated(0.11) deleterious(0.716) NULL PTPRH 5794 genome.wustl.edu 37 19 55713531 55713531 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002842.3 -1 validated p.T349I 0.010 191 0% 197 37.6% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PPP6R1 22870 genome.wustl.edu 37 19 55748064 55748064 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014931.3 -1 validated p.W645* 1.000 76 0% 155 39.4% - - - - - NULL PPP6R1 22870 genome.wustl.edu 37 19 55748280 55748280 + Splice_Site SNP C C T rs111505387 byCluster TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014931.3 -1 validated e15+1 1.000 142 0% 214 33.2% - - - - - - PPP6R1 22870 genome.wustl.edu 37 19 55756934 55756934 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014931.3 -1 validated p.G114S 0.000 26 0% 71 36.6% - - benign(0.01) tolerated(0.32) neutral(0.025) NULL SUV420H2 84787 genome.wustl.edu 37 19 55857622 55857622 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032701.3 +1 validated p.L204 0.513 71 0% 147 39.5% - - - - - HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain FAM71E2 284418 genome.wustl.edu 37 19 55874079 55874079 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001145402.1 -1 predicted p.V58M 0.001 11 0% 17 58.8% - - probably_damaging(0.998) tolerated(0.07) deleterious(0.793) NULL TMEM190 147744 genome.wustl.edu 37 19 55889418 55889418 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_139172.1 +1 provisional p.S127 0.179 15 0% 48 41.7% - - - - - NULL RPL28 6158 genome.wustl.edu 37 19 55902965 55902965 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001136135.1 +1 reviewed p.A123V 0.007 172 0% 293 34.5% - - unknown(0) deleterious(0.01) - HMMPfam_Ribosomal_L28e ZNF628 89887 genome.wustl.edu 37 19 55992659 55992659 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033113.2 +1 validated p.A29 0.549 17 0% 44 34.1% - - - - - superfamily_C2H2 and C2HC zinc fingers LOC100288302 100288302 genome.wustl.edu 37 19 55995365 55995365 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002343697.1 -1 model p.A86T 0.952 19 0% 47 34% - - - - - NULL SSC5D 284297 genome.wustl.edu 37 19 56011878 56011878 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001144950.1 +1 provisional p.A775V 0.960 27 0% 61 39.3% - - probably_damaging(0.999) tolerated(1) deleterious(0.490) HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like SSC5D 284297 genome.wustl.edu 37 19 56028940 56028940 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001144950.1 +1 provisional p.T1099 0.594 93 0% 170 30.6% - - - - - NULL ZNF524 147807 genome.wustl.edu 37 19 56113609 56113609 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153219.2 +1 validated p.R44Q 0.014 9 0.000 38 0.395 - - probably_damaging(0.978) tolerated(0.5) neutral(0.430) NULL ZNF581 51545 genome.wustl.edu 37 19 56156014 56156014 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016535.3 +1 validated p.R26Q 0.131 37 0% 86 30.2% - - benign(0.271) tolerated(0.23) neutral(0.071) NULL U2AF2 11338 genome.wustl.edu 37 19 56172454 56172454 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007279.2 +1 reviewed p.G129S 1.000 52 0% 138 38.4% - - benign(0.026) tolerated(0.28) neutral(0.033) NULL EPN1 29924 genome.wustl.edu 37 19 56196917 56196917 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001130071.1 +1 validated p.K239N 1.000 18 0% 53 41.5% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_ENTH,superfamily_ENTH/VHS domain,HMMSmart_SM00273 EPN1 29924 genome.wustl.edu 37 19 56204316 56204316 + Splice_Site SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001130071.1 +1 validated e9-1 0.170 24 0% 66 39.4% - - - - - - EPN1 29924 genome.wustl.edu 37 19 56204351 56204351 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001130071.1 +1 validated p.F490L 1.000 23 0% 68 33.8% - - possibly_damaging(0.444) tolerated(0.2) neutral(0.194) NULL NLRP9 338321 genome.wustl.edu 37 19 56244888 56244888 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_176820.2 -1 reviewed p.M103I 0.003 127 0% 95 32.6% - - probably_damaging(0.98) tolerated(0.22) neutral(0.466) NULL NLRP9 338321 genome.wustl.edu 37 19 56249512 56249512 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_176820.2 -1 reviewed p.L77I 0.004 156 0.6% 129 35.7% - - probably_damaging(0.999) tolerated(0.33) deleterious(0.514) HMMPfam_PAAD_DAPIN,superfamily_DEATH domain NLRP4 147945 genome.wustl.edu 37 19 56388449 56388449 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_134444.4 +1 validated p.I871 0.000 270 0% 133 30.8% - - - - - HMMSmart_SM00368,superfamily_RNI-like NLRP13 126204 genome.wustl.edu 37 19 56424169 56424169 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_176810.2 -1 validated p.E338 0.007 131 0% 52 36.5% - - - - - HMMPfam_NACHT NLRP8 126205 genome.wustl.edu 37 19 56473471 56473471 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_176811.2 +1 provisional p.D694G 0.468 165 0% 114 38.6% - - probably_damaging(0.978) tolerated(0.23) neutral(0.462) superfamily_RNI-like NLRP5 126206 genome.wustl.edu 37 19 56530718 56530718 + Missense_Mutation SNP A A T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153447.4 +1 reviewed p.Q192H 0.342 401 0% 254 18.1% - - probably_damaging(0.962) deleterious(0.04) deleterious(0.754) NULL NLRP5 126206 genome.wustl.edu 37 19 56531751 56531751 + Missense_Mutation SNP A A T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153447.4 +1 reviewed p.Q211H 0.026 169 0% 103 17.5% - - possibly_damaging(0.92) tolerated(0.13) deleterious(0.623) NULL NLRP5 126206 genome.wustl.edu 37 19 56565172 56565172 + Silent SNP C C T rs187087702 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153447.4 +1 reviewed p.L1099 0.043 67 0% 68 41.2% - - - - - superfamily_SSF52047 ZSCAN5B 342933 genome.wustl.edu 37 19 56701770 56701770 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080456.2 -1 validated p.S305F 0.000 257 0% 244 41.4% - - benign(0.059) tolerated(0.13) neutral(0.257) NULL ZNF582 147948 genome.wustl.edu 37 19 56895949 56895949 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144690.1 -1 provisional p.G279 0.008 103 0% 56 30.4% - - - - - superfamily_SSF57667 ZNF667 63934 genome.wustl.edu 37 19 56953842 56953842 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022103.3 -1 validated p.C174 0.163 183 0.5% 62 32.3% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF471 57573 genome.wustl.edu 37 19 57036113 57036113 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020813.2 +1 validated p.R226K 0.997 78 0% 17 58.8% - - possibly_damaging(0.923) tolerated(0.13) deleterious(0.625) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF471 57573 genome.wustl.edu 37 19 57036956 57036956 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020813.2 +1 validated p.R507K 1.000 143 0% 47 23.4% - - probably_damaging(0.994) tolerated(0.18) deleterious(0.508) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZFP28 140612 genome.wustl.edu 37 19 57060415 57060415 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020828.1 +1 provisional p.R204 0.000 83 0% 52 44.2% - - - - - NULL ZFP28 140612 genome.wustl.edu 37 19 57065896 57065896 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020828.1 +1 provisional p.R581I 0.924 95 0% 52 17.3% - - probably_damaging(0.999) tolerated(0.13) deleterious(0.743) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF470 388566 genome.wustl.edu 37 19 57089719 57089719 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001001668.3 +1 validated p.R641I 0.921 214 0% 60 31.7% - - probably_damaging(0.98) deleterious(0.04) deleterious(0.773) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF835 90485 genome.wustl.edu 37 19 57175727 57175727 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005850.1 -1 provisional p.C302 0.216 48 0% 50 28% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 USP29 57663 genome.wustl.edu 37 19 57641907 57641907 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020903.2 +1 validated p.L622M 0.004 59 0% 38 31.6% - - probably_damaging(0.969) deleterious(0.04) deleterious(0.760) HMMPfam_UCH,superfamily_SSF54001 DUXA 503835 genome.wustl.edu 37 19 57669725 57669725 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001012729.1 -1 validated p.E137* 0.478 173 0% 171 42.1% - - - - - HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like ZNF460 10794 genome.wustl.edu 37 19 57796003 57796003 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006635.3 +1 validated p.V39M 0.040 270 0% 212 33% - - benign(0.04) deleterious(0) neutral(0.447) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box ZNF460 10794 genome.wustl.edu 37 19 57803566 57803566 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006635.3 +1 validated p.G553R 0.137 97 0% 58 43.1% - - benign(0.067) deleterious(0.01) neutral(0.410) NULL ZNF304 57343 genome.wustl.edu 37 19 57868363 57868363 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020657.2 +1 validated p.D376Y 0.000 190 0% 143 39.2% - - probably_damaging(0.986) tolerated(0.23) deleterious(0.476) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF548 147694 genome.wustl.edu 37 19 57910686 57910686 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152909.3 +1 validated p.K344T 0.965 154 0% 101 34.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF548 147694 genome.wustl.edu 37 19 57910977 57910977 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152909.3 +1 validated p.R441I 0.037 171 0% 71 39.4% - - possibly_damaging(0.86) deleterious(0) deleterious(0.777) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF17 7565 genome.wustl.edu 37 19 57932052 57932052 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006959.2 +1 validated p.R398C 0.000 141 1.4% 120 16.7% - - probably_damaging(0.996) deleterious(0.04) deleterious(0.810) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF17 7565 genome.wustl.edu 37 19 57932123 57932123 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006959.2 +1 validated p.K421N 0.146 167 0% 104 34.6% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF549 256051 genome.wustl.edu 37 19 58049212 58049212 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153263.1 +1 provisional p.C267W 1.000 113 0% 51 33.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF550 162972 genome.wustl.edu 37 19 58059348 58059348 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001039654.1 -1 provisional p.Q47H 0.002 87 0% 48 35.4% - - benign(0.09) tolerated(0.07) neutral(0.326) HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF416 55659 genome.wustl.edu 37 19 58083866 58083866 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017879.1 -1 provisional p.G469E 0.000 123 0% 91 41.8% - - benign(0.001) tolerated(0.42) neutral(0.014) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZIK1 284307 genome.wustl.edu 37 19 58102207 58102207 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001010879.2 +1 provisional p.R343I 0.085 177 0% 128 39.8% - - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_Multiheme cytochromes ZNF530 348327 genome.wustl.edu 37 19 58118486 58118486 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020880.3 +1 validated p.S531 0.000 210 0% 138 37% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF134 7693 genome.wustl.edu 37 19 58131631 58131631 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003435.3 +1 provisional p.T48 0.000 103 0% 78 39.7% - - - - - superfamily_C2H2 and C2HC zinc fingers ZNF134 7693 genome.wustl.edu 37 19 58132077 58132077 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003435.3 +1 provisional p.I197S 0.326 182 0% 154 35.1% - - benign(0.34) tolerated(0.05) neutral(0.453) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF154 7710 genome.wustl.edu 37 19 58213527 58213527 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001085384.1 -1 validated p.R264W 0.392 207 0.5% 135 43.7% - - benign(0.008) deleterious(0.01) neutral(0.406) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF671 79891 genome.wustl.edu 37 19 58232506 58232506 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024833.2 -1 validated p.N316 0.000 168 0% 131 36.6% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF776 284309 genome.wustl.edu 37 19 58265220 58265220 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173632.3 +1 validated p.S241Y 1.000 92 0% 68 35.3% - - benign(0.014) deleterious(0.04) neutral(0.349) superfamily_C2H2 and C2HC zinc fingers ZNF587 84914 genome.wustl.edu 37 19 58352985 58352985 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002343662.1 +1 model p.R315C 0.000 167 0.6% 88 34.1% - - possibly_damaging(0.939) deleterious(0.02) deleterious(0.768) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF587 84914 genome.wustl.edu 37 19 58353515 58353515 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002343662.1 +1 model p.E435D 0.998 154 0% 97 34% - - - - - superfamily_C2H2 and C2HC zinc fingers ZNF814 730051 genome.wustl.edu 37 19 58384253 58384253 + Frame_Shift_Del DEL T T - novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001144989.1 -1 validated p.K835fs 0.046 - - - - - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF814 730051 genome.wustl.edu 37 19 58385430 58385430 + Missense_Mutation SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001144989.1 -1 validated p.K443I 0.214 293 0% 177 32.8% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF417 147687 genome.wustl.edu 37 19 58423432 58423432 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152475.2 -1 validated p.S53 0.197 404 0% 291 32% - - - - - HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) C19orf18 147685 genome.wustl.edu 37 19 58485533 58485533 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152474.4 -1 predicted p.E54K 0.000 347 0% 203 38.4% - - benign(0.036) tolerated(0.07) neutral(0.321) NULL ZNF606 80095 genome.wustl.edu 37 19 58490618 58490618 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025027.3 -1 validated p.I477S 0.999 136 0% 92 29.3% - - possibly_damaging(0.773) deleterious(0.01) deleterious(0.693) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZSCAN1 284312 genome.wustl.edu 37 19 58563879 58563879 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_182572.3 +1 validated p.A163T 0.438 14 0% 42 31% - - possibly_damaging(0.679) tolerated(0.43) neutral(0.256) NULL ZSCAN18 65982 genome.wustl.edu 37 19 58619925 58619925 + RNA SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NR_027135.1 -1 validated NULL 0.002 16 0% 17 41.2% - - - - - - ZNF329 79673 genome.wustl.edu 37 19 58639825 58639825 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024620.3 -1 validated p.G349E 1.000 188 0% 136 37.5% - - probably_damaging(1) tolerated(0.12) deleterious(0.760) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF544 27300 genome.wustl.edu 37 19 58773684 58773684 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014480.2 +1 provisional p.T571N 1.000 108 0% 78 33.3% - - probably_damaging(0.998) tolerated(0.13) deleterious(0.727) superfamily_SSF57667 ZSCAN22 342945 genome.wustl.edu 37 19 58846413 58846413 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_181846.2 +1 validated p.A82V 0.000 34 0% 51 27.5% - - benign(0) tolerated(0.39) neutral(0.016) HMMPfam_SCAN,HMMSmart_SCAN A1BG 1 genome.wustl.edu 37 19 58862864 58862864 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_130786.3 -1 reviewed p.A268V 0.000 15 0% 46 43.5% - - benign(0.124) tolerated(0.27) neutral(0.044) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin RPS5 6193 genome.wustl.edu 37 19 58904549 58904549 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001009.3 +1 reviewed p.G105 0.989 49 0% 94 30.9% - - - - - HMMPfam_Ribosomal_S7,superfamily_Ribosomal protein S7 ZNF324B 388569 genome.wustl.edu 37 19 58967005 58967005 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_207395.2 +1 validated p.H232Y 0.000 24 0% 50 48% - - benign(0.082) tolerated(0.39) neutral(0.022) NULL ZNF446 55663 genome.wustl.edu 37 19 58988774 58988774 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017908.2 +1 provisional p.E63 1.000 28 0% 65 38.5% - - - - - HMMPfam_SCAN,HMMSmart_SCAN ZNF446 55663 genome.wustl.edu 37 19 58991281 58991281 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000391694 +1 known p.P130S 0.000 7 0.000 32 0.281 - - unknown(0) - - NULL ENSG00000249146 0 genome.wustl.edu 37 19 59023537 59023537 + RNA SNP C C T rs139900180 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000514271 +1 known NULL 0.001 5 0.000 4 1.000 - - - - - - MZF1 7593 genome.wustl.edu 37 19 59080675 59080675 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003422.2 -1 validated p.W247* 1.000 35 0% 84 15.5% - - - - - NULL NRSN2 80023 genome.wustl.edu 37 20 334144 334144 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024958.2 +1 validated p.E160D 0.997 76 0% 126 34.9% - - possibly_damaging(0.893) tolerated(0.28) neutral(0.383) NULL RBCK1 10616 genome.wustl.edu 37 20 408023 408023 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031229.2 +1 reviewed p.A366T 0.997 88 0% 165 13.3% - - benign(0.003) tolerated(0.3) neutral(0.029) NULL TBC1D20 128637 genome.wustl.edu 37 20 419324 419324 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144628.2 -1 validated p.M373T 1.000 54 0% 56 35.7% - - possibly_damaging(0.923) tolerated(0.08) deleterious(0.672) NULL SLC52A3 113278 genome.wustl.edu 37 20 744468 744468 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033409.3 -1 validated p.E249D 0.000 89 0% 111 37.8% - - benign(0.057) tolerated(0.4) neutral(0.019) NULL FAM110A 83541 genome.wustl.edu 37 20 826276 826276 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001042353.1 +1 validated p.V277M 0.998 26 0% 60 43.3% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ANGPT4 51378 genome.wustl.edu 37 20 896647 896647 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015985.2 -1 reviewed p.E71* 1.000 103 0% 88 33% - - - - - NULL PSMF1 9491 genome.wustl.edu 37 20 1106243 1106243 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006814.3 +1 reviewed p.L78F 1.000 122 0% 86 41.9% - - benign(0.06) tolerated(0.27) neutral(0.038) NULL PSMF1 9491 genome.wustl.edu 37 20 1115795 1115795 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006814.3 +1 reviewed p.R133C 0.961 82 0% 80 37.5% - - probably_damaging(0.992) deleterious(0.02) deleterious(0.831) NULL SIRPB1 10326 genome.wustl.edu 37 20 1551638 1551638 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006065.3 -1 reviewed p.S299 0.000 338 0% 138 44.2% - - - - - HMMPfam_C1-set,HMMSmart_SM00407,HMMSmart_SM00409,superfamily_Immunoglobulin SIRPG 55423 genome.wustl.edu 37 20 1616217 1616217 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018556.3 -1 reviewed p.Q259 0.015 160 0% 90 28.9% - - - - - HMMSmart_SM00409,superfamily_Immunoglobulin SIRPA 140885 genome.wustl.edu 37 20 1895967 1895967 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001040022.1 +1 reviewed p.N101S 0.005 536 0% 435 33.1% - - benign(0.018) tolerated(0.05) neutral(0.346) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 SIRPA 140885 genome.wustl.edu 37 20 1918063 1918063 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001040022.1 +1 reviewed p.S455I 1.000 60 0% 82 37.8% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL TGM3 7053 genome.wustl.edu 37 20 2308984 2308984 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003245.3 +1 reviewed p.V436I 0.997 48 0% 41 31.7% - - benign(0) tolerated(1) - superfamily_Cysteine proteinases TGM3 7053 genome.wustl.edu 37 20 2321219 2321219 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003245.3 +1 reviewed p.A692T 0.172 37 0% 35 31.4% - - benign(0.047) deleterious(0.01) neutral(0.409) HMMPfam_Transglut_C,superfamily_Transglutaminase two C-terminal domains SNRPB 6628 genome.wustl.edu 37 20 2442480 2442480 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000303103 -1 known p.C264R 0.987 46 0% 48 43.8% - - possibly_damaging(0.449) deleterious(0) deleterious(0.592) NULL TMC2 117532 genome.wustl.edu 37 20 2591238 2591238 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_080751.2 +1 validated p.H529 1.000 136 0% 88 33% - - - - - NULL TMC2 117532 genome.wustl.edu 37 20 2596793 2596793 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_080751.2 +1 validated p.A628V 1.000 231 0% 122 36.1% - - benign(0.269) deleterious(0.01) neutral(0.434) HMMPfam_TMC EBF4 57593 genome.wustl.edu 37 20 2686364 2686364 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001110514.1 +1 provisional p.F89 0.958 71 0% 92 35.9% - - - - - NULL CPXM1 56265 genome.wustl.edu 37 20 2779154 2779154 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_019609.4 -1 reviewed p.R124* 1.000 22 0% 58 34.5% - - - - - HMMSmart_SM00231,superfamily_Galactose-binding domain-like PTPRA 5786 genome.wustl.edu 37 20 2998477 2998477 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002836.3 +1 reviewed p.T320M 1.000 193 0% 272 33.8% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799 LOC100289538 100289538 genome.wustl.edu 37 20 3027411 3027411 + Silent SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002344179.1 -1 model p.G147 0.000 6 0.000 17 0.235 - - - - - NULL UBOX5 22888 genome.wustl.edu 37 20 3103149 3103149 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014948.2 -1 validated p.F46L 1.000 138 0.7% 164 18.3% - - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) NULL SLC4A11 83959 genome.wustl.edu 37 20 3211616 3211616 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032034.3 -1 reviewed p.F393 0.986 230 0% 457 32.2% - - - - - HMMPfam_HCO3_cotransp SLC4A11 83959 genome.wustl.edu 37 20 3214854 3214854 + Missense_Mutation SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032034.3 -1 reviewed p.D149V 1.000 55 0% 131 29.8% - - possibly_damaging(0.855) deleterious(0.02) deleterious(0.713) superfamily_Phoshotransferase/anion transport protein SLC4A11 83959 genome.wustl.edu 37 20 3215451 3215451 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032034.3 -1 reviewed p.V76M 0.997 58 3.4% 110 30.9% - - probably_damaging(0.961) tolerated(0.1) deleterious(0.691) NULL C20orf194 25943 genome.wustl.edu 37 20 3363145 3363145 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001009984.1 -1 validated p.R31Q 1.000 73 0% 40 37.5% - - probably_damaging(0.982) deleterious(0) deleterious(0.871) NULL ATRN 8455 genome.wustl.edu 37 20 3553421 3553421 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_139321.2 +1 reviewed p.D639N 1.000 128 0% 59 11.9% - - probably_damaging(0.985) deleterious(0.01) deleterious(0.838) HMMPfam_Kelch_1,superfamily_Galactose oxidase central domain SIGLEC1 6614 genome.wustl.edu 37 20 3683945 3683945 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_023068.3 -1 reviewed p.R376Q 0.010 81 0% 125 36% - - benign(0.001) tolerated(0.95) - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin CDC25B 994 genome.wustl.edu 37 20 3781414 3781414 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021873.2 +1 reviewed p.V162M 0.998 19 0% 48 35.4% - - possibly_damaging(0.918) deleterious(0.01) deleterious(0.774) HMMPfam_M-inducer_phosp PANK2 80025 genome.wustl.edu 37 20 3891456 3891456 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153638.2 +1 reviewed p.Y405C 1.000 175 0% 82 42.7% - - possibly_damaging(0.727) tolerated(0.08) deleterious(0.565) HMMPfam_Fumble,superfamily_Actin-like ATPase domain PANK2 80025 genome.wustl.edu 37 20 3893185 3893185 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153638.2 +1 reviewed p.S439Y 0.993 124 0% 117 27.4% - - possibly_damaging(0.625) deleterious(0.02) deleterious(0.601) HMMPfam_Fumble,superfamily_Actin-like ATPase domain SMOX 54498 genome.wustl.edu 37 20 4162814 4162814 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_175839.1 +1 reviewed p.G230C 1.000 19 0% 33 36.4% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Amino_oxidase,superfamily_FAD/NAD(P)-binding domain ADRA1D 146 genome.wustl.edu 37 20 4229311 4229311 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000678.3 -1 reviewed p.G98 0.859 18 0% 27 40.7% - - - - - superfamily_Family A G protein-coupled receptor-like RASSF2 9770 genome.wustl.edu 37 20 4771115 4771115 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014737.2 -1 reviewed p.G173 0.998 85 0% 60 28.3% - - - - - NULL SLC23A2 9962 genome.wustl.edu 37 20 4880328 4880328 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005116.5 -1 reviewed p.A119T 1.000 73 0% 50 28% - - probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_Xan_ur_permease PROKR2 128674 genome.wustl.edu 37 20 5294612 5294612 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144773.2 -1 reviewed p.R135H 1.000 92 0% 128 37.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 GPCPD1 56261 genome.wustl.edu 37 20 5528403 5528403 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000418646 -1 known p.V233M 0.942 137 0% 66 45.5% - - - - - NULL GPCPD1 56261 genome.wustl.edu 37 20 5550811 5550811 + Nonsense_Mutation SNP A A T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_019593.3 -1 validated p.C377* 1.000 76 0% 36 27.8% - - - - - HMMPfam_GDPD,superfamily_PLC-like_Pdiesterase_TIM-brl CHGB 1114 genome.wustl.edu 37 20 5903969 5903969 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001819.2 +1 reviewed p.E393 0.012 108 0% 65 41.5% - - - - - HMMPfam_Granin MCM8 84515 genome.wustl.edu 37 20 5974267 5974267 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032485.4 +1 reviewed p.V786I 0.986 84 0% 62 37.1% - - benign(0) tolerated(0.42) neutral(0.014) NULL LRRN4 164312 genome.wustl.edu 37 20 6022058 6022058 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152611.3 -1 validated p.Q611H 1.000 12 0% 27 22.2% - - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III FERMT1 55612 genome.wustl.edu 37 20 6090996 6090996 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017671.4 -1 reviewed p.A232V 1.000 240 0.4% 131 35.1% - - benign(0.035) tolerated(0.09) neutral(0.298) HMMSmart_SM00295 PAK7 57144 genome.wustl.edu 37 20 9546657 9546657 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020341.3 -1 reviewed p.I455 0.922 250 0% 168 26.8% - - - - - HMMSmart_S_TKc,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase PAK7 57144 genome.wustl.edu 37 20 9546900 9546900 + Silent SNP C C T rs185081269 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020341.3 -1 reviewed p.P374 0.130 161 0% 105 41.9% - - - - - NULL MKKS 8195 genome.wustl.edu 37 20 10389314 10389314 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018848.2 -1 reviewed p.L375I 1.000 105 0% 42 42.9% - - probably_damaging(0.994) tolerated(0.16) deleterious(0.512) HMMPfam_Cpn60_TCP1,superfamily_GroEL equatorial domain-like BTBD3 22903 genome.wustl.edu 37 20 11900441 11900441 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014962.2 +1 validated p.R165C 1.000 160 0% 45 44.4% - - benign(0.251) deleterious(0.03) neutral(0.390) HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB ESF1 51575 genome.wustl.edu 37 20 13698077 13698077 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016649.3 -1 provisional p.L734M 1.000 396 0% 181 40.9% - - probably_damaging(0.998) tolerated(0.26) deleterious(0.508) NULL C20orf7 79133 genome.wustl.edu 37 20 13797125 13797125 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024120.4 +1 reviewed p.N265K 1.000 192 0% 70 38.6% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_S-adenosyl-L-methionine-dependent methyltransferases SEL1L2 80343 genome.wustl.edu 37 20 13912271 13912271 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025229.1 -1 validated p.I87 0.000 194 0% 115 37.4% - - - - - NULL KIF16B 55614 genome.wustl.edu 37 20 16337097 16337097 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024704.3 -1 validated p.R1167W 1.000 99 0% 37 43.2% - - probably_damaging(1) tolerated(0.18) deleterious(0.556) NULL OTOR 56914 genome.wustl.edu 37 20 16730569 16730569 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020157.2 +1 reviewed p.E93* 0.301 129 0% 32 28.1% - - - - - HMMSmart_SH3,superfamily_SH3,HMMPfam_SH3_2 BFSP1 631 genome.wustl.edu 37 20 17475474 17475474 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001195.3 -1 reviewed p.E415* 0.001 163 0% 153 41.8% - - - - - NULL SNX5 27131 genome.wustl.edu 37 20 17933321 17933321 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014426.2 -1 reviewed p.S141 0.939 89 0% 74 43.2% - - - - - HMMPfam_PX,superfamily_PX domain DZANK1 55184 genome.wustl.edu 37 20 18434408 18434408 + Missense_Mutation SNP G G A rs192931661 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001099407.1 -1 validated p.R148C 0.025 368 0% 139 30.2% - - possibly_damaging(0.861) tolerated(0.18) neutral(0.389) NULL SEC23B 10483 genome.wustl.edu 37 20 18496339 18496339 + Missense_Mutation SNP G G A rs121918221 TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006363.4 +1 reviewed p.E109K 1.000 207 0% 154 38.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Znf_Sec23_Sec24,superfamily_SSF81995 SLC24A3 57419 genome.wustl.edu 37 20 19566150 19566150 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020689.3 +1 validated p.L192M 1.000 484 0% 279 33.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Na_Ca_ex SLC24A3 57419 genome.wustl.edu 37 20 19677550 19677550 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020689.3 +1 validated p.R534I 1.000 69 0% 37 45.9% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Na_Ca_ex C20orf26 26074 genome.wustl.edu 37 20 20177324 20177324 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015585.3 +1 validated p.F567L 1.000 188 0% 140 40% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_Acyl-CoA N-acyltransferases (Nat) C20orf26 26074 genome.wustl.edu 37 20 20258056 20258056 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015585.3 +1 validated p.S917I 0.000 79 0% 102 13.7% - - possibly_damaging(0.729) tolerated(0.09) deleterious(0.562) superfamily_FAD/NAD(P)-binding domain C20orf26 26074 genome.wustl.edu 37 20 20278904 20278904 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015585.3 +1 validated p.T1099I 0.199 87 0% 87 35.6% - - possibly_damaging(0.669) deleterious(0.05) deleterious(0.583) NULL XRN2 22803 genome.wustl.edu 37 20 21306940 21306940 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012255.3 +1 reviewed p.K33N 1.000 166 0.6% 55 47.3% - - benign(0.011) tolerated(0.35) neutral(0.021) HMMPfam_XRN_N XRN2 22803 genome.wustl.edu 37 20 21329005 21329005 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012255.3 +1 reviewed p.G600 0.943 92 0% 38 26.3% - - - - - NULL XRN2 22803 genome.wustl.edu 37 20 21346285 21346285 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012255.3 +1 reviewed p.G800D 1.000 147 0% 86 39.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SSTR4 6754 genome.wustl.edu 37 20 23016480 23016480 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001052.2 +1 validated p.R120 0.597 35 0% 100 40% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 NAPB 63908 genome.wustl.edu 37 20 23358077 23358077 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022080.2 -1 validated p.T278I 1.000 118 0% 63 42.9% - - benign(0.248) deleterious(0) deleterious(0.470) superfamily_TPR-like CST9 128822 genome.wustl.edu 37 20 23586481 23586481 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001008693.2 -1 reviewed p.R7 0.000 49 0% 57 47.4% - - - - - NULL CST4 1472 genome.wustl.edu 37 20 23669411 23669411 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001899.2 -1 reviewed p.R66C 0.002 94 0% 106 43.4% - - possibly_damaging(0.946) deleterious(0) deleterious(0.835) HMMPfam_Cystatin,HMMSmart_CY,superfamily_SSF54403 C20orf3 57136 genome.wustl.edu 37 20 24954345 24954345 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000451442 -1 known p.A104V 1.000 85 0% 72 48.6% - - - - - superfamily_Calcium-dependent phosphotriesterase ENTPD6 955 genome.wustl.edu 37 20 25187220 25187220 + Silent SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001247.2 +1 reviewed p.I16 0.000 137 0% 212 28.8% - - - - - NULL ENTPD6 955 genome.wustl.edu 37 20 25204792 25204792 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000447877 +1 known p.T273M 0.189 58 0% 101 40.6% - - - - - HMMPfam_GDA1_CD39 PYGB 5834 genome.wustl.edu 37 20 25277087 25277087 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002862.3 +1 reviewed p.Y821D 1.000 60 0% 94 20.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Phosphorylase,superfamily_SSF53756 ABHD12 26090 genome.wustl.edu 37 20 25290179 25290179 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015600.3 -1 validated p.R218W 0.995 47 0% 79 35.4% - - possibly_damaging(0.906) deleterious(0.01) deleterious(0.765) HMMPfam_Abhydrolase_1,superfamily_SSF53474 NINL 22981 genome.wustl.edu 37 20 25481602 25481602 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025176.4 -1 validated p.L302 0.131 94 0% 144 36.8% - - - - - superfamily_SSF47473 REM1 28954 genome.wustl.edu 37 20 30070204 30070204 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014012.4 +1 reviewed p.R180W 1.000 35 2.9% 64 40.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases HM13 81502 genome.wustl.edu 37 20 30154037 30154037 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178581.1 +1 reviewed p.A325T 1.000 146 0% 244 37.7% - - possibly_damaging(0.705) tolerated(0.05) deleterious(0.599) HMMSmart_PSN,HMMPfam_Peptidase_A22B MYLK2 85366 genome.wustl.edu 37 20 30409446 30409446 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033118.3 +1 reviewed p.R226S 0.052 45 0% 97 36.1% - - benign(0.051) tolerated(0.23) neutral(0.045) NULL FOXS1 2307 genome.wustl.edu 37 20 30432900 30432900 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004118.3 -1 reviewed p.G149D 0.039 21 0% 47 27.7% - - benign(0) tolerated(0.14) neutral(0.249) NULL TTLL9 164395 genome.wustl.edu 37 20 30530767 30530767 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000375922 +1 known p.E322* 0.745 169 0% 197 33% - - - - - NULL C20orf160 140706 genome.wustl.edu 37 20 30602753 30602753 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_080625.3 +1 validated p.R26H 0.985 42 0% 70 34.3% - - probably_damaging(0.999) deleterious(0.05) deleterious(0.836) NULL TM9SF4 9777 genome.wustl.edu 37 20 30723959 30723959 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014742.3 +1 validated p.Y71S 1.000 101 0% 71 32.4% - - possibly_damaging(0.935) tolerated(0.58) neutral(0.386) HMMPfam_EMP70 TM9SF4 9777 genome.wustl.edu 37 20 30729347 30729347 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014742.3 +1 validated p.L93I 1.000 58 0% 69 43.5% - - benign(0.025) tolerated(0.08) neutral(0.301) HMMPfam_EMP70 PLAGL2 5326 genome.wustl.edu 37 20 30784582 30784582 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002657.3 -1 reviewed p.A388 0.998 37 0% 78 33.3% - - - - - NULL ASXL1 171023 genome.wustl.edu 37 20 31022494 31022494 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015338.5 +1 reviewed p.G660D 1.000 13 0% 15 40% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL BPIFB2 80341 genome.wustl.edu 37 20 31606493 31606493 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025227.1 +1 reviewed p.T240 0.011 40 0% 95 35.8% - - - - - superfamily_Bactericidal permeability-increasing protein BPI NCOA6 23054 genome.wustl.edu 37 20 33328172 33328172 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014071.2 -1 reviewed p.S1963N 1.000 68 0% 32 40.6% - - benign(0.027) tolerated(0.29) neutral(0.031) NULL NCOA6 23054 genome.wustl.edu 37 20 33356354 33356354 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014071.2 -1 reviewed p.R143* 1.000 141 0% 90 31.1% - - - - - NULL MYH7B 57644 genome.wustl.edu 37 20 33581220 33581220 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020884.3 +1 reviewed p.A839 0.000 38 0% 56 33.9% - - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases TRPC4AP 26133 genome.wustl.edu 37 20 33594318 33594318 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015638.2 -1 validated p.F583V 1.000 165 0% 215 36.7% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL PROCR 10544 genome.wustl.edu 37 20 33762595 33762595 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006404.3 +1 reviewed p.L54P 0.000 32 0% 43 30.2% - - benign(0.016) tolerated(0.06) neutral(0.323) superfamily_MHC antigen-recognition domain GDF5 8200 genome.wustl.edu 37 20 34021968 34021968 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000557.2 -1 reviewed p.D415 0.977 68 0% 96 10.4% - - - - - HMMPfam_TGF_beta,HMMSmart_TGFB,superfamily_SSF57501 CEP250 11190 genome.wustl.edu 37 20 34060643 34060643 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007186.3 +1 reviewed p.R399H 0.998 198 0% 125 15.2% - - benign(0.009) deleterious(0.03) neutral(0.365) NULL CEP250 11190 genome.wustl.edu 37 20 34067470 34067470 + Splice_Site SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007186.3 +1 reviewed e16-1 1.000 86 0% 71 32.4% - - - - - - RBM12 10137 genome.wustl.edu 37 20 34241450 34241450 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006047.4 -1 reviewed p.R599C 1.000 133 0% 146 20.5% - - benign(0.069) tolerated(0.13) neutral(0.257) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD NFS1 9054 genome.wustl.edu 37 20 34260752 34260752 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021100.3 -1 reviewed p.R412H 1.000 92 0% 112 38.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Aminotran_5,superfamily_PLP-dependent transferases NFS1 9054 genome.wustl.edu 37 20 34268659 34268659 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021100.3 -1 reviewed p.G264R 1.000 156 0% 166 39.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Aminotran_5,superfamily_PLP-dependent transferases,PatternScan_AA_TRANSFER_CLASS_5 NFS1 9054 genome.wustl.edu 37 20 34285711 34285711 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021100.3 -1 reviewed p.V73 0.550 85 0% 146 29.5% - - - - - HMMPfam_Aminotran_5,superfamily_PLP-dependent transferases PHF20 51230 genome.wustl.edu 37 20 34528871 34528871 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016436.4 +1 validated p.S933N 0.633 44 0% 57 36.8% - - benign(0.001) tolerated(0.67) neutral(0.003) NULL SCAND1 51282 genome.wustl.edu 37 20 34542064 34542064 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016558.2 -1 reviewed p.P48H 0.000 5 0.000 21 0.381 - - possibly_damaging(0.734) deleterious(0.01) deleterious(0.674) NULL TGIF2 60436 genome.wustl.edu 37 20 35207299 35207299 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021809.5 +1 reviewed p.R41H 1.000 50 0% 78 34.6% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like TGIF2 60436 genome.wustl.edu 37 20 35219329 35219329 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021809.5 +1 reviewed p.I70T 1.000 33 0% 38 55.3% - - probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like SOGA1 140710 genome.wustl.edu 37 20 35431262 35431262 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_199181.2 -1 validated p.S874R 0.970 21 0% 34 41.2% - - possibly_damaging(0.513) deleterious(0.02) deleterious(0.555) NULL RBL1 5933 genome.wustl.edu 37 20 35695156 35695156 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002895.2 -1 reviewed p.P273T 1.000 202 0% 231 30.7% - - possibly_damaging(0.838) tolerated(0.09) deleterious(0.617) NULL SRC 6714 genome.wustl.edu 37 20 36022370 36022370 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005417.3 +1 reviewed p.A141 0.984 44 0% 62 16.1% - - - - - HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain CTNNBL1 56259 genome.wustl.edu 37 20 36361363 36361363 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030877.3 +1 reviewed p.R38H 0.729 149 0% 87 41.4% - - benign(0) tolerated(0.61) neutral(0.004) NULL TTI1 9675 genome.wustl.edu 37 20 36640077 36640077 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014657.1 -1 predicted p.H714 0.870 41 0% 35 40% - - - - - superfamily_ARM-type_fold TGM2 7052 genome.wustl.edu 37 20 36767965 36767965 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004613.2 -1 reviewed p.V397 1.000 74 0% 77 29.9% - - - - - superfamily_Cysteine proteinases BPI 671 genome.wustl.edu 37 20 36940320 36940320 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001725.2 +1 reviewed p.R198Q 0.000 76 0% 54 35.2% - - probably_damaging(0.973) tolerated(0.35) neutral(0.435) HMMPfam_LBP_BPI_CETP,HMMSmart_BPI1,superfamily_Bactericidal_perm-incr_a/b_dom RALGAPB 57148 genome.wustl.edu 37 20 37179787 37179787 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020336.2 +1 validated p.F1028C 1.000 222 0% 51 33.3% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ARHGAP40 343578 genome.wustl.edu 37 20 37255842 37255842 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000373345 +1 known p.G128V 0.863 56 0% 50 42% - - probably_damaging(0.99) deleterious(0.02) deleterious(0.825) NULL TOP1 7150 genome.wustl.edu 37 20 39690101 39690101 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003286.2 +1 reviewed p.K42N 1.000 208 0% 62 29% - - unknown(0) deleterious(0.01) - NULL TOP1 7150 genome.wustl.edu 37 20 39750388 39750388 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003286.2 +1 reviewed p.A668D 1.000 200 0% 104 12.5% - - possibly_damaging(0.879) tolerated(0.14) deleterious(0.592) superfamily_Eukaryotic DNA topoisomerase I dispensable insert domain,superfamily_DNA breaking-rejoining enzymes,HMMSmart_SM00435,HMMPfam_Topoisom_I PLCG1 5335 genome.wustl.edu 37 20 39794395 39794395 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002660.2 +1 reviewed p.T576 0.134 32 0% 55 12.7% - - - - - HMMPfam_SH2,HMMSmart_SH2,HMMSmart_PH,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_SSF50729,superfamily_SSF55550 ZHX3 23051 genome.wustl.edu 37 20 39832976 39832976 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015035.3 -1 reviewed p.A194V 1.000 107 0% 57 29.8% - - benign(0.025) tolerated(0.45) neutral(0.013) NULL CHD6 84181 genome.wustl.edu 37 20 40033382 40033382 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032221.3 -1 reviewed p.S2667P 1.000 105 0% 104 36.5% - - benign(0) tolerated(0.19) neutral(0.050) NULL CHD6 84181 genome.wustl.edu 37 20 40045242 40045242 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032221.3 -1 reviewed p.A2158T 0.043 65 0% 45 15.6% - - benign(0.001) tolerated(0.14) neutral(0.249) NULL CHD6 84181 genome.wustl.edu 37 20 40126812 40126812 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032221.3 -1 reviewed p.N324H 1.000 49 0% 18 27.8% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Chromo,HMMSmart_SM00298,superfamily_Chromo domain-like PTPRT 11122 genome.wustl.edu 37 20 40735480 40735480 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000454126 -1 known p.S750F 1.000 97 0% 68 23.5% - - - - - HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II PTPRT 11122 genome.wustl.edu 37 20 40747080 40747080 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_133170.3 -1 reviewed p.S1001N 1.000 61 0% 35 40% - - possibly_damaging(0.799) tolerated(0.1) deleterious(0.587) HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II L3MBTL1 26013 genome.wustl.edu 37 20 42157296 42157296 + Splice_Site SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015478.5 +1 reviewed e5-1 0.799 71 0% 38 15.8% - - - - - - L3MBTL1 26013 genome.wustl.edu 37 20 42168925 42168925 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015478.5 +1 reviewed p.V680F 1.000 36 0% 48 43.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL IFT52 51098 genome.wustl.edu 37 20 42271137 42271137 + Missense_Mutation SNP A A T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016004.2 +1 validated p.E380V 1.000 152 0% 142 41.5% - - probably_damaging(1) tolerated(0.12) deleterious(0.760) NULL GDAP1L1 78997 genome.wustl.edu 37 20 42885840 42885840 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000445952 +1 known p.R23C 0.998 18 0% 28 46.4% - - - - - HMMPfam_GST_N,superfamily_Thioredoxin-like HNF4A 3172 genome.wustl.edu 37 20 43034771 43034771 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000372920 +1 known p.R94W 0.997 22 0% 43 34.9% - - unknown(0) - - NULL HNF4A 3172 genome.wustl.edu 37 20 43036075 43036075 + Missense_Mutation SNP C C G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000457.3 +1 reviewed p.C115W 1.000 47 0% 100 33% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C4,HMMSmart_SM00399,superfamily_Glucocorticoid receptor-like (DNA-binding domain) WISP2 8839 genome.wustl.edu 37 20 43353476 43353476 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003881.2 +1 reviewed p.D125 0.983 10 0% 13 53.8% - - - - - HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1 STK4 6789 genome.wustl.edu 37 20 43629144 43629144 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006282.2 +1 reviewed p.D315Y 1.000 102 0% 44 34.1% - - benign(0.115) deleterious(0) neutral(0.454) NULL SEMG1 6406 genome.wustl.edu 37 20 43837158 43837158 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003007.3 +1 reviewed p.S407Y 0.000 89 0% 46 26.1% - - benign(0.115) tolerated(0.43) neutral(0.022) HMMPfam_Semenogelin WFDC6 140870 genome.wustl.edu 37 20 44168013 44168013 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_080827.1 -1 reviewed p.P12S 0.003 102 0% 53 34% - - possibly_damaging(0.771) tolerated(0.13) deleterious(0.539) NULL WFDC8 90199 genome.wustl.edu 37 20 44207873 44207873 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_130896.2 -1 reviewed p.R5Q 0.000 338 0.3% 177 36.2% - - possibly_damaging(0.482) - - NULL ACOT8 10005 genome.wustl.edu 37 20 44477248 44477248 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005469.2 -1 reviewed p.R110H 1.000 74 0% 92 15.2% - - unknown(0) - - HMMPfam_Acyl_CoA_thio,superfamily_SSF54637 ZNF335 63925 genome.wustl.edu 37 20 44587981 44587981 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022095.3 -1 reviewed p.S704 1.000 35 0% 61 13.1% - - - - - superfamily_C2H2 and C2HC zinc fingers ZNF335 63925 genome.wustl.edu 37 20 44588938 44588938 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022095.3 -1 reviewed p.H643 0.102 62 0% 117 40.2% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers MMP9 4318 genome.wustl.edu 37 20 44640922 44640922 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004994.2 +1 reviewed p.D382N 1.000 25 0% 88 33% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) "HMMPfam_fn2,HMMSmart_SM00059,PatternScan_FN2_1,HMMPfam_Peptidase_M10,HMMSmart_SM00235,superfamily_Kringle-like,superfamily_Metalloproteases (""zincins"") catalytic domain" ZNF334 55713 genome.wustl.edu 37 20 45129992 45129992 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018102.3 -1 validated p.E662D 1.000 272 0% 163 26.4% - - benign(0.137) deleterious(0.05) neutral(0.357) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF334 55713 genome.wustl.edu 37 20 45131124 45131124 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018102.3 -1 validated p.R285I 0.994 120 0% 77 26% - - benign(0.018) deleterious(0) neutral(0.445) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZMYND8 23613 genome.wustl.edu 37 20 45875084 45875084 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_183047.1 -1 reviewed p.A651V 0.047 220 0% 232 32.3% - - benign(0.046) tolerated(0.09) neutral(0.299) NULL PREX1 57580 genome.wustl.edu 37 20 47249144 47249144 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020820.3 -1 reviewed p.R1434Q 1.000 49 0% 70 35.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ARFGEF2 10564 genome.wustl.edu 37 20 47626856 47626856 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006420.2 +1 reviewed p.N1224 1.000 82 0% 40 15% - - - - - HMMPfam_DUF1981,superfamily_ARM-type_fold ZNFX1 57169 genome.wustl.edu 37 20 47864123 47864123 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021035.2 -1 validated p.M1813R 1.000 180 0% 147 32.7% - - possibly_damaging(0.515) deleterious(0.01) deleterious(0.579) NULL KCNB1 3745 genome.wustl.edu 37 20 47991332 47991332 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004975.2 -1 reviewed p.W255* 1.000 87 0% 100 41% - - - - - HMMPfam_Ion_trans,superfamily_SSF81324 KCNB1 3745 genome.wustl.edu 37 20 47991438 47991438 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004975.2 -1 reviewed p.F220S 0.995 127 0% 121 28.1% - - possibly_damaging(0.659) tolerated(0.09) deleterious(0.529) superfamily_SSF81324 PTPN1 5770 genome.wustl.edu 37 20 49195120 49195120 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002827.2 +1 reviewed p.I219T 1.000 61 1.6% 56 25% - - possibly_damaging(0.803) deleterious(0) deleterious(0.747) HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II FAM65C 140876 genome.wustl.edu 37 20 49224991 49224991 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_080829.2 -1 predicted p.P293 0.760 32 0% 61 34.4% - - - - - NULL ADNP 23394 genome.wustl.edu 37 20 49510221 49510221 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015339.2 -1 reviewed p.G344S 0.959 166 0% 96 42.7% - - benign(0) tolerated(0.4) neutral(0.016) NULL NFATC2 4773 genome.wustl.edu 37 20 50048730 50048730 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173091.2 -1 reviewed p.Q866* 1.000 142 0% 239 38.1% - - - - - NULL NFATC2 4773 genome.wustl.edu 37 20 50139988 50139988 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173091.2 -1 reviewed p.P264 0.998 19 0% 35 34.3% - - - - - NULL ATP9A 10079 genome.wustl.edu 37 20 50292678 50292678 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006045.1 -1 validated p.R290Q 0.710 157 0% 124 41.9% - - benign(0.239) tolerated(0.08) neutral(0.324) NULL ATP9A 10079 genome.wustl.edu 37 20 50312684 50312684 + Splice_Site SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006045.1 -1 validated e6-1 1.000 214 0% 198 31.8% - - - - - - SALL4 57167 genome.wustl.edu 37 20 50405678 50405678 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020436.3 -1 reviewed p.R822W 1.000 30 0% 51 37.3% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL SALL4 57167 genome.wustl.edu 37 20 50407410 50407410 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020436.3 -1 reviewed p.G538W 0.988 59 0% 95 30.5% - - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL ZFP64 55734 genome.wustl.edu 37 20 50769030 50769030 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018197.2 -1 validated p.P567 0.000 17 0% 32 56.2% - - - - - NULL CYP24A1 1591 genome.wustl.edu 37 20 52774032 52774032 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000782.4 -1 reviewed p.E443D 0.995 83 0% 42 33.3% - - benign(0.002) tolerated(0.76) neutral(0.001) HMMPfam_p450,superfamily_Cytochrome_P450 DOK5 55816 genome.wustl.edu 37 20 53205225 53205225 + Splice_Site SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018431.3 +1 reviewed e4-1 1.000 164 0% 40 35% - - - - - - CBLN4 140689 genome.wustl.edu 37 20 54575848 54575848 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_080617.4 -1 reviewed p.R116I 0.999 194 0% 226 34.1% - - possibly_damaging(0.945) tolerated(0.57) neutral(0.396) HMMPfam_C1q,HMMSmart_C1Q,superfamily_TNF_like C20orf43 51507 genome.wustl.edu 37 20 55048440 55048440 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016407.3 +1 validated p.C51 1.000 187 0% 164 26.8% - - - - - HMMPfam_DUF602 BMP7 655 genome.wustl.edu 37 20 55746095 55746095 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001719.2 -1 reviewed p.V406I 1.000 59 1.7% 94 36.2% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_TGF_beta,HMMSmart_SM00204,superfamily_Cystine-knot cytokines BMP7 655 genome.wustl.edu 37 20 55758861 55758861 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001719.2 -1 reviewed p.R292Q 1.000 33 0% 81 35.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CTCFL 140690 genome.wustl.edu 37 20 56099210 56099210 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_080618.2 -1 reviewed p.E18* 0.936 157 0% 242 35.5% - - - - - NULL NPEPL1 79716 genome.wustl.edu 37 20 57288496 57288496 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024663.3 +1 validated p.T341M 1.000 31 0% 63 39.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_M17,PatternScan_CYTOSOL_AP,superfamily_Zn-dependent exopeptidases GNAS 2778 genome.wustl.edu 37 20 57429319 57429319 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001077490.1 +1 reviewed p.T271M 0.001 30 0% 52 36.5% - - unknown(0) tolerated(0.3) - NULL TUBB1 81027 genome.wustl.edu 37 20 57598608 57598608 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030773.2 +1 validated p.R77Q 1.000 156 0% 239 35.6% - - probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_Tubulin,superfamily_Tubulin_FtsZ EDN3 1908 genome.wustl.edu 37 20 57876720 57876720 + Missense_Mutation SNP A A T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000114.2 +1 reviewed p.K103M 1.000 61 0% 96 34.4% - - probably_damaging(1) tolerated(0.16) deleterious(0.559) HMMPfam_Endothelin,HMMSmart_SM00272,PatternScan_ENDOTHELIN SYCP2 10388 genome.wustl.edu 37 20 58455504 58455504 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014258.2 -1 reviewed p.K932T 1.000 207 0% 60 45% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL SYCP2 10388 genome.wustl.edu 37 20 58467060 58467060 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014258.2 -1 reviewed p.S783 0.031 164 0% 32 28.1% - - - - - NULL SYCP2 10388 genome.wustl.edu 37 20 58475262 58475262 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014258.2 -1 reviewed p.K445N 0.025 280 0% 73 39.7% - - benign(0.273) tolerated(0.06) neutral(0.352) NULL SYCP2 10388 genome.wustl.edu 37 20 58490524 58490524 + Missense_Mutation SNP G G T rs3736763 byCluster TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014258.2 -1 reviewed p.L199I 0.992 192 0% 63 33.3% - - possibly_damaging(0.585) tolerated(0.13) neutral(0.454) NULL PPP1R3D 5509 genome.wustl.edu 37 20 58514325 58514325 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006242.3 -1 reviewed p.A221V 0.997 5 0.000 16 0.562 - - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMPfam_CBM_21 FAM217B 63939 genome.wustl.edu 37 20 58519400 58519400 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022106.1 +1 predicted p.G134 0.000 81 0% 75 38.7% - - - - - NULL CDH26 60437 genome.wustl.edu 37 20 58564030 58564030 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_177980.2 +1 reviewed p.F365 0.000 60 0% 73 34.2% - - - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin CDH26 60437 genome.wustl.edu 37 20 58571804 58571804 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000370991 +1 known p.A261V 0.000 161 0% 82 37.8% - - - - - NULL CDH26 60437 genome.wustl.edu 37 20 58577893 58577893 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_177980.2 +1 reviewed p.R731K 0.128 133 0% 65 12.3% - - benign(0.019) - - NULL LSM14B 149986 genome.wustl.edu 37 20 60705625 60705625 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144703.2 +1 validated p.R238H 0.994 136 0% 177 32.2% - - probably_damaging(1) tolerated(0.07) deleterious(0.819) NULL OSBPL2 9885 genome.wustl.edu 37 20 60847239 60847239 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144498.1 +1 reviewed p.R106Q 1.000 62 0% 87 36.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Oxysterol_BP LAMA5 3911 genome.wustl.edu 37 20 60886364 60886364 + Splice_Site SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005560.3 -1 reviewed e73-1 0.816 24 0% 63 34.9% - - - - - - CABLES2 81928 genome.wustl.edu 37 20 60966046 60966046 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031215.2 -1 validated p.R473H 1.000 76 0% 209 11.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CABLES2 81928 genome.wustl.edu 37 20 60970048 60970048 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031215.2 -1 validated p.R184W 1.000 11 0% 21 23.8% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL MIR1-1 406904 genome.wustl.edu 37 20 61151558 61151558 + RNA SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000362147 +1 known NULL 1.000 66 0% 110 39.1% - - - - - - SLCO4A1 28231 genome.wustl.edu 37 20 61292443 61292443 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016354.3 +1 validated p.A346V 0.120 34 0% 76 40.8% - - benign(0) tolerated(0.74) neutral(0.002) HMMPfam_OATP,superfamily_MFS general substrate transporter COL9A3 1299 genome.wustl.edu 37 20 61452861 61452861 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001853.3 +1 reviewed p.G116 1.000 22 0% 60 36.7% - - - - - NULL COL9A3 1299 genome.wustl.edu 37 20 61458173 61458173 + Splice_Site SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001853.3 +1 reviewed e15+1 0.970 22 0% 56 33.9% - - - - - - DIDO1 11083 genome.wustl.edu 37 20 61513092 61513092 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033081.1 -1 reviewed p.R1406W 0.000 40 0% 97 30.9% - - probably_damaging(0.994) deleterious(0.01) deleterious(0.858) NULL DIDO1 11083 genome.wustl.edu 37 20 61513328 61513328 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033081.1 -1 reviewed p.S1327* 0.016 65 0% 170 32.9% - - - - - NULL DIDO1 11083 genome.wustl.edu 37 20 61542781 61542781 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033081.1 -1 reviewed p.R62W 1.000 35 0% 77 22.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL C20orf11 54994 genome.wustl.edu 37 20 61574359 61574359 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017896.2 +1 validated p.E47K 1.000 152 0% 229 37.1% - - probably_damaging(1) tolerated(0.17) deleterious(0.559) HMMSmart_LisH,HMMPfam_LisH C20orf11 54994 genome.wustl.edu 37 20 61574431 61574431 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017896.2 +1 validated p.R71W 1.000 118 0% 184 40.2% - - possibly_damaging(0.731) deleterious(0) deleterious(0.712) HMMSmart_CTLH YTHDF1 54915 genome.wustl.edu 37 20 61846934 61846934 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017798.3 -1 validated p.N16T 1.000 55 0% 126 31.7% - - possibly_damaging(0.763) deleterious(0.01) deleterious(0.689) NULL ARFGAP1 55738 genome.wustl.edu 37 20 61917526 61917526 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000370275 +1 known p.P343 0.000 16 0% 19 42.1% - - - - - NULL EEF1A2 1917 genome.wustl.edu 37 20 62122020 62122020 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001958.2 -1 reviewed p.A281T 1.000 13 0% 24 37.5% - - benign(0.355) deleterious(0) deleterious(0.557) HMMPfam_GTP_EFTU_D2,superfamily_Translation proteins PRIC285 85441 genome.wustl.edu 37 20 62192732 62192732 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001037335.2 -1 reviewed p.G2308 0.987 41 0% 93 35.5% - - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases GMEB2 26205 genome.wustl.edu 37 20 62221885 62221885 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012384.3 -1 reviewed p.L384F 0.251 21 0% 54 35.2% - - possibly_damaging(0.943) tolerated(0.2) neutral(0.436) NULL GMEB2 26205 genome.wustl.edu 37 20 62229211 62229211 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012384.3 -1 reviewed p.Y120 0.220 35 0% 59 40.7% - - - - - HMMPfam_SAND,HMMSmart_SAND,superfamily_SAND_like GMEB2 26205 genome.wustl.edu 37 20 62234423 62234423 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012384.3 -1 reviewed p.E84D 0.758 97 0% 171 32.7% - - benign(0) tolerated(0.06) neutral(0.323) HMMPfam_SAND RTEL1 51750 genome.wustl.edu 37 20 62294235 62294235 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032957.3 +1 reviewed p.N177 0.976 48 0% 98 30.6% - - - - - HMMSmart_DEXDc2,HMMPfam_DEAD_2,superfamily_SSF52540 TNFRSF6B 8771 genome.wustl.edu 37 20 62328477 62328477 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003823.2 +1 reviewed p.F119L 0.073 9 0.000 15 0.533 - - possibly_damaging(0.881) tolerated(0.07) deleterious(0.663) HMMPfam_TNFR_c6,HMMSmart_TNFR,superfamily_SSF57586 UCKL1 54963 genome.wustl.edu 37 20 62577060 62577060 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017859.2 -1 validated p.A200S 0.998 109 0% 226 31.9% - - probably_damaging(1) tolerated(0.1) deleterious(0.786) HMMPfam_PRK,superfamily_P-loop containing nucleoside triphosphate hydrolases UCKL1 54963 genome.wustl.edu 37 20 62577605 62577605 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017859.2 -1 validated p.S107I 1.000 16 0% 41 19.5% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_PRK,superfamily_P-loop containing nucleoside triphosphate hydrolases PRPF6 24148 genome.wustl.edu 37 20 62657386 62657386 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012469.3 +1 reviewed p.A668V 1.000 14 0% 49 18.4% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMSmart_HAT,superfamily_SSF48452 PRPF6 24148 genome.wustl.edu 37 20 62664259 62664259 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012469.3 +1 reviewed p.C913 0.683 34 0% 76 13.2% - - - - - NULL RGS19 10287 genome.wustl.edu 37 20 62705663 62705663 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005873.2 -1 reviewed p.A99V 0.994 35 0% 61 32.8% - - benign(0) tolerated(0.45) neutral(0.012) HMMPfam_RGS,HMMSmart_SM00315,superfamily_Regulator of G-protein signaling RGS OPRL1 4987 genome.wustl.edu 37 20 62730108 62730108 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000913.3 +1 reviewed p.A357T 1.000 22 0% 41 46.3% - - possibly_damaging(0.52) deleterious(0.04) deleterious(0.524) NULL MYT1 4661 genome.wustl.edu 37 20 62839419 62839419 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004535.2 +1 reviewed p.E290D 0.024 29 0% 55 25.5% - - benign(0) tolerated(0.97) - NULL MYT1 4661 genome.wustl.edu 37 20 62850352 62850352 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004535.2 +1 reviewed p.E645D 1.000 21 0% 49 46.9% - - probably_damaging(0.996) tolerated(0.41) deleterious(0.477) HMMPfam_MYT1 MYT1 4661 genome.wustl.edu 37 20 62851135 62851135 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004535.2 +1 reviewed p.N681D 0.000 49 0% 111 34.2% - - benign(0.136) tolerated(0.23) neutral(0.053) HMMPfam_MYT1 TPTE 7179 genome.wustl.edu 37 21 10916378 10916378 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_199261.2 -1 validated p.S423L 0.790 286 0% 121 9.9% - - probably_damaging(0.975) deleterious(0.04) deleterious(0.766) superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 TPTE 7179 genome.wustl.edu 37 21 10971295 10971295 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_199261.2 -1 validated p.D21G 0.001 138 0% 84 31% - - benign(0.026) deleterious(0.01) neutral(0.407) NULL USP25 29761 genome.wustl.edu 37 21 17203730 17203730 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013396.3 +1 validated p.R592Q 1.000 146 0% 41 34.1% - - possibly_damaging(0.439) deleterious(0.02) deleterious(0.526) HMMPfam_UCH,PatternScan_UCH_2_2,superfamily_Cysteine proteinases MIR125B2 406912 genome.wustl.edu 37 21 17962622 17962622 + RNA SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000385128 +1 known NULL 1.000 63 0% 62 16.1% - - - - - - CXADR 1525 genome.wustl.edu 37 21 18933714 18933714 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001338.3 +1 reviewed p.A251 0.001 106 0% 43 44.2% - - - - - NULL NCAM2 4685 genome.wustl.edu 37 21 22841030 22841030 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004540.2 +1 reviewed p.S608R 1.000 258 0% 62 37.1% - - probably_damaging(0.964) deleterious(0.03) deleterious(0.771) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like NCAM2 4685 genome.wustl.edu 37 21 22881337 22881337 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004540.2 +1 reviewed p.G748D 1.000 120 0% 40 10% - - probably_damaging(1) tolerated(0.07) deleterious(0.819) NULL MRPL39 54148 genome.wustl.edu 37 21 26978930 26978930 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_080794.3 -1 reviewed p.P37 0.000 115 0% 128 39.1% - - - - - NULL GABPA 2551 genome.wustl.edu 37 21 27113922 27113922 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002040.3 +1 validated p.E5* 1.000 196 0% 144 34.7% - - - - - NULL GABPA 2551 genome.wustl.edu 37 21 27141316 27141316 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002040.3 +1 validated p.Y380H 1.000 30 0% 20 20% - - probably_damaging(1) deleterious(0) deleterious(0.945) "HMMPfam_Ets,HMMSmart_SM00413,PatternScan_ETS_DOMAIN_2,superfamily_""Winged helix"" DNA-binding domain" APP 351 genome.wustl.edu 37 21 27254055 27254055 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000484.3 -1 reviewed p.R747C 1.000 116 0% 88 29.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_APP_amyloid APP 351 genome.wustl.edu 37 21 27369712 27369712 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000415997 -1 known p.D86N 1.000 88 0% 40 35% - - - - - NULL ADAMTS5 11096 genome.wustl.edu 37 21 28337929 28337929 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007038.3 -1 reviewed p.R261H 1.000 7 0.000 19 0.316 - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL N6AMT1 29104 genome.wustl.edu 37 21 30257538 30257538 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013240.3 -1 reviewed p.A44T 0.004 14 0% 23 39.1% - - benign(0) tolerated(0.58) neutral(0.005) HMMPfam_MTS,superfamily_S-adenosyl-L-methionine-dependent methyltransferases USP16 10600 genome.wustl.edu 37 21 30414424 30414424 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001032410.1 +1 reviewed p.T374N 1.000 135 0% 63 23.8% - - probably_damaging(0.998) tolerated(0.56) deleterious(0.481) HMMPfam_UCH,superfamily_Cysteine proteinases USP16 10600 genome.wustl.edu 37 21 30418995 30418995 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001032410.1 +1 reviewed p.R455Q 1.000 24 0% 10 40% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UCH,superfamily_Cysteine proteinases KRTAP26-1 388818 genome.wustl.edu 37 21 31692014 31692014 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_203405.1 -1 validated p.P114S 0.604 87 0% 27 25.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PMG KRTAP19-3 337970 genome.wustl.edu 37 21 31864089 31864089 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_181609.3 -1 validated p.G63R 0.020 234 0% 127 31.5% - - unknown(0) - - NULL KRTAP11-1 337880 genome.wustl.edu 37 21 32253451 32253451 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_175858.2 -1 validated p.C131 1.000 57 0% 28 35.7% - - - - - HMMPfam_PMG TIAM1 7074 genome.wustl.edu 37 21 32598132 32598132 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003253.2 -1 validated p.K573N 1.000 225 0% 100 47% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TIAM1 7074 genome.wustl.edu 37 21 32639119 32639119 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003253.2 -1 validated p.R57Q 0.979 48 0% 44 11.4% - - probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL SCAF4 57466 genome.wustl.edu 37 21 33060753 33060753 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020706.2 -1 reviewed p.P637L 1.000 309 0% 132 31.8% - - unknown(0) tolerated(0.42) - NULL HUNK 30811 genome.wustl.edu 37 21 33371224 33371224 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014586.1 +1 validated p.H624 0.992 54 0% 55 43.6% - - - - - NULL URB1 9875 genome.wustl.edu 37 21 33755763 33755763 + Missense_Mutation SNP G G T rs2833795 byCluster;byFrequency;bySubmitter;by2Hit2Allele;byHapMap;by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014825.2 -1 validated p.L179M 1.000 72 0% 49 32.7% - - probably_damaging(1) tolerated(0.08) deleterious(0.800) NULL URB1 9875 genome.wustl.edu 37 21 33756771 33756771 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014825.2 -1 validated p.T95 0.063 68 0% 58 34.5% - - - - - NULL SYNJ1 8867 genome.wustl.edu 37 21 34058202 34058202 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003895.3 -1 validated p.A325V 0.904 132 0% 103 10.7% - - benign(0.282) tolerated(0.17) neutral(0.145) HMMPfam_Syja_N IFNGR2 3460 genome.wustl.edu 37 21 34804627 34804627 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000421802 +1 known p.T1M 0.001 65 0% 57 47.4% - - - - - NULL TMEM50B 757 genome.wustl.edu 37 21 34837668 34837668 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006134.5 -1 validated p.S87 0.989 181 0% 62 37.1% - - - - - HMMPfam_UPF0220 GART 2618 genome.wustl.edu 37 21 34900888 34900888 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000819.4 -1 reviewed p.M278I 1.000 76 0% 65 32.3% - - benign(0.384) tolerated(0.06) neutral(0.445) HMMPfam_GARS_A,superfamily_Glutathione synthetase ATP-binding domain-like SON 6651 genome.wustl.edu 37 21 34922033 34922033 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138927.1 +1 reviewed p.A166T 0.969 73 0% 104 30.8% - - probably_damaging(0.984) deleterious(0) deleterious(0.875) NULL ITSN1 6453 genome.wustl.edu 37 21 35201991 35201991 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003024.2 +1 reviewed p.G1098D 1.000 184 0% 163 36.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain ITSN1 6453 genome.wustl.edu 37 21 35254629 35254629 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003024.2 +1 reviewed p.N1475S 1.000 96 1% 85 38.8% - - benign(0.003) tolerated(0.45) neutral(0.012) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like ITSN1 6453 genome.wustl.edu 37 21 35257781 35257781 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003024.2 +1 reviewed p.V1600M 1.000 221 0% 194 35.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) SLC5A3 6526 genome.wustl.edu 37 21 35468915 35468915 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006933.4 +1 validated p.G473D 1.000 151 0% 36 25% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SSF,PatternScan_NA_SOLUT_SYMP_2 DOPEY2 9980 genome.wustl.edu 37 21 37571491 37571491 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005128.2 +1 validated p.E88K 1.000 148 0% 157 31.2% - - benign(0.023) tolerated(0.59) neutral(0.005) HMMPfam_Dopey_N DOPEY2 9980 genome.wustl.edu 37 21 37595581 37595581 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005128.2 +1 validated p.L435 1.000 200 0% 131 30.5% - - - - - NULL DOPEY2 9980 genome.wustl.edu 37 21 37609602 37609602 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005128.2 +1 validated p.R889W 0.986 58 0% 88 34.1% - - probably_damaging(0.996) deleterious(0.03) deleterious(0.826) NULL DOPEY2 9980 genome.wustl.edu 37 21 37618097 37618097 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005128.2 +1 validated p.A1273 0.012 46 0% 78 35.9% - - - - - NULL MORC3 23515 genome.wustl.edu 37 21 37713699 37713699 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015358.2 +1 reviewed p.Y204C 1.000 96 0% 56 39.3% - - possibly_damaging(0.871) tolerated(0.17) neutral(0.398) superfamily_ATP_bd_ATPase CHAF1B 8208 genome.wustl.edu 37 21 37783763 37783763 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005441.2 +1 reviewed p.V308M 0.000 170 0% 153 35.9% - - benign(0) deleterious(0.01) neutral(0.406) superfamily_WD40_like TTC3 7267 genome.wustl.edu 37 21 38467744 38467744 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001001894.1 +1 validated p.R261I 1.000 126 0% 52 34.6% - - possibly_damaging(0.928) deleterious(0) deleterious(0.820) HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452 TTC3 7267 genome.wustl.edu 37 21 38519805 38519805 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001001894.1 +1 validated p.E640* 1.000 179 0% 88 31.8% - - - - - superfamily_Spectrin,superfamily_SSF48452 DYRK1A 1859 genome.wustl.edu 37 21 38853051 38853051 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001396.3 +1 reviewed p.Y147H 1.000 175 0% 61 19.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Protein kinase-like (PK-like) BRWD1 54014 genome.wustl.edu 37 21 40570817 40570817 + Missense_Mutation SNP A A T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018963.3 -1 reviewed p.M1842K 0.000 114 0% 40 17.5% - - benign(0.006) deleterious(0.05) neutral(0.345) superfamily_WD40 repeat-like BRWD1 54014 genome.wustl.edu 37 21 40571219 40571219 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018963.3 -1 reviewed p.A1708V 0.002 85 0% 36 22.2% - - benign(0) tolerated(1) - superfamily_WD40 repeat-like BRWD1 54014 genome.wustl.edu 37 21 40590152 40590152 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000424441 -1 known p.E181K 0.016 171 0% 43 32.6% - - - - - HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain LCA5L 150082 genome.wustl.edu 37 21 40800107 40800107 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152505.3 -1 validated p.Q105* 0.401 35 0% 15 46.7% - - - - - NULL DSCAM 1826 genome.wustl.edu 37 21 41719648 41719648 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001389.3 -1 validated p.V387M 1.000 154 0% 51 25.5% - - benign(0.372) deleterious(0.02) deleterious(0.502) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin PRDM15 63977 genome.wustl.edu 37 21 43230618 43230618 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022115.3 -1 validated p.H1214 1.000 35 0% 62 37.1% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2 UMODL1 89766 genome.wustl.edu 37 21 43504227 43504227 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173568.3 +1 validated p.P118L 0.907 64 0% 117 38.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_WAP,HMMSmart_SM00217,superfamily_Elafin-like UMODL1 89766 genome.wustl.edu 37 21 43543236 43543236 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173568.3 +1 validated p.S1169 1.000 31 0% 52 30.8% - - - - - HMMPfam_Zona_pellucida,HMMSmart_SM00241 UBASH3A 53347 genome.wustl.edu 37 21 43852245 43852245 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018961.2 +1 validated p.R402C 1.000 98 0% 113 33.6% - - possibly_damaging(0.944) deleterious(0) deleterious(0.833) HMMPfam_PGAM,superfamily_Phosphoglycerate mutase-like SLC37A1 54020 genome.wustl.edu 37 21 43945893 43945893 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018964.3 +1 reviewed p.A22S 1.000 367 0% 399 21.6% - - benign(0.005) tolerated(0.29) neutral(0.029) superfamily_MFS general substrate transporter SLC37A1 54020 genome.wustl.edu 37 21 43962556 43962556 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018964.3 +1 reviewed p.V177I 1.000 49 0% 77 44.2% - - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_MFS_1,superfamily_MFS general substrate transporter WDR4 10785 genome.wustl.edu 37 21 44283567 44283567 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018669.4 -1 reviewed p.S146P 1.000 228 0.4% 324 33.6% - - possibly_damaging(0.857) deleterious(0) deleterious(0.776) HMMSmart_SM00320,superfamily_WD40 repeat-like CBS 875 genome.wustl.edu 37 21 44478947 44478947 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000071.2 -1 reviewed p.A452V 0.071 13 0% 27 40.7% - - benign(0.002) tolerated(0.08) neutral(0.300) HMMPfam_CBS,HMMSmart_SM00116,superfamily_CBS-domain RRP1B 23076 genome.wustl.edu 37 21 45096660 45096660 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015056.2 +1 validated p.V221I 0.304 55 0% 81 45.7% - - possibly_damaging(0.937) tolerated(0.15) deleterious(0.624) NULL PDXK 8566 genome.wustl.edu 37 21 45165994 45165994 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003681.4 +1 reviewed p.G122 0.965 318 0% 466 35.6% - - - - - superfamily_Ribokinase-like RRP1 8568 genome.wustl.edu 37 21 45217560 45217560 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003683.5 +1 reviewed p.A201T 0.340 88 0% 166 31.3% - - benign(0.16) tolerated(0.16) neutral(0.074) HMMPfam_Nop52 AGPAT3 56894 genome.wustl.edu 37 21 45379596 45379596 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001037553.1 +1 reviewed p.V12M 0.201 79 0% 123 36.6% - - possibly_damaging(0.789) deleterious(0.01) deleterious(0.702) NULL AGPAT3 56894 genome.wustl.edu 37 21 45401010 45401010 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001037553.1 +1 reviewed p.G328 0.032 177 0% 320 11.6% - - - - - NULL TRAPPC10 7109 genome.wustl.edu 37 21 45506806 45506806 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003274.4 +1 reviewed p.A835V 0.000 29 0% 32 40.6% - - benign(0.02) tolerated(0.29) neutral(0.030) NULL PWP2 5822 genome.wustl.edu 37 21 45548494 45548494 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005049.2 +1 validated p.D858N 0.386 32 0% 48 29.2% - - benign(0.027) tolerated(0.18) neutral(0.058) HMMPfam_PWP2 AIRE 326 genome.wustl.edu 37 21 45713792 45713792 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000383.2 +1 reviewed p.G467R 0.946 12 0% 30 43.3% - - probably_damaging(0.996) tolerated(0.2) deleterious(0.511) HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger,PatternScan_ZF_PHD_1,HMMPfam_PHD PFKL 5211 genome.wustl.edu 37 21 45726572 45726572 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002626.4 +1 reviewed p.A32T 1.000 118 0% 221 41.6% - - probably_damaging(0.974) deleterious(0) deleterious(0.861) HMMPfam_PFK,superfamily_Phosphofructokinase PFKL 5211 genome.wustl.edu 37 21 45730904 45730904 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002626.4 +1 reviewed p.V59M 1.000 53 0% 101 29.7% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_PFK,superfamily_Phosphofructokinase PFKL 5211 genome.wustl.edu 37 21 45746077 45746077 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002626.4 +1 reviewed p.V709M 0.993 33 0% 64 42.2% - - possibly_damaging(0.685) tolerated(0.1) deleterious(0.531) superfamily_Phosphofructokinase TRPM2 7226 genome.wustl.edu 37 21 45826645 45826645 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003307.3 +1 reviewed p.D987N 0.997 28 0% 64 45.3% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) PatternScan_CHITINASE_18,HMMPfam_Ion_trans TRPM2 7226 genome.wustl.edu 37 21 45837841 45837841 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003307.3 +1 reviewed p.D1060N 1.000 37 0% 68 32.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL LRRC3 81543 genome.wustl.edu 37 21 45876573 45876573 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030891.3 +1 validated p.T16A 0.000 11 0% 28 25% - - benign(0) tolerated(0.42) neutral(0.014) NULL TSPEAR 54084 genome.wustl.edu 37 21 45929119 45929119 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144991.2 -1 provisional p.Q573* 0.988 45 0% 87 33.3% - - - - - HMMPfam_EPTP KRTAP10-1 386677 genome.wustl.edu 37 21 45959440 45959440 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198691.2 -1 reviewed p.C198* 0.060 266 0% 371 35.6% - - - - - HMMPfam_Keratin_B2 KRTAP10-11 386678 genome.wustl.edu 37 21 46066746 46066746 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198692.2 +1 validated p.S124Y 0.038 263 0% 408 35% - - unknown(0) deleterious(0.03) - HMMPfam_Keratin_B2 KRTAP12-4 386684 genome.wustl.edu 37 21 46074502 46074502 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198698.1 -1 provisional p.C10 0.062 32 0% 59 44.1% - - - - - NULL LOC100130599 100130599 genome.wustl.edu 37 21 46122384 46122384 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002343756.1 +1 model p.C214R 0.867 182 0% 303 38% - - - - - HMMPfam_Keratin_B2 ITGB2 3689 genome.wustl.edu 37 21 46308684 46308684 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000211.3 -1 reviewed p.E668 0.923 30 0% 50 36% - - - - - HMMPfam_Integrin_B_tail,superfamily_Integrin_bsu_tail ITGB2 3689 genome.wustl.edu 37 21 46321551 46321551 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000211.3 -1 reviewed p.Q199 0.995 121 0% 184 41.3% - - - - - HMMSmart_VWA,HMMPfam_Integrin_beta,HMMSmart_INB,superfamily_SSF53300 ITGB2 3689 genome.wustl.edu 37 21 46326905 46326905 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000211.3 -1 reviewed p.A85T 0.017 52 0% 118 29.7% - - benign(0.199) tolerated(0.49) neutral(0.029) HMMPfam_Integrin_beta,HMMSmart_INB C21orf67 84536 genome.wustl.edu 37 21 46354949 46354949 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000397841 -1 known p.P134 0.005 38 0% 57 14% - - - - - NULL C21orf67 84536 genome.wustl.edu 37 21 46355742 46355742 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000397841 -1 known p.R47C 0.000 37 0% 111 32.4% - - benign(0.013) - - NULL SLC19A1 6573 genome.wustl.edu 37 21 46951810 46951810 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_194255.1 -1 validated p.R148C 0.128 15 0% 27 37% - - probably_damaging(0.989) tolerated(0.16) deleterious(0.499) HMMPfam_Folate_carrier,superfamily_MFS general substrate transporter COL6A1 1291 genome.wustl.edu 37 21 47422292 47422292 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001848.2 +1 reviewed p.V743M 0.825 17 0% 49 38.8% - - unknown(0) tolerated(0.15) - HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300 FTCD 10841 genome.wustl.edu 37 21 47566222 47566222 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006657.2 -1 reviewed p.L309R 1.000 30 0% 65 35.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Formiminotransferase domain of formiminotransferase-cyclodeaminase.,HMMPfam_FTCD MCM3AP 8888 genome.wustl.edu 37 21 47697447 47697447 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003906.3 -1 reviewed p.R618W 1.000 55 0% 86 27.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PCNT 5116 genome.wustl.edu 37 21 47831224 47831224 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006031.5 +1 reviewed p.I1746S 1.000 47 0% 79 32.9% - - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL PCNT 5116 genome.wustl.edu 37 21 47845845 47845845 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006031.5 +1 reviewed p.D2427G 0.000 29 0% 77 40.3% - - benign(0.001) tolerated(0.26) neutral(0.034) NULL DIP2A 23181 genome.wustl.edu 37 21 47931448 47931448 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015151.3 +1 reviewed p.R341 0.010 43 0% 33 27.3% - - - - - superfamily_Acetyl-CoA synthetase-like DIP2A 23181 genome.wustl.edu 37 21 47971782 47971782 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015151.3 +1 reviewed p.P999S 0.999 32 0% 66 47% - - benign(0.14) tolerated(0.12) neutral(0.273) superfamily_Acetyl-CoA synthetase-like DIP2A 23181 genome.wustl.edu 37 21 47978203 47978203 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015151.3 +1 reviewed p.A1289V 0.971 16 0% 30 33.3% - - benign(0.041) tolerated(0.09) neutral(0.299) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like DIP2A 23181 genome.wustl.edu 37 21 47983778 47983778 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015151.3 +1 reviewed p.P1366L 1.000 86 0% 118 39.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like S100B 6285 genome.wustl.edu 37 21 48022245 48022245 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006272.2 -1 reviewed p.L28 1.000 169 0% 157 30.6% - - - - - HMMPfam_S_100,superfamily_EF-hand OR11H1 81061 genome.wustl.edu 37 22 16449653 16449653 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005239.1 -1 provisional p.A51E 0.042 572 0% 142 14.1% - - benign(0.064) deleterious(0) neutral(0.449) superfamily_SSF81321 CCT8L2 150160 genome.wustl.edu 37 22 17071848 17071848 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014406.4 -1 validated p.E531D 0.002 132 0% 161 9.9% - - benign(0.083) tolerated(0.57) neutral(0.012) NULL GAB4 128954 genome.wustl.edu 37 22 17451023 17451023 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001037814.1 -1 provisional p.M249I 0.111 139 0% 103 35.9% - - benign(0.036) tolerated(0.13) neutral(0.255) NULL CECR1 51816 genome.wustl.edu 37 22 17662415 17662415 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017424.2 -1 reviewed p.K498N 0.999 136 0% 114 36.8% - - benign(0.027) tolerated(0.37) neutral(0.021) superfamily_SSF51556 CECR2 27443 genome.wustl.edu 37 22 17990854 17990854 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000400573 +1 known p.P272T 0.996 91 0% 73 41.1% - - benign(0.013) tolerated(0.07) neutral(0.320) NULL SLC25A18 83733 genome.wustl.edu 37 22 18070016 18070016 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031481.1 +1 provisional p.R175H 0.142 24 0% 45 37.8% - - benign(0.025) deleterious(0.03) neutral(0.365) superfamily_Mitoch_carrier,HMMPfam_Mito_carr BCL2L13 23786 genome.wustl.edu 37 22 18210087 18210087 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015367.2 +1 validated p.N415 0.000 66 0% 32 37.5% - - - - - NULL MICAL3 57553 genome.wustl.edu 37 22 18371974 18371974 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015241.2 -1 provisional p.Q573* 1.000 104 1% 115 47.8% - - - - - HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain MICAL3 57553 genome.wustl.edu 37 22 18378103 18378103 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015241.2 -1 provisional p.D466N 1.000 244 0% 154 39% - - probably_damaging(1) tolerated(0.05) deleterious(0.845) superfamily_Calponin-homology domain CH-domain DGCR2 9993 genome.wustl.edu 37 22 19035979 19035979 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005137.2 -1 reviewed p.C327Y 1.000 88 0% 78 34.6% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_VWC,PatternScan_VWFC_1 TSSK2 23617 genome.wustl.edu 37 22 19119445 19119445 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_053006.4 +1 validated p.S178L 0.998 41 0% 76 35.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase DGCR14 8220 genome.wustl.edu 37 22 19121726 19121726 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022719.2 -1 reviewed p.A472T 1.000 111 0% 190 21.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CLTCL1 8218 genome.wustl.edu 37 22 19221009 19221009 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007098.3 -1 reviewed p.L435R 1.000 67 0% 58 25.9% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_ARM repeat UFD1L 7353 genome.wustl.edu 37 22 19443292 19443292 + Splice_Site SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005659.6 -1 reviewed e10-1 1.000 139 0% 95 37.9% - - - - - - GNB1L 54584 genome.wustl.edu 37 22 19776244 19776244 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_053004.2 -1 validated p.Y324 0.711 12 0% 17 47.1% - - - - - NULL DGCR8 54487 genome.wustl.edu 37 22 20073611 20073611 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022720.5 +1 validated p.T42M 1.000 35 0% 61 37.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL DGCR8 54487 genome.wustl.edu 37 22 20074813 20074813 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022720.5 +1 validated p.P283 0.833 198 0% 270 40.7% - - - - - NULL TRMT2A 27037 genome.wustl.edu 37 22 20102108 20102108 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022727.4 -1 validated p.A408T 1.000 68 0% 121 32.2% - - possibly_damaging(0.942) deleterious(0.01) deleterious(0.792) superfamily_S-adenosyl-L-methionine-dependent methyltransferases ZDHHC8 29801 genome.wustl.edu 37 22 20130756 20130756 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013373.3 +1 reviewed p.E535* 1.000 13 0% 30 23.3% - - - - - NULL RIMBP3 85376 genome.wustl.edu 37 22 20457412 20457412 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015672.1 -1 validated p.N1297S 0.006 75 0% 155 48.4% - - probably_damaging(0.959) deleterious(0.02) deleterious(0.786) NULL RIMBP3 85376 genome.wustl.edu 37 22 20457597 20457597 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015672.1 -1 validated p.C1235 0.995 136 0% 239 17.2% - - - - - NULL RIMBP3 85376 genome.wustl.edu 37 22 20458025 20458025 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015672.1 -1 validated p.L1093 1.000 132 0% 288 15.3% - - - - - superfamily_Fibronectin type III RIMBP3 85376 genome.wustl.edu 37 22 20458733 20458733 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015672.1 -1 validated p.L857 1.000 168 0% 342 17.5% - - - - - HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_SH3_2 ZNF74 7625 genome.wustl.edu 37 22 20761076 20761076 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003426.2 +1 validated p.A585T 0.022 58 0% 74 29.7% - - benign(0.001) deleterious(0.04) neutral(0.349) superfamily_C2H2 and C2HC zinc fingers MED15 51586 genome.wustl.edu 37 22 20937505 20937505 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001003891.1 +1 reviewed p.R548H 1.000 44 0% 67 37.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TMEM191A 84222 genome.wustl.edu 37 22 21055630 21055630 + RNA SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NR_026815.1 +1 predicted NULL 0.567 148 0% 236 36.9% - - - - - - PI4KA 5297 genome.wustl.edu 37 22 21068776 21068776 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_058004.2 -1 reviewed p.R1753* 1.000 299 0% 462 31.8% - - - - - superfamily_Protein kinase-like (PK-like) PI4KA 5297 genome.wustl.edu 37 22 21119441 21119441 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_058004.2 -1 reviewed p.L783M 1.000 83 0% 66 31.8% - - probably_damaging(0.992) tolerated(0.41) neutral(0.463) NULL AIFM3 150209 genome.wustl.edu 37 22 21327725 21327725 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144704.2 +1 validated p.R54H 0.965 23 0% 43 34.9% - - benign(0.036) tolerated(0.17) neutral(0.061) NULL THAP7 80764 genome.wustl.edu 37 22 21354544 21354544 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001008695.1 -1 validated p.Q185H 0.994 23 0% 31 32.3% - - benign(0) tolerated(0.06) neutral(0.323) NULL SLC7A4 6545 genome.wustl.edu 37 22 21385120 21385120 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004173.2 -1 validated p.A328T 1.000 23 0% 59 40.7% - - benign(0.02) deleterious(0.03) neutral(0.365) HMMPfam_AA_permease HIC2 23119 genome.wustl.edu 37 22 21799743 21799743 + Missense_Mutation SNP G G A rs188340044 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015094.2 +1 validated p.A187T 0.000 14 0% 25 32% - - benign(0) tolerated(0.37) neutral(0.019) NULL CCDC116 164592 genome.wustl.edu 37 22 21988369 21988369 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152612.2 +1 provisional p.R44H 0.000 44 0% 82 36.6% - - benign(0.001) tolerated(0.57) neutral(0.006) NULL PPIL2 23759 genome.wustl.edu 37 22 22037492 22037492 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_148176.2 +1 reviewed p.F167L 1.000 115 0% 197 34.5% - - probably_damaging(0.99) tolerated(0.19) deleterious(0.491) NULL PPM1F 9647 genome.wustl.edu 37 22 22280010 22280010 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014634.2 -1 reviewed p.L306S 1.000 29 0% 53 35.8% - - possibly_damaging(0.694) tolerated(0.27) neutral(0.282) HMMSmart_PP2C_SIG,HMMSmart_PP2Cc,superfamily_PP2C-related,HMMPfam_PP2C TOP3B 8940 genome.wustl.edu 37 22 22312958 22312958 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000457270 -1 known p.S466L 0.731 95 0% 172 37.8% - - - - - NULL IGLV10-54 28772 genome.wustl.edu 37 22 22569632 22569632 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000390287 +1 known p.C108 0.133 35 0% 66 27.3% - - - - - HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin VPREB1 7441 genome.wustl.edu 37 22 22599673 22599673 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007128.2 +1 reviewed p.S121I 0.000 16 0% 40 20% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL IGLV5-52 28779 genome.wustl.edu 37 22 22673464 22673464 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000390289 +1 known p.R86H 0.003 96 0% 75 38.7% - - benign(0.015) deleterious(0.03) neutral(0.365) HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin IGLV1-40 28825 genome.wustl.edu 37 22 22764591 22764591 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000390299 +1 known p.S111 0.000 91 0% 52 36.5% - - - - - HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin ZNF280A 129025 genome.wustl.edu 37 22 22869036 22869036 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_080740.3 -1 reviewed p.L307I 1.000 336 0.3% 304 34.2% - - probably_damaging(0.999) tolerated(0.08) deleterious(0.790) HMMSmart_SM00355 PRAME 23532 genome.wustl.edu 37 22 22892536 22892536 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006115.3 -1 reviewed p.D189N 0.021 118 0% 83 10.8% - - possibly_damaging(0.704) tolerated(0.22) neutral(0.295) superfamily_RNI-like BCR 613 genome.wustl.edu 37 22 23656167 23656167 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004327.3 +1 reviewed p.P1157L 0.960 48 0% 63 41.3% - - possibly_damaging(0.892) deleterious(0.04) deleterious(0.700) HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP RGL4 266747 genome.wustl.edu 37 22 24036575 24036575 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153615.1 +1 provisional p.I318 0.991 84 0% 91 27.5% - - - - - HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF ZNF70 7621 genome.wustl.edu 37 22 24086361 24086361 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021916.2 -1 provisional p.L323I 1.000 204 0% 197 36% - - possibly_damaging(0.756) deleterious(0) deleterious(0.724) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 MMP11 4320 genome.wustl.edu 37 22 24125726 24125726 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005940.3 +1 reviewed p.L488F 1.000 61 0% 128 36.7% - - benign(0) deleterious(0.03) neutral(0.364) NULL CABIN1 23523 genome.wustl.edu 37 22 24437718 24437718 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012295.2 +1 reviewed p.L114 1.000 235 0% 113 10.6% - - - - - HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452 ADORA2A 135 genome.wustl.edu 37 22 24836592 24836592 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000675.4 +1 reviewed p.I125T 1.000 75 0% 81 39.5% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PIWIL3 440822 genome.wustl.edu 37 22 25152540 25152540 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001008496.2 -1 validated p.L163R 0.529 188 0% 110 37.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF101690 SGSM1 129049 genome.wustl.edu 37 22 25308611 25308611 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001039948.2 +1 validated p.E995D 1.000 100 0% 67 29.9% - - benign(0.004) tolerated(0.13) neutral(0.253) HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p CRYBB3 1417 genome.wustl.edu 37 22 25597388 25597388 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004076.3 +1 reviewed p.E9K 0.960 35 0% 41 31.7% - - possibly_damaging(0.903) tolerated(0.11) deleterious(0.629) NULL SEZ6L 23544 genome.wustl.edu 37 22 26736438 26736438 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021115.4 +1 validated p.Y684 0.111 67 0% 31 32.3% - - - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CRYBB1 1414 genome.wustl.edu 37 22 26997873 26997873 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001887.3 -1 reviewed p.R182H 1.000 60 0% 38 50% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Crystall,HMMSmart_XTALbg,superfamily_G_crystallin_SF MN1 4330 genome.wustl.edu 37 22 28193153 28193153 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002430.2 -1 reviewed p.P1127S 1.000 5 0.000 18 0.444 - - probably_damaging(0.978) deleterious(0) deleterious(0.865) NULL MN1 4330 genome.wustl.edu 37 22 28193352 28193352 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002430.2 -1 reviewed p.S1060 0.299 5 0.000 16 0.438 - - - - - NULL MN1 4330 genome.wustl.edu 37 22 28193904 28193904 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002430.2 -1 reviewed p.S876 1.000 28 0% 91 33% - - - - - NULL MN1 4330 genome.wustl.edu 37 22 28194827 28194827 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002430.2 -1 reviewed p.R569W 1.000 5 0.000 12 0.667 - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TTC28 23331 genome.wustl.edu 37 22 28395120 28395120 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001145418.1 -1 validated p.E1509 1.000 39 0% 54 29.6% - - - - - NULL KREMEN1 83999 genome.wustl.edu 37 22 29534700 29534700 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032045.4 +1 reviewed p.S351 0.861 137 0% 124 15.3% - - - - - NULL RHBDD3 25807 genome.wustl.edu 37 22 29656131 29656131 + Missense_Mutation SNP A A T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012265.1 -1 provisional p.V360D 0.994 22 0% 44 29.5% - - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL GAS2L1 10634 genome.wustl.edu 37 22 29704488 29704488 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152237.1 +1 reviewed p.K131N 1.000 43 0% 95 38.9% - - probably_damaging(0.98) tolerated(0.05) deleterious(0.769) HMMPfam_CH,HMMSmart_CH,superfamily_Calponin-homology MTMR3 8897 genome.wustl.edu 37 22 30416318 30416318 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021090.3 +1 reviewed p.V890 0.000 49 0% 57 35.1% - - - - - NULL LIF 3976 genome.wustl.edu 37 22 30639828 30639828 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002309.3 -1 reviewed p.A141T 0.003 338 0% 540 36.5% - - benign(0.002) tolerated(0.6) neutral(0.004) HMMPfam_LIF_OSM,HMMSmart_SM00080,superfamily_4-helical cytokines CCDC157 550631 genome.wustl.edu 37 22 30772570 30772570 + Missense_Mutation SNP C C T rs185099385 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001017437.2 +1 validated p.R699W 0.031 45 0% 118 41.5% - - benign(0.008) tolerated(0.11) neutral(0.272) NULL RNF215 200312 genome.wustl.edu 37 22 30782611 30782611 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000215798 -1 known p.P79T 1.000 40 0% 74 27% - - - - - NULL SEC14L2 23541 genome.wustl.edu 37 22 30805457 30805457 + Missense_Mutation SNP C C T rs144995453 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012429.2 +1 reviewed p.R188C 1.000 243 0% 216 12% - - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_CRAL_TRIO,HMMSmart_SEC14,superfamily_CRAL_TRIO_C SEC14L2 23541 genome.wustl.edu 37 22 30812296 30812296 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012429.2 +1 reviewed p.R329W 1.000 61 0% 47 27.7% - - benign(0.428) deleterious(0.03) deleterious(0.504) superfamily_SSF101576 TCN2 6948 genome.wustl.edu 37 22 31013385 31013385 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000355.3 +1 reviewed p.L337I 0.029 77 0% 113 20.4% - - benign(0.003) tolerated(0.39) neutral(0.016) NULL SMTN 6525 genome.wustl.edu 37 22 31487370 31487370 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_134270.1 +1 reviewed p.G454E 1.000 5 0.000 18 0.278 - - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL SFI1 9814 genome.wustl.edu 37 22 32009143 32009143 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001007467.1 +1 validated p.Q836* 0.001 43 0% 82 30.5% - - - - - NULL DEPDC5 9681 genome.wustl.edu 37 22 32188025 32188025 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014662.2 +1 validated p.N211D 1.000 208 0% 148 33.8% - - possibly_damaging(0.559) tolerated(0.12) neutral(0.451) NULL DEPDC5 9681 genome.wustl.edu 37 22 32293560 32293560 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000433147 +1 known p.R808* 0.005 138 0% 106 35.8% - - - - - NULL C22orf42 150297 genome.wustl.edu 37 22 32547507 32547507 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001010859.1 -1 provisional p.H144 0.000 118 0% 50 32% - - - - - NULL SLC5A4 6527 genome.wustl.edu 37 22 32627031 32627031 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014227.2 -1 validated p.C351 0.996 89 0% 27 37% - - - - - HMMPfam_SSF RFPL3-AS1 10737 genome.wustl.edu 37 22 32756123 32756123 + RNA SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NR_001450.2 -1 provisional NULL 0.000 65 0% 64 34.4% - - - - - - C22orf28 51493 genome.wustl.edu 37 22 32789918 32789918 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014306.4 -1 validated p.Q417 0.999 138 0% 71 11.3% - - - - - HMMPfam_UPF0027,superfamily_Hypothetical protein PH1602 BPIFC 254240 genome.wustl.edu 37 22 32841906 32841906 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_174932.2 -1 validated p.F151C 0.043 108 0.9% 55 43.6% - - benign(0.313) tolerated(0.08) neutral(0.397) HMMPfam_LBP_BPI_CETP,HMMSmart_BPI1,superfamily_Bactericidal_perm-incr_a/b_dom FBXO7 25793 genome.wustl.edu 37 22 32875095 32875095 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012179.3 +1 reviewed p.A84S 1.000 191 0% 169 34.9% - - possibly_damaging(0.466) tolerated(0.26) neutral(0.187) NULL TIMP3 7078 genome.wustl.edu 37 22 33245505 33245505 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000362.4 +1 reviewed p.T63I 1.000 156 0% 82 23.2% - - probably_damaging(0.999) tolerated(0.13) deleterious(0.743) HMMPfam_TIMP,HMMSmart_SM00206,superfamily_TIMP-like TIMP3 7078 genome.wustl.edu 37 22 33255244 33255244 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000382049 +1 known p.R175W 0.232 64 0% 35 34.3% - - benign(0) - - NULL SYN3 8224 genome.wustl.edu 37 22 33376684 33376684 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003490.3 -1 reviewed p.S105 0.583 170 0% 58 43.1% - - - - - HMMPfam_Synapsin,superfamily_PreATP-grasp domain MCM5 4174 genome.wustl.edu 37 22 35812392 35812392 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006739.3 +1 reviewed p.A470T 1.000 37 0% 55 25.5% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_MCM,HMMSmart_SM00350,superfamily_P-loop containing nucleoside triphosphate hydrolases RBFOX2 23543 genome.wustl.edu 37 22 36164307 36164307 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001082578.1 -1 reviewed p.I251 1.000 118 0% 39 25.6% - - - - - HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 MYH9 4627 genome.wustl.edu 37 22 36681955 36681955 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002473.4 -1 reviewed p.E1702 1.000 26 0% 60 28.3% - - - - - HMMPfam_Myosin_tail_1 MYH9 4627 genome.wustl.edu 37 22 36685241 36685241 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002473.4 -1 reviewed p.R1483W 1.000 27 0% 51 29.4% - - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_Myosin_tail_1 MYH9 4627 genome.wustl.edu 37 22 36702073 36702073 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002473.4 -1 reviewed p.V688M 1.000 25 0% 33 51.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYH9 4627 genome.wustl.edu 37 22 36705344 36705344 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002473.4 -1 reviewed p.S609L 1.000 158 0% 242 41.3% - - benign(0.001) deleterious(0.01) neutral(0.406) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYH9 4627 genome.wustl.edu 37 22 36715590 36715590 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002473.4 -1 reviewed p.N368S 1.000 81 0% 127 33.9% - - benign(0.049) deleterious(0.01) neutral(0.409) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYH9 4627 genome.wustl.edu 37 22 36717854 36717854 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002473.4 -1 reviewed p.R240C 1.000 108 0% 109 35.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases TST 7263 genome.wustl.edu 37 22 37414578 37414578 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003312.4 -1 reviewed p.D66Y 0.987 7 0.000 29 0.310 - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Rhodanese,HMMSmart_SM00450,superfamily_Rhodanese/Cell cycle control phosphatase KCTD17 79734 genome.wustl.edu 37 22 37455383 37455383 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024681.2 +1 validated p.G180S 1.000 30 0% 62 32.3% - - possibly_damaging(0.921) deleterious(0) deleterious(0.816) NULL KCTD17 79734 genome.wustl.edu 37 22 37456935 37456935 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024681.2 +1 validated p.Q236* 1.000 193 0% 394 39.6% - - - - - NULL IL2RB 3560 genome.wustl.edu 37 22 37538551 37538551 + Missense_Mutation SNP G G A rs117728347 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000878.2 -1 reviewed p.R69W 0.000 45 0% 99 27.3% - - probably_damaging(0.99) deleterious(0.04) deleterious(0.790) NULL C1QTNF6 114904 genome.wustl.edu 37 22 37578264 37578264 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031910.3 -1 validated p.T267 1.000 39 0% 67 34.3% - - - - - HMMPfam_C1q,superfamily_TNF_like C1QTNF6 114904 genome.wustl.edu 37 22 37578403 37578403 + Missense_Mutation SNP G G A rs182559799 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031910.3 -1 validated p.A221V 1.000 44 0% 63 34.9% - - probably_damaging(0.995) deleterious(0.04) deleterious(0.806) HMMPfam_C1q,superfamily_TNF_like NOL12 79159 genome.wustl.edu 37 22 38086735 38086735 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024313.2 +1 validated p.A138V 0.000 70 0% 97 28.9% - - benign(0) tolerated(0.74) neutral(0.002) HMMPfam_Nop25 TRIOBP 11078 genome.wustl.edu 37 22 38119410 38119410 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001039141.2 +1 reviewed p.R283* 0.000 198 0% 344 34.6% - - - - - NULL TRIOBP 11078 genome.wustl.edu 37 22 38122301 38122301 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001039141.2 +1 reviewed p.P1246 0.035 11 0% 30 33.3% - - - - - NULL KDELR3 11015 genome.wustl.edu 37 22 38864311 38864311 + Silent SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016657.1 +1 reviewed p.R25 1.000 33 0% 71 39.4% - - - - - NULL DDX17 10521 genome.wustl.edu 37 22 38897249 38897249 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001098504.1 -1 reviewed p.K108N 1.000 168 0% 172 44.2% - - possibly_damaging(0.757) tolerated(0.15) deleterious(0.520) superfamily_P-loop containing nucleoside triphosphate hydrolases DMC1 11144 genome.wustl.edu 37 22 38917656 38917656 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007068.2 -1 reviewed p.R304* 0.976 187 0% 127 42.5% - - - - - HMMSmart_AAA,HMMPfam_Rad51,superfamily_SSF52540 DMC1 11144 genome.wustl.edu 37 22 38948703 38948703 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007068.2 -1 reviewed p.T130I 1.000 319 0% 230 36.1% - - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMSmart_AAA,HMMPfam_Rad51,superfamily_SSF52540 CBY1 25776 genome.wustl.edu 37 22 39064136 39064136 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001002880.1 +1 reviewed p.S26F 0.993 72 0% 70 34.3% - - benign(0.049) tolerated(0.27) neutral(0.037) NULL GTPBP1 9567 genome.wustl.edu 37 22 39120394 39120394 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004286.4 +1 reviewed p.A351S 1.000 77 0% 89 33.7% - - possibly_damaging(0.929) deleterious(0.04) deleterious(0.725) HMMPfam_GTP_EFTU,superfamily_SSF52540 SUN2 25777 genome.wustl.edu 37 22 39132378 39132378 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015374.1 -1 validated p.T683M 0.000 47 2.1% 106 41.5% - - benign(0) deleterious(0.04) neutral(0.349) HMMPfam_Sad1_UNC SUN2 25777 genome.wustl.edu 37 22 39147010 39147010 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015374.1 -1 validated p.G106D 0.897 15 0% 41 31.7% - - benign(0.229) tolerated(0.41) neutral(0.038) NULL CBX6 23466 genome.wustl.edu 37 22 39262486 39262486 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014292.3 -1 validated p.A323S 0.842 9 0.000 28 0.464 - - possibly_damaging(0.791) tolerated(0.4) neutral(0.312) NULL APOBEC3F 200316 genome.wustl.edu 37 22 39441178 39441178 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_145298.5 +1 validated p.C135Y 0.000 122 0% 195 35.9% - - possibly_damaging(0.66) tolerated(0.1) deleterious(0.519) HMMPfam_APOBEC_C,superfamily_Cytidine deaminase-like APOBEC3G 60489 genome.wustl.edu 37 22 39474961 39474961 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021822.2 +1 reviewed p.R14 0.000 150 0% 159 30.8% - - - - - HMMPfam_APOBEC_N RPL3 6122 genome.wustl.edu 37 22 39709298 39709298 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000967.3 -1 reviewed p.T355 1.000 64 0% 130 35.4% - - - - - superfamily_Translat_factor SYNGR1 9145 genome.wustl.edu 37 22 39770523 39770523 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004711.4 +1 reviewed p.R101H 1.000 14 0% 25 24% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MARVEL SYNGR1 9145 genome.wustl.edu 37 22 39771954 39771954 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000216155 +1 known p.H117Q 0.014 53 0% 78 42.3% - - unknown(0) - - HMMPfam_MARVEL TNRC6B 23112 genome.wustl.edu 37 22 40661854 40661854 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015088.2 +1 validated p.N540K 1.000 66 0% 69 29% - - possibly_damaging(0.643) deleterious(0.01) deleterious(0.631) NULL MCHR1 2847 genome.wustl.edu 37 22 41075470 41075470 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005297.3 +1 reviewed p.K7N 1.000 35 0% 47 21.3% - - unknown(0) deleterious(0) - NULL SLC25A17 10478 genome.wustl.edu 37 22 41188666 41188666 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006358.2 -1 validated p.R66Q 1.000 69 0% 78 19.2% - - unknown(0) - - superfamily_Mitochondrial carrier,HMMPfam_Mito_carr EP300 2033 genome.wustl.edu 37 22 41548329 41548329 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001429.3 +1 reviewed p.P1039 0.998 39 0% 13 46.2% - - - - - superfamily_Bromodomain CHADL 150356 genome.wustl.edu 37 22 41636834 41636834 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000445342 -1 known p.A22D 0.001 44 0% 102 20.6% - - possibly_damaging(0.948) - - NULL RANGAP1 5905 genome.wustl.edu 37 22 41645345 41645345 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002883.2 -1 reviewed p.A561 0.163 25 0% 74 32.4% - - - - - HMMPfam_RanGAP1_C,superfamily_RanGAP1_C RANGAP1 5905 genome.wustl.edu 37 22 41652269 41652269 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002883.2 -1 reviewed p.I305T 1.000 41 0% 91 42.9% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_SSF52047 ZC3H7B 23264 genome.wustl.edu 37 22 41751520 41751520 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017590.4 +1 reviewed p.K694N 1.000 76 0% 198 40.4% - - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL PMM1 5372 genome.wustl.edu 37 22 41974874 41974874 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002676.2 -1 reviewed p.I162 1.000 78 0% 148 28.4% - - - - - HMMPfam_PMM,superfamily_HAD-like C22orf46 79640 genome.wustl.edu 37 22 42086647 42086647 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001142964.1 +1 validated p.L6M 0.955 92 0% 141 20.6% - - benign(0.176) - - NULL MEI1 150365 genome.wustl.edu 37 22 42166937 42166937 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152513.3 +1 validated p.S839N 1.000 108 0% 75 26.7% - - probably_damaging(0.998) tolerated(0.36) deleterious(0.494) NULL SREBF2 6721 genome.wustl.edu 37 22 42273401 42273401 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004599.2 +1 reviewed p.R519C 1.000 90 0% 78 44.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CENPM 79019 genome.wustl.edu 37 22 42342459 42342459 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024053.3 -1 validated p.D33 0.055 16 0% 27 25.9% - - - - - NULL NAGA 4668 genome.wustl.edu 37 22 42463142 42463142 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000262.2 -1 reviewed p.F159L 1.000 33 0% 65 40% - - benign(0.071) deleterious(0.01) neutral(0.411) superfamily_Glyco_hydro_cat LOC100289204 100289204 genome.wustl.edu 37 22 42538565 42538565 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002343781.1 +1 model p.A247V 1.000 47 0% 59 39% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TCF20 6942 genome.wustl.edu 37 22 42606653 42606653 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005650.1 -1 reviewed p.Q1553H 0.978 331 0% 352 13.6% - - probably_damaging(0.996) deleterious(0.02) deleterious(0.845) NULL PACSIN2 11252 genome.wustl.edu 37 22 43287043 43287043 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007229.3 -1 reviewed p.H121 1.000 125 0% 149 40.9% - - - - - NULL TTLL12 23170 genome.wustl.edu 37 22 43575693 43575693 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015140.3 -1 validated p.P258S 1.000 47 0% 113 38.9% - - possibly_damaging(0.936) deleterious(0.01) deleterious(0.787) NULL SCUBE1 80274 genome.wustl.edu 37 22 43610139 43610139 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173050.2 -1 validated p.D670 0.948 9 0.000 29 0.414 - - - - - superfamily_Grow_fac_recept,HMMPfam_GCC2_GCC3 MPPED1 758 genome.wustl.edu 37 22 43820999 43820999 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001044370.1 +1 validated p.R3H 0.933 28 0% 53 13.2% - - probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL SAMM50 25813 genome.wustl.edu 37 22 44368185 44368185 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015380.4 +1 validated p.S131N 1.000 243 0% 195 11.3% - - benign(0.188) tolerated(0.05) neutral(0.363) NULL PARVG 64098 genome.wustl.edu 37 22 44586488 44586488 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001137605.1 +1 validated p.R149H 0.991 64 0% 97 41.2% - - benign(0.027) tolerated(1) neutral(0.002) HMMPfam_CH,superfamily_Calponin-homology domain CH-domain PARVG 64098 genome.wustl.edu 37 22 44592081 44592081 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001137605.1 +1 validated p.N210 0.000 164 0% 275 40.7% - - - - - superfamily_Calponin-homology domain CH-domain PRR5-ARHGAP8 553158 genome.wustl.edu 37 22 45122507 45122507 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_181334.4 +1 reviewed p.F10L 1.000 60 0% 108 28.7% - - probably_damaging(0.996) tolerated(0.53) deleterious(0.469) NULL PHF21B 112885 genome.wustl.edu 37 22 45312378 45312378 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138415.3 -1 validated p.A116T 0.999 41 0% 83 45.8% - - possibly_damaging(0.631) deleterious(0) deleterious(0.665) NULL KIAA0930 23313 genome.wustl.edu 37 22 45601161 45601161 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015264.1 -1 validated p.S156 1.000 77 0% 160 33.1% - - - - - HMMPfam_DUF2045 FBLN1 2192 genome.wustl.edu 37 22 45970525 45970525 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006486.2 +1 reviewed p.R611H 0.095 32 0% 37 29.7% - - possibly_damaging(0.942) tolerated(0.09) deleterious(0.683) NULL MIRLET7B 406884 genome.wustl.edu 37 22 46494399 46494399 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000381051 +1 known p.Q37R 0.000 85 0% 176 37.5% - - unknown(0) - - NULL PKDREJ 10343 genome.wustl.edu 37 22 46653089 46653089 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006071.1 -1 reviewed p.S2044Y 0.103 99 0% 161 37.3% - - probably_damaging(0.99) deleterious(0.01) deleterious(0.847) HMMPfam_PKD_channel CELSR1 9620 genome.wustl.edu 37 22 46761231 46761231 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014246.1 -1 reviewed p.S2817 1.000 58 0% 117 38.5% - - - - - NULL CELSR1 9620 genome.wustl.edu 37 22 46795696 46795696 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014246.1 -1 reviewed p.L1777P 1.000 114 0% 201 29.4% - - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 GRAMD4 23151 genome.wustl.edu 37 22 47070610 47070610 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015124.2 +1 validated p.D481N 0.999 39 0% 89 37.1% - - possibly_damaging(0.944) tolerated(0.08) deleterious(0.689) HMMPfam_GRAM,HMMSmart_SM00568 BRD1 23774 genome.wustl.edu 37 22 50191638 50191638 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014577.1 -1 reviewed p.C638Y 1.000 119 0% 225 36.4% - - possibly_damaging(0.952) deleterious(0) deleterious(0.840) HMMPfam_Bromodomain,HMMSmart_BROMO,superfamily_Bromodomain,PatternScan_BROMODOMAIN_1 BRD1 23774 genome.wustl.edu 37 22 50191759 50191759 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014577.1 -1 reviewed p.D598Y 1.000 95 0% 193 34.2% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_Bromodomain,HMMSmart_BROMO,superfamily_Bromodomain,PatternScan_BROMODOMAIN_1 BRD1 23774 genome.wustl.edu 37 22 50192706 50192706 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014577.1 -1 reviewed p.R529Q 1.000 33 0% 80 38.8% - - probably_damaging(0.963) deleterious(0) deleterious(0.850) NULL BRD1 23774 genome.wustl.edu 37 22 50216685 50216685 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014577.1 -1 reviewed p.R427S 1.000 153 0% 273 36.3% - - probably_damaging(0.958) tolerated(0.39) neutral(0.418) NULL ZBED4 9889 genome.wustl.edu 37 22 50278339 50278339 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014838.2 +1 validated p.N343 0.973 18 0% 39 41% - - - - - NULL ZBED4 9889 genome.wustl.edu 37 22 50280106 50280106 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014838.2 +1 validated p.S932 0.008 24 0% 41 24.4% - - - - - NULL ZBED4 9889 genome.wustl.edu 37 22 50280575 50280575 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014838.2 +1 validated p.L1089M 0.988 39 0% 77 46.8% - - probably_damaging(1) tolerated(0.05) deleterious(0.845) HMMPfam_hATC PIM3 415116 genome.wustl.edu 37 22 50356365 50356365 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001001852.3 +1 validated p.W215C 1.000 23 0% 34 35.3% - - possibly_damaging(0.875) deleterious(0.03) deleterious(0.705) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase IL17REL 400935 genome.wustl.edu 37 22 50436144 50436144 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001001694.2 -1 validated p.R283W 0.324 79 0% 173 39.9% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL MOV10L1 54456 genome.wustl.edu 37 22 50528925 50528925 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000428564 +1 known p.R7 0.001 68 0% 144 39.6% - - - - - NULL MOV10L1 54456 genome.wustl.edu 37 22 50547246 50547246 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018995.2 +1 reviewed p.A239V 0.992 131 0% 96 36.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL MOV10L1 54456 genome.wustl.edu 37 22 50591506 50591506 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018995.2 +1 reviewed p.H975 0.945 139 0% 223 36.8% - - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases SELO 83642 genome.wustl.edu 37 22 50644916 50644916 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031454.1 +1 reviewed p.T242M 0.838 68 0% 136 13.2% - - probably_damaging(0.992) deleterious(0.01) deleterious(0.853) HMMPfam_UPF0061 TUBGCP6 85378 genome.wustl.edu 37 22 50656429 50656429 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020461.3 -1 reviewed p.P1762 0.983 17 0% 46 41.3% - - - - - NULL TUBGCP6 85378 genome.wustl.edu 37 22 50667871 50667871 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020461.3 -1 reviewed p.V418I 0.006 21 0% 60 30% - - benign(0.123) tolerated(0.06) neutral(0.333) HMMPfam_Spc97_Spc98 MAPK12 6300 genome.wustl.edu 37 22 50694051 50694051 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002969.3 -1 reviewed p.S255N 0.998 53 0% 116 32.8% - - probably_damaging(0.991) tolerated(0.06) deleterious(0.766) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase MAPK11 5600 genome.wustl.edu 37 22 50703850 50703850 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002751.5 -1 reviewed p.H305 0.867 24 0% 60 40% - - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase FAM116B 414918 genome.wustl.edu 37 22 50751926 50751926 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001001794.3 -1 validated p.E432 1.000 29 0% 47 44.7% - - - - - HMMPfam_DUF1630 FAM116B 414918 genome.wustl.edu 37 22 50757499 50757499 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000433760 -1 known p.R9I 0.000 17 0% 34 50% - - unknown(0) - - NULL PPP6R2 9701 genome.wustl.edu 37 22 50877138 50877138 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014678.3 +1 validated p.A665V 0.001 28 0% 109 33% - - benign(0.022) tolerated(0.14) neutral(0.251) NULL SBF1 6305 genome.wustl.edu 37 22 50897721 50897721 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002972.2 -1 validated p.T1263 0.454 16 0% 21 38.1% - - - - - superfamily_(Phosphotyrosine protein) phosphatases II SBF1 6305 genome.wustl.edu 37 22 50900237 50900237 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002972.2 -1 validated p.P877 0.954 13 0% 28 39.3% - - - - - NULL MIOX 55586 genome.wustl.edu 37 22 50928213 50928213 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000395732 +1 known p.G258R 0.044 8 0.000 28 0.214 - - unknown(0) deleterious(0) - NULL LMF2 91289 genome.wustl.edu 37 22 50942056 50942056 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000487499 -1 known p.A636V 0.998 31 0% 71 32.4% - - - - - NULL LMF2 91289 genome.wustl.edu 37 22 50942261 50942261 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000487499 -1 known p.A604T 0.007 27 0% 56 21.4% - - - - - NULL LMF2 91289 genome.wustl.edu 37 22 50942854 50942854 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033200.2 -1 validated p.A520T 0.000 29 0% 62 11.3% - - benign(0.032) tolerated(0.65) neutral(0.005) HMMPfam_DUF1222 LMF2 91289 genome.wustl.edu 37 22 50943044 50943044 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033200.2 -1 validated p.T492M 0.992 13 0% 33 42.4% - - probably_damaging(0.99) tolerated(0.1) deleterious(0.728) HMMPfam_DUF1222 LMF2 91289 genome.wustl.edu 37 22 50944527 50944527 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000487499 -1 known p.R244C 0.998 20 0% 44 36.4% - - - - - HMMPfam_DUF1222 CPT1B 1375 genome.wustl.edu 37 22 51010461 51010461 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001145135.1 -1 reviewed p.R517W 1.000 57 0% 132 34.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Carn_acyltransf,superfamily_CoA-dependent acyltransferases CPT1B 1375 genome.wustl.edu 37 22 51011470 51011470 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001145135.1 -1 reviewed p.R396C 0.998 28 0% 56 35.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Carn_acyltransf,superfamily_CoA-dependent acyltransferases ARSA 410 genome.wustl.edu 37 22 51064490 51064490 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000487.4 -1 reviewed p.G325 0.942 8 0.000 31 0.452 - - - - - HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core SHANK3 85358 genome.wustl.edu 37 22 51153475 51153475 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080420.1 +1 reviewed p.S771 0.980 14 0% 61 36.1% - - - - - NULL RABL2B 11158 genome.wustl.edu 37 22 51207533 51207533 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001130923.1 -1 reviewed p.R185Q 0.993 470 0% 340 22.6% - - benign(0.04) tolerated(0.3) neutral(0.031) HMMSmart_SM00176,HMMSmart_SM00174,superfamily_P-loop containing nucleoside triphosphate hydrolases KIR2DL5B 553128 genome.wustl.edu 37 GL000209.1 88432 88432 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000400846 +1 known p.D64E NULL 386 0% 370 24.3% - - probably_damaging(0.993) tolerated(0.2) deleterious(0.499) HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726 ENSG00000215608 0 genome.wustl.edu 37 GL000212.1 126549 126549 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000400673 +1 known p.R82C NULL 35 0% 52 28.8% - - - - - NULL PLCXD1 55344 genome.wustl.edu 37 X 215849 215849 + Silent SNP G G A rs188377722 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018390.3 +1 reviewed p.T273 0.278 89 0% 147 38.8% - - - - - superfamily_PLC-like_Pdiesterase_TIM-brl CRLF2 64109 genome.wustl.edu 37 X 1321382 1321382 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000381567 -1 known p.V125M 0.000 179 0% 241 13.3% - - possibly_damaging(0.911) deleterious(0.05) deleterious(0.708) superfamily_Fibronectin type III CSF2RA 1438 genome.wustl.edu 37 X 1407705 1407705 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006140.4 +1 reviewed p.L133V 0.255 172 0% 209 26.3% - - possibly_damaging(0.643) tolerated(0.13) deleterious(0.478) superfamily_Fibronectin type III SLC25A6 293 genome.wustl.edu 37 X 1506263 1506263 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001636.3 -1 reviewed p.I216 0.959 45 0% 93 37.6% - - - - - superfamily_Mitochondrial carrier,HMMPfam_Mito_carr P2RY8 286530 genome.wustl.edu 37 X 1585351 1585351 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178129.4 -1 reviewed p.A34V 0.991 31 0% 51 23.5% - - probably_damaging(0.953) tolerated(0.22) neutral(0.439) superfamily_SSF81321 AKAP17A 8227 genome.wustl.edu 37 X 1718351 1718351 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000381261 +1 known p.R393H 0.114 22 0% 47 31.9% - - unknown(0) deleterious(0.03) - NULL ARSE 415 genome.wustl.edu 37 X 2853012 2853012 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000047.2 -1 reviewed p.A544V 0.996 151 0% 194 47.9% - - benign(0.299) deleterious(0) deleterious(0.537) superfamily_Alkaline_phosphatase_core ARSE 415 genome.wustl.edu 37 X 2876421 2876421 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000047.2 -1 reviewed p.P27S 0.006 92 0% 76 44.7% - - probably_damaging(0.997) tolerated(0.52) deleterious(0.475) NULL MXRA5 25878 genome.wustl.edu 37 X 3229491 3229491 + Silent SNP G G A rs191500002 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015419.3 -1 reviewed p.N2251 0.001 95 0% 140 43.6% - - - - - HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin MXRA5 25878 genome.wustl.edu 37 X 3235154 3235154 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015419.3 -1 reviewed p.A2190T 0.999 6 0.000 20 0.600 - - benign(0.115) tolerated(0.18) neutral(0.065) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin MXRA5 25878 genome.wustl.edu 37 X 3235467 3235467 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015419.3 -1 reviewed p.D2085 0.991 29 0% 68 39.7% - - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin MXRA5 25878 genome.wustl.edu 37 X 3238980 3238980 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015419.3 -1 reviewed p.G1582 0.000 342 0% 329 36.2% - - - - - NULL MXRA5 25878 genome.wustl.edu 37 X 3242275 3242275 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015419.3 -1 reviewed p.A484V 0.000 48 0% 58 37.9% - - possibly_damaging(0.668) tolerated(0.13) deleterious(0.489) superfamily_Immunoglobulin MXRA5 25878 genome.wustl.edu 37 X 3261805 3261805 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015419.3 -1 reviewed p.A24T 0.000 22 0% 58 41.4% - - benign(0) tolerated(0.21) neutral(0.044) NULL PRKX 5613 genome.wustl.edu 37 X 3559907 3559907 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005044.4 -1 reviewed p.F235 1.000 94 0% 63 42.9% - - - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase NLGN4X 57502 genome.wustl.edu 37 X 5810863 5810863 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020742.2 -1 reviewed p.V816L 1.000 344 0% 182 30.8% - - possibly_damaging(0.89) deleterious(0) deleterious(0.794) NULL VCX3A 51481 genome.wustl.edu 37 X 6452044 6452044 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016379.3 -1 reviewed p.H101 0.015 359 0.3% 419 13.1% - - - - - NULL VCX 26609 genome.wustl.edu 37 X 7811572 7811572 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013452.2 +1 reviewed p.R46C 0.030 655 0.2% 711 10.5% - - unknown(0) deleterious(0) - NULL VCX2 51480 genome.wustl.edu 37 X 8138357 8138357 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016378.2 -1 reviewed p.R46C 0.001 349 0% 415 15.7% - - unknown(0) deleterious(0) - NULL VCX3B 425054 genome.wustl.edu 37 X 8433971 8433971 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001001888.2 +1 reviewed p.S96 0.856 311 0.3% 426 16% - - - - - NULL FAM9A 171482 genome.wustl.edu 37 X 8764391 8764391 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_174951.3 -1 validated p.E136* 0.003 465 0% 541 32.2% - - - - - NULL WWC3 55841 genome.wustl.edu 37 X 10085309 10085309 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015691.3 +1 validated p.D404N 1.000 22 0% 43 39.5% - - probably_damaging(0.981) deleterious(0.03) deleterious(0.790) NULL CLCN4 1183 genome.wustl.edu 37 X 10180579 10180579 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001830.3 +1 reviewed p.E488K 1.000 43 0% 47 42.6% - - possibly_damaging(0.544) deleterious(0.05) deleterious(0.530) HMMPfam_Voltage_CLC,superfamily_Clc chloride channel CLCN4 1183 genome.wustl.edu 37 X 10188851 10188851 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001830.3 +1 reviewed p.P709L 1.000 75 0% 51 47.1% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_CBS,HMMSmart_SM00116,superfamily_CBS-domain ARHGAP6 395 genome.wustl.edu 37 X 11196325 11196325 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013427.2 -1 reviewed p.I508M 1.000 131 0% 77 14.3% - - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP TLR8 51311 genome.wustl.edu 37 X 12928544 12928544 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000311912 +1 known p.G14R 0.000 119 0% 56 35.7% - - benign(0.017) deleterious(0) neutral(0.445) NULL TLR8 51311 genome.wustl.edu 37 X 12937921 12937921 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138636.4 +1 reviewed p.S254 0.547 82 0% 30 30% - - - - - superfamily_SSF52047 TLR8 51311 genome.wustl.edu 37 X 12937927 12937927 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138636.4 +1 reviewed p.N256 1.000 89 0% 28 53.6% - - - - - superfamily_SSF52047 TLR8 51311 genome.wustl.edu 37 X 12939989 12939989 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138636.4 +1 reviewed p.F944V 1.000 88 0% 28 50% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TIR,superfamily_TIR TCEANC 170082 genome.wustl.edu 37 X 13681116 13681116 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152634.2 +1 validated p.S193 0.000 65 0% 36 19.4% - - - - - superfamily_Elongation factor TFIIS domain 2 TCEANC 170082 genome.wustl.edu 37 X 13681615 13681615 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152634.2 +1 validated p.M360L 0.994 151 0% 75 42.7% - - benign(0.002) deleterious(0.02) neutral(0.383) superfamily_Zinc beta-ribbon OFD1 8481 genome.wustl.edu 37 X 13764499 13764499 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003611.2 +1 reviewed p.F193 0.271 158 0% 62 43.5% - - - - - NULL GLRA2 2742 genome.wustl.edu 37 X 14748581 14748581 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001118885.1 +1 reviewed p.R445W 1.000 119 0% 26 30.8% - - benign(0.029) deleterious(0.02) neutral(0.385) superfamily_Neurotransmitter-gated ion-channel transmembrane pore FANCB 2187 genome.wustl.edu 37 X 14882704 14882704 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001018113.1 -1 reviewed p.A310D 0.998 90 0% 40 10% - - probably_damaging(0.993) deleterious(0.01) deleterious(0.856) NULL PIGA 5277 genome.wustl.edu 37 X 15349811 15349811 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002641.2 -1 reviewed p.R81H 1.000 195 0% 158 41.1% - - probably_damaging(0.996) deleterious(0.04) deleterious(0.810) HMMPfam_PIGA,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase PIR 8544 genome.wustl.edu 37 X 15477833 15477833 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001018109.1 -1 reviewed p.A74T 1.000 119 0% 63 39.7% - - benign(0.001) tolerated(0.74) neutral(0.002) HMMPfam_Pirin,superfamily_RmlC_like_cupin ACE2 59272 genome.wustl.edu 37 X 15603680 15603680 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021804.2 -1 reviewed p.R273K 1.000 169 0% 37 35.1% - - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) "HMMPfam_Peptidase_M2,superfamily_Metalloproteases (""zincins"") catalytic domain" TMEM27 57393 genome.wustl.edu 37 X 15657808 15657808 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020665.4 -1 reviewed p.S130Y 0.647 225 0% 185 30.8% - - benign(0.313) deleterious(0) deleterious(0.542) NULL CTPS2 56474 genome.wustl.edu 37 X 16685815 16685815 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001144002.1 -1 reviewed p.E408* 1.000 158 0% 84 31% - - - - - HMMPfam_GATase,superfamily_Class I glutamine amidotransferase-like CTPS2 56474 genome.wustl.edu 37 X 16696535 16696535 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001144002.1 -1 reviewed p.T348 0.000 213 0% 142 32.4% - - - - - HMMPfam_GATase,superfamily_Class I glutamine amidotransferase-like CTPS2 56474 genome.wustl.edu 37 X 16711512 16711512 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001144002.1 -1 reviewed p.H179 0.941 152 0% 112 20.5% - - - - - HMMPfam_CTP_synth_N,superfamily_P-loop containing nucleoside triphosphate hydrolases TXLNG 55787 genome.wustl.edu 37 X 16850791 16850791 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018360.2 +1 reviewed p.V304M 0.988 145 0.7% 94 33% - - benign(0.212) tolerated(0.2) neutral(0.070) HMMPfam_Taxilin TXLNG 55787 genome.wustl.edu 37 X 16859706 16859706 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018360.2 +1 reviewed p.A468 0.001 78 0% 36 50% - - - - - NULL NHS 4810 genome.wustl.edu 37 X 17750534 17750534 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198270.2 +1 reviewed p.N1615H 1.000 58 0% 76 31.6% - - possibly_damaging(0.945) deleterious(0.04) deleterious(0.738) NULL RS1 6247 genome.wustl.edu 37 X 18665353 18665353 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000330.3 -1 reviewed p.S95L 1.000 112 0% 140 12.1% - - probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_F5_F8_type_C,HMMSmart_FA58C,superfamily_Gal_bind_like PPEF1 5475 genome.wustl.edu 37 X 18797190 18797190 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006240.2 +1 reviewed p.K207N 0.996 150 0% 132 40.9% - - benign(0.02) tolerated(0.08) neutral(0.301) HMMPfam_Metallophos,HMMSmart_SM00156,superfamily_Metallo-dependent phosphatases PHKA2 5256 genome.wustl.edu 37 X 18911622 18911622 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000292.2 -1 reviewed p.S1230L 0.995 112 0% 139 48.9% - - benign(0.338) tolerated(0.2) neutral(0.155) HMMPfam_PHK_AB ENSG00000250774 0 genome.wustl.edu 37 X 18918766 18918766 + RNA SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000502927 +1 known NULL 0.000 193 0% 191 33.5% - - - - - - PHKA2 5256 genome.wustl.edu 37 X 18958138 18958138 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000292.2 -1 reviewed p.R298Q 1.000 106 0% 71 35.2% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_PHK_AB,superfamily_Six-hairpin glycosidases PHKA2 5256 genome.wustl.edu 37 X 19002004 19002004 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000292.2 -1 reviewed p.R16Q 1.000 29 0% 63 34.9% - - benign(0.355) tolerated(0.27) neutral(0.146) HMMPfam_PHK_AB,superfamily_Six-hairpin glycosidases MAP3K15 389840 genome.wustl.edu 37 X 19410119 19410119 + Splice_Site SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001001671.3 -1 validated e9+1 1.000 68 0% 39 28.2% - - - - - - MAP3K15 389840 genome.wustl.edu 37 X 19410130 19410130 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001001671.3 -1 validated p.E282D 0.956 71 0% 41 31.7% - - probably_damaging(0.978) tolerated(0.12) deleterious(0.681) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase MAP3K15 389840 genome.wustl.edu 37 X 19416387 19416387 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001001671.3 -1 validated p.Q150* 1.000 133 0% 56 44.6% - - - - - HMMSmart_S_TKc,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase SH3KBP1 30011 genome.wustl.edu 37 X 19560255 19560255 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031892.2 -1 reviewed p.G560 0.000 41 0% 64 31.2% - - - - - NULL CXorf23 256643 genome.wustl.edu 37 X 19953995 19953995 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198279.3 -1 validated p.D599Y 0.053 447 0% 190 32.6% - - possibly_damaging(0.597) deleterious(0) deleterious(0.651) NULL CXorf23 256643 genome.wustl.edu 37 X 19984654 19984654 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198279.3 -1 validated p.D52G 0.798 153 0% 68 33.8% - - possibly_damaging(0.586) deleterious(0) deleterious(0.647) NULL MAP7D2 256714 genome.wustl.edu 37 X 20043939 20043939 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152780.3 -1 validated p.S339N 1.000 237 0% 115 31.3% - - unknown(0) tolerated(0.39) - NULL RPS6KA3 6197 genome.wustl.edu 37 X 20185779 20185779 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004586.2 -1 reviewed p.F510L 1.000 165 0% 71 35.2% - - benign(0.031) tolerated(0.65) neutral(0.005) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase RPS6KA3 6197 genome.wustl.edu 37 X 20204433 20204433 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004586.2 -1 reviewed p.T276A 1.000 244 0% 74 25.7% - - benign(0.375) deleterious(0.02) deleterious(0.502) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase RPS6KA3 6197 genome.wustl.edu 37 X 20222222 20222222 + Splice_Site SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004586.2 -1 reviewed e4-1 1.000 88 0% 27 33.3% - - - - - - MBTPS2 51360 genome.wustl.edu 37 X 21887760 21887760 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015884.3 +1 reviewed p.A312T 0.999 98 0% 52 30.8% - - benign(0.001) tolerated(0.54) neutral(0.007) HMMPfam_Peptidase_M50 MBTPS2 51360 genome.wustl.edu 37 X 21896201 21896201 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015884.3 +1 reviewed p.H338Y 1.000 99 0% 26 23.1% - - benign(0.133) tolerated(0.71) neutral(0.012) HMMPfam_Peptidase_M50 SMS 6611 genome.wustl.edu 37 X 21990655 21990655 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004595.2 +1 reviewed p.E99* 1.000 178 0% 91 29.7% - - - - - NULL PHEX 5251 genome.wustl.edu 37 X 22237175 22237175 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000444.4 +1 reviewed p.G575* 1.000 333 0% 107 35.5% - - - - - HMMPfam_Peptidase_M13,superfamily_SSF55486 PTCHD1 139411 genome.wustl.edu 37 X 23353269 23353269 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173495.2 +1 validated p.Y93H 1.000 39 0% 108 38% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Patched PTCHD1 139411 genome.wustl.edu 37 X 23410762 23410762 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173495.2 +1 validated p.S376Y 1.000 115 0% 50 38% - - benign(0.081) - - HMMPfam_Patched,superfamily_Multidrug efflux transporter AcrB transmembrane domain PTCHD1 139411 genome.wustl.edu 37 X 23411051 23411051 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173495.2 +1 validated p.G472 0.013 73 0% 38 34.2% - - - - - HMMPfam_Patched APOO 79135 genome.wustl.edu 37 X 23925876 23925876 + RNA SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NR_026545.2 -1 reviewed NULL 0.000 6 0.000 18 0.389 - - - - - - CXorf58 254158 genome.wustl.edu 37 X 23953417 23953417 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152761.2 +1 validated p.D220 1.000 80 0% 51 27.5% - - - - - NULL KLHL15 80311 genome.wustl.edu 37 X 24024641 24024641 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_030624.2 -1 reviewed p.R57I 1.000 120 0% 69 29% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB EIF2S3 1968 genome.wustl.edu 37 X 24082445 24082445 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001415.3 +1 reviewed p.R255 0.989 130 0% 61 41% - - - - - superfamily_Translation proteins ZFX 7543 genome.wustl.edu 37 X 24228535 24228535 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003410.3 +1 reviewed p.A487V 0.999 242 0% 141 26.2% - - benign(0) deleterious(0.04) neutral(0.349) superfamily_C2H2 and C2HC zinc fingers FAM48B2 170067 genome.wustl.edu 37 X 24330783 24330783 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001136233.1 -1 provisional p.A217V 0.963 186 0% 250 34% - - - - - NULL PCYT1B 9468 genome.wustl.edu 37 X 24597473 24597473 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004845.4 -1 reviewed p.R223I 1.000 238 0% 97 34% - - - - - superfamily_Nucleotidylyl transferase PCYT1B 9468 genome.wustl.edu 37 X 24637154 24637154 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004845.4 -1 reviewed p.C55 1.000 261 0% 103 20.4% - - - - - NULL POLA1 5422 genome.wustl.edu 37 X 24760155 24760155 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016937.3 +1 reviewed p.E789K 1.000 77 0% 69 42% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DNA_pol_B,HMMSmart_POLBc,superfamily_RNaseH_fold,superfamily_SSF56672 POLA1 5422 genome.wustl.edu 37 X 24830965 24830965 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016937.3 +1 reviewed p.A1088D 1.000 84 0% 33 30.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DNA_pol_B,superfamily_SSF56672 ARX 170302 genome.wustl.edu 37 X 25022796 25022796 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_139058.2 -1 reviewed p.E560D 1.000 8 0.000 25 0.200 - - probably_damaging(0.971) deleterious(0) deleterious(0.857) NULL MAGEB6 158809 genome.wustl.edu 37 X 26212350 26212350 + Silent SNP C C T rs183964860 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173523.2 +1 reviewed p.N129 0.000 77 0% 51 15.7% - - - - - NULL DCAF8L2 347442 genome.wustl.edu 37 X 27765258 27765258 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001136533.1 +1 provisional p.I82 0.000 118 0% 77 33.8% - - - - - NULL LOC392435 392435 genome.wustl.edu 37 X 27850384 27850384 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002343800.1 +1 model p.A66T 0.000 11 0.000 8 0.750 - - - - - NULL IL1RAPL1 11141 genome.wustl.edu 37 X 29973335 29973335 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014271.3 +1 reviewed p.R497* 1.000 108 0% 44 45.5% - - - - - HMMPfam_TIR,HMMSmart_SM00255,superfamily_Toll/Interleukin receptor TIR domain MAGEB2 4113 genome.wustl.edu 37 X 30237495 30237495 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002364.4 +1 reviewed p.S266 0.051 157 0% 83 28.9% - - - - - HMMPfam_MAGE MAGEB4 4115 genome.wustl.edu 37 X 30260590 30260590 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002367.3 +1 reviewed p.T113M 0.000 75 0% 70 38.6% - - probably_damaging(0.987) tolerated(0.05) deleterious(0.782) NULL MAGEB4 4115 genome.wustl.edu 37 X 30260999 30260999 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002367.3 +1 reviewed p.L249 0.028 146 0% 126 10.3% - - - - - HMMPfam_MAGE CXorf21 80231 genome.wustl.edu 37 X 30578413 30578413 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_025159.2 -1 validated p.C20 0.001 65 0% 28 21.4% - - - - - NULL TAB3 257397 genome.wustl.edu 37 X 30872637 30872637 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152787.3 -1 reviewed p.R382K 1.000 442 0% 194 39.2% - - possibly_damaging(0.806) tolerated(0.59) neutral(0.308) NULL FTHL17 53940 genome.wustl.edu 37 X 31089897 31089897 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031894.2 -1 reviewed p.R58 0.000 70 0% 79 34.2% - - - - - HMMPfam_Ferritin,superfamily_Ferritin/RR_like DMD 1756 genome.wustl.edu 37 X 31196878 31196878 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004006.2 -1 reviewed p.K3377N 1.000 144 0% 38 28.9% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL DMD 1756 genome.wustl.edu 37 X 31462697 31462697 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000465285 -1 known p.Q724K 0.998 150 0% 31 32.3% - - - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat DMD 1756 genome.wustl.edu 37 X 31854892 31854892 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004006.2 -1 reviewed p.E2381D 0.999 324 0% 148 35.1% - - benign(0.009) tolerated(0.69) neutral(0.003) superfamily_Spectrin repeat DMD 1756 genome.wustl.edu 37 X 32472913 32472913 + Missense_Mutation SNP C C T rs128625226 TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004006.2 -1 reviewed p.E1157K 1.000 199 0.5% 43 37.2% - - benign(0.046) tolerated(0.15) neutral(0.243) HMMPfam_Spectrin DMD 1756 genome.wustl.edu 37 X 32563387 32563387 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004006.2 -1 reviewed p.T686I 1.000 328 0% 60 25% - - probably_damaging(0.999) tolerated(0.46) deleterious(0.502) NULL FAM47A 158724 genome.wustl.edu 37 X 34150213 34150213 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_203408.3 -1 validated p.G61 0.008 120 0% 128 10.9% - - - - - NULL MAGEB16 139604 genome.wustl.edu 37 X 35820658 35820658 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001099921.1 +1 provisional p.Q115H 0.001 112 0% 61 42.6% - - benign(0.004) tolerated(0.09) neutral(0.296) NULL CXorf22 170063 genome.wustl.edu 37 X 35993954 35993954 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152632.3 +1 validated p.Q879H 0.008 150 0.7% 45 31.1% - - probably_damaging(0.957) tolerated(0.18) neutral(0.457) NULL LANCL3 347404 genome.wustl.edu 37 X 37518857 37518857 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198511.2 +1 validated p.L280 0.022 64 0% 15 40% - - - - - HMMPfam_LANC_like,superfamily_Glyco_trans_6hp LANCL3 347404 genome.wustl.edu 37 X 37526656 37526656 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198511.2 +1 validated p.I339M 0.991 90 0% 21 38.1% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_LANC_like,superfamily_Glyco_trans_6hp XK 7504 genome.wustl.edu 37 X 37553759 37553759 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021083.2 +1 reviewed p.L156 1.000 61 0% 65 41.5% - - - - - HMMPfam_XK-related XK 7504 genome.wustl.edu 37 X 37587549 37587549 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021083.2 +1 reviewed p.R390M 0.000 105 0% 31 35.5% - - benign(0) tolerated(0.1) neutral(0.286) NULL CYBB 1536 genome.wustl.edu 37 X 37664352 37664352 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000397.3 +1 reviewed p.P415 0.995 268 0% 53 47.2% - - - - - HMMPfam_NAD_binding_6,superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain SRPX 8406 genome.wustl.edu 37 X 38020192 38020192 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006307.4 -1 validated p.V257L 1.000 120 0% 56 19.6% - - benign(0.004) deleterious(0.01) neutral(0.406) HMMPfam_HYR RPGR 6103 genome.wustl.edu 37 X 38150692 38150692 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001034853.1 -1 reviewed p.S487Y 0.000 181 0% 61 19.7% - - possibly_damaging(0.731) deleterious(0.01) deleterious(0.673) NULL OTC 5009 genome.wustl.edu 37 X 38260608 38260608 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000531.5 +1 reviewed p.S156Y 1.000 240 0% 96 33.3% - - benign(0.003) deleterious(0) neutral(0.445) superfamily_Aspartate/ornithine carbamoyltransferase,HMMPfam_OTCace_N BCOR 54880 genome.wustl.edu 37 X 39921437 39921437 + Silent SNP G G A rs189731022 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000427012 -1 known p.T156M 0.043 78 0% 104 30.8% - - - - - superfamily_Ankyrin repeat BCOR 54880 genome.wustl.edu 37 X 39922186 39922186 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001123385.1 -1 reviewed p.K1329R 1.000 234 0% 293 33.4% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL BCOR 54880 genome.wustl.edu 37 X 39932845 39932845 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001123385.1 -1 reviewed p.R585M 0.840 117 0% 145 39.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL BCOR 54880 genome.wustl.edu 37 X 39933378 39933378 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001123385.1 -1 reviewed p.P407 0.000 46 0% 77 33.8% - - - - - NULL BCOR 54880 genome.wustl.edu 37 X 39934214 39934214 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001123385.1 -1 reviewed p.P129S 0.035 110 0% 172 25% - - benign(0.002) deleterious(0) neutral(0.445) NULL BCOR 54880 genome.wustl.edu 37 X 39934313 39934313 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001123385.1 -1 reviewed p.L96 1.000 38 0% 76 11.8% - - - - - NULL BCOR 54880 genome.wustl.edu 37 X 39934335 39934335 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001123385.1 -1 reviewed p.I88 0.985 24 0% 60 48.3% - - - - - NULL ATP6AP2 10159 genome.wustl.edu 37 X 40456836 40456836 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005765.2 +1 reviewed p.R152C 0.965 68 0% 42 52.4% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ATP6AP2 10159 genome.wustl.edu 37 X 40456897 40456897 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005765.2 +1 reviewed p.S172Y 1.000 104 0% 38 23.7% - - probably_damaging(1) tolerated(0.24) deleterious(0.537) NULL USP9X 8239 genome.wustl.edu 37 X 41027380 41027380 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001039590.2 +1 reviewed p.R849* 1.000 312 0% 114 31.6% - - - - - NULL USP9X 8239 genome.wustl.edu 37 X 41029422 41029422 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001039590.2 +1 reviewed p.G937 0.610 205 0% 68 32.4% - - - - - NULL DDX3X 1654 genome.wustl.edu 37 X 41201790 41201790 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001356.3 +1 reviewed p.S109 1.000 234 0% 171 39.2% - - - - - NULL DDX3X 1654 genome.wustl.edu 37 X 41203540 41203540 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001356.3 +1 reviewed p.D305N 1.000 427 0.2% 311 35.7% - - benign(0.001) tolerated(0.23) neutral(0.042) HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases MAOA 4128 genome.wustl.edu 37 X 43599940 43599940 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000240.2 +1 reviewed p.I373 1.000 178 0.6% 73 38.4% - - - - - HMMPfam_Amino_oxidase,superfamily_FAD/NAD(P)-binding domain,superfamily_FAD-linked reductases C-terminal domain MAOA 4128 genome.wustl.edu 37 X 43603370 43603370 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000240.2 +1 reviewed p.L463 0.013 165 0% 63 41.3% - - - - - superfamily_FAD/NAD(P)-binding domain EFHC2 80258 genome.wustl.edu 37 X 44109508 44109508 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000333807 -1 known p.E264* 0.995 111 0% 45 37.8% - - - - - HMMSmart_SM00676,HMMPfam_DUF1126 DUSP21 63904 genome.wustl.edu 37 X 44703749 44703749 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022076.3 +1 reviewed p.Y124C 1.000 75 0% 59 39% - - probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMPfam_DSPc,HMMSmart_DSPc,superfamily_SSF52799 KDM6A 7403 genome.wustl.edu 37 X 44949994 44949994 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021140.2 +1 reviewed p.R1255W 1.000 260 0% 104 36.5% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_JmjC CXorf36 79742 genome.wustl.edu 37 X 45011128 45011128 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_176819.3 -1 validated p.S357 1.000 52 0% 38 34.2% - - - - - NULL CXorf36 79742 genome.wustl.edu 37 X 45059986 45059986 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_176819.3 -1 validated p.S29Y 0.000 98 0% 84 39.3% - - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL RP2 6102 genome.wustl.edu 37 X 46713138 46713138 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006915.2 +1 reviewed p.C110 0.925 111 0% 62 37.1% - - - - - HMMSmart_CARP,HMMPfam_TBCC PHF16 9767 genome.wustl.edu 37 X 46857618 46857618 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001077445.1 +1 reviewed p.E75K 1.000 137 0% 74 25.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_EPL1 NDUFB11 54539 genome.wustl.edu 37 X 47001752 47001752 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_019056.5 -1 validated p.F152 0.966 130 0% 189 38.1% - - - - - HMMPfam_ESSS RBM10 8241 genome.wustl.edu 37 X 47006896 47006896 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005676.3 +1 reviewed p.R6C 1.000 81 0% 109 30.3% - - unknown(0) deleterious(0) - NULL UBA1 7317 genome.wustl.edu 37 X 47062997 47062997 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003334.3 +1 reviewed p.G493C 1.000 208 0% 326 39.3% - - probably_damaging(0.995) tolerated(0.06) deleterious(0.780) HMMPfam_ThiF,superfamily_MoeB UBA1 7317 genome.wustl.edu 37 X 47072254 47072254 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003334.3 +1 reviewed p.R880W 1.000 129 0.8% 233 10.3% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_UBACT,superfamily_MoeB UBA1 7317 genome.wustl.edu 37 X 47074220 47074220 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003334.3 +1 reviewed p.S1023 0.993 78 0% 118 39.8% - - - - - HMMPfam_UBA_e1_C USP11 8237 genome.wustl.edu 37 X 47104771 47104771 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004651.3 +1 reviewed p.G763 1.000 52 0% 82 39% - - - - - HMMPfam_UCH,superfamily_SSF54001 ZNF41 7592 genome.wustl.edu 37 X 47307603 47307603 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007130.2 -1 reviewed p.P522 0.231 268 0% 163 36.8% - - - - - superfamily_C2H2 and C2HC zinc fingers ARAF 369 genome.wustl.edu 37 X 47429358 47429358 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001654.3 +1 reviewed p.G496R 0.999 46 0% 66 37.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Kinase_like,HMMPfam_Pkinase SYN1 6853 genome.wustl.edu 37 X 47434112 47434112 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006950.3 -1 reviewed p.P456 0.123 21 0% 66 45.5% - - - - - NULL ELK1 2002 genome.wustl.edu 37 X 47500663 47500663 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001114123.1 -1 reviewed p.L60F 1.000 124 0% 171 32.2% - - possibly_damaging(0.945) deleterious(0) deleterious(0.834) "HMMPfam_Ets,HMMSmart_SM00413,PatternScan_ETS_DOMAIN_2,superfamily_""Winged helix"" DNA-binding domain" ZNF182 7569 genome.wustl.edu 37 X 47836836 47836836 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006962.1 -1 reviewed p.R217Q 0.000 104 0% 53 34% - - benign(0) tolerated(0.85) neutral(0.001) NULL SPACA5 389852 genome.wustl.edu 37 X 47867818 47867818 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_205856.2 +1 validated p.V64M 0.008 289 0% 338 14.8% - - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMPfam_Lys,HMMSmart_LYZ1,superfamily_SSF53955 SPACA5 389852 genome.wustl.edu 37 X 47867870 47867870 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_205856.2 +1 validated p.S81Y 0.384 311 0% 320 17.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Lys,HMMSmart_LYZ1,superfamily_SSF53955 ZNF630 57232 genome.wustl.edu 37 X 47918559 47918559 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001037735.2 -1 validated p.T424 0.018 146 0.7% 48 12.5% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF630 57232 genome.wustl.edu 37 X 47918967 47918967 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001037735.2 -1 validated p.E288D 1.000 166 0% 68 33.8% - - benign(0.005) tolerated(0.09) neutral(0.296) superfamily_SSF57667 SSX6 280657 genome.wustl.edu 37 X 47969938 47969938 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000304314 +1 known p.S88 0.001 784 0% 739 38.2% - - - - - HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) SSX4B 548313 genome.wustl.edu 37 X 48270259 48270259 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001034832.2 -1 reviewed p.M40V 0.000 758 0% 491 16.9% - - probably_damaging(0.959) deleterious(0.01) deleterious(0.808) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box SLC38A5 92745 genome.wustl.edu 37 X 48319046 48319046 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033518.2 -1 validated p.V353M 1.000 24 0% 29 31% - - probably_damaging(0.975) deleterious(0) deleterious(0.861) HMMPfam_Aa_trans SLC38A5 92745 genome.wustl.edu 37 X 48325447 48325447 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033518.2 -1 validated p.S49 0.104 58 0% 89 33.7% - - - - - HMMPfam_Aa_trans SLC38A5 92745 genome.wustl.edu 37 X 48325451 48325451 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033518.2 -1 validated p.T48I 1.000 57 0% 84 39.3% - - probably_damaging(0.975) deleterious(0.01) deleterious(0.823) HMMPfam_Aa_trans TBC1D25 4943 genome.wustl.edu 37 X 48418262 48418262 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002536.2 +1 validated p.A322 0.141 25 0% 29 24.1% - - - - - HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p LOC729275 729275 genome.wustl.edu 37 X 48433765 48433765 + RNA SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XR_078586.1 -1 model NULL 0.000 41 0% 65 40% - - - - - - WDR13 64743 genome.wustl.edu 37 X 48458724 48458724 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017883.4 +1 reviewed p.A181T 1.000 23 0% 38 26.3% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00320,superfamily_WD40 repeat-like LOC100289403 100289403 genome.wustl.edu 37 X 48460405 48460405 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002343810.1 -1 model p.P53S 0.000 47 0% 98 39.8% - - - - - NULL SUV39H1 6839 genome.wustl.edu 37 X 48564691 48564691 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003173.2 +1 reviewed p.Q288H 1.000 33 0% 68 30.9% - - benign(0.004) tolerated(0.19) neutral(0.050) HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain GATA1 2623 genome.wustl.edu 37 X 48649615 48649615 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002049.3 +1 reviewed p.F33L 0.993 12 0% 17 35.3% - - benign(0.24) tolerated(0.62) neutral(0.028) NULL HDAC6 10013 genome.wustl.edu 37 X 48681204 48681204 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006044.2 +1 reviewed p.K838Q 0.947 46 0% 117 33.3% - - benign(0.033) tolerated(0.3) neutral(0.030) NULL GRIPAP1 56850 genome.wustl.edu 37 X 48846063 48846063 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020137.3 -1 reviewed p.R277Q 0.430 158 0% 176 33% - - possibly_damaging(0.482) tolerated(0.35) neutral(0.180) NULL TFE3 7030 genome.wustl.edu 37 X 48888962 48888962 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006521.4 -1 reviewed p.R412W 1.000 74 0% 121 19% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_HLH_basic TFE3 7030 genome.wustl.edu 37 X 48891006 48891006 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006521.4 -1 reviewed p.G370 0.994 118 0% 152 12.5% - - - - - HMMPfam_HLH,HMMSmart_HLH,superfamily_HLH_basic CCDC120 90060 genome.wustl.edu 37 X 48924828 48924828 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033626.2 +1 reviewed p.S358I 1.000 7 0.000 29 0.483 - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL PRICKLE3 4007 genome.wustl.edu 37 X 49033356 49033356 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006150.3 -1 reviewed p.A384V 0.003 35 0% 71 40.8% - - benign(0.019) deleterious(0.02) neutral(0.384) NULL PRICKLE3 4007 genome.wustl.edu 37 X 49034529 49034529 + Splice_Site SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006150.3 -1 reviewed e7-1 1.000 38 0% 67 38.8% - - - - - - SYP 6855 genome.wustl.edu 37 X 49047973 49047973 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003179.2 -1 reviewed p.G288D 1.000 13 0% 23 39.1% - - unknown(0) deleterious(0.04) - NULL SYP 6855 genome.wustl.edu 37 X 49050734 49050734 + Silent SNP G G A rs185819998 by1000genomes TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003179.2 -1 reviewed p.A104 0.076 146 0.7% 212 31.6% - - - - - HMMPfam_MARVEL CACNA1F 778 genome.wustl.edu 37 X 49079225 49079225 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005183.2 -1 reviewed p.G731* 1.000 214 0% 234 12% - - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CACNA1F 778 genome.wustl.edu 37 X 49088147 49088147 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005183.2 -1 reviewed p.E90* 1.000 59 0% 126 37.3% - - - - - superfamily_Voltage-gated potassium channels PPP1R3F 89801 genome.wustl.edu 37 X 49142427 49142427 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033215.4 +1 reviewed p.G425 0.969 32 0% 49 30.6% - - - - - NULL CCNB3 85417 genome.wustl.edu 37 X 50052075 50052075 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033031.2 +1 reviewed p.P302 0.015 71 0% 22 18.2% - - - - - NULL CCNB3 85417 genome.wustl.edu 37 X 50052195 50052195 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033031.2 +1 reviewed p.E342D 0.000 107 0% 30 16.7% - - possibly_damaging(0.45) deleterious(0) deleterious(0.592) NULL SHROOM4 57477 genome.wustl.edu 37 X 50381209 50381209 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020717.3 -1 reviewed p.A123 1.000 75 0% 59 15.3% - - - - - NULL GSPT2 23708 genome.wustl.edu 37 X 51487126 51487126 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018094.4 +1 reviewed p.P135H 0.996 83 0% 104 38.5% - - benign(0.355) deleterious(0.01) deleterious(0.518) NULL GSPT2 23708 genome.wustl.edu 37 X 51487530 51487530 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018094.4 +1 reviewed p.E270K 1.000 251 0% 360 39.2% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_GTP_EFTU,PatternScan_EFACTOR_GTP,superfamily_SSF52540 MAGED1 9500 genome.wustl.edu 37 X 51637766 51637766 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005333.1 +1 reviewed p.P30L 0.078 86 0% 118 28.8% - - unknown(0) deleterious(0) - NULL MAGED1 9500 genome.wustl.edu 37 X 51639858 51639858 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005333.1 +1 reviewed p.P425 0.651 42 0% 38 52.6% - - - - - NULL MAGED1 9500 genome.wustl.edu 37 X 51640086 51640086 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001005333.1 +1 reviewed p.S501 0.942 50 0% 46 17.4% - - - - - NULL KDM5C 8242 genome.wustl.edu 37 X 53247533 53247533 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004187.3 -1 reviewed p.F92L 1.000 225 0% 186 36.6% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_ARID,HMMSmart_SM00501,superfamily_ARID-like KDM5C 8242 genome.wustl.edu 37 X 53254008 53254008 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004187.3 -1 reviewed p.A22T 1.000 39 0% 73 49.3% - - benign(0.137) deleterious(0.01) neutral(0.417) HMMPfam_JmjN,HMMSmart_SM00545 IQSEC2 23096 genome.wustl.edu 37 X 53263916 53263916 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001111125.1 -1 validated p.P1318S 0.933 16 0% 40 42.5% - - unknown(0) deleterious(0) - NULL IQSEC2 23096 genome.wustl.edu 37 X 53265631 53265631 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001111125.1 -1 validated p.Q1108 1.000 38 0% 79 41.8% - - - - - NULL SMC1A 8243 genome.wustl.edu 37 X 53432432 53432432 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006306.2 -1 reviewed p.R635H 1.000 56 0% 42 52.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SMC_N,superfamily_SMC_hinge,superfamily_SSF52540 SMC1A 8243 genome.wustl.edu 37 X 53438951 53438951 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006306.2 -1 reviewed p.E369D 1.000 200 0% 172 31.4% - - benign(0.017) tolerated(0.47) neutral(0.011) HMMPfam_SMC_N,superfamily_SSF52540 HUWE1 10075 genome.wustl.edu 37 X 53564636 53564636 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031407.4 -1 reviewed p.E4006D 0.993 131 0% 95 32.6% - - unknown(0) tolerated(0.24) - NULL HUWE1 10075 genome.wustl.edu 37 X 53576425 53576425 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031407.4 -1 reviewed p.G3177E 1.000 51 0% 40 37.5% - - probably_damaging(0.998) tolerated(0.24) deleterious(0.512) NULL HUWE1 10075 genome.wustl.edu 37 X 53588799 53588799 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000427052 -1 known p.R1509C 1.000 169 0% 74 44.6% - - - - - NULL HUWE1 10075 genome.wustl.edu 37 X 53595723 53595723 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000427052 -1 known p.H1246N 1.000 208 0% 120 43.3% - - - - - superfamily_ARM repeat HUWE1 10075 genome.wustl.edu 37 X 53610792 53610792 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031407.4 -1 reviewed p.G1749V 1.000 94 0% 110 36.4% - - possibly_damaging(0.946) deleterious(0.01) deleterious(0.796) superfamily_ARM repeat HUWE1 10075 genome.wustl.edu 37 X 53675182 53675182 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031407.4 -1 reviewed p.Q39 1.000 220 0% 75 33.3% - - - - - NULL PHF8 23133 genome.wustl.edu 37 X 53965596 53965596 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_015107.2 -1 reviewed p.L1024M 0.999 204 0% 143 35.7% - - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL PHF8 23133 genome.wustl.edu 37 X 54012214 54012214 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000322659 -1 known p.Y681C 0.000 150 0% 102 38.2% - - benign(0.01) tolerated(0.1) neutral(0.287) NULL PHF8 23133 genome.wustl.edu 37 X 54028589 54028589 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000448003 -1 known p.A61V 1.000 151 0% 75 42.7% - - - - - NULL FAM120C 54954 genome.wustl.edu 37 X 54117829 54117829 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017848.4 -1 validated p.I781 1.000 108 0% 69 40.6% - - - - - NULL FAM120C 54954 genome.wustl.edu 37 X 54143202 54143202 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017848.4 -1 validated p.W696* 1.000 107 0% 80 33.8% - - - - - NULL WNK3 65267 genome.wustl.edu 37 X 54360023 54360023 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020922.4 -1 reviewed p.Q28 0.000 70 0% 33 45.5% - - - - - NULL GNL3L 54552 genome.wustl.edu 37 X 54570679 54570679 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_019067.5 +1 reviewed p.E184K 1.000 179 0% 123 42.3% - - benign(0.097) deleterious(0.04) neutral(0.356) superfamily_SSF52540 TRO 7216 genome.wustl.edu 37 X 54948708 54948708 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001039705.1 +1 reviewed p.R10K 0.001 263 0% 152 25.7% - - benign(0) deleterious(0) neutral(0.445) NULL TRO 7216 genome.wustl.edu 37 X 54951445 54951445 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001039705.1 +1 reviewed p.E477* 1.000 172 0% 102 39.2% - - - - - HMMPfam_MAGE TRO 7216 genome.wustl.edu 37 X 54954151 54954151 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001039705.1 +1 reviewed p.F605L 1.000 87 0% 59 25.4% - - probably_damaging(0.993) deleterious(0.04) deleterious(0.799) HMMPfam_MAGE TRO 7216 genome.wustl.edu 37 X 54956553 54956553 + Silent SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001039705.1 +1 reviewed p.A1132 0.000 60 0% 49 28.6% - - - - - NULL TRO 7216 genome.wustl.edu 37 X 54956895 54956895 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001039705.1 +1 reviewed p.S1246 0.000 146 0% 112 37.5% - - - - - NULL TRO 7216 genome.wustl.edu 37 X 54957093 54957093 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001039705.1 +1 reviewed p.G1312 0.000 161 0% 118 18.6% - - - - - NULL ALAS2 212 genome.wustl.edu 37 X 55042158 55042158 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000032.4 -1 reviewed p.E341K 1.000 66 0% 41 39% - - benign(0.17) tolerated(0.16) neutral(0.075) HMMPfam_Aminotran_1_2,superfamily_PLP-dependent transferases RRAGB 10325 genome.wustl.edu 37 X 55757952 55757952 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016656.3 +1 validated p.S178Y 1.000 69 0% 29 37.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Gtr1_RagA,superfamily_P-loop containing nucleoside triphosphate hydrolases KLF8 11279 genome.wustl.edu 37 X 56276666 56276666 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007250.4 +1 reviewed p.M4V 0.998 166 0% 64 31.2% - - benign(0.016) deleterious(0) neutral(0.445) NULL KLF8 11279 genome.wustl.edu 37 X 56295849 56295849 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007250.4 +1 reviewed p.P229T 1.000 166 0% 49 28.6% - - benign(0.31) tolerated(0.18) neutral(0.152) NULL KLF8 11279 genome.wustl.edu 37 X 56310823 56310823 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007250.4 +1 reviewed p.R326C 1.000 48 0% 28 28.6% - - probably_damaging(0.958) deleterious(0) deleterious(0.846) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 UBQLN2 29978 genome.wustl.edu 37 X 56592177 56592177 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013444.3 +1 reviewed p.S624L 0.985 78 0% 79 35.4% - - unknown(0) deleterious(0) - superfamily_UBA-like ZXDA 7789 genome.wustl.edu 37 X 57934964 57934964 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007156.4 -1 reviewed p.I631V 1.000 147 0% 209 29.7% - - benign(0.056) deleterious(0) neutral(0.448) NULL FAM123B 139285 genome.wustl.edu 37 X 63412098 63412098 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152424.3 -1 reviewed p.K357E 1.000 259 0% 173 32.9% - - probably_damaging(0.99) tolerated(0.09) deleterious(0.738) HMMPfam_WTX FAM123B 139285 genome.wustl.edu 37 X 63413148 63413148 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152424.3 -1 reviewed p.E7* 1.000 174 0% 134 11.2% - - - - - NULL MSN 4478 genome.wustl.edu 37 X 64959669 64959669 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002444.2 +1 reviewed p.R550* 1.000 66 0% 33 54.5% - - - - - superfamily_Moesin,HMMPfam_ERM LOC100288788 100288788 genome.wustl.edu 37 X 65176759 65176759 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002343822.1 -1 model p.R94C 1.000 154 0% 65 33.8% - - - - - superfamily_RNA-binding domain RBD HEPH 9843 genome.wustl.edu 37 X 65479981 65479981 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138737.3 +1 reviewed p.P1029T 1.000 99 0% 25 48% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Cupredoxins,HMMPfam_Cu-oxidase_2 AR 367 genome.wustl.edu 37 X 66931246 66931246 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000044.2 +1 reviewed p.R630W 1.000 54 0% 30 46.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C4,superfamily_Glucocorticoid receptor-like (DNA-binding domain) OPHN1 4983 genome.wustl.edu 37 X 67273628 67273628 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002547.2 -1 reviewed p.V728A 0.999 81 0% 31 22.6% - - benign(0.001) tolerated(0.16) neutral(0.059) NULL OPHN1 4983 genome.wustl.edu 37 X 67283780 67283780 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002547.2 -1 reviewed p.P692S 0.973 103 0% 32 31.2% - - benign(0.011) tolerated(0.36) neutral(0.021) NULL OPHN1 4983 genome.wustl.edu 37 X 67421526 67421526 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002547.2 -1 reviewed p.Y320 1.000 157 0% 30 36.7% - - - - - HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 STARD8 9754 genome.wustl.edu 37 X 67943669 67943669 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001142503.2 +1 reviewed p.D1001N 0.965 66 0% 99 30.3% - - possibly_damaging(0.854) tolerated(0.09) deleterious(0.625) HMMPfam_START,HMMSmart_SM00234,superfamily_Bet v1-like EDA 1896 genome.wustl.edu 37 X 69247830 69247830 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001399.4 +1 reviewed p.P217H 1.000 19 0% 19 26.3% - - unknown(0) deleterious(0) - NULL AWAT2 158835 genome.wustl.edu 37 X 69269733 69269733 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001002254.1 -1 reviewed p.A17D 0.932 73 0% 56 41.1% - - probably_damaging(0.956) deleterious(0.01) deleterious(0.805) NULL ARR3 407 genome.wustl.edu 37 X 69489723 69489723 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004312.2 +1 validated p.V24M 1.000 94 0% 101 40.6% - - benign(0.241) deleterious(0.04) neutral(0.373) HMMPfam_Arrestin_N,superfamily_E set domains KIF4A 24137 genome.wustl.edu 37 X 69561725 69561725 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012310.4 +1 reviewed p.R404C 1.000 144 0% 105 39% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL GDPD2 54857 genome.wustl.edu 37 X 69649346 69649346 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017711.3 +1 reviewed p.R314* 0.064 49 0% 71 40.8% - - - - - HMMPfam_GDPD,superfamily_PLC-like_Pdiesterase_TIM-brl GDPD2 54857 genome.wustl.edu 37 X 69649468 69649468 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017711.3 +1 reviewed p.F354 1.000 95 1.1% 136 41.9% - - - - - HMMPfam_GDPD,superfamily_PLC-like_Pdiesterase_TIM-brl DLG3 1741 genome.wustl.edu 37 X 69673524 69673524 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021120.3 +1 reviewed p.G395S 1.000 136 0% 231 36.8% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like DLG3 1741 genome.wustl.edu 37 X 69719835 69719835 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021120.3 +1 reviewed p.A694V 0.998 105 0% 80 42.5% - - possibly_damaging(0.701) tolerated(0.13) deleterious(0.504) HMMPfam_Guanylate_kin,HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases TEX11 56159 genome.wustl.edu 37 X 70080715 70080715 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001003811.1 -1 reviewed p.L121 0.983 172 0% 93 35.5% - - - - - NULL SNX12 29934 genome.wustl.edu 37 X 70282704 70282704 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013346.2 -1 reviewed p.K87N 1.000 143 0% 185 41.1% - - possibly_damaging(0.716) tolerated(0.05) deleterious(0.605) HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain FOXO4 4303 genome.wustl.edu 37 X 70321173 70321173 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005938.3 +1 reviewed p.A365T 1.000 23 0% 38 39.5% - - benign(0.002) tolerated(0.95) - NULL CXorf65 158830 genome.wustl.edu 37 X 70325979 70325979 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001025265.2 -1 validated p.D41N 0.997 225 0% 187 36.9% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL MED12 9968 genome.wustl.edu 37 X 70349541 70349541 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005120.2 +1 reviewed p.L1235 1.000 92 0% 99 37.4% - - - - - NULL ZMYM3 9203 genome.wustl.edu 37 X 70467267 70467267 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005096.3 -1 reviewed p.L748I 1.000 41 0% 71 38% - - possibly_damaging(0.791) tolerated(0.2) neutral(0.345) HMMPfam_zf-FCS,HMMSmart_SM00746 NONO 4841 genome.wustl.edu 37 X 70511778 70511778 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001145408.1 +1 reviewed p.E102K 1.000 130 0% 98 38.8% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD NONO 4841 genome.wustl.edu 37 X 70516429 70516429 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001145408.1 +1 reviewed p.V222G 1.000 159 0% 119 24.4% - - probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMSmart_SM00360,HMMPfam_NOPS,superfamily_RNA-binding domain RBD TAF1 6872 genome.wustl.edu 37 X 70586288 70586288 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004606.3 +1 reviewed p.L42I 1.000 32 0% 51 45.1% - - possibly_damaging(0.944) deleterious(0) deleterious(0.833) HMMPfam_TBP-binding,superfamily_TAF_II_230 LOC100288033 100288033 genome.wustl.edu 37 X 70887995 70887995 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002343818.1 +1 model p.P114 0.000 36 0% 63 34.9% - - - - - NULL PIN4 5303 genome.wustl.edu 37 X 71406134 71406134 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000373662 +1 known p.L57I 0.001 21 0% 34 32.4% - - unknown(0) - - NULL ERCC6L 54821 genome.wustl.edu 37 X 71427393 71427393 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017669.2 -1 validated p.K408N 1.000 96 0% 33 33.3% - - probably_damaging(0.987) deleterious(0.01) deleterious(0.842) HMMPfam_SNF2_N PHKA1 5255 genome.wustl.edu 37 X 71829490 71829490 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002637.3 -1 reviewed p.E864* 1.000 219 0% 40 35% - - - - - HMMPfam_PHK_AB NAP1L2 4674 genome.wustl.edu 37 X 72433924 72433924 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021963.2 -1 reviewed p.D135 0.944 294 0% 184 21.2% - - - - - HMMPfam_NAP SLC16A2 6567 genome.wustl.edu 37 X 73744267 73744267 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006517.3 +1 reviewed p.L291I 0.993 176 0.6% 113 31.9% - - possibly_damaging(0.729) tolerated(0.22) neutral(0.307) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter RLIM 51132 genome.wustl.edu 37 X 73812743 73812743 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016120.3 -1 reviewed p.R136K 1.000 302 0% 90 27.8% - - probably_damaging(0.973) tolerated(0.1) deleterious(0.702) NULL ABCB7 22 genome.wustl.edu 37 X 74375954 74375954 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004299.3 -1 reviewed p.A52T 0.465 32 0% 41 48.8% - - benign(0.024) tolerated(0.15) neutral(0.242) NULL ZDHHC15 158866 genome.wustl.edu 37 X 74641728 74641728 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_144969.2 -1 reviewed p.K278N 1.000 157 0% 40 30% - - probably_damaging(0.978) tolerated(0.32) neutral(0.445) NULL ATRX 546 genome.wustl.edu 37 X 76814239 76814239 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000489.3 -1 reviewed p.F2135 0.982 113 0% 43 44.2% - - - - - HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases ATRX 546 genome.wustl.edu 37 X 76874347 76874347 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000489.3 -1 reviewed p.S1792Y 1.000 127 0% 55 29.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SNF2_N,superfamily_P-loop containing nucleoside triphosphate hydrolases ATRX 546 genome.wustl.edu 37 X 76909646 76909646 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000489.3 -1 reviewed p.K1420T 1.000 320 0% 138 43.5% - - probably_damaging(0.996) tolerated(0.1) deleterious(0.748) NULL ATRX 546 genome.wustl.edu 37 X 76937874 76937874 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000489.3 -1 reviewed p.Q958H 0.000 107 0% 49 18.4% - - benign(0.229) tolerated(0.12) neutral(0.284) NULL ATRX 546 genome.wustl.edu 37 X 76938995 76938995 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000489.3 -1 reviewed p.E585* 1.000 101 0% 30 36.7% - - - - - NULL ATRX 546 genome.wustl.edu 37 X 76939653 76939653 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000489.3 -1 reviewed p.N365K 1.000 163 0% 59 20.3% - - benign(0.082) tolerated(0.26) neutral(0.040) NULL ATRX 546 genome.wustl.edu 37 X 76953080 76953080 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000489.3 -1 reviewed p.R78Q 1.000 234 0% 98 35.7% - - probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL MAGT1 84061 genome.wustl.edu 37 X 77150822 77150822 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032121.5 -1 reviewed p.A61V 1.000 60 0% 67 11.9% - - benign(0.003) tolerated(0.09) neutral(0.296) HMMPfam_OST3_OST6 COX7B 1349 genome.wustl.edu 37 X 77158173 77158173 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001866.2 +1 reviewed p.S25I 0.994 300 0% 244 39.3% - - benign(0.005) tolerated(0.48) neutral(0.011) HMMPfam_COX7B PGAM4 441531 genome.wustl.edu 37 X 77224878 77224878 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001029891.2 -1 reviewed p.R86 0.996 104 0% 96 27.1% - - - - - HMMPfam_PGAM,superfamily_SSF53254 CYSLTR1 10800 genome.wustl.edu 37 X 77528341 77528341 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006639.2 -1 reviewed p.N301 1.000 96 0% 30 36.7% - - - - - superfamily_Family A G protein-coupled receptor-like P2RY10 27334 genome.wustl.edu 37 X 78217025 78217025 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014499.2 +1 reviewed p.S336 0.989 115 0% 28 25% - - - - - NULL GPR174 84636 genome.wustl.edu 37 X 78426848 78426848 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032553.1 +1 validated p.R115Q 0.967 223 0% 51 37.3% - - benign(0.268) tolerated(0.95) neutral(0.029) HMMPfam_7tm_1,superfamily_SSF81321 ITM2A 9452 genome.wustl.edu 37 X 78622682 78622682 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004867.4 -1 reviewed p.A11T 0.992 36 0% 25 32% - - probably_damaging(0.988) deleterious(0.01) deleterious(0.843) NULL FAM46D 169966 genome.wustl.edu 37 X 79699070 79699070 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152630.4 +1 validated p.K344 0.980 103 0% 26 30.8% - - - - - NULL BRWD3 254065 genome.wustl.edu 37 X 79938047 79938047 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153252.4 -1 reviewed p.I1438 1.000 364 0% 57 29.8% - - - - - superfamily_Bromodomain BRWD3 254065 genome.wustl.edu 37 X 79948476 79948476 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153252.4 -1 reviewed p.E1076K 1.000 155 0% 67 38.8% - - possibly_damaging(0.919) tolerated(0.06) deleterious(0.692) NULL BRWD3 254065 genome.wustl.edu 37 X 79978265 79978265 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153252.4 -1 reviewed p.H558Y 1.000 128 0% 55 25.5% - - probably_damaging(0.999) tolerated(0.06) deleterious(0.813) superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase CYLC1 1538 genome.wustl.edu 37 X 83126508 83126508 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021118.1 +1 provisional p.T36I 1.000 122 0% 33 18.2% - - benign(0.018) tolerated(0.18) neutral(0.057) NULL CYLC1 1538 genome.wustl.edu 37 X 83128296 83128296 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021118.1 +1 provisional p.N194H 0.000 44 0% 14 35.7% - - unknown(0) tolerated(0.55) - NULL SATL1 340562 genome.wustl.edu 37 X 84349940 84349940 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001012980.2 -1 validated p.D399N 0.000 246 0% 184 33.7% - - benign(0.004) tolerated(0.17) neutral(0.059) superfamily_Acyl_CoA_acyltransferase ZNF711 7552 genome.wustl.edu 37 X 84526520 84526520 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021998.4 +1 reviewed p.D658N 1.000 114 0.9% 18 38.9% - - probably_damaging(0.995) deleterious(0.04) deleterious(0.806) HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF711 7552 genome.wustl.edu 37 X 84526669 84526669 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021998.4 +1 reviewed p.E707D 1.000 121 0% 31 41.9% - - benign(0.057) tolerated(0.06) neutral(0.326) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF711 7552 genome.wustl.edu 37 X 84526781 84526781 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021998.4 +1 reviewed p.P745S 1.000 48 0% 18 44.4% - - probably_damaging(0.995) tolerated(0.14) deleterious(0.707) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers POF1B 79983 genome.wustl.edu 37 X 84570733 84570733 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024921.3 -1 reviewed p.D288N 0.651 133 0% 27 48.1% - - probably_damaging(0.979) tolerated(0.13) deleterious(0.674) NULL POF1B 79983 genome.wustl.edu 37 X 84600944 84600944 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024921.3 -1 reviewed p.A215 0.097 330 0% 54 44.4% - - - - - NULL CHM 1121 genome.wustl.edu 37 X 85233856 85233856 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000390.2 -1 reviewed p.D77Y 0.991 203 0% 180 33.9% - - benign(0) deleterious(0.02) neutral(0.383) HMMPfam_GDI,superfamily_SSF51905 PABPC5 140886 genome.wustl.edu 37 X 90691190 90691190 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_080832.2 +1 reviewed p.N205S 1.000 61 0% 77 45.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RRM_1,HMMSmart_SM00360,HMMSmart_SM00361,superfamily_RNA-binding domain RBD PCDH11X 27328 genome.wustl.edu 37 X 91133876 91133876 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032968.3 +1 reviewed p.K879N 0.991 182 0% 114 36% - - possibly_damaging(0.492) deleterious(0) deleterious(0.609) HMMPfam_Protocadherin PCDH19 57526 genome.wustl.edu 37 X 99605689 99605689 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001105243.1 -1 reviewed p.S830Y 1.000 138 0% 55 25.5% - - possibly_damaging(0.508) tolerated(0.11) neutral(0.442) NULL PCDH19 57526 genome.wustl.edu 37 X 99662491 99662491 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001105243.1 -1 reviewed p.A369T 1.000 45 0% 89 23.6% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Cadherin,superfamily_Cadherin TNMD 64102 genome.wustl.edu 37 X 99852617 99852617 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022144.2 +1 reviewed p.N180 0.998 84 0% 52 36.5% - - - - - HMMPfam_BRICHOS SYTL4 94121 genome.wustl.edu 37 X 99945153 99945153 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001129896.2 -1 reviewed p.P243S 0.000 213 0% 68 32.4% - - benign(0) tolerated(0.51) neutral(0.009) NULL NOX1 27035 genome.wustl.edu 37 X 100125755 100125755 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007052.4 -1 reviewed p.K32Q 0.000 218 0% 143 11.2% - - benign(0.002) tolerated(0.3) neutral(0.029) NULL TRMT2B 79979 genome.wustl.edu 37 X 100275578 100275578 + Splice_Site SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024917.5 -1 reviewed e9-1 0.956 184 0% 91 34.1% - - - - - - TRMT2B 79979 genome.wustl.edu 37 X 100292926 100292926 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024917.5 -1 reviewed p.L140I 1.000 149 0% 107 31.8% - - possibly_damaging(0.941) deleterious(0.03) deleterious(0.751) superfamily_S-adenosyl-L-methionine-dependent methyltransferases CENPI 2491 genome.wustl.edu 37 X 100401160 100401160 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006733.2 +1 reviewed p.N574H 0.975 266 0.4% 121 35.5% - - benign(0.186) tolerated(0.12) neutral(0.278) NULL DRP2 1821 genome.wustl.edu 37 X 100503523 100503523 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001939.2 +1 reviewed p.R492Q 1.000 194 0% 93 37.6% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_efhand_1,superfamily_SSF47473 GLA 2717 genome.wustl.edu 37 X 100658904 100658904 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000169.2 -1 reviewed p.Y88 1.000 125 0% 85 35.3% - - - - - HMMPfam_Melibiase,PatternScan_ALPHA_GALACTOSIDASE,superfamily_(Trans)glycosidases GLA 2717 genome.wustl.edu 37 X 100662714 100662714 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000169.2 -1 reviewed p.P60S 1.000 77 0% 59 28.8% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_(Trans)glycosidases HNRNPH2 3188 genome.wustl.edu 37 X 100667031 100667031 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001032393.1 +1 reviewed p.P19S 1.000 156 0% 139 16.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD HNRNPH2 3188 genome.wustl.edu 37 X 100667572 100667572 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001032393.1 +1 reviewed p.R199Q 1.000 133 0% 128 42.2% - - probably_damaging(0.97) tolerated(0.12) deleterious(0.673) superfamily_RNA-binding domain RBD HNRNPH2 3188 genome.wustl.edu 37 X 100667946 100667946 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001032393.1 +1 reviewed p.D324N 0.994 104 0% 76 38.2% - - benign(0.012) tolerated(0.17) neutral(0.059) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD ARMCX1 51309 genome.wustl.edu 37 X 100807973 100807973 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016608.1 +1 reviewed p.A20 0.998 134 0% 181 40.3% - - - - - NULL ARMCX2 9823 genome.wustl.edu 37 X 100910920 100910920 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014782.5 -1 reviewed p.A552V 0.999 57 0% 54 42.6% - - benign(0.025) deleterious(0.02) neutral(0.384) HMMPfam_DUF634,superfamily_ARM-type_fold ZMAT1 84460 genome.wustl.edu 37 X 101138957 101138957 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001011657.2 -1 reviewed p.S481Y 0.013 276 0% 57 35.1% - - possibly_damaging(0.805) deleterious(0) deleterious(0.748) NULL ZMAT1 84460 genome.wustl.edu 37 X 101139667 101139667 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001011657.2 -1 reviewed p.K244N 0.565 318 0% 90 37.8% - - benign(0.323) deleterious(0.02) deleterious(0.484) NULL ARMCX5 64860 genome.wustl.edu 37 X 101857239 101857239 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022838.3 +1 validated p.G57E 0.177 115 0% 59 76.3% - - benign(0.004) tolerated(0.91) - NULL ARMCX5 64860 genome.wustl.edu 37 X 101857324 101857324 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022838.3 +1 validated p.K85 0.007 138 0% 45 37.8% - - - - - NULL ARMCX5 64860 genome.wustl.edu 37 X 101857867 101857867 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022838.3 +1 validated p.K266 1.000 108 0% 35 34.3% - - - - - NULL GPRASP1 9737 genome.wustl.edu 37 X 101909218 101909218 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001099410.1 +1 reviewed p.S126Y 0.010 96 0% 117 38.5% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL GPRASP2 114928 genome.wustl.edu 37 X 101969867 101969867 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001004051.2 +1 reviewed p.A24T 0.000 136 0% 191 37.2% - - benign(0.003) tolerated(0.11) neutral(0.272) NULL BHLHB9 80823 genome.wustl.edu 37 X 102005157 102005157 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001142524.1 +1 validated p.T412A 0.911 113 0% 111 40.5% - - possibly_damaging(0.653) tolerated(0.06) deleterious(0.552) HMMPfam_DUF634,superfamily_ARM-type_fold RAB40AL 282808 genome.wustl.edu 37 X 102192998 102192998 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001031834.1 +1 reviewed p.R251M 0.999 260 0% 310 39.4% - - probably_damaging(0.986) deleterious(0.02) deleterious(0.818) NULL BEX1 55859 genome.wustl.edu 37 X 102317848 102317848 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018476.3 -1 validated p.D119Y 0.972 218 0% 285 39.6% - - probably_damaging(0.99) tolerated(0.15) deleterious(0.682) HMMPfam_BEX NXF3 56000 genome.wustl.edu 37 X 102337969 102337969 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000427570 -1 known p.G95R 0.002 230 0% 187 32.6% - - - - - NULL BEX2 84707 genome.wustl.edu 37 X 102564854 102564854 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032621.3 -1 reviewed p.V17 0.000 98 0% 137 38% - - - - - HMMPfam_BEX TCEAL7 56849 genome.wustl.edu 37 X 102586483 102586483 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152278.2 +1 provisional p.D51G 1.000 78 0% 126 34.1% - - benign(0.355) deleterious(0) deleterious(0.557) HMMPfam_TFA TCEAL3 85012 genome.wustl.edu 37 X 102864315 102864315 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001006933.1 +1 reviewed p.R108Q 0.997 428 0% 589 32.8% - - probably_damaging(0.957) deleterious(0.03) deleterious(0.765) HMMPfam_TFA RAB9B 51209 genome.wustl.edu 37 X 103080466 103080466 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016370.2 -1 reviewed p.C83 1.000 103 0% 77 37.7% - - - - - HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 RAB9B 51209 genome.wustl.edu 37 X 103080520 103080520 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016370.2 -1 reviewed p.G65 0.938 108 0% 78 25.6% - - - - - HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 ZCCHC18 644353 genome.wustl.edu 37 X 103359337 103359337 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001143978.1 +1 provisional p.L179I 0.280 68 0% 100 27% - - - - - NULL FAM199X 139231 genome.wustl.edu 37 X 103434355 103434355 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_207318.2 +1 validated p.Q355* 1.000 92 0% 37 32.4% - - - - - NULL LOC644504 644504 genome.wustl.edu 37 X 105570813 105570813 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_001128075.2 +1 model p.R64Q 1.000 100 0% 45 37.8% - - - - - HMMPfam_CHGN,superfamily_Nucleotide-diphospho-sugar transferases CXorf57 55086 genome.wustl.edu 37 X 105912552 105912552 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_018015.5 +1 validated p.A810V 0.000 94 0% 41 46.3% - - benign(0.002) tolerated(0.08) neutral(0.300) NULL TBC1D8B 54885 genome.wustl.edu 37 X 106096754 106096754 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017752.2 +1 validated p.F709L 1.000 177 0% 48 37.5% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Ypt/Rab-GAP domain of gyp1p RIPPLY1 92129 genome.wustl.edu 37 X 106144746 106144746 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138382.2 -1 validated p.A85D 0.521 83 0% 37 43.2% - - probably_damaging(0.998) tolerated(0.64) deleterious(0.477) NULL TSC22D3 1831 genome.wustl.edu 37 X 106957811 106957811 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_198057.2 -1 reviewed p.P181T 1.000 100 0% 135 41.5% - - benign(0.002) deleterious(0.04) neutral(0.349) HMMPfam_TSC22 ATG4A 115201 genome.wustl.edu 37 X 107381218 107381218 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000394892 +1 known p.S217* 1.000 146 0% 43 30.2% - - benign(0) tolerated(1) - HMMPfam_Peptidase_C54 COL4A6 1288 genome.wustl.edu 37 X 107418319 107418319 + Splice_Site SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001847.2 -1 reviewed e30+1 1.000 73 0% 41 39% - - - - - - COL4A6 1288 genome.wustl.edu 37 X 107422482 107422482 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001847.2 -1 reviewed p.G774E 1.000 116 0% 61 36.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Collagen COL4A6 1288 genome.wustl.edu 37 X 107431153 107431153 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001847.2 -1 reviewed p.S565 0.100 76 0% 23 34.8% - - - - - HMMPfam_Collagen COL4A6 1288 genome.wustl.edu 37 X 107554053 107554053 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001847.2 -1 reviewed p.E24D 0.994 92 0% 33 36.4% - - unknown(0) tolerated(0.5) - NULL COL4A5 1287 genome.wustl.edu 37 X 107911614 107911614 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_033380.1 +1 reviewed p.E1224K 1.000 41 0% 19 31.6% - - unknown(0) tolerated(0.59) - HMMPfam_Collagen IRS4 8471 genome.wustl.edu 37 X 107978587 107978587 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003604.2 -1 reviewed p.A330T 1.000 60 0% 107 29% - - unknown(0) deleterious(0.02) - HMMPfam_IRS,HMMSmart_PTBI,superfamily_SSF50729 GUCY2F 2986 genome.wustl.edu 37 X 108619185 108619185 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001522.2 -1 reviewed p.E1090D 1.000 171 0% 39 35.9% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL GUCY2F 2986 genome.wustl.edu 37 X 108673541 108673541 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001522.2 -1 reviewed p.E596K 1.000 136 0.7% 99 33.3% - - benign(0.221) tolerated(0.92) neutral(0.022) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) GUCY2F 2986 genome.wustl.edu 37 X 108691389 108691389 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001522.2 -1 reviewed p.R493H 0.314 206 0% 76 43.4% - - probably_damaging(0.998) tolerated(0.05) deleterious(0.820) NULL RGAG1 57529 genome.wustl.edu 37 X 109696387 109696387 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_020769.2 +1 validated p.P848S 0.001 79 0% 51 23.5% - - benign(0.316) tolerated(0.32) neutral(0.123) NULL CHRDL1 91851 genome.wustl.edu 37 X 109924735 109924735 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001143981.1 -1 reviewed p.E377D 1.000 188 0% 62 37.1% - - benign(0.008) tolerated(0.09) neutral(0.296) NULL CHRDL1 91851 genome.wustl.edu 37 X 109937558 109937558 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001143981.1 -1 reviewed p.R204K 1.000 88 0% 47 40.4% - - possibly_damaging(0.942) tolerated(0.57) neutral(0.393) NULL CHRDL1 91851 genome.wustl.edu 37 X 110035352 110035352 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001143981.1 -1 reviewed p.L20I 1.000 170 0% 136 34.6% - - benign(0.011) tolerated(0.5) neutral(0.011) NULL CAPN6 827 genome.wustl.edu 37 X 110495646 110495646 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014289.3 -1 reviewed p.T196 0.244 112 0% 67 37.3% - - - - - HMMPfam_Peptidase_C2,HMMSmart_CysPc,superfamily_SSF54001 TRPC5 7224 genome.wustl.edu 37 X 111078262 111078262 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012471.2 -1 reviewed p.E595K 1.000 200 0.5% 55 29.1% - - benign(0.023) tolerated(0.69) neutral(0.003) HMMPfam_Ion_trans TRPC5 7224 genome.wustl.edu 37 X 111090543 111090543 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012471.2 -1 reviewed p.N500T 1.000 166 0% 65 29.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,PatternScan_RIBOSOMAL_S2_1 TRPC5 7224 genome.wustl.edu 37 X 111095542 111095542 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012471.2 -1 reviewed p.I454T 1.000 160 0% 74 43.2% - - possibly_damaging(0.813) deleterious(0.03) deleterious(0.671) HMMPfam_Ion_trans TRPC5 7224 genome.wustl.edu 37 X 111195593 111195593 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012471.2 -1 reviewed p.P19L 1.000 95 0% 22 40.9% - - probably_damaging(1) tolerated(0.09) deleterious(0.796) superfamily_Ankyrin repeat AMOT 154796 genome.wustl.edu 37 X 112025791 112025791 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001113490.1 -1 reviewed p.K739 0.994 271 0% 160 13.8% - - - - - NULL AMOT 154796 genome.wustl.edu 37 X 112034010 112034010 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001113490.1 -1 reviewed p.R643C 1.000 153 0% 49 36.7% - - probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL AMOT 154796 genome.wustl.edu 37 X 112065611 112065611 + Silent SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001113490.1 -1 reviewed p.P248 0.995 199 0.5% 89 41.6% - - - - - NULL LOC286528 286528 genome.wustl.edu 37 X 113625455 113625455 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_210501.3 +1 model p.T110N 1.000 80 0% 42 11.9% - - - - - HMMPfam_Ssu72 LOC286528 286528 genome.wustl.edu 37 X 113625582 113625582 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_210501.3 +1 model p.A152 0.867 50 0% 21 42.9% - - - - - HMMPfam_Ssu72 RBMXL3 139804 genome.wustl.edu 37 X 114426926 114426926 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001145346.1 +1 validated p.S974 0.033 39 0% 65 30.8% - - - - - NULL LUZP4 51213 genome.wustl.edu 37 X 114540909 114540909 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016383.3 +1 validated p.R161Q 0.001 134 0% 94 30.9% - - benign(0.019) tolerated(0.23) neutral(0.043) NULL PLS3 5358 genome.wustl.edu 37 X 114863548 114863548 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001136025.3 +1 reviewed p.T92 0.983 161 0% 82 35.4% - - - - - superfamily_EF-hand WDR44 54521 genome.wustl.edu 37 X 117528037 117528037 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000371848 +1 known p.V182I 0.028 137 0% 64 37.5% - - - - - superfamily_WD40 repeat-like LONRF3 79836 genome.wustl.edu 37 X 118145885 118145885 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001031855.1 +1 reviewed p.I587S 1.000 291 0% 147 41.5% - - possibly_damaging(0.808) deleterious(0) deleterious(0.748) HMMPfam_LON,HMMSmart_SM00464 CXorf56 63932 genome.wustl.edu 37 X 118675327 118675327 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_022101.3 -1 validated p.E190 1.000 116 0% 87 26.4% - - - - - NULL UPF3B 65109 genome.wustl.edu 37 X 118968882 118968882 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_080632.1 -1 reviewed p.E471K 1.000 426 0% 241 36.9% - - possibly_damaging(0.902) tolerated(0.1) deleterious(0.643) NULL RNF113A 7737 genome.wustl.edu 37 X 119004652 119004652 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006978.2 -1 reviewed p.P309S 1.000 74 0% 114 33.3% - - possibly_damaging(0.879) deleterious(0.02) deleterious(0.726) NULL RHOXF2 84528 genome.wustl.edu 37 X 119293258 119293258 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_032498.1 +1 provisional p.H139 0.000 53 0% 95 13.7% - - - - - HMMSmart_HOX,superfamily_Homeodomain_like ZBTB33 10009 genome.wustl.edu 37 X 119388192 119388192 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006777.3 +1 reviewed p.L308V 0.972 142 0.7% 129 47.3% - - benign(0) tolerated(0.71) neutral(0.002) NULL ZBTB33 10009 genome.wustl.edu 37 X 119389073 119389073 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006777.3 +1 reviewed p.S601 0.996 182 0% 176 34.1% - - - - - NULL ATP1B4 23439 genome.wustl.edu 37 X 119509334 119509334 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001142447.2 +1 reviewed p.R224C 1.000 161 0% 40 30% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Na_K-ATPase,PatternScan_ATPASE_NA_K_BETA_2 LAMP2 3920 genome.wustl.edu 37 X 119573112 119573112 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013995.2 -1 reviewed p.I377T 1.000 150 0% 34 38.2% - - benign(0.24) deleterious(0) deleterious(0.469) HMMPfam_Lamp CUL4B 8450 genome.wustl.edu 37 X 119678399 119678399 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003588.3 -1 reviewed p.R358 0.522 141 0% 27 37% - - - - - HMMPfam_Cullin,superfamily_Cullin repeat CUL4B 8450 genome.wustl.edu 37 X 119691870 119691870 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003588.3 -1 reviewed p.Y212C 1.000 478 0% 417 35.7% - - probably_damaging(0.993) deleterious(0) deleterious(0.895) NULL MCTS1 28985 genome.wustl.edu 37 X 119742118 119742118 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001137554.1 +1 validated p.A102T 1.000 113 0% 55 50.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PUA,HMMSmart_PUA,superfamily_PUA-like GRIA3 2892 genome.wustl.edu 37 X 122488769 122488769 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000828.4 +1 reviewed p.S235F 1.000 281 0% 71 40.8% - - - - - NULL GRIA3 2892 genome.wustl.edu 37 X 122536913 122536913 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000828.4 +1 reviewed p.S383L 0.159 154 0% 35 45.7% - - - - - NULL STAG2 10735 genome.wustl.edu 37 X 123184041 123184041 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001042749.1 +1 validated p.A300V 1.000 342 0% 113 43.4% - - benign(0.001) tolerated(0.97) - superfamily_ARM-type_fold STAG2 10735 genome.wustl.edu 37 X 123205073 123205073 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001042749.1 +1 validated p.E811 0.991 305 0% 74 29.7% - - - - - superfamily_ARM-type_fold SH2D1A 4068 genome.wustl.edu 37 X 123499661 123499661 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002351.4 +1 reviewed p.S63Y 1.000 402 0% 108 37% - - probably_damaging(1) tolerated(1) deleterious(0.500) HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain ODZ1 10178 genome.wustl.edu 37 X 123518248 123518248 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014253.3 -1 reviewed p.R2171H 1.000 176 0% 40 32.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RHS_repeat ODZ1 10178 genome.wustl.edu 37 X 123556485 123556485 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014253.3 -1 reviewed p.R1363* 1.000 99 0% 26 30.8% - - - - - superfamily_SSF101898 ODZ1 10178 genome.wustl.edu 37 X 123787437 123787437 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_014253.3 -1 reviewed p.T455 0.926 157 0% 50 30% - - - - - NULL DCAF12L1 139170 genome.wustl.edu 37 X 125686189 125686189 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178470.4 -1 reviewed p.L135F 0.002 63 0% 120 41.7% - - probably_damaging(1) tolerated(0.11) deleterious(0.772) superfamily_WD40_like DCAF12L1 139170 genome.wustl.edu 37 X 125686554 125686554 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_178470.4 -1 reviewed p.A13V 0.001 10 0% 12 66.7% - - possibly_damaging(0.902) deleterious(0.02) deleterious(0.740) NULL ACTRT1 139741 genome.wustl.edu 37 X 127185241 127185241 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138289.3 -1 reviewed p.M315I 1.000 86 0% 35 34.3% - - benign(0.052) tolerated(0.09) neutral(0.299) HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067 ACTRT1 139741 genome.wustl.edu 37 X 127185682 127185682 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138289.3 -1 reviewed p.I168 0.988 87 0% 27 25.9% - - - - - HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067 SMARCA1 6594 genome.wustl.edu 37 X 128599531 128599531 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003069.3 -1 reviewed p.R999I 1.000 224 0% 56 28.6% - - probably_damaging(0.989) deleterious(0.01) deleterious(0.845) HMMSmart_SM00717,superfamily_Homeodomain-like,HMMPfam_SLIDE SMARCA1 6594 genome.wustl.edu 37 X 128621065 128621065 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003069.3 -1 reviewed p.R716I 1.000 137 0% 43 39.5% - - probably_damaging(0.991) deleterious(0) deleterious(0.889) superfamily_P-loop containing nucleoside triphosphate hydrolases SMARCA1 6594 genome.wustl.edu 37 X 128642055 128642055 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003069.3 -1 reviewed p.E277* 1.000 47 0% 42 11.9% - - - - - HMMPfam_SNF2_N,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases OCRL 4952 genome.wustl.edu 37 X 128678947 128678947 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000276.3 +1 reviewed p.Q44 0.998 461 0% 447 32% - - - - - NULL XPNPEP2 7512 genome.wustl.edu 37 X 128886249 128886249 + Nonsense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003399.5 +1 reviewed p.Y315* 0.000 151 0% 142 40.1% - - - - - NULL ZDHHC9 51114 genome.wustl.edu 37 X 128975840 128975840 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001008222.2 -1 reviewed p.R28C 1.000 131 0% 194 39.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL UTP14A 10813 genome.wustl.edu 37 X 129041357 129041357 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006649.3 +1 reviewed p.S14N 0.997 128 0% 114 40.4% - - possibly_damaging(0.454) tolerated(0.16) neutral(0.208) NULL UTP14A 10813 genome.wustl.edu 37 X 129054655 129054655 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006649.3 +1 reviewed p.R294I 1.000 171 0% 131 32.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Utp14 UTP14A 10813 genome.wustl.edu 37 X 129055452 129055452 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_006649.3 +1 reviewed p.P413S 0.001 148 0% 119 33.6% - - possibly_damaging(0.609) tolerated(0.24) neutral(0.248) HMMPfam_Utp14 BCORL1 63035 genome.wustl.edu 37 X 129147377 129147377 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021946.3 +1 reviewed p.S210L 0.476 183 0% 218 38.5% - - unknown(0) deleterious(0.03) - NULL ELF4 2000 genome.wustl.edu 37 X 129206263 129206263 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001127197.1 -1 reviewed p.S157F 0.006 288 0% 392 37.2% - - possibly_damaging(0.751) tolerated(0.19) neutral(0.325) NULL ELF4 2000 genome.wustl.edu 37 X 129208721 129208721 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001127197.1 -1 reviewed p.D28Y 1.000 68 0% 77 40.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL AIFM1 9131 genome.wustl.edu 37 X 129271120 129271120 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004208.3 -1 reviewed p.E336D 1.000 213 0% 106 35.8% - - possibly_damaging(0.939) deleterious(0.01) deleterious(0.790) HMMPfam_Pyr_redox_2,superfamily_FAD/NAD(P)-binding domain SLC25A14 9016 genome.wustl.edu 37 X 129492699 129492699 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003951.2 +1 reviewed p.G195D 1.000 139 0% 54 37% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Mitochondrial carrier,HMMPfam_Mito_carr RBMX2 51634 genome.wustl.edu 37 X 129543251 129543251 + Missense_Mutation SNP T T C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016024.2 +1 validated p.I65T 1.000 76 0% 62 37.1% - - probably_damaging(0.975) deleterious(0) deleterious(0.861) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD OR13H1 347468 genome.wustl.edu 37 X 130678084 130678084 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001004486.1 +1 provisional p.L13F 0.946 210 0% 76 39.5% - - possibly_damaging(0.833) tolerated(0.35) neutral(0.338) superfamily_SSF81321 OR13H1 347468 genome.wustl.edu 37 X 130678104 130678104 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001004486.1 +1 provisional p.N19K 0.858 231 0% 80 11.3% - - possibly_damaging(0.637) tolerated(0.14) deleterious(0.473) superfamily_SSF81321 MST4 51765 genome.wustl.edu 37 X 131188797 131188797 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_016542.3 +1 reviewed p.E61K 1.000 101 0% 25 56% - - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase FRMD7 90167 genome.wustl.edu 37 X 131231359 131231359 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_194277.2 -1 reviewed p.I73M 1.000 108 0% 39 43.6% - - benign(0.082) tolerated(0.11) neutral(0.278) HMMPfam_FERM_N,PatternScan_FERM_1,HMMSmart_B41,superfamily_SSF54236 HS6ST2 90161 genome.wustl.edu 37 X 131803180 131803180 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001077188.1 -1 reviewed p.P343L 1.000 301 0% 80 45% - - possibly_damaging(0.68) tolerated(0.08) deleterious(0.542) HMMPfam_HS6ST GPC3 2719 genome.wustl.edu 37 X 132887753 132887753 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004484.3 -1 reviewed p.S263F 1.000 691 0% 148 32.4% - - probably_damaging(0.99) deleterious(0.02) deleterious(0.825) HMMPfam_Glypican,PatternScan_GLYPICAN GPC3 2719 genome.wustl.edu 37 X 133119461 133119461 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004484.3 -1 reviewed p.R6C 0.992 13 0% 26 50% - - benign(0.001) deleterious(0.03) neutral(0.364) NULL CCDC160 347475 genome.wustl.edu 37 X 133379653 133379653 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001101357.1 +1 provisional p.R275C 0.006 47 0% 50 40% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL ZNF75D 7626 genome.wustl.edu 37 X 134426248 134426248 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007131.3 -1 reviewed p.G188D 0.325 228 0% 142 10.6% - - benign(0.002) tolerated(0.22) neutral(0.042) NULL LOC644717 644717 genome.wustl.edu 37 X 134774335 134774335 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002343850.1 -1 model p.S794Y 0.001 49 0% 10 40% - - - - - NULL LOC644717 644717 genome.wustl.edu 37 X 134808474 134808474 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002343850.1 -1 model p.S474Y 0.044 55 0% 21 42.9% - - - - - NULL LOC644717 644717 genome.wustl.edu 37 X 134808921 134808921 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002343850.1 -1 model p.Q408H 0.003 83 0% 29 37.9% - - - - - NULL LOC644717 644717 genome.wustl.edu 37 X 134812010 134812010 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad XM_002343850.1 -1 model p.P143S 0.016 215 0% 67 37.3% - - - - - NULL SLC9A6 10479 genome.wustl.edu 37 X 135095554 135095554 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001042537.1 +1 reviewed p.T398 0.841 290 0% 137 13.9% - - - - - HMMPfam_Na_H_Exchanger SLC9A6 10479 genome.wustl.edu 37 X 135104756 135104756 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001042537.1 +1 reviewed p.F454L 1.000 168 0% 45 26.7% - - probably_damaging(0.972) tolerated(1) neutral(0.414) HMMPfam_Na_H_Exchanger SLC9A6 10479 genome.wustl.edu 37 X 135106623 135106623 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001042537.1 +1 reviewed p.L533M 1.000 241 0% 65 38.5% - - probably_damaging(0.994) deleterious(0.01) deleterious(0.858) HMMPfam_Na_H_Exchanger MAP7D3 79649 genome.wustl.edu 37 X 135312582 135312582 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_024597.3 -1 reviewed p.R571I 0.000 139 0% 49 36.7% - - possibly_damaging(0.5) tolerated(0.1) neutral(0.454) NULL GPR112 139378 genome.wustl.edu 37 X 135432519 135432519 + Silent SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153834.3 +1 reviewed p.T2218 0.493 257 0% 51 33.3% - - - - - NULL GPR112 139378 genome.wustl.edu 37 X 135453675 135453675 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_153834.3 +1 reviewed p.A2529T 0.000 59 0% 15 26.7% - - benign(0.195) deleterious(0.03) neutral(0.383) NULL RBMX 27316 genome.wustl.edu 37 X 135961586 135961586 + Missense_Mutation SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002139.3 -1 reviewed p.M1L 1.000 179 0% 174 27.6% - - benign(0.099) deleterious(0) neutral(0.452) NULL ZIC3 7547 genome.wustl.edu 37 X 136651225 136651225 + Splice_Site SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003413.3 +1 reviewed e2+1 1.000 67 0% 122 41% - - - - - - MCF2 4168 genome.wustl.edu 37 X 138678725 138678725 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001099855.1 -1 reviewed p.F814V 1.000 87 0% 17 58.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 CXorf66 347487 genome.wustl.edu 37 X 139038149 139038149 + Missense_Mutation SNP T T A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001013403.2 -1 validated p.K331I 0.000 245 0% 118 36.4% - - benign(0.023) tolerated(0.07) neutral(0.320) NULL CXorf66 347487 genome.wustl.edu 37 X 139040285 139040285 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001013403.2 -1 validated p.V60 0.000 226 0% 87 36.8% - - - - - NULL SOX3 6658 genome.wustl.edu 37 X 139586569 139586569 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005634.2 -1 reviewed p.K219N 1.000 36 0% 33 36.4% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL SOX3 6658 genome.wustl.edu 37 X 139587022 139587022 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005634.2 -1 reviewed p.A68 1.000 9 0.000 21 0.429 - - - - - NULL CDR1 1038 genome.wustl.edu 37 X 139866370 139866370 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004065.2 -1 reviewed p.D54 0.044 358 0% 117 35% - - - - - NULL LDOC1 23641 genome.wustl.edu 37 X 140270951 140270951 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_012317.2 -1 reviewed p.A86T 1.000 73 0% 101 36.6% - - benign(0.115) tolerated(0.43) neutral(0.022) NULL MAGEC3 139081 genome.wustl.edu 37 X 140953280 140953280 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138702.1 +1 reviewed p.K49 0.000 209 0% 101 38.6% - - - - - NULL MAGEC3 139081 genome.wustl.edu 37 X 140985226 140985226 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_138702.1 +1 reviewed p.S561I 0.000 191 0% 98 49% - - probably_damaging(0.982) deleterious(0) deleterious(0.871) HMMPfam_MAGE MAGEC1 9947 genome.wustl.edu 37 X 140993312 140993312 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005462.4 +1 reviewed p.S41F 0.936 86 0% 59 39% - - unknown(0) deleterious(0) - NULL MAGEC1 9947 genome.wustl.edu 37 X 140994059 140994059 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005462.4 +1 reviewed p.R290I 0.645 217 0% 188 14.4% - - probably_damaging(0.963) - - NULL MAGEC1 9947 genome.wustl.edu 37 X 140994383 140994383 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005462.4 +1 reviewed p.S398I 0.000 293 0% 203 38.4% - - unknown(0) deleterious(0) - NULL MAGEC1 9947 genome.wustl.edu 37 X 140995446 140995446 + Silent SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005462.4 +1 reviewed p.S752 0.583 78 0% 64 26.6% - - - - - NULL MAGEC1 9947 genome.wustl.edu 37 X 140995513 140995513 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005462.4 +1 reviewed p.L775I 0.836 100 0% 86 40.7% - - unknown(0) tolerated(0.15) - NULL MAGEC1 9947 genome.wustl.edu 37 X 140996034 140996034 + Silent SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005462.4 +1 reviewed p.V948 0.011 130 0% 69 31.9% - - - - - HMMPfam_MAGE MAGEC1 9947 genome.wustl.edu 37 X 140996289 140996289 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005462.4 +1 reviewed p.E1033D 0.004 103 0% 63 11.1% - - probably_damaging(0.996) tolerated(0.31) deleterious(0.489) HMMPfam_MAGE SLITRK4 139065 genome.wustl.edu 37 X 142718918 142718918 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173078.3 -1 reviewed p.L3M 1.000 48 0% 47 34% - - benign(0.238) tolerated(0.12) neutral(0.285) NULL CXorf1 9142 genome.wustl.edu 37 X 144909302 144909302 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004709.2 +1 validated p.S36F 0.046 167 0% 148 36.5% - - possibly_damaging(0.901) - - NULL FMR1 2332 genome.wustl.edu 37 X 147010244 147010244 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002024.5 +1 reviewed p.R113K 1.000 84 0% 19 31.6% - - possibly_damaging(0.876) deleterious(0) deleterious(0.786) HMMPfam_Agenet FMR1 2332 genome.wustl.edu 37 X 147022171 147022171 + Missense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002024.5 +1 reviewed p.N422T 1.000 127 0% 51 37.3% - - probably_damaging(0.996) tolerated(0.07) deleterious(0.780) HMMSmart_SM00322 FMR1NB 158521 genome.wustl.edu 37 X 147063085 147063085 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_152578.2 +1 validated p.P55T 0.000 43 0% 87 35.6% - - probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL AFF2 2334 genome.wustl.edu 37 X 148044426 148044426 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002025.3 +1 reviewed p.E958* 0.993 151 0% 43 55.8% - - - - - HMMPfam_AF-4 MAMLD1 10046 genome.wustl.edu 37 X 149639363 149639363 + Silent SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005491.3 +1 reviewed p.I506 0.967 62 0% 46 30.4% - - - - - NULL MTMR1 8776 genome.wustl.edu 37 X 149896165 149896165 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003828.2 +1 reviewed p.F145V 1.000 214 0% 61 37.7% - - possibly_damaging(0.948) tolerated(0.55) neutral(0.398) HMMPfam_GRAM,HMMSmart_SM00568,superfamily_PH domain-like MTMR1 8776 genome.wustl.edu 37 X 149901202 149901202 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_003828.2 +1 reviewed p.K352 1.000 108 0% 26 34.6% - - - - - HMMPfam_Myotub-related,superfamily_(Phosphotyrosine protein) phosphatases II CD99L2 83692 genome.wustl.edu 37 X 149944705 149944705 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000355330 -1 known p.S198L 0.907 25 0% 28 35.7% - - - - - NULL CD99L2 83692 genome.wustl.edu 37 X 149999737 149999737 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_031462.3 -1 reviewed p.E33K 0.926 133 0% 48 37.5% - - unknown(0) tolerated(0.1) - NULL HMGB3 3149 genome.wustl.edu 37 X 150156378 150156378 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005342.2 +1 validated p.E198D 0.290 54 0% 60 11.7% - - unknown(0) deleterious(0) - NULL PASD1 139135 genome.wustl.edu 37 X 150789415 150789415 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173493.2 +1 reviewed p.G74D 0.001 117 0% 32 59.4% - - probably_damaging(0.999) tolerated(0.28) deleterious(0.522) HMMSmart_SM00091,superfamily_PYP-like sensor domain (PAS domain) PASD1 139135 genome.wustl.edu 37 X 150840762 150840762 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_173493.2 +1 reviewed p.M515I 0.007 130 0% 86 32.6% - - unknown(0) deleterious(0.01) - NULL PRRG3 79057 genome.wustl.edu 37 X 150873801 150873801 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000448324 +1 known p.A69T 0.002 120 0% 130 38.5% - - benign(0.083) - - NULL CNGA2 1260 genome.wustl.edu 37 X 150912371 150912371 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005140.1 +1 reviewed p.L466M 1.000 115 0% 89 36% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_cNMP,superfamily_cNMP_binding MAGEA4 4103 genome.wustl.edu 37 X 151092752 151092752 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001011548.1 +1 reviewed p.V206I 0.000 275 0% 181 38.7% - - benign(0.007) tolerated(0.43) neutral(0.013) HMMPfam_MAGE MAGEA10 4109 genome.wustl.edu 37 X 151303233 151303233 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001011543.1 -1 reviewed p.P287H 0.012 160 0% 153 45.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MAGE MAGEA10 4109 genome.wustl.edu 37 X 151303313 151303313 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001011543.1 -1 reviewed p.E260D 0.000 153 0% 136 36% - - benign(0.001) deleterious(0.01) neutral(0.406) HMMPfam_MAGE ZNF185 7739 genome.wustl.edu 37 X 152083352 152083352 + Nonsense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_007150.3 +1 reviewed p.Q45* 1.000 60 0% 86 37.2% - - - - - NULL PNMA5 114824 genome.wustl.edu 37 X 152159167 152159167 + Nonsense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001103150.1 -1 validated p.R326* 0.003 41 0% 64 39.1% - - - - - NULL PNMA5 114824 genome.wustl.edu 37 X 152160139 152160139 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001103150.1 -1 validated p.A2T 0.669 87 0% 136 27.9% - - possibly_damaging(0.481) tolerated(0.19) neutral(0.209) NULL PNMA3 29944 genome.wustl.edu 37 X 152226667 152226667 + Nonsense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_013364.4 +1 reviewed p.E419* 0.002 91 0% 155 25.8% - - - - - NULL MAGEA1 4100 genome.wustl.edu 37 X 152482739 152482739 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_004988.4 -1 reviewed p.S91Y 0.000 123 0% 133 41.4% - - benign(0.313) tolerated(1) neutral(0.098) NULL ZNF275 10838 genome.wustl.edu 37 X 152612468 152612468 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001080485.2 +1 validated p.T109A 0.013 104 1% 161 37.9% - - benign(0.003) tolerated(1) - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZFP92 139735 genome.wustl.edu 37 X 152686459 152686459 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001136273.1 +1 validated p.Y208 0.000 88 0% 100 33% - - - - - HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZFP92 139735 genome.wustl.edu 37 X 152686648 152686648 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001136273.1 +1 validated p.K271N 1.000 62 0% 77 28.6% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ATP2B3 492 genome.wustl.edu 37 X 152830558 152830558 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001001344.2 +1 reviewed p.T1113 0.097 20 0% 40 32.5% - - - - - NULL SLC6A8 6535 genome.wustl.edu 37 X 152958463 152958463 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000328897 +1 known p.A255D 0.020 61 0% 150 39.3% - - possibly_damaging(0.539) deleterious(0) deleterious(0.627) HMMPfam_SNF BCAP31 10134 genome.wustl.edu 37 X 152966185 152966185 + RNA SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NR_024450.1 -1 reviewed NULL 0.000 20 0% 25 36% - - - - - - ABCD1 215 genome.wustl.edu 37 X 152991236 152991236 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000033.3 +1 reviewed p.R172H 0.967 42 0% 77 41.6% - - benign(0.002) deleterious(0.04) neutral(0.349) HMMPfam_ABC_membrane_2 ABCD1 215 genome.wustl.edu 37 X 152991541 152991541 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000033.3 +1 reviewed p.R274W 0.516 13 0% 37 40.5% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_ABC_membrane_2 ABCD1 215 genome.wustl.edu 37 X 153005556 153005556 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000033.3 +1 reviewed p.G500D 1.000 38 0% 103 32% - - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_ABC_tran,HMMSmart_AAA,superfamily_SSF52540 PLXNB3 5365 genome.wustl.edu 37 X 153033217 153033217 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005393.2 +1 reviewed p.A312V 0.440 10 0% 24 41.7% - - benign(0.389) tolerated(0.07) neutral(0.444) HMMSmart_Sema,superfamily_Sema PLXNB3 5365 genome.wustl.edu 37 X 153034457 153034457 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005393.2 +1 reviewed p.P441S 0.389 99 0% 250 36.8% - - benign(0.001) tolerated(0.66) neutral(0.003) HMMSmart_Sema,superfamily_Sema PLXNB3 5365 genome.wustl.edu 37 X 153041462 153041462 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005393.2 +1 reviewed p.R1508W 0.998 22 0% 45 31.1% - - probably_damaging(1) tolerated(0.06) deleterious(0.823) superfamily_Rho_GAP,HMMPfam_Plexin_cytopl L1CAM 3897 genome.wustl.edu 37 X 153130376 153130376 + Missense_Mutation SNP A A T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000425.3 -1 reviewed p.D982E 0.916 68 0% 130 38.5% - - benign(0.007) deleterious(0.04) neutral(0.349) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III L1CAM 3897 genome.wustl.edu 37 X 153135896 153135896 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000425.3 -1 reviewed p.H251Q 0.996 100 0% 231 35.1% - - benign(0.01) tolerated(0.11) neutral(0.272) HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin AVPR2 554 genome.wustl.edu 37 X 153171602 153171602 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000054.4 +1 reviewed p.F214 0.994 57 0% 138 39.9% - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ARHGAP4 393 genome.wustl.edu 37 X 153186165 153186165 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001666.4 -1 reviewed p.S199I 0.001 17 0% 33 21.2% - - benign(0.157) deleterious(0) neutral(0.459) NULL RENBP 5973 genome.wustl.edu 37 X 153209094 153209094 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002910.5 -1 reviewed p.G122 0.956 31 0% 85 45.9% - - - - - superfamily_Six-hairpin glycosidases HCFC1 3054 genome.wustl.edu 37 X 153217994 153217994 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005334.2 -1 reviewed p.V1638A 1.000 5 0.000 22 0.318 - - benign(0.095) tolerated(0.15) neutral(0.248) NULL HCFC1 3054 genome.wustl.edu 37 X 153219927 153219927 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005334.2 -1 reviewed p.S1308L 0.988 266 0% 477 39% - - possibly_damaging(0.794) deleterious(0) deleterious(0.742) NULL HCFC1 3054 genome.wustl.edu 37 X 153220610 153220610 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_005334.2 -1 reviewed p.C1080 0.429 196 0% 359 10.3% - - - - - NULL FLNA 2316 genome.wustl.edu 37 X 153578514 153578514 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001110556.1 -1 reviewed p.F2406 1.000 97 0% 155 42.6% - - - - - HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin FLNA 2316 genome.wustl.edu 37 X 153579378 153579378 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001110556.1 -1 reviewed p.S2352Y 1.000 69 0% 138 33.3% - - probably_damaging(0.991) tolerated(0.42) neutral(0.458) HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin FLNA 2316 genome.wustl.edu 37 X 153582639 153582639 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001110556.1 -1 reviewed p.G1813C 1.000 34 0% 78 33.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin FLNA 2316 genome.wustl.edu 37 X 153588139 153588139 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001110556.1 -1 reviewed p.D1314N 0.987 27 0% 48 12.5% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin FLNA 2316 genome.wustl.edu 37 X 153588202 153588202 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001110556.1 -1 reviewed p.V1293I 0.962 17 0% 43 44.2% - - benign(0.003) tolerated(0.55) neutral(0.007) HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin FLNA 2316 genome.wustl.edu 37 X 153590359 153590359 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001110556.1 -1 reviewed p.T938 0.001 127 0% 187 38% - - - - - HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin FLNA 2316 genome.wustl.edu 37 X 153594987 153594987 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001110556.1 -1 reviewed p.N336 0.598 160 0% 331 32.9% - - - - - HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin FLNA 2316 genome.wustl.edu 37 X 153596326 153596326 + Missense_Mutation SNP T T G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001110556.1 -1 reviewed p.K169T 1.000 71 0% 183 34.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain ATP6AP1 537 genome.wustl.edu 37 X 153664080 153664080 + Missense_Mutation SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001183.4 +1 reviewed p.A419V 1.000 114 0% 247 33.6% - - probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_ATP-synt_S1 PLXNA3 55558 genome.wustl.edu 37 X 153689468 153689468 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017514.3 +1 reviewed p.Q208H 1.000 113 0% 206 34.5% - - possibly_damaging(0.924) tolerated(0.1) deleterious(0.659) HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema PLXNA3 55558 genome.wustl.edu 37 X 153694582 153694582 + Missense_Mutation SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_017514.3 +1 reviewed p.R923H 1.000 78 0% 195 33.3% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_TIG,HMMSmart_IPT,superfamily_Ig_E-set FAM3A 60343 genome.wustl.edu 37 X 153735636 153735636 + Silent SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_021806.2 -1 validated p.L165 0.981 50 0% 134 38.1% - - - - - NULL G6PD 2539 genome.wustl.edu 37 X 153762303 153762303 + Missense_Mutation SNP C C G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000402.3 -1 reviewed p.E269D 1.000 112 0% 170 41.2% - - probably_damaging(0.969) deleterious(0) deleterious(0.856) HMMPfam_G6PD_C,superfamily_SSF55347 G6PD 2539 genome.wustl.edu 37 X 153774293 153774293 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000402.3 -1 reviewed p.F56L 1.000 94 0% 205 12.2% - - benign(0.003) tolerated(0.07) neutral(0.319) superfamily_NAD(P)-bd DKC1 1736 genome.wustl.edu 37 X 153993724 153993724 + Missense_Mutation SNP A A G novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_001363.3 +1 reviewed p.I30M 0.993 138 0% 261 37.2% - - benign(0.004) tolerated(0.08) neutral(0.300) NULL MPP1 4354 genome.wustl.edu 37 X 154011737 154011737 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002436.3 -1 reviewed p.S304I 1.000 80 0% 84 39.3% - - benign(0.051) tolerated(0.41) neutral(0.018) HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases MPP1 4354 genome.wustl.edu 37 X 154012323 154012323 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002436.3 -1 reviewed p.R282M 1.000 103 0% 66 37.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases MPP1 4354 genome.wustl.edu 37 X 154014661 154014661 + Silent SNP C C T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_002436.3 -1 reviewed p.A165 0.138 82 0% 49 36.7% - - - - - HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_SH3_2 ENSG00000203870 0 genome.wustl.edu 37 X 154059088 154059088 + Missense_Mutation SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad ENST00000369529 -1 known p.S15Y 0.000 136 0% 61 13.1% - - probably_damaging(0.978) - - NULL F8 2157 genome.wustl.edu 37 X 154157295 154157295 + Nonsense_Mutation SNP A A C novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000132.3 -1 reviewed p.Y1590* 0.001 128 0% 42 9.5% - - - - - NULL F8 2157 genome.wustl.edu 37 X 154157942 154157942 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000132.3 -1 reviewed p.D1375Y 0.001 364 0% 95 31.6% - - possibly_damaging(0.805) deleterious(0) deleterious(0.748) NULL F8 2157 genome.wustl.edu 37 X 154159170 154159170 + Missense_Mutation SNP C C A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NM_000132.3 -1 reviewed p.K965N 0.001 63 0% 26 26.9% - - benign(0.001) tolerated(0.67) neutral(0.003) NULL IL9R 3581 genome.wustl.edu 37 X 155227375 155227375 + RNA SNP G G T novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NR_024033.1 +1 reviewed NULL 0.001 338 0% 218 37.6% - - - - - - IL9R 3581 genome.wustl.edu 37 X 155227384 155227384 + RNA SNP G G A novel TCGA-D1-A103-01A-11D-A10M-09 TCGA-D1-A103-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d421fa4c-647d-40a5-80ab-7e376574efc3 0bd82953-f6fe-435a-9438-1a4b14b9a5ad NR_024033.1 +1 reviewed NULL 0.003 370 0% 228 36.4% - - - - - -