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 NADK 65220 genome.wustl.edu 37 1 1689870 1689870 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef ENST00000342348 -1 known p.P34L 0.000 20 0% 39 56.4% 0 - benign(0.007) tolerated(0.12) neutral(0.261) NULL PRDM16 63976 genome.wustl.edu 37 1 3102782 3102782 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_022114.3 +1 reviewed p.S44L 1.000 8 0.000 8 0.750 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL CHD5 26038 genome.wustl.edu 37 1 6172218 6172218 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_015557.1 -1 provisional p.A1708T 1.000 56 0% 74 51.4% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL CHD5 26038 genome.wustl.edu 37 1 6195336 6195336 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_015557.1 -1 provisional p.A942T 0.983 32 0% 55 52.7% 0 - benign(0.002) tolerated(0.09) neutral(0.296) HMMPfam_SNF2_N RPL22 6146 ucsc.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T - - novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_000983.3 -1 reviewed p.K15fs 1 - - - - - - - - - HMMPfam_Ribosomal_L22e PIK3CD 5293 genome.wustl.edu 37 1 9776649 9776649 + Missense_Mutation SNP A A G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_005026.3 +1 validated p.Y251C 1.000 8 0.000 7 0.714 1 0% benign(0.054) tolerated(0.05) neutral(0.349) HMMPfam_PI3K_rbd,HMMSmart_PI3K_rbd,superfamily_SSF54236 UBR4 23352 genome.wustl.edu 37 1 19473373 19473373 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_020765.2 -1 validated p.R2584H 1.000 418 0% 564 42.2% 12 75% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat HTR6 3362 genome.wustl.edu 37 1 20005635 20005635 + Missense_Mutation SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_000871.1 +1 provisional p.L366P 1.000 12 0% 34 41.2% 0 - probably_damaging(1) tolerated(0.21) deleterious(0.544) NULL LUZP1 7798 genome.wustl.edu 37 1 23419384 23419384 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001142546.1 -1 reviewed p.P457 0.039 452 0% 656 40.1% 2 0% - - - NULL ARID1A 8289 genome.wustl.edu 37 1 27056217 27056217 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_006015.4 +1 reviewed p.Q405* 1.000 167 0% 308 40.3% 5 40% - - - NULL GPR3 2827 genome.wustl.edu 37 1 27720968 27720968 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_005281.2 +1 provisional p.R222 1.000 51 0% 105 16.2% 4 0% - - - HMMPfam_7tm_1,superfamily_SSF81321 TMEM39B 55116 genome.wustl.edu 37 1 32560409 32560409 + Missense_Mutation SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_018056.2 +1 validated p.W318R 1.000 43 0% 97 43.3% 28 32.1% benign(0.314) deleterious(0) deleterious(0.542) HMMPfam_Tmp39 KIAA1522 57648 genome.wustl.edu 37 1 33234340 33234340 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_020888.2 +1 validated p.A184T 0.993 57 0% 104 41.3% 21 52.3% probably_damaging(0.99) - - NULL GJB4 127534 genome.wustl.edu 37 1 35227579 35227579 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_153212.2 +1 reviewed p.G242* 0.001 64 0% 130 51.5% 0 - - - - NULL EIF2C3 192669 genome.wustl.edu 37 1 36492761 36492761 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_024852.2 +1 reviewed p.P485S 1.000 108 0% 155 39.4% 6 50% benign(0.006) tolerated(0.18) neutral(0.056) NULL RSPO1 284654 genome.wustl.edu 37 1 38082230 38082230 + Missense_Mutation SNP T T G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001038633.2 -1 reviewed p.Q71P 1.000 57 0% 103 48.5% 0 - probably_damaging(0.978) deleterious(0) deleterious(0.865) HMMSmart_SM00261,superfamily_Growth factor receptor domain CTPS 1503 genome.wustl.edu 37 1 41449024 41449024 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001905.2 +1 validated p.S21N 1.000 83 0% 72 45.8% 15 60% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CTP_synth_N,superfamily_SSF52540 FOXJ3 22887 genome.wustl.edu 37 1 42647697 42647697 + Splice_Site SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_014947.3 -1 validated e11-2 0.990 24 0% 35 48.6% 0 - - - - - SZT2 23334 genome.wustl.edu 37 1 43913828 43913828 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_015284.2 +1 predicted p.K2315 1.000 27 0% 22 27.3% 9 66.6% - - - NULL MMACHC 25974 genome.wustl.edu 37 1 45974781 45974781 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_015506.2 +1 reviewed p.P248L 0.000 226 0% 256 44.1% 23 39.1% benign(0.001) tolerated(0.12) neutral(0.261) NULL MRPL37 51253 genome.wustl.edu 37 1 54675789 54675789 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_016491.3 +1 reviewed p.V273M 0.978 139 0% 248 14.1% 224 15.6% possibly_damaging(0.691) tolerated(0.12) deleterious(0.508) NULL FAM151A 338094 genome.wustl.edu 37 1 55080533 55080533 + Splice_Site SNP C C A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_176782.2 -1 validated e4-1 1.000 51 0% 83 33.7% 0 - - - - - MYSM1 114803 genome.wustl.edu 37 1 59134352 59134352 + Missense_Mutation SNP C C A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001085487.1 -1 provisional p.E573D 1.000 26 0% 32 62.5% 0 - probably_damaging(0.981) tolerated(0.08) deleterious(0.726) HMMPfam_Mov34 L1TD1 54596 genome.wustl.edu 37 1 62675691 62675691 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_019079.4 +1 validated p.E415 0.000 216 0% 234 36.3% 0 - - - - NULL JAK1 3716 genome.wustl.edu 37 1 65335106 65335106 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_002227.2 -1 reviewed p.E179K 1.000 202 0% 332 44.3% 4 0% possibly_damaging(0.697) deleterious(0.04) deleterious(0.599) HMMSmart_B41 NEGR1 257194 genome.wustl.edu 37 1 72076745 72076745 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_173808.2 -1 validated p.P251L 1.000 118 0.8% 190 42.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_IGc2,HMMPfam_ig,superfamily_SSF48726 CTBS 1486 genome.wustl.edu 37 1 85020878 85020878 + Missense_Mutation SNP G G T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_004388.2 -1 validated p.P321H 0.009 98 0% 98 50% 10 20% benign(0.007) tolerated(0.22) neutral(0.042) HMMPfam_Glyco_hydro_18,HMMSmart_SM00636,superfamily_(Trans)glycosidases CLCA4 22802 genome.wustl.edu 37 1 87036798 87036798 + Silent SNP A A G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_012128.3 +1 reviewed p.E407 1.000 313 0% 299 40.1% 0 - - - - HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300 GLMN 11146 genome.wustl.edu 37 1 92763064 92763064 + Missense_Mutation SNP A A C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_053274.2 -1 reviewed p.F21C 1.000 141 0% 174 43.7% 10 60% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FKBP12 LRRC39 127495 genome.wustl.edu 37 1 100620648 100620648 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_144620.2 -1 provisional p.L257 0.356 115 0% 111 37.8% 0 - - - - HMMSmart_SM00369,superfamily_L domain-like CDC14A 8556 genome.wustl.edu 37 1 100928278 100928278 + Missense_Mutation SNP C C G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_033312.2 +1 reviewed p.L227V 1.000 170 0% 205 37.6% 6 33.3% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_SM00195,superfamily_(Phosphotyrosine protein) phosphatases II AHCYL1 10768 genome.wustl.edu 37 1 110561083 110561083 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_006621.4 +1 validated p.I404 0.989 98 0% 132 43.2% 209 47.8% - - - HMMPfam_AdoHcyase,HMMPfam_AdoHcyase_NAD,superfamily_NAD(P)-binding Rossmann-fold domains,superfamily_Formate/glycerate dehydrogenase catalytic domain-like FAM40A 85369 genome.wustl.edu 37 1 110591747 110591747 + Missense_Mutation SNP C C G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_033088.2 +1 validated p.Q559E 1.000 45 0% 81 39.5% 12 41.6% possibly_damaging(0.45) tolerated(0.38) neutral(0.165) NULL PDE4DIP 9659 genome.wustl.edu 37 1 145015897 145015897 + Missense_Mutation SNP G G T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_022359.4 -1 validated p.P135H 0.996 1030 0% 1962 7.4% 3 33.3% possibly_damaging(0.872) deleterious(0) deleterious(0.784) NULL PDE4DIP 9659 genome.wustl.edu 37 1 145015939 145015939 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_022359.4 -1 validated p.P121L 0.003 874 0% 1639 9.2% 5 0% possibly_damaging(0.911) deleterious(0) deleterious(0.807) NULL ANKRD35 148741 genome.wustl.edu 37 1 145561657 145561657 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_144698.3 +1 validated p.A449T 0.000 113 0% 147 33.3% 19 10.5% benign(0.002) deleterious(0.01) neutral(0.406) NULL LCE2B 26239 genome.wustl.edu 37 1 152659379 152659379 + Silent SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_014357.4 +1 reviewed p.C20 0.243 372 0% 872 28% 0 - - - - NULL S100A2 6273 genome.wustl.edu 37 1 153536278 153536278 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_005978.3 -1 reviewed p.D25N 0.877 78 0% 105 26.7% 90 37.7% possibly_damaging(0.919) tolerated(0.16) neutral(0.429) HMMPfam_S_100,superfamily_EF-hand INTS3 65123 genome.wustl.edu 37 1 153730127 153730127 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_023015.3 +1 validated p.R346H 1.000 278 0% 564 31% 32 40.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_DUF2356 SHC1 6464 genome.wustl.edu 37 1 154936282 154936282 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001130040.1 -1 validated p.L584 1.000 45 0% 114 33.3% 134 29.1% - - - NULL DCST1 149095 genome.wustl.edu 37 1 155007003 155007003 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_152494.2 +1 validated p.L52 1.000 48 0% 160 34.4% 0 - - - - NULL GON4L 54856 genome.wustl.edu 37 1 155732136 155732136 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001037533.1 -1 validated p.R1586W 1.000 26 0% 75 38.7% 14 28.5% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL RHBG 57127 genome.wustl.edu 37 1 156348180 156348180 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_020407.3 +1 reviewed p.F221 0.997 56 0% 119 16% 1 0% - - - HMMPfam_Ammonium_transp,superfamily_Ammonium ransporter (Pfam 00909) INSRR 3645 genome.wustl.edu 37 1 156814927 156814927 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_014215.1 -1 validated p.A793V 0.993 9 0.000 21 0.476 0 - benign(0.01) tolerated(0.25) neutral(0.037) HMMSmart_FN3,superfamily_FN_III-like OR10T2 128360 genome.wustl.edu 37 1 158368423 158368423 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001004475.1 -1 provisional p.Y278 0.623 89 0% 167 28.1% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 SPTA1 6708 genome.wustl.edu 37 1 158612266 158612266 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_003126.2 -1 reviewed p.V1558I 0.019 149 0% 203 29.6% 0 - possibly_damaging(0.652) tolerated(0.28) neutral(0.261) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat VSIG8 391123 genome.wustl.edu 37 1 159825869 159825869 + Missense_Mutation SNP A A G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001013661.1 -1 provisional p.S259P 0.297 7 0.000 19 0.316 0 - benign(0.427) tolerated(0.42) neutral(0.153) NULL CCDC19 25790 genome.wustl.edu 37 1 159842300 159842300 + Missense_Mutation SNP A A G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_012337.2 -1 validated p.I544T 0.995 279 0% 610 27% 20 20% benign(0.009) tolerated(0.22) neutral(0.043) NULL COPA 1314 genome.wustl.edu 37 1 160261165 160261165 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001098398.1 -1 reviewed p.R1136H 1.000 119 0% 309 27.2% 464 35.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_COPI_C NIT1 4817 genome.wustl.edu 37 1 161089617 161089617 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_005600.1 +1 provisional p.V156M 0.997 119 0% 257 27.2% 53 33.9% probably_damaging(0.999) tolerated(0.14) deleterious(0.740) HMMPfam_CN_hydrolase,superfamily_Carbon-nitrogen hydrolase B4GALT3 8703 genome.wustl.edu 37 1 161141719 161141719 + Missense_Mutation SNP A A G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_003779.2 -1 reviewed p.Y357H 0.912 84 0% 142 12% 167 10.1% benign(0.04) tolerated(0.06) neutral(0.325) NULL B4GALT3 8703 genome.wustl.edu 37 1 161143404 161143404 + Missense_Mutation SNP A A C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_003779.2 -1 reviewed p.I265S 1.000 226 0% 526 31.6% 93 31.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Galactosyl_T_2,superfamily_Nucleotide-diphospho-sugar transferases C1orf112 55732 genome.wustl.edu 37 1 169818675 169818675 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_018186.2 +1 predicted p.A698V 0.738 128 0% 187 27.8% 20 30% benign(0.309) tolerated(0.28) neutral(0.128) NULL FMO3 2328 genome.wustl.edu 37 1 171077276 171077276 + Frame_Shift_Del DEL G G - novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001002294.2 +1 reviewed p.V181fs 0.000 - - - - - - - - - HMMPfam_FMO-like,superfamily_FAD/NAD(P)-binding domain PRRC2C 23215 genome.wustl.edu 37 1 171510462 171510462 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_015172.3 +1 validated p.G1284D 1.000 264 0% 390 26.4% 18 33.3% unknown(0) - - NULL FASLG 356 genome.wustl.edu 37 1 172628583 172628583 + Missense_Mutation SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_000639.1 +1 reviewed p.L81P 0.094 39 0% 89 27% 0 - benign(0.282) deleterious(0) deleterious(0.531) NULL FAM5B 57795 genome.wustl.edu 37 1 177199073 177199073 + Missense_Mutation SNP G G T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_021165.2 +1 provisional p.A21S 0.001 47 0% 62 41.9% 0 - benign(0) tolerated(0.09) neutral(0.296) NULL FAM5B 57795 genome.wustl.edu 37 1 177245428 177245428 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_021165.2 +1 provisional p.C290 1.000 74 0% 110 36.4% 1 0% - - - NULL CACNA1E 777 genome.wustl.edu 37 1 181724387 181724387 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_000721.2 +1 reviewed p.C1281 0.970 88 0% 213 27.2% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SMG7 9887 genome.wustl.edu 37 1 183514365 183514365 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_173156.2 +1 validated p.A763V 1.000 315 0% 575 29.7% 39 33.3% benign(0.12) tolerated(0.42) neutral(0.024) NULL FAM129A 116496 genome.wustl.edu 37 1 184787849 184787849 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_052966.2 -1 validated p.R366C 0.831 267 0% 591 32.7% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL HMCN1 83872 genome.wustl.edu 37 1 186077625 186077625 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_031935.2 +1 reviewed p.R3629W 1.000 138 0% 230 20.9% 0 - possibly_damaging(0.886) deleterious(0.01) deleterious(0.752) HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HMCN1 83872 genome.wustl.edu 37 1 186141194 186141194 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_031935.2 +1 reviewed p.R5249C 1.000 250 0.4% 453 32.7% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin PLA2G4A 5321 genome.wustl.edu 37 1 186957626 186957626 + Missense_Mutation SNP A A G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_024420.2 +1 reviewed p.K746E 1.000 208 0% 274 24.1% 16 62.5% possibly_damaging(0.556) deleterious(0.01) deleterious(0.595) NULL FAM5C 339479 genome.wustl.edu 37 1 190067930 190067930 + Nonsense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_199051.1 -1 provisional p.R507* 0.783 218 0% 416 32% 0 - - - - NULL FAM5C 339479 genome.wustl.edu 37 1 190234051 190234051 + Missense_Mutation SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_199051.1 -1 provisional p.R188G 1.000 115 0% 182 13.7% 1 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_SM00457 KIF21B 23046 genome.wustl.edu 37 1 200972893 200972893 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_017596.2 -1 provisional p.A345T 1.000 53 0% 130 23.8% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SSF52540 TNNT2 7139 genome.wustl.edu 37 1 201331144 201331144 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_000364.2 -1 reviewed p.R203W 0.908 110 0% 185 31.4% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Troponin LMOD1 25802 genome.wustl.edu 37 1 201868829 201868829 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_012134.2 -1 reviewed p.A438T 1.000 80 0% 201 30.3% 3 0% possibly_damaging(0.718) tolerated(0.35) neutral(0.281) HMMPfam_Tropomodulin,superfamily_SSF52047 SYT2 127833 genome.wustl.edu 37 1 202573647 202573649 + In_Frame_Del DEL TTC TTC - novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001136504.1 -1 validated p.K93in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL PLEKHA6 22874 genome.wustl.edu 37 1 204226650 204226650 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_014935.2 -1 validated p.R452H 1.000 20 0% 30 23.3% 0 - probably_damaging(0.999) tolerated(0.06) deleterious(0.813) NULL SLC26A9 115019 genome.wustl.edu 37 1 205901042 205901042 + Missense_Mutation SNP C C A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_134325.2 -1 reviewed p.E166D 0.330 48 0% 99 28.3% 0 - benign(0.002) tolerated(1) - NULL LAMB3 3914 genome.wustl.edu 37 1 209807969 209807969 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_000228.2 -1 reviewed p.A129 0.007 39 0% 97 34% 1 100% - - - HMMPfam_Laminin_N,HMMSmart_LamNT,superfamily_Gal_bind_like ATF3 467 genome.wustl.edu 37 1 212792856 212792856 + Missense_Mutation SNP C C A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001030287.2 +1 reviewed p.L169I 1.000 101 0% 238 28.2% 16 31.2% probably_damaging(0.996) deleterious(0.03) deleterious(0.826) NULL RAB3GAP2 25782 genome.wustl.edu 37 1 220340662 220340662 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_012414.3 -1 reviewed p.Y1020 0.857 173 0% 281 23.8% 12 8.3% - - - NULL RAB3GAP2 25782 genome.wustl.edu 37 1 220344243 220344245 + In_Frame_Del DEL CTT CTT - novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_012414.3 -1 reviewed p.E932in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL WDR26 80232 genome.wustl.edu 37 1 224606036 224606036 + Silent SNP C C A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_025160.6 -1 reviewed p.R168 1.000 84 0% 165 28.5% 51 19.6% - - - superfamily_WD40 repeat-like LEFTY1 10637 genome.wustl.edu 37 1 226075151 226075151 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_020997.2 -1 reviewed p.G229R 0.003 19 0% 33 27.3% 11 18.1% benign(0.01) deleterious(0.05) neutral(0.346) HMMPfam_TGFb_propeptide ITPKB 3707 genome.wustl.edu 37 1 226923391 226923391 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_002221.3 -1 reviewed p.R590Q 0.000 30 0% 43 27.9% 23 30.4% benign(0.116) deleterious(0.05) neutral(0.354) NULL WNT3A 89780 genome.wustl.edu 37 1 228246978 228246978 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_033131.2 +1 reviewed p.G291S 1.000 4 0.000 14 0.429 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_wnt,HMMSmart_WNT1 HEATR1 55127 genome.wustl.edu 37 1 236760224 236760224 + Missense_Mutation SNP A A G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_018072.4 -1 validated p.F219S 1.000 156 0% 378 28.6% 8 37.5% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL ACTN2 88 genome.wustl.edu 37 1 236918434 236918434 + Missense_Mutation SNP G G T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001103.2 +1 reviewed p.G697V 1.000 209 0% 431 28.1% 0 - benign(0.001) tolerated(0.24) neutral(0.037) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat MTR 4548 genome.wustl.edu 37 1 237023145 237023145 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_000254.2 +1 reviewed p.G656* 1.000 130 0.8% 278 29.9% 8 0% - - - NULL FMN2 56776 genome.wustl.edu 37 1 240286511 240286511 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_020066.4 +1 validated p.Q550* 1.000 150 0% 337 32.6% 0 - - - - NULL CHML 1122 genome.wustl.edu 37 1 241797474 241797474 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001821.3 -1 reviewed p.P532L 0.057 172 0% 170 30.6% 5 20% benign(0.177) tolerated(0.18) neutral(0.073) HMMPfam_GDI,superfamily_FAD/NAD(P)-binding domain,superfamily_FAD-linked reductases C-terminal domain TFB2M 64216 genome.wustl.edu 37 1 246729393 246729393 + Frame_Shift_Del DEL G G - novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_022366.2 -1 validated p.L17fs 0.000 - - - - - - - - - NULL AHCTF1 25909 genome.wustl.edu 37 1 247013926 247013926 + Silent SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_015446.4 -1 validated p.R1794 0.000 211 0% 379 23% 15 20% - - - NULL ZNF496 84838 genome.wustl.edu 37 1 247463860 247463860 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_032752.1 -1 provisional p.H575 1.000 22 0% 41 22% 24 29.1% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 OR2C3 81472 genome.wustl.edu 37 1 247695158 247695158 + Missense_Mutation SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_198074.4 -1 validated p.Y219C 0.908 107 0% 192 31.2% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_7tm_1,superfamily_SSF81321 OR14K1 343170 genome.wustl.edu 37 1 247902807 247902807 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef ENST00000283225 +1 known p.S297 0.000 121 0% 190 21.6% 0 - - - - superfamily_SSF81321 OR2T2 401992 genome.wustl.edu 37 1 248616359 248616359 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001004136.1 +1 provisional p.L87 0.009 420 0% 854 11.5% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PGBD2 267002 genome.wustl.edu 37 1 249211520 249211520 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_170725.2 +1 validated p.R246K 0.998 331 0% 592 30.4% 13 38.4% probably_damaging(0.987) deleterious(0.04) deleterious(0.785) NULL PXDN 7837 genome.wustl.edu 37 2 1652393 1652393 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_012293.1 -1 validated p.Y1053 0.998 26 0% 36 44.4% 2 0% - - - HMMPfam_An_peroxidase,superfamily_Heme-dependent peroxidases COLEC11 78989 genome.wustl.edu 37 2 3652002 3652002 + Missense_Mutation SNP T T A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_024027.3 +1 validated p.H24Q 0.005 63 0% 77 42.9% 0 - benign(0.027) tolerated(0.3) neutral(0.030) NULL TRIB2 28951 genome.wustl.edu 37 2 12863394 12863394 + Silent SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_021643.3 +1 reviewed p.D93 1.000 63 0% 67 43.3% 13 38.4% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) PUM2 23369 genome.wustl.edu 37 2 20482731 20482731 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_015317.1 -1 provisional p.A566V 1.000 117 0% 181 38.7% 31 35.4% possibly_damaging(0.894) deleterious(0.02) deleterious(0.735) NULL ADCY3 109 genome.wustl.edu 37 2 25095482 25095482 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_004036.3 -1 reviewed p.S261L 1.000 192 0% 289 37% 6 33.3% probably_damaging(0.997) deleterious(0.05) deleterious(0.811) NULL WDR43 23160 genome.wustl.edu 37 2 29152462 29152462 + Silent SNP T T A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_015131.1 +1 validated p.R441 1.000 128 0% 119 38.7% 45 44.4% - - - superfamily_WD40_like BIRC6 57448 genome.wustl.edu 37 2 32703729 32703729 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_016252.3 +1 reviewed p.T2365 0.001 153 0% 170 50% 4 25% - - - NULL PSME4 23198 genome.wustl.edu 37 2 54163958 54163958 + Missense_Mutation SNP C C A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_014614.2 -1 validated p.W234C 1.000 175 0% 198 34.8% 9 55.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PNPT1 87178 genome.wustl.edu 37 2 55874510 55874510 + Missense_Mutation SNP T T G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_033109.3 -1 validated p.E525A 1.000 122 0% 102 52% 36 44.4% benign(0.055) tolerated(0.37) neutral(0.022) HMMPfam_RNase_PH_C,superfamily_3_ExoRNase ETAA1 54465 genome.wustl.edu 37 2 67631733 67631733 + Missense_Mutation SNP A A G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_019002.3 +1 validated p.N640S 0.090 277 0% 336 45.5% 9 55.5% unknown(0) tolerated(0.53) - NULL LOXL3 84695 genome.wustl.edu 37 2 74779707 74779707 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_032603.2 -1 reviewed p.L19 0.898 16 0% 21 42.9% 1 0% - - - NULL C2orf29 55571 genome.wustl.edu 37 2 101869794 101869794 + Missense_Mutation SNP A A G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_017546.4 +1 validated p.Q123R 1.000 10 0% 10 60% 35 54.2% probably_damaging(0.958) deleterious(0.03) deleterious(0.766) NULL POLR1B 84172 genome.wustl.edu 37 2 113317033 113317033 + Silent SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_019014.4 +1 validated p.C498 0.834 191 0% 190 48.4% 13 69.2% - - - HMMPfam_RNA_pol_Rpb2_3,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase POLR1B 84172 genome.wustl.edu 37 2 113322066 113322066 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_019014.4 +1 validated p.R579H 1.000 305 0% 389 45.8% 11 54.5% unknown(0) - - HMMPfam_RNA_pol_Rpa2_4,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase CLASP1 23332 genome.wustl.edu 37 2 122120862 122120862 + Silent SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_015282.2 -1 validated p.A1364 0.227 113 0% 142 44.4% 13 38.4% - - - HMMPfam_HEAT,superfamily_ARM repeat SAP130 79595 genome.wustl.edu 37 2 128703107 128703107 + Missense_Mutation SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_024545.3 -1 validated p.I933V 1.000 146 0% 235 46.8% 53 39.6% benign(0.002) tolerated(0.81) neutral(0.001) NULL UGGT1 56886 genome.wustl.edu 37 2 128867290 128867290 + Missense_Mutation SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_020120.3 +1 validated p.L164P 0.059 93 0% 117 53.8% 4 25% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL TUBA3E 112714 genome.wustl.edu 37 2 130952040 130952040 + Splice_Site SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_207312.2 -1 validated e4-1 1.000 71 0% 96 41.7% 0 - - - - - NCKAP5 344148 genome.wustl.edu 37 2 133489551 133489551 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_207363.2 -1 validated p.S1734 0.000 77 0% 100 46% 1 100% - - - NULL R3HDM1 23518 genome.wustl.edu 37 2 136479545 136479545 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_015361.2 +1 provisional p.A943V 1.000 81 0% 108 13% 58 18.9% benign(0.088) deleterious(0.04) neutral(0.355) NULL LRP1B 53353 genome.wustl.edu 37 2 141806579 141806579 + Missense_Mutation SNP C C G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_018557.2 -1 validated p.E589Q 0.323 317 0% 256 42.2% 0 - possibly_damaging(0.736) tolerated(0.43) neutral(0.283) HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 ZEB2 9839 genome.wustl.edu 37 2 145156904 145156904 + Missense_Mutation SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_014795.3 -1 reviewed p.H617R 0.999 210 0% 245 49% 2 0% benign(0.126) tolerated(0.44) neutral(0.023) NULL LYPD6B 130576 genome.wustl.edu 37 2 150061828 150061828 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_177964.3 +1 provisional p.A47T 0.019 219 0% 307 41.7% 4 50% possibly_damaging(0.753) deleterious(0) deleterious(0.721) NULL RIF1 55183 genome.wustl.edu 37 2 152308206 152308206 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef ENST00000414861 +1 known p.A769T 0.382 97 0% 96 41.7% 1 0% - - - NULL NEB 4703 genome.wustl.edu 37 2 152381033 152381033 + Missense_Mutation SNP C C T rs142454476 by1000genomes TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_004543.4 -1 reviewed p.S5756N 1.000 235 0% 264 41.3% 1 0% probably_damaging(0.994) tolerated(0.11) deleterious(0.724) HMMPfam_Nebulin,HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152397281 152397281 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_004543.4 -1 reviewed p.P5205L 0.998 124 0% 175 45.1% 0 - probably_damaging(0.997) tolerated(0.08) deleterious(0.766) NULL ACVR1 90 genome.wustl.edu 37 2 158626918 158626918 + Missense_Mutation SNP A A G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001105.4 -1 reviewed p.L251S 1.000 306 0% 392 43.6% 35 37.1% probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_Kinase_like,HMMPfam_Pkinase PKP4 8502 genome.wustl.edu 37 2 159477827 159477827 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_003628.3 +1 reviewed p.S166N 1.000 142 0% 219 44.3% 49 51% benign(0) tolerated(1) - NULL PLA2R1 22925 genome.wustl.edu 37 2 160884860 160884860 + Missense_Mutation SNP T T A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_007366.3 -1 validated p.E323V 1.000 248 0% 245 42.4% 3 66.6% benign(0.103) tolerated(0.24) neutral(0.045) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like PLA2R1 22925 genome.wustl.edu 37 2 160901516 160901516 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_007366.3 -1 validated p.G88S 0.002 161 0% 250 49.6% 2 50% benign(0.038) tolerated(0.2) neutral(0.051) HMMSmart_SM00458,superfamily_Ricin B-like lectins SCN1A 6323 genome.wustl.edu 37 2 166850722 166850722 + Missense_Mutation SNP G G A rs121917993 byCluster TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_006920.4 -1 reviewed p.R1585C 1.000 127 0% 140 45.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_SSF81324 PPIG 9360 genome.wustl.edu 37 2 170487312 170487314 + In_Frame_Del DEL ATC ATC - novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 ATC ATC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_004792.2 +1 validated p.S196in_frame_del 0.909:0.999:1.000 - - - - - - - - - NULL PPIG 9360 genome.wustl.edu 37 2 170493862 170493862 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_004792.2 +1 validated p.D698 1.000 137 0% 130 40.8% 21 23.8% - - - NULL TTN 7273 genome.wustl.edu 37 2 179410818 179410818 + Silent SNP G G T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_133378.4 -1 reviewed p.S29147* 1.000 202 0% 235 47.7% 0 - - - - NULL STAT1 6772 genome.wustl.edu 37 2 191848369 191848369 + Missense_Mutation SNP C C A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_007315.3 -1 reviewed p.R482M 1.000 109 0% 125 32.8% 65 47.6% possibly_damaging(0.746) deleterious(0) deleterious(0.719) superfamily_p53-like transcription factors,HMMPfam_STAT_bind PLCL1 5334 genome.wustl.edu 37 2 198950816 198950816 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_006226.3 +1 validated p.R761C 1.000 178 0% 247 44.9% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL RAPH1 65059 genome.wustl.edu 37 2 204305185 204305185 + Missense_Mutation SNP G G T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_213589.1 -1 validated p.P910T 0.030 20 0% 43 27.9% 4 50% benign(0.344) deleterious(0.02) deleterious(0.491) NULL ACADL 33 genome.wustl.edu 37 2 211057554 211057554 + Silent SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001608.3 -1 reviewed p.G391 0.870 134 0% 120 43.3% 8 37.5% - - - PatternScan_ACYL_COA_DH_2,HMMPfam_Acyl-CoA_dh_1,superfamily_AcylCoADH_C_like ZNF142 7701 genome.wustl.edu 37 2 219509479 219509481 + In_Frame_Del DEL GTG GTG - novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 GTG GTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001105537.1 -1 validated p.T587in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF142 7701 genome.wustl.edu 37 2 219515090 219515090 + Missense_Mutation SNP C C A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001105537.1 -1 validated p.R147L 0.029 289 0% 350 43.1% 5 60% benign(0) deleterious(0.02) neutral(0.383) NULL CYP27A1 1593 genome.wustl.edu 37 2 219679347 219679347 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_000784.3 +1 reviewed p.R448H 1.000 63 0% 95 43.2% 45 37.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_p450,superfamily_Cytochrome P450 CNPPD1 27013 genome.wustl.edu 37 2 220038191 220038191 + Splice_Site SNP T T A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_015680.4 -1 validated e7-2 1.000 56 0% 74 39.2% 0 - - - - - SLC4A3 6508 genome.wustl.edu 37 2 220500069 220500069 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_201574.2 +1 validated p.S635N 1.000 50 0% 51 29.4% 2 50% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Band_3_cyto,superfamily_Phoshotransferase/anion transport protein SLC4A3 6508 genome.wustl.edu 37 2 220504227 220504227 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_201574.2 +1 validated p.R1043Q 0.981 49 0% 93 16.1% 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HCO3_cotransp IRS1 3667 genome.wustl.edu 37 2 227662285 227662285 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_005544.2 -1 reviewed p.V390 1.000 36 0% 33 27.3% 4 0% - - - NULL GIGYF2 26058 genome.wustl.edu 37 2 233651941 233651941 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001103147.1 +1 reviewed p.R227H 1.000 107 0.9% 163 42.9% 14 71.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL UGT1A4 54657 genome.wustl.edu 37 2 234676504 234676504 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_007120.2 +1 reviewed p.R337W 1.000 226 0% 308 39.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase MLPH 79083 genome.wustl.edu 37 2 238461048 238461048 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_024101.5 +1 reviewed p.A582T 0.864 133 0% 200 45% 304 46% benign(0) deleterious(0.01) neutral(0.406) NULL OR6B3 150681 genome.wustl.edu 37 2 240984579 240984579 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_173351.1 -1 provisional p.A304V 0.000 231 0% 332 42.8% 0 - benign(0) tolerated(0.7) neutral(0.002) superfamily_SSF81321 ATG4B 23192 genome.wustl.edu 37 2 242606085 242606085 + Silent SNP C C A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_013325.4 +1 reviewed p.P188 0.000 18 0% 25 40% 70 50% - - - HMMPfam_Peptidase_C54 DTYMK 1841 genome.wustl.edu 37 2 242615606 242615606 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_012145.3 -1 validated p.R192H 0.000 7 0.000 20 0.450 236 51.6% benign(0.014) deleterious(0.04) neutral(0.349) superfamily_P-loop containing nucleoside triphosphate hydrolases CXXC11 285093 genome.wustl.edu 37 2 242814257 242814257 + Missense_Mutation SNP A A G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_173821.2 +1 validated p.R184G 0.000 4 0.000 13 0.462 0 - possibly_damaging(0.485) tolerated(0.34) neutral(0.184) NULL CHL1 10752 genome.wustl.edu 37 3 432751 432751 + Silent SNP C C A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef ENST00000445697 +1 known p.P87H 0.280 114 0% 99 42.4% 0 - - - - HMMSmart_SM00060,superfamily_Fibronectin type III PRRT3 285368 genome.wustl.edu 37 3 9991717 9991717 + Missense_Mutation SNP C C A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_207351.3 -1 validated p.R28M 0.250 37 0% 40 62.5% 0 - possibly_damaging(0.677) deleterious(0) deleterious(0.685) NULL MKRN2 23609 genome.wustl.edu 37 3 12610446 12610446 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_014160.3 +1 provisional p.P33 0.782 90 0% 119 37.8% 28 50% - - - HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1 GRIP2 80852 genome.wustl.edu 37 3 14537992 14537992 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001080423.1 -1 provisional p.R1017Q 0.004 9 0.000 15 0.333 1 0% - - - superfamily_PDZ domain-like CNOT10 25904 genome.wustl.edu 37 3 32750219 32750219 + Missense_Mutation SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_015442.1 +1 provisional p.Y113H 1.000 135 0% 117 43.6% 20 45% possibly_damaging(0.805) tolerated(0.29) neutral(0.332) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like TRANK1 9881 genome.wustl.edu 37 3 36898034 36898034 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_014831.2 -1 provisional p.A466V 0.802 276 0% 424 44.6% 0 - possibly_damaging(0.604) deleterious(0) deleterious(0.654) NULL SLC25A38 54977 genome.wustl.edu 37 3 39431010 39431010 + Missense_Mutation SNP C C A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_017875.2 +1 reviewed p.L32M 0.992 146 0% 266 41% 94 59.5% benign(0.03) tolerated(0.21) neutral(0.045) superfamily_Mitoch_carrier,HMMPfam_Mito_carr KIF15 56992 genome.wustl.edu 37 3 44856496 44856496 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef ENST00000453693 +1 known p.R12* 0.866 160 0% 216 39.8% 9 88.8% benign(0.011) deleterious(0.01) neutral(0.406) NULL NBEAL2 23218 genome.wustl.edu 37 3 47047676 47047676 + Nonsense_Mutation SNP T T A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef ENST00000443829 +1 known p.C682* 1.000 26 0% 24 33.3% 31 48.3% probably_damaging(0.979) deleterious(0) deleterious(0.867) HMMPfam_Beach,superfamily_BEACH domain,superfamily_WD40 repeat-like COL7A1 1294 genome.wustl.edu 37 3 48613155 48613155 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_000094.3 -1 reviewed p.E1961 0.406 25 0% 35 57.1% 1 0% - - - NULL CELSR3 1951 genome.wustl.edu 37 3 48696892 48696892 + Missense_Mutation SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001407.2 -1 reviewed p.D1059G 1.000 190 0% 214 45.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like CCDC36 339834 genome.wustl.edu 37 3 49294000 49294000 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001135197.1 +1 validated p.C357Y 0.000 203 0% 246 14.6% 0 - possibly_damaging(0.7) deleterious(0) deleterious(0.696) NULL ABHD6 57406 genome.wustl.edu 37 3 58260449 58260449 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_020676.5 +1 validated p.A196 0.000 127 0% 213 39.9% 3 66.6% - - - HMMPfam_Abhydrolase_1,superfamily_SSF53474 ABHD6 57406 genome.wustl.edu 37 3 58279485 58279485 + Missense_Mutation SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_020676.5 +1 validated p.L336P 0.984 58 0% 77 50.6% 8 50% benign(0.139) tolerated(0.05) neutral(0.357) NULL CNTN3 5067 genome.wustl.edu 37 3 74420383 74420383 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_020872.1 -1 validated p.L208 0.014 75 0% 78 14.1% 0 - - - - HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin GBE1 2632 genome.wustl.edu 37 3 81586221 81586221 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef ENST00000264326 -1 known p.W548* 1.000 84 0% 87 29.9% 92 0% - - - HMMSmart_SM00642,superfamily_(Trans)glycosidases NFKBIZ 64332 genome.wustl.edu 37 3 101575921 101575921 + Missense_Mutation SNP G G T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_031419.2 +1 reviewed p.R610L 1.000 284 0% 281 40.2% 6 33.3% possibly_damaging(0.603) tolerated(0.2) neutral(0.258) HMMPfam_Ank,superfamily_Ankyrin repeat CCDC54 84692 genome.wustl.edu 37 3 107097143 107097143 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_032600.2 +1 provisional p.P237S 0.000 346 0% 411 15.3% 0 - benign(0) tolerated(1) - NULL CD96 10225 genome.wustl.edu 37 3 111263921 111263921 + Silent SNP A A G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_198196.2 +1 reviewed p.E30 0.015 229 0% 285 41.1% 3 0% - - - HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin BOC 91653 genome.wustl.edu 37 3 112999472 112999472 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_033254.2 +1 validated p.S757N 1.000 109 0% 133 42.1% 9 55.5% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III WDR52 55779 genome.wustl.edu 37 3 113127958 113127958 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_018338.3 -1 validated p.H295 1.000 238 0% 383 39.4% 3 33.3% - - - HMMSmart_WD40,superfamily_WD40_like KIAA2018 205717 genome.wustl.edu 37 3 113379312 113379312 + Missense_Mutation SNP G G T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001009899.2 -1 validated p.S406Y 1.000 206 0% 298 16.8% 2 0% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL KIAA1407 57577 genome.wustl.edu 37 3 113761664 113761664 + Missense_Mutation SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_020817.1 -1 predicted p.T101A 0.991 185 0.5% 227 40.1% 0 - benign(0.005) tolerated(0.28) neutral(0.032) NULL ZBTB20 26137 genome.wustl.edu 37 3 114070044 114070044 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_015642.4 -1 validated p.R221H 1.000 69 0% 81 48.1% 0 - possibly_damaging(0.646) deleterious(0) deleterious(0.671) NULL GOLGB1 2804 genome.wustl.edu 37 3 121386334 121386334 + Missense_Mutation SNP C C A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_004487.3 -1 validated p.E3176D 1.000 115 0% 237 44.3% 111 54.9% possibly_damaging(0.495) tolerated(0.22) neutral(0.207) NULL ZNF148 7707 genome.wustl.edu 37 3 124998006 124998006 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_021964.2 -1 validated p.T182M 1.000 203 0% 194 39.7% 15 26.6% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 CCDC37 348807 genome.wustl.edu 37 3 126137497 126137497 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_182628.2 +1 validated p.T177M 0.001 19 0% 10 50% 0 - benign(0.002) tolerated(0.19) neutral(0.050) NULL IFT122 55764 genome.wustl.edu 37 3 129214403 129214403 + Missense_Mutation SNP C C A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_052985.2 +1 reviewed p.L772I 1.000 102 0% 101 48.5% 42 50% benign(0.418) tolerated(0.15) neutral(0.377) NULL ASTE1 28990 genome.wustl.edu 37 3 130743356 130743356 + Missense_Mutation SNP A A C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_014065.2 -1 validated p.H265Q 0.219 99 0% 160 42.5% 3 100% benign(0) tolerated(0.66) neutral(0.003) NULL PCCB 5096 genome.wustl.edu 37 3 136035818 136035818 + Silent SNP C C A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_000532.4 +1 reviewed p.P334 0.990 193 0% 297 46.8% 145 56.5% - - - HMMPfam_Carboxyl_trans,superfamily_SSF52096 CLDN18 51208 genome.wustl.edu 37 3 137729080 137729080 + Missense_Mutation SNP A A G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_016369.3 +1 validated p.T5A 0.097 31 0% 45 33.3% 0 - benign(0) tolerated(0.31) neutral(0.027) HMMPfam_PMP22_Claudin COPB2 9276 genome.wustl.edu 37 3 139076709 139076709 + Missense_Mutation SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_004766.2 -1 validated p.D906G 1.000 89 0% 68 39.7% 240 45.8% benign(0.052) deleterious(0) neutral(0.448) NULL ZIC1 7545 genome.wustl.edu 37 3 147128502 147128502 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_003412.3 +1 reviewed p.N201 1.000 23 0% 39 48.7% 0 - - - - NULL SI 6476 genome.wustl.edu 37 3 164755764 164755764 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001041.3 -1 reviewed p.A784T 0.357 94 0% 89 12.4% 0 - benign(0.062) tolerated(0.59) neutral(0.009) HMMPfam_Glyco_hydro_31 SERPINI1 5274 genome.wustl.edu 37 3 167512574 167512575 + Frame_Shift_Del DEL CT CT - novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001122752.1 +1 reviewed p.S282fs 1.000:1.000 - - - - - - - - - HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins PRKCI 5584 genome.wustl.edu 37 3 169981188 169981188 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_002740.5 +1 reviewed p.R112H 1.000 108 0% 134 35.8% 19 47.3% possibly_damaging(0.443) tolerated(0.13) neutral(0.397) NULL PIK3CA 5290 genome.wustl.edu 37 3 178916936 178916936 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_006218.2 +1 reviewed p.R108H 1.000 183 0.5% 214 39.3% 3 100% possibly_damaging(0.945) tolerated(0.06) deleterious(0.712) HMMPfam_PI3K_p85B,HMMSmart_PI3K_p85B,superfamily_SSF54236 PIK3CA 5290 genome.wustl.edu 37 3 178922306 178922306 + Missense_Mutation SNP G G C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_006218.2 +1 reviewed p.G359R 1.000 123 0% 149 43% 5 40% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_C2,HMMPfam_PI3K_C2,HMMSmart_PI3K_C2,superfamily_C2_CaLB PEX5L 51555 genome.wustl.edu 37 3 179537733 179537733 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_016559.1 -1 provisional p.A285V 1.000 119 0% 151 25.2% 0 - possibly_damaging(0.903) tolerated(0.25) neutral(0.395) NULL FAM131A 131408 genome.wustl.edu 37 3 184062419 184062419 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_144635.4 +1 validated p.C223 1.000 77 0% 99 44.4% 13 30.7% - - - NULL RTP1 132112 genome.wustl.edu 37 3 186917621 186917621 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_153708.2 +1 validated p.R185 0.968 57 0% 68 51.5% 0 - - - - NULL MB21D2 151963 genome.wustl.edu 37 3 192517074 192517074 + Missense_Mutation SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_178496.3 -1 validated p.S193G 1.000 226 0% 186 44.1% 0 - benign(0) tolerated(0.19) neutral(0.050) NULL TNK2 10188 genome.wustl.edu 37 3 195608985 195608985 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001010938.1 -1 reviewed p.R338Q 1.000 38 0% 46 32.6% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like WHSC2 7469 genome.wustl.edu 37 4 1985399 1985399 + Missense_Mutation SNP C C A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_005663.3 -1 reviewed p.Q453H 1.000 33 0% 26 26.9% 72 41.6% probably_damaging(0.983) tolerated(0.38) neutral(0.447) NULL WHSC2 7469 genome.wustl.edu 37 4 2010661 2010661 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_005663.3 -1 reviewed p.T20M 1.000 6 0.000 10 0.600 42 45.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL STIM2 57620 genome.wustl.edu 37 4 27019390 27019390 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_020860.3 +1 reviewed p.R603H 0.990 315 0% 469 40.7% 27 55.5% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL WDR19 57728 genome.wustl.edu 37 4 39230268 39230268 + Missense_Mutation SNP A A G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_025132.3 +1 reviewed p.D647G 0.002 336 0% 429 41.7% 9 44.4% benign(0.055) tolerated(0.23) neutral(0.045) NULL RFC1 5981 genome.wustl.edu 37 4 39310319 39310319 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_002913.3 -1 reviewed p.A608T 1.000 375 0% 466 44% 22 54.5% probably_damaging(0.975) tolerated(0.15) deleterious(0.658) superfamily_SSF52540 DCUN1D4 23142 genome.wustl.edu 37 4 52757987 52757987 + Missense_Mutation SNP A A G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001040402.1 +1 validated p.Q159R 1.000 254 0% 188 42.6% 11 9% possibly_damaging(0.723) deleterious(0.05) deleterious(0.608) NULL LNX1 84708 genome.wustl.edu 37 4 54374173 54374173 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001126328.1 -1 reviewed p.G201D 0.943 82 0% 98 39.8% 8 37.5% possibly_damaging(0.712) deleterious(0.01) deleterious(0.663) NULL EPHA5 2044 genome.wustl.edu 37 4 66356292 66356292 + Missense_Mutation SNP G G T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_004439.5 -1 reviewed p.A402E 1.000 111 0% 139 44.6% 0 - benign(0.062) tolerated(0.42) neutral(0.018) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III SHROOM3 57619 genome.wustl.edu 37 4 77660104 77660104 + Missense_Mutation SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_020859.3 +1 validated p.Y260H 1.000 108 0% 109 11.9% 8 25% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SLC10A6 345274 genome.wustl.edu 37 4 87754552 87754552 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_197965.2 -1 validated p.V135M 0.976 176 0% 263 45.6% 0 - benign(0.004) tolerated(0.06) neutral(0.323) HMMPfam_SBF AFF1 4299 genome.wustl.edu 37 4 88047479 88047479 + Silent SNP G G T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_005935.2 +1 validated p.S927 0.000 86 0% 115 47% 10 70% - - - HMMPfam_AF-4 SPP1 6696 genome.wustl.edu 37 4 88902824 88902824 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001040058.1 +1 validated p.T138 0.003 192 0% 279 47% 43 23.2% - - - HMMPfam_Osteopontin,HMMSmart_SM00017 UNC5C 8633 genome.wustl.edu 37 4 96140217 96140217 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_003728.2 -1 reviewed p.S516 0.969 193 0% 307 44.6% 0 - - - - NULL PDHA2 5161 genome.wustl.edu 37 4 96762429 96762429 + Silent SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_005390.4 +1 validated p.R376 0.999 196 0% 234 44.9% 0 - - - - superfamily_SSF52518 H2AFZ 3015 genome.wustl.edu 37 4 100870532 100870532 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_002106.3 -1 reviewed p.G31 1.000 39 0% 40 45% 2425 41.7% - - - HMMSmart_SM00414,HMMPfam_Histone,superfamily_Histone-fold MANBA 4126 genome.wustl.edu 37 4 103644180 103644180 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_005908.3 -1 reviewed p.V133M 0.000 133 0.8% 158 39.2% 8 100% benign(0.003) tolerated(0.21) neutral(0.044) superfamily_Gal_bind_like TET2 54790 genome.wustl.edu 37 4 106156398 106156398 + Silent SNP A A G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001127208.1 +1 validated p.E433 1.000 266 0% 382 40.1% 1 100% - - - NULL COL25A1 84570 genome.wustl.edu 37 4 109766364 109766364 + Missense_Mutation SNP G G C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_198721.1 -1 validated p.P520R 0.998 390 0% 544 44.3% 0 - probably_damaging(0.997) - - NULL SYNPO2 171024 genome.wustl.edu 37 4 119951232 119951232 + Silent SNP A A G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef ENST00000504178 +1 known p.S386G 0.001 196 0% 295 41.7% 0 - - - - NULL TNIP3 79931 genome.wustl.edu 37 4 122068325 122068325 + Missense_Mutation SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001128843.1 -1 validated p.Q205R 0.999 155 0% 110 50.9% 0 - possibly_damaging(0.595) tolerated(0.5) neutral(0.216) NULL INPP4B 8821 genome.wustl.edu 37 4 143324148 143324148 + Silent SNP A A G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef ENST00000507462 -1 known p.*39R 1.000 73 0% 141 47.5% 1 100% - - - NULL ARHGAP10 79658 genome.wustl.edu 37 4 148886206 148886206 + Silent SNP G G A rs138656417 by1000genomes TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef ENST00000507661 +1 known p.D172N 0.909 112 0% 53 43.4% 7 28.5% - - - HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP PET112 5188 genome.wustl.edu 37 4 152622627 152622627 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_004564.2 -1 validated p.A351T 0.000 52 0% 100 43% 29 27.5% benign(0) tolerated(0.45) neutral(0.012) HMMPfam_GatB MFAP3L 9848 genome.wustl.edu 37 4 170913336 170913336 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_021647.6 -1 validated p.R141 0.771 183 0% 247 42.5% 31 48.3% - - - HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin ADAM29 11086 genome.wustl.edu 37 4 175897577 175897577 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001130703.1 +1 reviewed p.G301* 0.000 281 0.4% 368 44.6% 0 - - - - "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" NEIL3 55247 genome.wustl.edu 37 4 178256851 178256851 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef ENST00000513321 +1 known p.R56W 0.999 125 0% 89 49.4% 3 100% benign(0.016) tolerated(0.11) neutral(0.272) NULL TLR3 7098 genome.wustl.edu 37 4 187000132 187000132 + Missense_Mutation SNP T T G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_003265.2 +1 reviewed p.F194V 1.000 51 0% 70 51.4% 1 100% benign(0.004) deleterious(0.01) neutral(0.406) superfamily_SSF52058 FAT1 2195 genome.wustl.edu 37 4 187630273 187630273 + Missense_Mutation SNP T T A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_005245.3 -1 reviewed p.I237F 0.537 244 0% 353 42.5% 6 66.6% benign(0) tolerated(0.8) neutral(0.001) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like SLC6A19 340024 genome.wustl.edu 37 5 1216894 1216894 + Silent SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef ENST00000452116 +1 known p.S339 0.000 26 0% 59 25.4% 0 - - - - NULL TERT 7015 genome.wustl.edu 37 5 1282723 1282723 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_198253.2 -1 reviewed p.P530 0.036 20 0% 69 27.5% 0 - - - - NULL KIAA0947 23379 genome.wustl.edu 37 5 5462323 5462326 + Frame_Shift_Del DEL TCTC TCTC - novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 TCTC TCTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_015325.1 +1 validated p.S960fs 0.212:0.200:0.157:0.095 - - - - - - - - - NULL SRD5A1 6715 genome.wustl.edu 37 5 6656237 6656237 + Missense_Mutation SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef ENST00000513117 +1 known p.S114P 0.925 46 0% 81 42% 15 53.3% unknown(0) - - NULL MARCH6 10299 genome.wustl.edu 37 5 10382056 10382056 + Splice_Site SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_005885.2 +1 provisional e4+1 1.000 330 0% 302 19.9% 0 - - - - - DNAH5 1767 genome.wustl.edu 37 5 13721312 13721312 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001369.2 -1 reviewed p.E4026K 1.000 168 0% 216 25.9% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Dynein_heavy SPEF2 79925 genome.wustl.edu 37 5 35740302 35740302 + Missense_Mutation SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_024867.3 +1 validated p.F1088S 1.000 382 0% 494 40.3% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL RAB3C 115827 genome.wustl.edu 37 5 58147035 58147035 + Missense_Mutation SNP A A G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_138453.2 +1 provisional p.K181E 1.000 275 0% 373 41.8% 0 - probably_damaging(0.958) tolerated(1) neutral(0.402) HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 SREK1IP1 285672 genome.wustl.edu 37 5 64036992 64036992 + Nonsense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_173829.3 -1 validated p.R33* 1.000 136 0% 112 27.7% 20 15% - - - NULL TRIM23 373 genome.wustl.edu 37 5 64905096 64905096 + Missense_Mutation SNP G G T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001656.3 -1 reviewed p.L340I 1.000 146 0% 209 33% 4 100% possibly_damaging(0.942) tolerated(0.58) neutral(0.392) HMMSmart_SM00502 MAP1B 4131 genome.wustl.edu 37 5 71482547 71482547 + Missense_Mutation SNP T T A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_005909.3 +1 validated p.F159Y 1.000 178 0% 199 42.2% 1 100% benign(0) tolerated(1) - NULL MAP1B 4131 genome.wustl.edu 37 5 71495910 71495910 + Missense_Mutation SNP C C A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_005909.3 +1 validated p.T2243N 1.000 529 0% 601 39.9% 0 - unknown(0) tolerated(0.26) - NULL TNPO1 3842 genome.wustl.edu 37 5 72192976 72192976 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_002270.3 +1 reviewed p.T779I 1.000 54 0% 70 14.3% 50 0% possibly_damaging(0.439) deleterious(0.01) deleterious(0.548) superfamily_ARM repeat PDE8B 8622 genome.wustl.edu 37 5 76714070 76714070 + Missense_Mutation SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_003719.2 +1 validated p.L643S 1.000 65 0% 65 53.8% 1 100% possibly_damaging(0.592) tolerated(0.11) deleterious(0.476) HMMPfam_PDEase_I,HMMSmart_SM00471,superfamily_HD-domain/PDEase-like CMYA5 202333 genome.wustl.edu 37 5 79041213 79041213 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_153610.3 +1 validated p.A3635T 1.000 258 0% 359 44.8% 0 - probably_damaging(0.974) deleterious(0.02) deleterious(0.799) NULL SERINC5 256987 genome.wustl.edu 37 5 79498729 79498729 + Silent SNP G G T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_178276.5 -1 validated p.T57 0.013 75 0% 110 41.8% 30 36.6% - - - HMMPfam_Serinc RASA1 5921 genome.wustl.edu 37 5 86685341 86685341 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_002890.1 +1 reviewed p.Q1019 1.000 235 0% 273 41% 32 40.6% - - - HMMSmart_SM00323,superfamily_GTPase activation domain GAP ARRDC3 57561 genome.wustl.edu 37 5 90672560 90672560 + Nonsense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_020801.2 -1 validated p.R130* 1.000 87 0% 68 44.1% 24 16.6% - - - HMMPfam_Arrestin_N,superfamily_Ig_E-set GLRX 2745 genome.wustl.edu 37 5 95152248 95152248 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001118890.1 -1 validated p.T97M 0.000 142 0% 241 41.9% 42 61.9% benign(0.003) tolerated(0.12) neutral(0.261) superfamily_Thioredoxin-like CAST 831 genome.wustl.edu 37 5 96089823 96089823 + Missense_Mutation SNP A A T rs77616199 TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001750.5 +1 reviewed p.E528D 0.994 96 0% 96 33.3% 28 32.1% probably_damaging(0.971) deleterious(0.02) deleterious(0.796) HMMPfam_Calpain_inhib ERAP1 51752 genome.wustl.edu 37 5 96124288 96124288 + Missense_Mutation SNP A A G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_016442.3 -1 validated p.V542A 0.968 135 0% 209 32.5% 25 20% possibly_damaging(0.875) tolerated(0.15) deleterious(0.581) NULL CAMK4 814 genome.wustl.edu 37 5 110814130 110814130 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001744.3 +1 reviewed p.F251 1.000 252 0% 250 12% 0 - - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase APC 324 genome.wustl.edu 37 5 112179432 112179432 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_000038.4 +1 reviewed p.R2714H 0.631 198 0% 285 46.7% 17 52.9% benign(0.323) tolerated(0.12) neutral(0.362) HMMPfam_EB1_binding AQPEP 206338 genome.wustl.edu 37 5 115327946 115327946 + Missense_Mutation SNP A A T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_173800.4 +1 validated p.Y411F 0.000 146 0% 194 46.9% 0 - benign(0) tolerated(0.52) neutral(0.009) "HMMPfam_Peptidase_M1,superfamily_Metalloproteases (""zincins"") catalytic domain" DTWD2 285605 genome.wustl.edu 37 5 118280305 118280305 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_173666.2 -1 validated p.A86 0.164 116 0% 160 45.6% 1 100% - - - HMMPfam_DTW DMXL1 1657 genome.wustl.edu 37 5 118482611 118482611 + Missense_Mutation SNP C C G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_005509.4 +1 validated p.H883Q 0.979 108 0% 108 35.2% 0 - benign(0.001) tolerated(0.12) neutral(0.261) superfamily_WD40 repeat-like HSD17B4 3295 genome.wustl.edu 37 5 118813175 118813175 + Missense_Mutation SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_000414.2 +1 reviewed p.M138T 1.000 231 0.4% 210 43.3% 86 56.9% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_adh_short,superfamily_NAD(P)-bd REEP2 51308 genome.wustl.edu 37 5 137781176 137781176 + Silent SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_016606.2 +1 provisional p.S193 0.033 96 0% 89 49.4% 5 60% - - - NULL CXXC5 51523 genome.wustl.edu 37 5 139060428 139060428 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_016463.7 +1 provisional p.A107V 0.981 9 0.000 18 0.444 4 25% benign(0.083) deleterious(0.04) neutral(0.355) NULL PFDN1 5201 genome.wustl.edu 37 5 139625615 139625615 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_002622.4 -1 reviewed p.V105I 1.000 12 0.000 8 0.625 131 39.6% benign(0.119) deleterious(0.04) neutral(0.358) HMMPfam_Prefoldin_2,superfamily_Prefoldin PCDHA7 56141 genome.wustl.edu 37 5 140215477 140215477 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_018910.2 +1 reviewed p.A503 0.885 43 0% 73 45.2% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA9 9752 genome.wustl.edu 37 5 140230194 140230194 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_031857.1 +1 reviewed p.C705Y 0.998 51 0% 62 38.7% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL PCDHB7 56129 genome.wustl.edu 37 5 140554340 140554340 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_018940.2 +1 reviewed p.V642M 0.402 37 0% 58 31% 2 0% possibly_damaging(0.932) tolerated(0.05) deleterious(0.724) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like TAF7 6879 genome.wustl.edu 37 5 140698982 140698982 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_005642.2 -1 reviewed p.G210 1.000 206 0% 233 36.1% 157 48.4% - - - NULL DIAPH1 1729 genome.wustl.edu 37 5 140908375 140908375 + Missense_Mutation SNP T T A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_005219.4 -1 reviewed p.E971V 1.000 312 0% 596 41.8% 76 51.3% unknown(0) deleterious(0.03) - HMMSmart_SM00498,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain) AFAP1L1 134265 genome.wustl.edu 37 5 148689625 148689625 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_152406.2 +1 validated p.R285H 1.000 41 0% 79 43% 1 0% benign(0.035) deleterious(0) neutral(0.447) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like PDGFRB 5159 genome.wustl.edu 37 5 149510217 149510217 + Nonsense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_002609.3 -1 reviewed p.R418* 0.161 75 0% 104 46.2% 7 0% - - - NULL TCOF1 6949 genome.wustl.edu 37 5 149754973 149754973 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001135243.1 +1 reviewed p.G520 0.006 70 0% 111 45.9% 23 47.8% - - - HMMPfam_Treacle C5orf54 63920 genome.wustl.edu 37 5 159821611 159821611 + Missense_Mutation SNP C C A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_022090.3 -1 validated p.R296M 1.000 282 0% 327 43.7% 5 20% probably_damaging(0.996) deleterious(0.03) deleterious(0.826) NULL STK10 6793 genome.wustl.edu 37 5 171479987 171479987 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_005990.3 -1 reviewed p.E904 1.000 36 0% 76 26.3% 4 100% - - - NULL STK10 6793 genome.wustl.edu 37 5 171523524 171523524 + Missense_Mutation SNP C C A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_005990.3 -1 reviewed p.R304L 1.000 166 0% 231 48.1% 5 0% possibly_damaging(0.743) tolerated(0.08) deleterious(0.573) superfamily_Kinase_like CDHR2 54825 genome.wustl.edu 37 5 176008463 176008463 + Silent SNP G G C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_017675.4 +1 reviewed p.G646 1.000 26 0% 64 50% 0 - - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin ENSG00000221243 0 genome.wustl.edu 37 6 3177623 3177623 + RNA SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef ENST00000408316 +1 novel NULL 1.000 81 0% 92 39.1% 5 0% - - - - CDYL 9425 genome.wustl.edu 37 6 4954427 4954427 + RNA SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NR_026590.1 +1 reviewed NULL 0.313 14 0% 29 65.5% 37 37.8% - - - - CAP2 10486 genome.wustl.edu 37 6 17421853 17421853 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_006366.2 +1 reviewed p.A23T 0.986 185 0% 288 39.6% 6 33.3% benign(0.001) tolerated(0.41) neutral(0.015) HMMPfam_CAP_N NUP153 9972 genome.wustl.edu 37 6 17628942 17628942 + Missense_Mutation SNP G G T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_005124.2 -1 reviewed p.S1163Y 0.745 86 0% 94 20.2% 44 31.8% possibly_damaging(0.654) deleterious(0.02) deleterious(0.613) NULL HIST1H3A 8350 genome.wustl.edu 37 6 26020964 26020964 + Missense_Mutation SNP C C A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_003529.2 +1 reviewed p.L83M 1.000 47 0% 76 38.2% 1 0% probably_damaging(0.994) - - HMMSmart_SM00428,HMMPfam_Histone,superfamily_Histone-fold HIST1H2BD 3017 genome.wustl.edu 37 6 26158417 26158417 + Missense_Mutation SNP C C A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_021063.2 +1 reviewed p.S7Y 0.973 137 0% 176 45.5% 92 46.7% benign(0.336) deleterious(0) deleterious(0.550) superfamily_Histone-fold BTN2A2 10385 genome.wustl.edu 37 6 26388359 26388359 + Silent SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_006995.3 +1 reviewed p.G187 0.000 176 0% 253 38.7% 1 100% - - - HMMPfam_C2-set_2,superfamily_Immunoglobulin GABBR1 2550 genome.wustl.edu 37 6 29572279 29572279 + Missense_Mutation SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001470.2 -1 reviewed p.I902V 1.000 462 0.2% 949 14.2% 0 - probably_damaging(0.97) deleterious(0.01) deleterious(0.818) NULL GTF2H4 2968 genome.wustl.edu 37 6 30879922 30879922 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001517.4 +1 validated p.T319 0.000 60 0% 65 23.1% 56 30.3% - - - HMMPfam_Tfb2 NOTCH4 4855 genome.wustl.edu 37 6 32170167 32170167 + Silent SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_004557.3 -1 reviewed p.S1147 0.079 31 0% 36 41.7% 2 0% - - - HMMSmart_SM00181,superfamily_EGF/Laminin NOTCH4 4855 genome.wustl.edu 37 6 32191659 32191661 + In_Frame_Del DEL AGC AGC - rs72110219 TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 AGC AGC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_004557.3 -1 reviewed p.L16in_frame_del 0.003:0.005:0.005 - - - - - - - - - NULL FANCE 2178 genome.wustl.edu 37 6 35423599 35423599 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_021922.2 +1 reviewed p.S108 0.000 50 0% 69 53.6% 3 66.6% - - - NULL MDGA1 266727 genome.wustl.edu 37 6 37622165 37622165 + Missense_Mutation SNP C C A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_153487.3 -1 validated p.Q289H 0.993 55 0% 87 51.7% 0 - probably_damaging(0.964) tolerated(0.23) neutral(0.448) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin MOCS1 4337 genome.wustl.edu 37 6 39880039 39880039 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001075098.3 -1 reviewed p.R317H 1.000 65 0% 139 21.6% 4 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Mob_synth_C,superfamily_SSF102114 PGC 5225 genome.wustl.edu 37 6 41710063 41710063 + Silent SNP G G T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_002630.3 -1 reviewed p.A204 0.006 37 0% 70 32.9% 0 - - - - HMMPfam_Asp,superfamily_Pept_Aspartic CNPY3 10695 genome.wustl.edu 37 6 42902285 42902285 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_006586.3 +1 validated p.T75M 0.965 79 0% 133 47.4% 122 45% probably_damaging(1) tolerated(0.17) deleterious(0.559) NULL PPP2R5D 5528 genome.wustl.edu 37 6 42976484 42976484 + Silent SNP G G T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_006245.2 +1 reviewed p.P360 1.000 24 0% 53 52.8% 57 0% - - - HMMPfam_B56 KLC4 89953 genome.wustl.edu 37 6 43038099 43038099 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_201523.1 +1 validated p.A314V 1.000 45 0% 61 32.8% 24 54.1% benign(0.431) tolerated(0.06) neutral(0.463) HMMPfam_TPR_1,PatternScan_KINESIN_LIGHT,HMMSmart_SM00028,superfamily_TPR-like CUL9 23113 genome.wustl.edu 37 6 43166418 43166418 + Missense_Mutation SNP C C A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_015089.2 +1 validated p.P959T 1.000 229 0% 370 43.5% 2 50% benign(0.205) tolerated(0.12) neutral(0.281) superfamily_ARM repeat VEGFA 7422 genome.wustl.edu 37 6 43748592 43748592 + Splice_Site SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001025366.2 +1 reviewed e6+1 0.000 45 0% 66 30.3% 3 66.6% - - - - HSP90AB1 3326 genome.wustl.edu 37 6 44219919 44219921 + In_Frame_Del DEL AGA AGA - novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_007355.2 +1 provisional p.K552in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_HSP90 DPPA5 340168 genome.wustl.edu 37 6 74063740 74063740 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001025290.1 -1 provisional p.R43Q 0.508 73 0% 64 40.6% 0 - benign(0.122) tolerated(0.11) neutral(0.282) superfamily_SSF54791 EEF1A1 1915 genome.wustl.edu 37 6 74228893 74228894 + Frame_Shift_Del DEL GA GA - novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001402.5 -1 reviewed p.S128fs 1.000:1.000 - - - - - - - - - HMMPfam_GTP_EFTU,superfamily_P-loop containing nucleoside triphosphate hydrolases KIAA1009 22832 genome.wustl.edu 37 6 84865162 84865162 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_014895.2 -1 validated p.A950V 1.000 223 0% 250 40.8% 6 66.6% probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL TBX18 9096 genome.wustl.edu 37 6 85457773 85457773 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001080508.1 -1 provisional p.P268 0.000 85 0% 85 17.6% 24 62.5% - - - HMMPfam_T-box,HMMSmart_TBOX,superfamily_P53_like_DNA_bnd MDN1 23195 genome.wustl.edu 37 6 90486413 90486413 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_014611.1 -1 provisional p.A576V 1.000 57 0% 63 44.4% 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases USP45 85015 genome.wustl.edu 37 6 99936568 99936568 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001080481.1 -1 provisional p.A203T 1.000 133 0% 108 44.4% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_UCH,PatternScan_UCH_2_1,superfamily_Cysteine proteinases ASCC3 10973 genome.wustl.edu 37 6 101049705 101049705 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_006828.2 -1 validated p.R1762C 0.986 168 0% 193 40.9% 26 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PRDM1 639 genome.wustl.edu 37 6 106553486 106553486 + Missense_Mutation SNP C C A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001198.3 +1 reviewed p.P484H 0.504 65 0% 93 41.9% 7 28.5% benign(0.003) deleterious(0) neutral(0.445) NULL SCML4 256380 genome.wustl.edu 37 6 108067947 108067947 + Nonsense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_198081.3 -1 validated p.Q145* 1.000 57 0% 135 50.4% 0 - - - - NULL MOXD1 26002 genome.wustl.edu 37 6 132649650 132649650 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_015529.2 -1 validated p.S249 0.214 95 0% 131 41.2% 36 30.5% - - - HMMPfam_Cu2_monooxygen,superfamily_PHM/PNGase F BCLAF1 9774 genome.wustl.edu 37 6 136599727 136599727 + Missense_Mutation SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_014739.2 -1 reviewed p.N98D 1.000 276 0% 366 11.7% 36 0% unknown(0) deleterious(0.02) - NULL ADAT2 134637 genome.wustl.edu 37 6 143753713 143753713 + Nonsense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_182503.2 -1 validated p.R130* 1.000 147 0% 194 43.3% 5 60% - - - superfamily_Cytidine deaminase-like AKAP12 9590 genome.wustl.edu 37 6 151673459 151673459 + Missense_Mutation SNP A A C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_005100.3 +1 reviewed p.E1311D 0.000 291 0% 449 43.2% 65 53.8% benign(0.001) tolerated(0.47) neutral(0.011) NULL AKAP12 9590 genome.wustl.edu 37 6 151673606 151673606 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_005100.3 +1 reviewed p.H1360 0.000 275 0% 456 42.1% 74 31% - - - NULL TIAM2 26230 genome.wustl.edu 37 6 155450763 155450763 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_012454.3 +1 reviewed p.H136Y 0.988 64 0% 119 38.7% 3 66.6% benign(0.01) tolerated(0.31) neutral(0.028) NULL TMEM181 57583 genome.wustl.edu 37 6 158994489 158994489 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_020823.1 +1 validated p.H153Y 1.000 11 0% 21 28.6% 5 40% probably_damaging(0.969) tolerated(0.19) neutral(0.461) NULL FNDC1 84624 genome.wustl.edu 37 6 159653527 159653527 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef ENST00000329629 +1 known p.R557C 0.000 40 0% 28 39.3% 0 - - - - NULL IGF2R 3482 genome.wustl.edu 37 6 160490922 160490922 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_000876.2 +1 reviewed p.A1425 0.062 38 0% 57 42.1% 33 39.3% - - - HMMPfam_CIMR,superfamily_Mannose 6-phosphate receptor domain SLC22A1 6580 genome.wustl.edu 37 6 160557671 160557671 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_003057.2 +1 reviewed p.L350 1.000 128 0% 280 47.9% 0 - - - - HMMPfam_MFS_1,superfamily_MFS general substrate transporter KIF25 3834 genome.wustl.edu 37 6 168439259 168439259 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_030615.2 +1 reviewed p.S115N 0.000 55 0% 75 46.7% 0 - benign(0.003) tolerated(0.06) neutral(0.323) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases FAM120B 84498 genome.wustl.edu 37 6 170626612 170626612 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_032448.1 +1 provisional p.A45V 1.000 128 0% 194 47.4% 21 38% probably_damaging(0.992) deleterious(0.05) deleterious(0.793) superfamily_PIN domain-like INTS1 26173 genome.wustl.edu 37 7 1542632 1542632 + Missense_Mutation SNP G G T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001080453.2 -1 validated p.P85H 0.998 24 0% 35 48.6% 12 25% possibly_damaging(0.46) deleterious(0) deleterious(0.596) NULL USP42 84132 genome.wustl.edu 37 7 6175579 6175579 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_032172.2 +1 validated p.R184W 1.000 37 0% 62 33.9% 8 50% probably_damaging(1) tolerated(0.1) deleterious(0.786) HMMPfam_UCH,superfamily_SSF54001 KDELR2 11014 genome.wustl.edu 37 7 6505874 6505874 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_006854.3 -1 reviewed p.A144 0.016 134 0% 212 54.2% 639 45.2% - - - HMMPfam_ER_lumen_recept C7orf26 79034 genome.wustl.edu 37 7 6634071 6634071 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_024067.2 +1 predicted p.T140 0.985 90 0% 130 45.4% 38 65.7% - - - NULL HNRNPA2B1 3181 genome.wustl.edu 37 7 26232995 26232995 + Splice_Site SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_031243.2 -1 reviewed e10-2 1.000 126 0% 143 49.7% 4 100% - - - - PRR15 222171 genome.wustl.edu 37 7 29606316 29606316 + Missense_Mutation SNP C C A rs112093295 byCluster;by1000genomes TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_175887.2 +1 provisional p.P124H 0.418 7 0.000 7 0.714 78 44.8% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL NOD1 10392 genome.wustl.edu 37 7 30491341 30491341 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_006092.2 -1 reviewed p.P564 0.000 51 0% 57 43.9% 6 16.6% - - - NULL BBS9 27241 genome.wustl.edu 37 7 33312747 33312747 + Missense_Mutation SNP C C G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_198428.2 +1 reviewed p.Q276E 1.000 209 0% 288 39.6% 6 66.6% benign(0.009) tolerated(0.78) neutral(0.002) NULL ANLN 54443 genome.wustl.edu 37 7 36447395 36447395 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_018685.2 +1 validated p.C309Y 0.847 192 0% 191 42.9% 25 48% benign(0) tolerated(1) - NULL CDK13 8621 genome.wustl.edu 37 7 40134246 40134246 + Silent SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_003718.4 +1 reviewed p.S1402 1.000 215 0.5% 262 40.8% 46 30.4% - - - NULL NPC1L1 29881 genome.wustl.edu 37 7 44556325 44556325 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_013389.2 -1 reviewed p.V1193M 0.999 28 0% 45 37.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Patched,superfamily_SSF82866 TBRG4 9238 genome.wustl.edu 37 7 45143024 45143024 + Nonsense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_004749.2 -1 validated p.Q362* 0.000 11 0% 11 36.4% 111 0% - - - NULL ZNF679 168417 genome.wustl.edu 37 7 63720634 63720634 + Missense_Mutation SNP C C A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_153363.2 +1 validated p.F25L 0.499 279 0.4% 399 38.1% 0 - probably_damaging(0.974) deleterious(0) deleterious(0.861) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) PION 54103 genome.wustl.edu 37 7 76943692 76943692 + Missense_Mutation SNP A A G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_017439.3 -1 validated p.M735T 1.000 152 0% 223 36.8% 4 25% benign(0.137) deleterious(0) neutral(0.456) NULL PTPN12 5782 genome.wustl.edu 37 7 77256691 77256692 + Frame_Shift_Del DEL TG TG - novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_002835.3 +1 reviewed p.V566fs 1.000:0.982 - - - - - - - - - NULL ARPC1B 10095 genome.wustl.edu 37 7 98988864 98988864 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_005720.2 +1 reviewed p.S257 0.999 22 0% 19 68.4% 209 31.5% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like PTCD1 26024 genome.wustl.edu 37 7 99022429 99022429 + Missense_Mutation SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_015545.2 -1 validated p.T576A 0.001 47 0% 39 46.2% 32 53.1% benign(0) tolerated(0.75) neutral(0.002) NULL SRRT 51593 genome.wustl.edu 37 7 100484721 100484721 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_015908.5 +1 validated p.Y625 0.997 225 0% 216 35.6% 187 43.3% - - - NULL MUC17 140453 genome.wustl.edu 37 7 100675644 100675644 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001040105.1 +1 provisional p.P316L 0.000 581 0% 786 41.7% 0 - unknown(0) - - NULL RELN 5649 genome.wustl.edu 37 7 103151406 103151406 + Missense_Mutation SNP G G T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_005045.3 -1 reviewed p.F2722L 1.000 159 0% 181 43.6% 0 - possibly_damaging(0.943) deleterious(0.02) deleterious(0.770) superfamily_Sialidase LAMB4 22798 genome.wustl.edu 37 7 107688460 107688460 + Missense_Mutation SNP C C A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_007356.2 -1 validated p.G1407C 0.000 113 0% 157 40.8% 0 - probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL FLNC 2318 genome.wustl.edu 37 7 128484863 128484863 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001458.4 +1 reviewed p.G1115D 1.000 46 0% 62 45.2% 0 - probably_damaging(0.996) tolerated(0.15) deleterious(0.703) HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin MKLN1 4289 genome.wustl.edu 37 7 131147997 131147998 + Frame_Shift_Del DEL AG AG - novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_013255.4 +1 validated p.R517fs 1.000:1.000 - - - - - - - - - superfamily_Galactose oxidase central domain FAM131B 9715 genome.wustl.edu 37 7 143056691 143056691 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef ENST00000452076 -1 known p.C18 0.001 6 0.000 10 0.400 0 - - - - NULL ZNF862 643641 genome.wustl.edu 37 7 149558747 149558747 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001099220.1 +1 provisional p.R833H 0.980 17 0% 19 52.6% 0 - benign(0.045) deleterious(0.01) neutral(0.408) NULL ASIC3 9311 genome.wustl.edu 37 7 150748903 150748903 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef ENST00000377904 +1 known p.T358M 0.700 24 0% 37 43.2% 0 - benign(0.002) deleterious(0.01) neutral(0.406) NULL SLC4A2 6522 genome.wustl.edu 37 7 150768659 150768659 + Missense_Mutation SNP C C A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_003040.3 +1 validated p.L720M 1.000 20 0% 27 48.1% 16 31.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HCO3_cotransp INSIG1 3638 genome.wustl.edu 37 7 155100008 155100008 + Silent SNP A A G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef ENST00000476756 +1 known p.K220E 0.000 75 0% 123 39.8% 70 51.4% - - - NULL RNF32 140545 genome.wustl.edu 37 7 156437386 156437386 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_030936.2 +1 reviewed p.C70Y 0.000 197 0% 138 35.5% 9 55.5% benign(0.004) tolerated(0.05) neutral(0.345) NULL DLGAP2 9228 genome.wustl.edu 37 8 1497273 1497273 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_004745.3 +1 reviewed p.A138 0.012 12 0% 18 27.8% 0 - - - - NULL AGPAT5 55326 genome.wustl.edu 37 8 6588236 6588236 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_018361.3 +1 reviewed p.D98 1.000 68 0% 74 23% 20 25% unknown(0) - - HMMPfam_Acyltransferase,HMMSmart_PlsC,superfamily_SSF69593 CLDN23 137075 genome.wustl.edu 37 8 8560181 8560181 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_194284.2 +1 validated p.T91 0.002 17 0% 11 54.5% 10 30% - - - HMMPfam_PMP22_Claudin SOX7 83595 genome.wustl.edu 37 8 10583716 10583716 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_031439.2 -1 reviewed p.R233 0.442 36 0% 53 34% 7 57.1% - - - NULL NAT1 9 genome.wustl.edu 37 8 18079747 18079747 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_000662.5 +1 reviewed p.R64Q 0.388 465 0% 631 46.6% 19 47.3% probably_damaging(0.992) deleterious(0.02) deleterious(0.831) HMMPfam_Acetyltransf_2,superfamily_SSF54001 HR 55806 genome.wustl.edu 37 8 21976741 21976741 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_005144.4 -1 reviewed p.A1011 0.663 18 0% 13 38.5% 3 66.6% - - - HMMSmart_SM00558 RHOBTB2 23221 genome.wustl.edu 37 8 22861962 22861962 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_015178.2 +1 validated p.M5I 1.000 57 0% 58 37.9% 2 50% possibly_damaging(0.608) deleterious(0.01) deleterious(0.616) NULL NEFM 4741 genome.wustl.edu 37 8 24771433 24771433 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_005382.2 +1 reviewed p.G43S 0.823 9 0.000 6 0.833 0 - benign(0.003) tolerated(0.83) neutral(0.001) HMMPfam_Filament_head EPHX2 2053 genome.wustl.edu 37 8 27364450 27364450 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001979.4 +1 reviewed p.T200I 1.000 90 0% 156 44.2% 16 56.2% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Hydrolase,superfamily_SSF56784 SCARA3 51435 genome.wustl.edu 37 8 27516260 27516260 + Missense_Mutation SNP G G T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_016240.2 +1 reviewed p.Q191H 1.000 105 0% 131 45.8% 3 33.3% probably_damaging(0.979) tolerated(0.23) neutral(0.463) NULL TEX15 56154 genome.wustl.edu 37 8 30695220 30695220 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_031271.3 -1 validated p.L2477 0.000 293 0% 377 20.4% 0 - - - - NULL PXDNL 137902 genome.wustl.edu 37 8 52320920 52320920 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_144651.4 -1 validated p.P1088 0.205 59 0% 45 33.3% 0 - - - - HMMPfam_An_peroxidase,superfamily_Heme-dependent peroxidases CLVS1 157807 genome.wustl.edu 37 8 62412051 62412053 + In_Frame_Del DEL GAG GAG - rs35623706 byCluster TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_173519.2 +1 validated p.E340in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL RIMS2 9699 genome.wustl.edu 37 8 105001618 105001618 + Missense_Mutation SNP A A G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001100117.1 +1 validated p.M1005V 0.980 177 0.6% 242 44.2% 1 0% benign(0) tolerated(0.7) neutral(0.002) NULL PKHD1L1 93035 genome.wustl.edu 37 8 110439284 110439284 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_177531.4 +1 validated p.E967* 0.000 67 0% 89 55.1% 0 - - - - NULL EXT1 2131 genome.wustl.edu 37 8 119123140 119123140 + Missense_Mutation SNP G G T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_000127.2 -1 reviewed p.P49H 1.000 71 0% 62 40.3% 13 61.5% probably_damaging(0.957) deleterious(0.01) deleterious(0.806) NULL KIAA0196 9897 genome.wustl.edu 37 8 126052058 126052058 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_014846.3 -1 reviewed p.A978V 1.000 115 0% 137 43.1% 27 48.1% benign(0.086) tolerated(0.33) neutral(0.030) HMMPfam_Strumpellin GPR20 2843 genome.wustl.edu 37 8 142367700 142367700 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_005293.2 -1 validated p.T108 0.887 18 0% 24 41.7% 1 0% - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like TSNARE1 203062 genome.wustl.edu 37 8 143436005 143436005 + Missense_Mutation SNP C C G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_145003.3 -1 validated p.Q27H 1.000 15 0% 16 62.5% 1 0% possibly_damaging(0.861) deleterious(0) deleterious(0.778) NULL NOL6 65083 genome.wustl.edu 37 9 33467814 33467814 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_022917.4 -1 reviewed p.P493S 1.000 58 0% 66 47% 15 33.3% benign(0.002) tolerated(0.74) neutral(0.002) HMMPfam_Nrap UBAP1 51271 genome.wustl.edu 37 9 34241378 34241378 + Missense_Mutation SNP C C A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_016525.4 +1 reviewed p.P119T 1.000 219 0% 387 38.2% 83 45.7% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL IL11RA 3590 genome.wustl.edu 37 9 34658519 34658519 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001142784.1 +1 reviewed p.R217C 1.000 65 0% 100 51% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_HEMATOPO_REC_L_F3,superfamily_Fibronectin type III PRKACG 5568 genome.wustl.edu 37 9 71628560 71628560 + Missense_Mutation SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_002732.3 -1 reviewed p.Q150R 1.000 63 0% 88 47.7% 0 - possibly_damaging(0.942) deleterious(0) deleterious(0.832) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase TLE1 7088 genome.wustl.edu 37 9 84202636 84202656 + In_Frame_Del DEL CGCAGGTCCCAGGACCTGACT CGCAGGTCCCAGGACCTGACT - novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 CGCAGGTCCCAGGACCTGACT CGCAGGTCCCAGGACCTGACT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_005077.3 -1 provisional p.VRSWDLR640in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.982:1.000:0.985:0.987:1.000:1.000:0.853 - - - - - - - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40 FAM75C1 441452 genome.wustl.edu 37 9 90537668 90537668 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001145124.1 +1 validated p.C949Y 0.000 245 0.4% 381 37.5% 0 - - - - NULL LOC645937 645937 genome.wustl.edu 37 9 90559391 90559391 + Missense_Mutation SNP C C T rs183045576 by1000genomes TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef XM_928905.4 -1 model p.R119H 0.177 26 0% 44 50% 0 - - - - NULL KLF4 9314 genome.wustl.edu 37 9 110248112 110248112 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_004235.4 -1 validated p.R454C 1.000 82 0% 106 35.8% 21 80.9% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF57667 PTGR1 22949 genome.wustl.edu 37 9 114348376 114348376 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_012212.3 -1 reviewed p.T93 0.000 224 0% 343 42.6% 157 43.9% - - - superfamily_GroES_like PRPF4 9128 genome.wustl.edu 37 9 116050499 116050499 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_004697.3 +1 provisional p.A327V 1.000 61 0% 76 39.5% 69 46.3% benign(0.36) tolerated(0.12) neutral(0.375) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40,PatternScan_PEROXIDASE_2 POLE3 54107 genome.wustl.edu 37 9 116171121 116171123 + In_Frame_Del DEL TTC TTC - novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_017443.4 -1 validated p.E138in_frame_del 0.653:0.975:0.980 - - - - - - - - - superfamily_Histone-fold TLR4 7099 genome.wustl.edu 37 9 120475890 120475890 + Missense_Mutation SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_138554.3 +1 reviewed p.L495P 0.434 173 0% 157 42.7% 2 50% probably_damaging(0.971) deleterious(0) deleterious(0.857) HMMSmart_SM00369,HMMSmart_SM00365,superfamily_L domain-like LHX2 9355 genome.wustl.edu 37 9 126783391 126783391 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef ENST00000446480 +1 known p.R253* 0.929 28 0% 40 40% 0 - - - - NULL TTC16 158248 genome.wustl.edu 37 9 130482562 130482562 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_144965.1 +1 provisional p.A182V 1.000 24 0% 27 25.9% 0 - unknown(0) deleterious(0.01) - superfamily_SSF48452 CDK9 1025 genome.wustl.edu 37 9 130551610 130551610 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001261.3 +1 validated p.R303C 1.000 39 0% 56 33.9% 142 44.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ODF2 4957 genome.wustl.edu 37 9 131256844 131256844 + Missense_Mutation SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_002540.3 +1 reviewed p.L579P 1.000 75 0% 108 37% 152 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL NUP188 23511 genome.wustl.edu 37 9 131721337 131721337 + Missense_Mutation SNP T T A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_015354.1 +1 validated p.V170D 0.996 178 0.6% 242 41.7% 11 54.5% probably_damaging(0.966) deleterious(0.01) deleterious(0.814) HMMPfam_Nup188 FUBP3 8939 genome.wustl.edu 37 9 133498156 133498156 + Missense_Mutation SNP A A G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_003934.1 +1 validated p.K278R 1.000 147 0% 159 43.4% 55 43.6% possibly_damaging(0.79) tolerated(0.29) neutral(0.326) HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) ABL1 25 genome.wustl.edu 37 9 133759442 133759442 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_007313.2 +1 reviewed p.R608C 1.000 108 0% 147 41.5% 37 56.7% probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL ABL1 25 genome.wustl.edu 37 9 133759906 133759906 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_007313.2 +1 reviewed p.T762 0.001 26 0% 34 55.9% 39 46.1% - - - NULL PRRC2B 84726 genome.wustl.edu 37 9 134334666 134334666 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_013318.3 +1 validated p.R443C 0.993 54 0% 105 41% 23 30.4% probably_damaging(1) tolerated(0.11) deleterious(0.772) NULL VAV2 7410 genome.wustl.edu 37 9 136650998 136650998 + Missense_Mutation SNP C C T rs186434110 by1000genomes TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001134398.1 -1 reviewed p.G478S 1.000 18 0.000 9 1.000 20 45% probably_damaging(1) tolerated(0.66) deleterious(0.502) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like PPP1R26 9858 genome.wustl.edu 37 9 138376524 138376524 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_014811.3 +1 validated p.R56 0.000 9 0.000 15 0.333 14 64.2% - - - NULL SNAPC4 6621 genome.wustl.edu 37 9 139277636 139277637 + Splice_Site INS - - CCT novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_003086.2 -1 validated e15+1 0.664:0.753 - - - - - - - - - - PRKCQ 5588 genome.wustl.edu 37 10 6525556 6525556 + Missense_Mutation SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_006257.2 -1 reviewed p.Q342R 1.000 223 0% 206 31.6% 1 0% benign(0.104) tolerated(0.59) neutral(0.013) NULL FRMD4A 55691 genome.wustl.edu 37 10 13701373 13701373 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_018027.3 -1 validated p.P672 0.859 25 0% 14 64.3% 5 60% - - - NULL ARHGAP21 57584 genome.wustl.edu 37 10 24922402 24922402 + Silent SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_020824.3 -1 validated p.R123 1.000 82 0% 68 41.2% 5 40% - - - HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like MYO3A 53904 genome.wustl.edu 37 10 26409675 26409675 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_017433.4 +1 reviewed p.A616V 1.000 122 0% 134 44.8% 0 - benign(0.01) tolerated(0.23) neutral(0.042) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 C10orf68 79741 genome.wustl.edu 37 10 33000652 33000652 + Missense_Mutation SNP C C T rs34466233 TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_024688.2 +1 validated p.R162C 0.000 84 0% 69 17.4% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL ERCC6 2074 genome.wustl.edu 37 10 50738878 50738878 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_000124.2 -1 reviewed p.T144M 0.946 109 0% 148 26.4% 12 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SEC24C 9632 genome.wustl.edu 37 10 75523681 75523681 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_004922.2 +1 reviewed p.K389 1.000 24 0% 59 44.1% 37 51.3% - - - superfamily_beta-sandwich domain of Sec23/24 KCNMA1 3778 genome.wustl.edu 37 10 78708934 78708934 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001014797.2 -1 reviewed p.T838M 1.000 461 0% 738 45.1% 1 100% possibly_damaging(0.908) tolerated(0.13) deleterious(0.614) NULL POLR3A 11128 genome.wustl.edu 37 10 79785936 79785936 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_007055.3 -1 validated p.A32 0.000 94 0% 197 44.2% 4 25% - - - HMMPfam_RNA_pol_Rpb1_1,superfamily_SSF64484 C10orf57 80195 genome.wustl.edu 37 10 81850575 81850575 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_025125.2 +1 provisional p.R92W 0.004 217 0.5% 252 40.1% 24 41.6% benign(0.001) tolerated(0.19) neutral(0.050) NULL GRID1 2894 genome.wustl.edu 37 10 87379738 87379738 + Nonsense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef ENST00000327946 -1 known p.Q532* 1.000 60 0% 95 44.2% 0 - probably_damaging(0.999) tolerated(1) deleterious(0.490) HMMPfam_Lig_chan,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II WAPAL 23063 genome.wustl.edu 37 10 88260090 88260091 + In_Frame_Ins INS - - TTTCGT novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_015045.2 -1 validated p.303in_frame_insTK 0.978:0.997 - - - - - - - - - NULL PTEN 5728 genome.wustl.edu 37 10 89717609 89717609 + Splice_Site SNP G G T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef ENST00000371953 +1 known e7-1 1.000 271 0% 378 88.6% 1 100% - - - - PCGF5 84333 genome.wustl.edu 37 10 92982636 92982636 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_032373.3 +1 provisional p.T3I 1.000 76 0% 95 34.7% 43 51.1% benign(0.109) deleterious(0.03) neutral(0.373) NULL PDE6C 5146 genome.wustl.edu 37 10 95372507 95372507 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_006204.3 +1 reviewed p.V9M 0.997 125 0% 192 41.7% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL EXOSC1 51013 genome.wustl.edu 37 10 99196961 99196961 + Silent SNP G G T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_016046.3 -1 validated p.A156 0.999 125 0% 184 43.5% 128 49.2% - - - NULL GOT1 2805 genome.wustl.edu 37 10 101157330 101157330 + Missense_Mutation SNP G G T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_002079.2 -1 reviewed p.H406N 1.000 305 0% 311 37.3% 221 47.5% benign(0.001) tolerated(0.11) neutral(0.272) superfamily_PLP-dependent transferases PDZD7 79955 genome.wustl.edu 37 10 102789872 102789872 + Silent SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_024895.3 -1 provisional p.S35 0.074 15 0% 24 41.7% 0 - - - - NULL NFKB2 4791 genome.wustl.edu 37 10 104160707 104160707 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001077494.1 +1 validated p.R658W 0.992 33 0% 39 35.9% 67 40.2% possibly_damaging(0.709) deleterious(0.01) deleterious(0.661) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat ITPRIP 85450 genome.wustl.edu 37 10 106074610 106074610 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_033397.2 -1 provisional p.P400 0.759 68 0% 97 45.4% 5 20% - - - NULL PNLIPRP3 119548 genome.wustl.edu 37 10 118228790 118228790 + Missense_Mutation SNP C C A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001011709.2 +1 validated p.H341N 0.006 107 0% 65 44.6% 0 - benign(0) tolerated(0.42) neutral(0.014) HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases EMX2 2018 genome.wustl.edu 37 10 119307691 119307691 + Missense_Mutation SNP T T A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_004098.3 +1 reviewed p.I236N 1.000 56 0% 86 44.2% 194 51% possibly_damaging(0.882) deleterious(0.03) deleterious(0.709) NULL TIAL1 7073 genome.wustl.edu 37 10 121342114 121342114 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001033925.1 -1 reviewed p.D46N 1.000 168 0% 195 37.9% 3 66.6% benign(0) tolerated(0.18) neutral(0.056) HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 CPXM2 119587 genome.wustl.edu 37 10 125557552 125557552 + Missense_Mutation SNP A A C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_198148.2 -1 validated p.S277A 0.972 84 0% 146 50.7% 0 - possibly_damaging(0.728) deleterious(0.03) deleterious(0.629) HMMPfam_F5_F8_type_C,HMMSmart_SM00231,PatternScan_FA58C_2,superfamily_Galactose-binding domain-like DOCK1 1793 genome.wustl.edu 37 10 129172329 129172329 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef ENST00000398025 +1 known p.E1221K 1.000 33 0% 54 31.5% 10 50% possibly_damaging(0.815) deleterious(0.01) deleterious(0.713) NULL MKI67 4288 genome.wustl.edu 37 10 129905111 129905112 + Frame_Shift_Ins INS - - TG novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_002417.4 -1 reviewed p.E1664fs 0.000:0.000 - - - - - - - - - HMMPfam_K167R DNHD1 144132 genome.wustl.edu 37 11 6592336 6592336 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_144666.2 +1 provisional p.R4532C 0.966 12 0% 36 38.9% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_Dynein_heavy OLFML1 283298 genome.wustl.edu 37 11 7530982 7530982 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_198474.3 +1 validated p.R258* 0.966 139 0% 214 50.5% 1 0% - - - HMMPfam_OLF,HMMSmart_SM00284 GALNTL4 374378 genome.wustl.edu 37 11 11400652 11400652 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_198516.2 -1 validated p.A252V 1.000 43 0% 47 46.8% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases MICAL2 9645 genome.wustl.edu 37 11 12225914 12225914 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_014632.2 +1 provisional p.H128Y 1.000 127 0% 172 43.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_FAD/NAD(P)-binding domain PIK3C2A 5286 genome.wustl.edu 37 11 17156375 17156375 + Missense_Mutation SNP C C A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_002645.2 -1 validated p.W700L 1.000 128 0% 137 44.5% 4 75% possibly_damaging(0.655) deleterious(0.01) deleterious(0.636) HMMSmart_SM00239,HMMSmart_SM00142,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) KCNC1 3746 genome.wustl.edu 37 11 17793591 17793591 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001112741.1 +1 reviewed p.R317H 1.000 69 0% 82 43.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels OR8H1 219469 genome.wustl.edu 37 11 56057978 56057978 + Silent SNP G G T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001005199.1 -1 provisional p.S187 0.001 193 0% 220 37.7% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like LOC643637 643637 genome.wustl.edu 37 11 58818195 58818195 + Silent SNP A A G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef XM_002343101.1 +1 model p.S250 0.034 44 2.3% 51 49% 0 - - - - HMMPfam_Gly_acyl_tr_C,superfamily_Acyl-CoA N-acyltransferases (Nat) ROM1 6094 genome.wustl.edu 37 11 62381191 62381191 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_000327.3 +1 reviewed p.D146 1.000 38 0% 44 52.3% 1 0% - - - superfamily_Tetraspanin,HMMPfam_Tetraspannin FKBP2 2286 genome.wustl.edu 37 11 64011460 64011460 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001135208.1 +1 reviewed p.E130K 1.000 78 0% 85 47.1% 156 47.4% benign(0.141) deleterious(0.03) neutral(0.377) HMMPfam_FKBP_C,superfamily_FKBP-like LOC100131416 100131416 genome.wustl.edu 37 11 64878764 64878764 + Missense_Mutation SNP G G A rs142955363 by1000genomes TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef XM_001716064.2 -1 model p.T135I 0.000 13 0% 13 53.8% 7 42.8% - - - NULL PELI3 246330 genome.wustl.edu 37 11 66240719 66240719 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_145065.2 +1 validated p.R155H 1.000 29 0% 36 36.1% 12 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pellino NUMA1 4926 genome.wustl.edu 37 11 71717144 71717144 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_006185.2 -1 validated p.R1877C 1.000 43 0% 77 46.8% 281 50.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL P2RY2 5029 genome.wustl.edu 37 11 72945673 72945673 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_002564.2 +1 reviewed p.V157M 0.994 45 0% 54 44.4% 0 - probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like LOC653111 653111 genome.wustl.edu 37 11 89774481 89774481 + Missense_Mutation SNP G G T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef XM_926073.2 +1 model p.K374N 0.003 392 0% 463 41% 0 - benign(0.001) tolerated(0.52) neutral(0.009) HMMPfam_SPRY,HMMSmart_SM00449 ENSG00000204449 0 genome.wustl.edu 37 11 89806327 89806327 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef ENST00000432771 +1 known p.D370 0.000 283 0% 351 26.2% 0 - - - - HMMPfam_SPRY MTNR1B 4544 genome.wustl.edu 37 11 92715413 92715413 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_005959.3 +1 reviewed p.A342T 0.000 146 0% 241 44.4% 0 - benign(0) tolerated(0.7) neutral(0.002) superfamily_SSF81321 PGR 5241 genome.wustl.edu 37 11 100933289 100933289 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_000926.4 -1 reviewed p.A701T 1.000 380 0.3% 473 43.8% 70 55.7% probably_damaging(0.974) deleterious(0) deleterious(0.861) superfamily_Nuclear receptor ligand-binding domain MMP10 4319 genome.wustl.edu 37 11 102645963 102645963 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_002425.2 -1 reviewed p.A341V 1.000 107 0% 85 50.6% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Hemopexin-like domain,PatternScan_HEMOPEXIN,HMMPfam_Hemopexin,HMMSmart_SM00120 DYNC2H1 79659 genome.wustl.edu 37 11 102984277 102984277 + Silent SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001080463.1 +1 reviewed p.G69 1.000 121 0% 97 36.1% 0 - - - - NULL PDGFD 80310 genome.wustl.edu 37 11 103814332 103814332 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_025208.4 -1 reviewed p.A207V 1.000 71 0% 82 35.4% 0 - possibly_damaging(0.676) tolerated(0.12) deleterious(0.501) NULL ATM 472 genome.wustl.edu 37 11 108186548 108186548 + Splice_Site SNP A A G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_000051.3 +1 reviewed e40-2 0.998 54 0% 77 51.9% 0 - - - - - ARHGAP20 57569 genome.wustl.edu 37 11 110462742 110462742 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_020809.2 -1 validated p.P368S 0.003 299 0% 369 39% 0 - benign(0.001) tolerated(0.4) neutral(0.016) superfamily_GTPase activation domain GAP RNF214 257160 genome.wustl.edu 37 11 117152875 117152875 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001077239.1 +1 validated p.P534L 1.000 289 0.3% 438 47.3% 9 44.4% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL PDZD3 79849 genome.wustl.edu 37 11 119057385 119057385 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_024791.3 +1 validated p.E106K 0.973 27 0% 53 41.5% 0 - benign(0.104) tolerated(0.48) neutral(0.019) HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ TECTA 7007 genome.wustl.edu 37 11 121060496 121060496 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_005422.2 +1 reviewed p.G2092* 0.997 137 0% 205 44.4% 0 - - - - HMMSmart_SM00181,superfamily_EGF/Laminin OR10G9 219870 genome.wustl.edu 37 11 123893757 123893757 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001001953.1 +1 provisional p.T13M 0.765 377 0% 465 37.8% 0 - benign(0.001) tolerated(0.1) neutral(0.286) superfamily_SSF81321 ROBO4 54538 genome.wustl.edu 37 11 124755024 124755024 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_019055.5 -1 validated p.L972 0.284 74 0% 83 51.8% 4 0% - - - NULL IGSF9B 22997 genome.wustl.edu 37 11 133795755 133795755 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_014987.1 -1 validated p.A638V 1.000 24 0% 11 45.5% 0 - benign(0.001) tolerated(0.72) neutral(0.002) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like LRTM2 654429 genome.wustl.edu 37 12 1943759 1943759 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001039029.2 +1 validated p.A329T 0.999 13 0% 26 50% 2 100% unknown(0) - - NULL CACNA1C 775 genome.wustl.edu 37 12 2764319 2764319 + Missense_Mutation SNP G G T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_199460.2 +1 reviewed p.G1431W 1.000 34 0% 37 37.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels AKAP3 10566 genome.wustl.edu 37 12 4736296 4736296 + Missense_Mutation SNP C C A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_006422.2 -1 reviewed p.R591M 0.995 208 0% 287 38.7% 0 - benign(0) tolerated(0.17) neutral(0.059) HMMPfam_AKAP_110,HMMSmart_SM00807 GNB3 2784 genome.wustl.edu 37 12 6952968 6952968 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_002075.2 +1 reviewed p.Q175 1.000 105 0% 147 55.1% 0 - - - - HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 CD163L1 283316 genome.wustl.edu 37 12 7586229 7586229 + Missense_Mutation SNP C C A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_174941.4 -1 reviewed p.E62D 0.995 354 0% 380 44.5% 0 - possibly_damaging(0.892) deleterious(0) deleterious(0.796) HMMPfam_SRCR,PatternScan_SRCR_1,HMMSmart_SM00202,superfamily_SRCR-like CLEC2B 9976 genome.wustl.edu 37 12 10015098 10015098 + Missense_Mutation SNP C C A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_005127.2 -1 reviewed p.V25F 0.062 37 0% 24 37.5% 4 0% unknown(0) deleterious(0) - superfamily_C-type lectin-like CLEC9A 283420 genome.wustl.edu 37 12 10213831 10213831 + Missense_Mutation SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_207345.2 +1 provisional p.M93T 0.004 123 0% 159 37.1% 0 - possibly_damaging(0.55) tolerated(0.21) neutral(0.231) NULL GUCY2C 2984 genome.wustl.edu 37 12 14794126 14794126 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_004963.3 -1 validated p.R653H 0.971 118 0% 163 40.5% 0 - possibly_damaging(0.599) deleterious(0.04) deleterious(0.556) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PTPRO 5800 genome.wustl.edu 37 12 15654980 15654980 + Missense_Mutation SNP T T A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_030667.1 +1 reviewed p.I363N 1.000 199 0% 264 39% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL GYS2 2998 genome.wustl.edu 37 12 21693384 21693384 + Missense_Mutation SNP T T A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_021957.3 -1 reviewed p.E590V 1.000 355 0% 456 51.3% 0 - possibly_damaging(0.515) deleterious(0) deleterious(0.618) HMMPfam_Glycogen_syn,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase KRAS 3845 genome.wustl.edu 37 12 25398281 25398281 + Missense_Mutation SNP C C T rs112445441 byCluster TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_033360.2 -1 reviewed p.G13D 1.000 62 0% 44 36.4% 10 70% benign(0.184) deleterious(0) neutral(0.462) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases DNM1L 10059 genome.wustl.edu 37 12 32886654 32886654 + Silent SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_012062.3 +1 reviewed p.H484 1.000 235 0% 290 39% 69 43.4% - - - HMMPfam_Dynamin_M NELL2 4753 genome.wustl.edu 37 12 45269634 45269635 + Frame_Shift_Ins INS - - T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001145107.1 -1 reviewed p.L56fs 0.993:0.974 - - - - - - - - - NULL FAM113B 91523 genome.wustl.edu 37 12 47629798 47629798 + Missense_Mutation SNP C C A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_138371.1 +1 predicted p.P318T 0.000 127 0% 173 39.3% 1 100% probably_damaging(0.997) tolerated(0.11) deleterious(0.738) NULL ANKRD33 341405 genome.wustl.edu 37 12 52284408 52284408 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_182608.3 +1 validated p.T226 0.476 23 0% 47 48.9% 0 - - - - HMMSmart_SM00248,superfamily_Ankyrin repeat NR4A1 3164 genome.wustl.edu 37 12 52450303 52450303 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_002135.3 +1 reviewed p.G344 0.320 84 0% 133 39.8% 34 52.9% - - - superfamily_Nuclear receptor ligand-binding domain,superfamily_Glucocorticoid receptor-like (DNA-binding domain) KRT8 3856 genome.wustl.edu 37 12 53291257 53291257 + Silent SNP A A G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_002273.3 -1 reviewed p.R469 0.008 67 0% 74 28.4% 4688 51.7% - - - NULL LRP1 4035 genome.wustl.edu 37 12 57599226 57599226 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_002332.2 +1 reviewed p.R3810C 0.959 9 0.000 19 0.421 3 33.3% possibly_damaging(0.847) deleterious(0.01) deleterious(0.731) HMMSmart_SM00179,HMMSmart_SM00181,PatternScan_EGF_2,superfamily_EGF/Laminin MBD6 114785 genome.wustl.edu 37 12 57920713 57920713 + Silent SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_052897.3 +1 validated p.P595 0.999 65 0% 69 42% 29 62% - - - NULL OTOGL 283310 genome.wustl.edu 37 12 80626708 80626708 + Silent SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef XM_002343203.1 +1 model p.I157 0.975 64 0% 66 42.4% 0 - - - - HMMPfam_VWD,HMMSmart_SM00216 LRRIQ1 84125 genome.wustl.edu 37 12 85449564 85449564 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001079910.1 +1 validated p.K331 0.074 118 0.8% 106 42.5% 1 100% - - - superfamily_RNI-like LOC121456 121456 genome.wustl.edu 37 12 98850295 98850296 + RNA DEL TT TT - novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 TT TT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef XR_016411.2 -1 model NULL 1.000:1.000 - - - - - - - - - - ANO4 121601 genome.wustl.edu 37 12 101442173 101442173 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_178826.3 +1 validated p.V401I 1.000 88 0% 97 17.5% 0 - benign(0.011) tolerated(1) neutral(0.001) NULL ANO4 121601 genome.wustl.edu 37 12 101504316 101504316 + Missense_Mutation SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_178826.3 +1 validated p.S727P 1.000 194 0% 192 48.4% 0 - possibly_damaging(0.767) tolerated(0.25) neutral(0.321) HMMPfam_DUF590 SPIC 121599 genome.wustl.edu 37 12 101880174 101880174 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_152323.1 +1 provisional p.P124 0.042 200 0% 290 37.6% 0 - - - - HMMPfam_Ets,HMMSmart_ETS,superfamily_SSF46785 CMKLR1 1240 genome.wustl.edu 37 12 108686028 108686028 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001142343.1 -1 validated p.A238T 0.071 99 0% 136 39.7% 0 - benign(0.004) tolerated(0.46) neutral(0.012) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ACACB 32 genome.wustl.edu 37 12 109675034 109675034 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001093.3 +1 reviewed p.R1504Q 1.000 66 0% 106 46.2% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ACC_central SH2B3 10019 genome.wustl.edu 37 12 111886090 111886090 + Missense_Mutation SNP A A G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_005475.2 +1 reviewed p.Q571R 1.000 60 0% 62 45.2% 4 0% probably_damaging(0.996) deleterious(0.03) deleterious(0.826) NULL NAA25 80018 genome.wustl.edu 37 12 112477134 112477134 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_024953.3 -1 reviewed p.V850I 0.996 213 0% 247 22.3% 6 16.6% benign(0) tolerated(1) - NULL KSR2 283455 genome.wustl.edu 37 12 117968784 117968784 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_173598.4 -1 validated p.A559 0.023 121 0% 197 37.6% 0 - - - - NULL SBNO1 55206 genome.wustl.edu 37 12 123794103 123794103 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_018183.3 -1 validated p.R1156Q 1.000 441 0% 621 26.6% 24 12.5% possibly_damaging(0.582) tolerated(0.23) neutral(0.242) NULL PIWIL1 9271 genome.wustl.edu 37 12 130847536 130847536 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_004764.3 +1 reviewed p.A681V 0.832 181 0% 217 47.9% 0 - benign(0.408) deleterious(0.01) deleterious(0.538) HMMPfam_Piwi,superfamily_Ribonuclease H-like ENSG00000214029 0 genome.wustl.edu 37 12 133697297 133697297 + Missense_Mutation SNP G G T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef ENST00000397313 -1 known p.P403H 0.999 37 0% 33 51.5% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF57667 SACS 26278 genome.wustl.edu 37 13 23929681 23929681 + Missense_Mutation SNP C C A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_014363.4 -1 reviewed p.S357I 0.460 154 0% 154 45.5% 0 - benign(0.277) deleterious(0.05) neutral(0.375) NULL CENPJ 55835 genome.wustl.edu 37 13 25480571 25480571 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_018451.3 -1 reviewed p.R535 0.000 191 0% 234 47.4% 5 40% - - - NULL ATP8A2 51761 genome.wustl.edu 37 13 26114521 26114521 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_016529.4 +1 validated p.R216C 1.000 93 0% 113 39.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Calcium ATPase transduction domain A ATP8A2 51761 genome.wustl.edu 37 13 26151239 26151239 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_016529.4 +1 validated p.T582I 1.000 355 0% 509 37.3% 0 - benign(0.222) tolerated(0.39) neutral(0.038) superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N PAN3 255967 genome.wustl.edu 37 13 28830663 28830664 + Frame_Shift_Ins INS - - T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_175854.7 +1 validated p.L213fs 1.000:0.978 - - - - - - - - - NULL PDS5B 23047 genome.wustl.edu 37 13 33344869 33344869 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_015032.3 +1 reviewed p.T1381M 1.000 141 0% 164 42.1% 25 40% unknown(0) deleterious(0.02) - HMMPfam_AT_hook POSTN 10631 genome.wustl.edu 37 13 38144765 38144765 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_006475.2 -1 validated p.P741S 0.990 138 0% 132 33.3% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TRPC4 7223 genome.wustl.edu 37 13 38225391 38225391 + Missense_Mutation SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_003306.1 -1 validated p.Q697R 0.058 167 0% 209 39.2% 0 - benign(0.004) tolerated(0.58) neutral(0.005) NULL KBTBD6 89890 genome.wustl.edu 37 13 41706221 41706221 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_152903.4 -1 validated p.R143C 1.000 118 0% 173 37.6% 5 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB KIAA0564 23078 genome.wustl.edu 37 13 42465597 42465597 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_015058.1 -1 validated p.R204C 1.000 201 0% 263 38.8% 6 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases KCTD4 386618 genome.wustl.edu 37 13 45768019 45768019 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_198404.2 -1 validated p.I228 0.952 194 0% 250 40% 0 - - - - NULL KLF5 688 genome.wustl.edu 37 13 73636462 73636462 + Missense_Mutation SNP C C A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001730.3 +1 reviewed p.S242Y 1.000 105 0% 118 40.7% 57 36.8% possibly_damaging(0.819) deleterious(0.02) deleterious(0.693) NULL UGGT2 55757 genome.wustl.edu 37 13 96543185 96543185 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_020121.3 -1 validated p.M963I 0.941 71 0% 60 25% 5 40% benign(0) tolerated(0.33) neutral(0.024) HMMPfam_UDP-g_GGTase MBNL2 10150 genome.wustl.edu 37 13 97999298 97999298 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_144778.2 +1 reviewed p.A261T 1.000 12 0% 13 30.8% 3 33.3% benign(0.047) tolerated(0.26) neutral(0.037) NULL TFDP1 7027 genome.wustl.edu 37 13 114290383 114290383 + Missense_Mutation SNP C C A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_007111.4 +1 reviewed p.P260H 1.000 65 0% 101 45.5% 267 48.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DP RNASE2 6036 genome.wustl.edu 37 14 21424090 21424090 + Missense_Mutation SNP A A G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_002934.2 +1 validated p.M54V 0.065 300 0% 423 42.1% 0 - probably_damaging(0.982) deleterious(0.01) deleterious(0.832) HMMPfam_RnaseA,HMMSmart_RNAse_Pc,superfamily_RNaseA RNASE7 84659 genome.wustl.edu 37 14 21511488 21511488 + Missense_Mutation SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_032572.3 +1 validated p.S113P 0.995 375 0.3% 637 48.4% 0 - probably_damaging(0.977) deleterious(0.01) deleterious(0.825) HMMPfam_RnaseA,HMMSmart_SM00092,superfamily_RNase A-like NYNRIN 57523 genome.wustl.edu 37 14 24878720 24878720 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_025081.2 +1 validated p.R574* 0.004 69 0% 100 38% 1 0% - - - NULL G2E3 55632 genome.wustl.edu 37 14 31055967 31055967 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_017769.3 +1 validated p.Y27 1.000 53 0% 33 39.4% 3 0% - - - NULL HECTD1 25831 genome.wustl.edu 37 14 31618216 31618216 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_015382.2 -1 validated p.A769V 1.000 142 0% 118 49.2% 11 72.7% benign(0.055) tolerated(1) neutral(0.004) superfamily_ARM repeat MIS18BP1 55320 genome.wustl.edu 37 14 45673600 45673610 + Frame_Shift_Del DEL GTGTATTACCT GTGTATTACCT - novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 GTGTATTACCT GTGTATTACCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_018353.4 -1 validated p.D1099fs 0.999:1.000:0.999:0.985 - - - - - - - - - NULL PLEKHG3 26030 genome.wustl.edu 37 14 65207917 65207917 + Missense_Mutation SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_015549.1 +1 validated p.V505A 0.005 43 0% 37 40.5% 11 72.7% benign(0.004) tolerated(0.24) neutral(0.037) NULL SPTB 6710 genome.wustl.edu 37 14 65216399 65216399 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001024858.2 -1 reviewed p.S2264 0.935 16 0% 14 57.1% 0 - - - - HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 SPTB 6710 genome.wustl.edu 37 14 65239531 65239531 + Missense_Mutation SNP C C A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001024858.2 -1 reviewed p.G1774W 1.000 37 0% 69 39.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin MPP5 64398 genome.wustl.edu 37 14 67787043 67787043 + Missense_Mutation SNP A A C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_022474.2 +1 validated p.N489T 1.000 154 0.6% 134 44% 18 44.4% benign(0.183) tolerated(0.05) neutral(0.362) HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases PLEKHH1 57475 genome.wustl.edu 37 14 68047706 68047706 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_020715.2 +1 validated p.G1079R 0.698 69 1.4% 97 41.2% 18 38.8% benign(0.043) deleterious(0) neutral(0.447) HMMSmart_SM00295 LTBP2 4053 genome.wustl.edu 37 14 74969967 74969967 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_000428.2 -1 reviewed p.E1615K 1.000 19 0% 30 46.7% 16 31.2% probably_damaging(1) tolerated(0.27) deleterious(0.533) HMMPfam_TB,superfamily_TB module/8-cys domain IRF2BPL 64207 genome.wustl.edu 37 14 77492081 77492081 + Silent SNP G G C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_024496.2 -1 validated p.P685 0.992 13 0% 12 50% 34 17.6% - - - NULL TTC8 123016 genome.wustl.edu 37 14 89307533 89307533 + Missense_Mutation SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_144596.2 +1 reviewed p.L161P 1.000 145 0% 115 38.3% 10 40% benign(0.064) deleterious(0) neutral(0.449) NULL MOK 5891 genome.wustl.edu 37 14 102698943 102698943 + Missense_Mutation SNP C C A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_014226.1 -1 provisional p.M265I 1.000 178 0% 176 42.6% 7 57.1% possibly_damaging(0.793) deleterious(0.03) deleterious(0.662) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase TECPR2 9895 genome.wustl.edu 37 14 102912165 102912165 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_014844.3 +1 validated p.V986I 0.996 83 0% 91 20.9% 8 50% benign(0.382) tolerated(0.44) neutral(0.135) HMMSmart_TECPR ZFYVE21 79038 genome.wustl.edu 37 14 104198969 104198969 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_024071.2 +1 provisional p.R180Q 0.964 20 0% 26 46.2% 97 35% probably_damaging(0.997) deleterious(0.04) deleterious(0.815) NULL TUBGCP5 114791 genome.wustl.edu 37 15 22855131 22855131 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001102610.1 +1 validated p.A531V 0.994 62 0% 81 35.8% 12 66.6% possibly_damaging(0.541) tolerated(0.31) neutral(0.210) HMMPfam_Spc97_Spc98 ATP10A 57194 genome.wustl.edu 37 15 25925385 25925385 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_024490.3 -1 reviewed p.A1250V 0.533 158 0% 178 47.8% 0 - possibly_damaging(0.666) tolerated(0.18) neutral(0.292) NULL GABRG3 2567 genome.wustl.edu 37 15 27765156 27765156 + Missense_Mutation SNP A A G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_033223.4 +1 validated p.R251G 1.000 57 0% 36 44.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD HERC2 8924 genome.wustl.edu 37 15 28389094 28389094 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_004667.4 -1 reviewed p.L3781 0.999 165 0% 271 35.1% 12 58.3% - - - NULL HERC2 8924 genome.wustl.edu 37 15 28463709 28463709 + Missense_Mutation SNP A A G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_004667.4 -1 reviewed p.M1985T 1.000 179 0.6% 206 45.6% 2 0% benign(0.004) deleterious(0.01) neutral(0.406) NULL LOC728310 728310 genome.wustl.edu 37 15 29087688 29087688 + RNA SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef XR_078490.1 -1 model NULL 0.003 10 0% 20 45% 0 - - - - - TRPM1 4308 genome.wustl.edu 37 15 31318416 31318416 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_002420.4 -1 reviewed p.V1163 1.000 54 0% 102 45.1% 0 - - - - NULL C15orf55 256646 genome.wustl.edu 37 15 34648160 34648160 + Missense_Mutation SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_175741.1 +1 validated p.C623R 0.006 84 0% 109 42.2% 0 - benign(0.006) deleterious(0) neutral(0.445) NULL ZFYVE19 84936 genome.wustl.edu 37 15 41105019 41105019 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001077268.1 +1 validated p.R317W 0.968 50 0% 91 45.1% 61 8.1% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL TYRO3 7301 genome.wustl.edu 37 15 41870441 41870441 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_006293.3 +1 reviewed p.L880 0.989 58 0% 73 24.7% 19 0% - - - NULL MAPKBP1 23005 genome.wustl.edu 37 15 42104215 42104215 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001128608.1 +1 validated p.L130 1.000 42 0% 96 49% 3 0% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 JMJD7-PLA2G4B 8681 genome.wustl.edu 37 15 42135904 42135904 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_005090.3 +1 validated p.F489 0.111 21 0% 29 34.5% 2 100% - - - HMMSmart_SM00022,superfamily_FabD/lysophospholipase-like SEMA6D 80031 genome.wustl.edu 37 15 48056849 48056849 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_153618.1 +1 reviewed p.A371V 1.000 162 0% 259 42.9% 1 0% probably_damaging(0.999) tolerated(0.16) deleterious(0.550) HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain SHC4 399694 genome.wustl.edu 37 15 49254760 49254760 + Silent SNP C C A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_203349.3 -1 validated p.V151 0.003 39 0% 55 45.5% 0 - - - - NULL ATP8B4 79895 genome.wustl.edu 37 15 50366325 50366325 + Missense_Mutation SNP G G A rs182947621 by1000genomes TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_024837.2 -1 validated p.A29V 0.102 94 0% 122 36.9% 0 - benign(0.002) tolerated(0.13) neutral(0.253) NULL GNB5 10681 genome.wustl.edu 37 15 52420395 52420395 + Missense_Mutation SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_016194.3 -1 reviewed p.T304A 1.000 156 0% 223 37.7% 43 51.1% benign(0.037) deleterious(0) neutral(0.447) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 RFX7 64864 genome.wustl.edu 37 15 56385854 56385854 + Missense_Mutation SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_022841.5 -1 validated p.S1358G 1.000 73 0% 70 50% 4 50% benign(0) tolerated(0.13) neutral(0.253) NULL ADAM10 102 genome.wustl.edu 37 15 58938273 58938273 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001110.2 -1 reviewed p.R239Q 1.000 198 0% 143 37.8% 21 57.1% probably_damaging(0.961) tolerated(0.09) deleterious(0.701) HMMPfam_Reprolysin,superfamily_SSF55486 TIPIN 54962 genome.wustl.edu 37 15 66633524 66633524 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_017858.2 -1 validated p.A216T 1.000 122 0% 184 15.2% 15 13.3% possibly_damaging(0.952) tolerated(0.27) neutral(0.429) NULL LCTL 197021 genome.wustl.edu 37 15 66850163 66850163 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_207338.2 -1 validated p.P273 0.999 264 0.4% 411 18% 0 - - - - HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat PML 5371 genome.wustl.edu 37 15 74290467 74290467 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_033238.2 +1 reviewed p.S84 0.000 41 2.4% 68 33.8% 17 47% - - - HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_RING/U-box PML 5371 genome.wustl.edu 37 15 74325022 74325022 + Missense_Mutation SNP A A T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_033238.2 +1 reviewed p.Y455F 0.025 64 0% 101 28.7% 34 50% benign(0.009) deleterious(0) neutral(0.445) NULL SGK269 79834 genome.wustl.edu 37 15 77473265 77473265 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_024776.2 -1 validated p.S335N 1.000 307 0% 427 41.2% 5 40% possibly_damaging(0.949) deleterious(0.02) deleterious(0.776) NULL PDE8A 5151 genome.wustl.edu 37 15 85610390 85610390 + Missense_Mutation SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_002605.2 +1 validated p.I130T 0.997 159 0% 257 40.9% 1 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Response_reg AKAP13 11214 genome.wustl.edu 37 15 86125312 86125312 + Missense_Mutation SNP C C A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_006738.4 +1 reviewed p.P1338H 0.000 71 0% 108 50% 3 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL IFT140 9742 genome.wustl.edu 37 16 1630789 1630789 + Missense_Mutation SNP A A G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_014714.3 -1 validated p.S499P 1.000 24 0% 36 33.3% 16 50% benign(0) tolerated(1) - superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase C16orf73 254528 genome.wustl.edu 37 16 1884269 1884269 + Silent SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_152764.2 -1 validated p.Q439 0.002 32 0% 39 30.8% 0 - - - - NULL TSC2 7249 genome.wustl.edu 37 16 2106763 2106763 + Missense_Mutation SNP G G A rs137854025 TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_000548.3 +1 reviewed p.C256Y 1.000 63 0% 128 45.3% 26 50% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) superfamily_ARM repeat ZNF263 10127 genome.wustl.edu 37 16 3340260 3340260 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_005741.4 +1 validated p.R585Q 0.994 103 0% 83 38.6% 15 73.3% probably_damaging(0.969) deleterious(0.04) deleterious(0.760) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers UBN1 29855 genome.wustl.edu 37 16 4925244 4925244 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001079514.1 +1 validated p.A945T 0.006 124 0% 203 47.8% 6 83.3% benign(0.006) tolerated(0.17) neutral(0.059) NULL CIITA 4261 genome.wustl.edu 37 16 11000785 11000785 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_000246.3 +1 reviewed p.A479V 0.000 113 0% 133 44.4% 0 - benign(0.001) tolerated(0.27) neutral(0.034) HMMPfam_NACHT CLEC16A 23274 genome.wustl.edu 37 16 11051713 11051713 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_015226.2 +1 validated p.R52H 1.000 165 0% 215 45.1% 5 80% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FPL NOMO1 23420 genome.wustl.edu 37 16 14975509 14975509 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_014287.3 +1 reviewed p.D998 0.954 342 0% 436 14.4% 143 7.6% - - - superfamily_Carboxypeptidase regulatory domain KIAA0430 9665 genome.wustl.edu 37 16 15696369 15696370 + In_Frame_Ins INS - - AAGAAGACGAAGACGACGATA rs138899406 by1000genomes TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef ENST00000344181 -1 known p.1154in_frame_insFVFFIVV 0.000:0.001 - - - - - - - - - NULL NOMO2 283820 genome.wustl.edu 37 16 18532148 18532148 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001004060.1 -1 reviewed p.V738M 0.959 510 0% 798 15.5% 98 13.2% possibly_damaging(0.59) tolerated(0.12) neutral(0.465) NULL SMG1 23049 genome.wustl.edu 37 16 18840901 18840901 + Missense_Mutation SNP G G T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_015092.4 -1 reviewed p.L3104I 1.000 154 0% 173 32.4% 9 66.6% probably_damaging(0.957) tolerated(0.78) neutral(0.402) NULL UMOD 7369 genome.wustl.edu 37 16 20355478 20355478 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001008389.1 -1 reviewed p.A400V 1.000 35 0% 72 38.9% 0 - benign(0.145) tolerated(0.92) neutral(0.013) HMMPfam_Zona_pellucida,HMMSmart_SM00241 SPN 6693 genome.wustl.edu 37 16 29675791 29675791 + Missense_Mutation SNP C C A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001030288.1 +1 validated p.P248T 0.000 84 0% 107 35.5% 0 - probably_damaging(0.989) tolerated(0.05) deleterious(0.785) NULL PRSS36 146547 genome.wustl.edu 37 16 31159945 31159945 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_173502.3 -1 validated p.H108 1.000 9 0.000 15 0.267 0 - - - - HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys ARMC5 79798 genome.wustl.edu 37 16 31477779 31477779 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001105247.1 +1 validated p.R793* 0.331 12 0% 11 45.5% 6 16.6% - - - NULL ABCC11 85320 genome.wustl.edu 37 16 48204026 48204026 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_032583.3 -1 reviewed p.R1294H 0.999 177 0% 306 43.8% 3 33.3% probably_damaging(1) tolerated(0.13) deleterious(0.752) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases C16orf78 123970 genome.wustl.edu 37 16 49412411 49412411 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_144602.2 +1 predicted p.A101T 0.000 38 0% 59 49.2% 0 - benign(0.032) tolerated(0.42) neutral(0.015) NULL HEATR3 55027 genome.wustl.edu 37 16 50102702 50102702 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_182922.2 +1 provisional p.A108V 1.000 239 0% 241 43.6% 17 35.2% benign(0.345) tolerated(0.99) neutral(0.109) superfamily_ARM repeat ADCY7 113 genome.wustl.edu 37 16 50344747 50344747 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001114.3 +1 reviewed p.C770 0.000 35 0% 51 52.9% 5 40% - - - NULL CETP 1071 genome.wustl.edu 37 16 57007351 57007351 + Missense_Mutation SNP T T G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_000078.2 +1 reviewed p.F287V 0.108 102 0% 131 42% 0 - benign(0.19) deleterious(0.02) neutral(0.401) HMMPfam_LBP_BPI_CETP_C,HMMSmart_SM00329,superfamily_Bactericidal permeability-increasing protein BPI EDC4 23644 genome.wustl.edu 37 16 67917473 67917473 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_014329.3 +1 validated p.A1284 0.720 251 0% 296 49% 85 48.2% - - - NULL WWP2 11060 genome.wustl.edu 37 16 69968028 69968028 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_007014.3 +1 reviewed p.A613V 1.000 63 0% 78 30.8% 22 54.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HECT,HMMSmart_HECTc,superfamily_HECT FUK 197258 genome.wustl.edu 37 16 70502792 70502792 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_145059.2 +1 reviewed p.R235H 0.988 34 0% 48 47.9% 21 33.3% benign(0.002) tolerated(0.3) neutral(0.029) HMMPfam_Fucokinase HYDIN 54768 genome.wustl.edu 37 16 70897063 70897063 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_032821.2 -1 validated p.R3831C 0.043 62 0% 96 46.9% 0 - possibly_damaging(0.641) tolerated(0.05) deleterious(0.570) NULL ZFHX3 463 genome.wustl.edu 37 16 72830196 72830196 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_006885.3 -1 reviewed p.A2129T 1.000 81 0% 91 35.2% 2 100% unknown(0) - - NULL IRF8 3394 genome.wustl.edu 37 16 85946829 85946829 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_002163.2 +1 reviewed p.Q180 1.000 40 0% 59 54.2% 1 0% - - - NULL ZCCHC14 23174 genome.wustl.edu 37 16 87493648 87493648 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_015144.2 -1 validated p.S83 0.703 280 0% 385 43.1% 4 50% - - - NULL ZCCHC14 23174 genome.wustl.edu 37 16 87493713 87493713 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_015144.2 -1 validated p.V62I 0.048 245 0% 357 44% 3 100% unknown(0) tolerated(0.37) - NULL MC1R 4157 genome.wustl.edu 37 16 89986143 89986143 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_002386.3 +1 reviewed p.P159 0.142 17 0% 12 33.3% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like YWHAE 7531 genome.wustl.edu 37 17 1248584 1248586 + RNA DEL AAA AAA - novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 AAA AAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NR_024058.1 -1 reviewed NULL 1.000:1.000:1.000 - - - - - - - - - - PRPF8 10594 genome.wustl.edu 37 17 1582133 1582133 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_006445.3 -1 reviewed p.R548W 1.000 88 0% 212 41% 42 40.4% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_PROCN MYBBP1A 10514 genome.wustl.edu 37 17 4442893 4442893 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001105538.1 -1 validated p.P1268 0.003 122 0% 103 46.6% 60 48.3% - - - NULL MYBBP1A 10514 genome.wustl.edu 37 17 4458462 4458462 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001105538.1 -1 validated p.A53V 1.000 4 0.000 14 0.429 38 42.1% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_ARM-type_fold LOC100288822 100288822 genome.wustl.edu 37 17 4692468 4692468 + Nonstop_Mutation SNP A A G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef XM_002343474.1 -1 model p.*369R 0.003 11 0% 15 40% 1 100% - - - NULL CAMTA2 23125 genome.wustl.edu 37 17 4876150 4876150 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_015099.3 -1 validated p.A806V 1.000 117 0% 172 43.6% 20 50% possibly_damaging(0.913) tolerated(0.23) neutral(0.406) HMMPfam_Ank,superfamily_Ankyrin repeat KIF1C 10749 genome.wustl.edu 37 17 4905844 4905844 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_006612.5 +1 validated p.P172L 1.000 168 0% 236 42.8% 66 53% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SSF52540 WSCD1 23302 genome.wustl.edu 37 17 6023810 6023810 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_015253.1 +1 validated p.C519 0.993 91 0% 81 50.6% 0 - - - - superfamily_SSF52540 BCL6B 255877 genome.wustl.edu 37 17 6930407 6930407 + Splice_Site SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_181844.3 +1 validated e7+1 1.000 44 0% 82 42.7% 0 - - - - - MPDU1 9526 genome.wustl.edu 37 17 7490370 7490370 + Missense_Mutation SNP G G T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef ENST00000449455 +1 known p.G181V 0.000 28 0% 60 63.3% 0 - - - - NULL FXR2 9513 genome.wustl.edu 37 17 7495655 7495655 + Missense_Mutation SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_004860.3 -1 reviewed p.I615V 1.000 216 0% 346 45.1% 35 62.8% probably_damaging(0.982) tolerated(0.08) deleterious(0.726) NULL WRAP53 55135 genome.wustl.edu 37 17 7606776 7606776 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_018081.2 +1 validated p.T540M 0.000 53 0% 57 35.1% 13 46.1% unknown(0) deleterious(0.01) - NULL CHD3 1107 genome.wustl.edu 37 17 7792988 7792988 + Missense_Mutation SNP A A G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001005271.2 +1 reviewed p.D95G 1.000 44 0% 82 51.2% 2 0% benign(0.063) - - NULL CHD3 1107 genome.wustl.edu 37 17 7812640 7812640 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001005271.2 +1 reviewed p.N1917 1.000 4 0.000 11 0.545 185 45.4% - - - HMMPfam_CHDCT2 PFAS 5198 genome.wustl.edu 37 17 8160251 8160251 + Missense_Mutation SNP G G T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_012393.2 +1 reviewed p.G349C 1.000 50 0% 75 46.7% 13 69.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AIRS,superfamily_PurM N-terminal domain-like MYH4 4622 genome.wustl.edu 37 17 10348418 10348418 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_017533.2 -1 validated p.A1781T 1.000 280 0% 366 41.8% 0 - probably_damaging(0.987) tolerated(0.42) neutral(0.451) HMMPfam_Myosin_tail_1 MYH1 4619 genome.wustl.edu 37 17 10412824 10412824 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_005963.3 -1 reviewed p.A522V 1.000 206 0% 176 47.2% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYH2 4620 genome.wustl.edu 37 17 10442823 10442823 + Missense_Mutation SNP G G T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001100112.1 -1 reviewed p.L402I 1.000 209 0% 295 39% 0 - benign(0.002) tolerated(0.25) neutral(0.037) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 LOC100287710 100287710 genome.wustl.edu 37 17 13399967 13399967 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef XM_002343489.1 +1 model p.R117C 1.000 168 0% 252 36.9% 1 100% - - - NULL MYO15A 51168 genome.wustl.edu 37 17 18075512 18075512 + Missense_Mutation SNP T T A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_016239.3 +1 reviewed p.F3420I 1.000 55 0% 56 30.4% 0 - benign(0.256) tolerated(0.38) neutral(0.044) NULL NOS2 4843 genome.wustl.edu 37 17 26091024 26091024 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_000625.4 -1 reviewed p.L859 1.000 20 0% 21 33.3% 0 - - - - HMMPfam_FAD_binding_1,superfamily_Riboflavin synthase domain-like CCL7 6354 genome.wustl.edu 37 17 32597347 32597347 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_006273.2 +1 reviewed p.T13I 0.000 137 0% 165 46.7% 0 - unknown(0) - - NULL NEUROD2 4761 genome.wustl.edu 37 17 37761840 37761840 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_006160.3 -1 reviewed p.T338M 0.035 17 0% 13 69.2% 0 - benign(0.108) tolerated(0.26) neutral(0.043) NULL KRT12 3859 genome.wustl.edu 37 17 39020074 39020074 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_000223.3 -1 reviewed p.V284I 1.000 25 0% 38 50% 0 - probably_damaging(0.974) deleterious(0.03) deleterious(0.780) HMMPfam_Filament GHDC 84514 genome.wustl.edu 37 17 40345364 40345364 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_032484.4 -1 validated p.R79H 0.001 23 0% 28 53.6% 27 44.4% probably_damaging(0.991) tolerated(0.16) deleterious(0.504) HMMPfam_GH3 ASB16 92591 genome.wustl.edu 37 17 42255735 42255735 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_080863.4 +1 reviewed p.R447C 0.399 10 0% 22 36.4% 3 66.6% benign(0.002) tolerated(0.08) neutral(0.300) HMMPfam_SOCS_box KPNB1 3837 genome.wustl.edu 37 17 45757996 45757997 + Frame_Shift_Ins INS - - A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef ENST00000290158 +1 known p.W864fs 1.000:1.000 - - - - - - - - - superfamily_ARM repeat KPNB1 3837 genome.wustl.edu 37 17 45757997 45757997 + Missense_Mutation SNP G G T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef ENST00000290158 +1 known p.W864C 1.000 101 0% 207 37.2% 427 24.8% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat MRPL10 124995 genome.wustl.edu 37 17 45905949 45905949 + Missense_Mutation SNP A A C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_145255.2 -1 reviewed p.L47R 1.000 42 0% 65 36.9% 53 45.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL HOXB3 3213 genome.wustl.edu 37 17 46628473 46628473 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_002146.4 -1 reviewed p.G173 1.000 11 0% 12 58.3% 0 - - - - NULL KIF2B 84643 genome.wustl.edu 37 17 51901676 51901676 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_032559.4 +1 validated p.V428M 0.632 125 0% 167 44.9% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases EPX 8288 genome.wustl.edu 37 17 56274451 56274451 + Missense_Mutation SNP A A C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_000502.4 +1 reviewed p.E318A 1.000 150 0% 219 36.1% 0 - possibly_damaging(0.899) tolerated(0.08) deleterious(0.656) HMMPfam_An_peroxidase,superfamily_Peroxidase_super HEATR6 63897 genome.wustl.edu 37 17 58132903 58132903 + Silent SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_022070.4 -1 validated p.A754 0.058 48 0% 71 35.2% 10 60% - - - superfamily_ARM-type_fold SCN4A 6329 genome.wustl.edu 37 17 62026052 62026052 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_000334.4 -1 reviewed p.R1021 0.999 36 0% 40 47.5% 0 - - - - HMMPfam_Na_trans_assoc,superfamily_Voltage-gated potassium channels BPTF 2186 genome.wustl.edu 37 17 65870996 65870996 + Frame_Shift_Del DEL A A - novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_182641.3 +1 reviewed p.T576fs 0.973 - - - - - - - - - NULL SLC26A11 284129 genome.wustl.edu 37 17 78210848 78210848 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_173626.3 +1 reviewed p.P286 0.823 43 0% 79 27.8% 15 26.6% - - - HMMPfam_Sulfate_transp ACTG1 71 genome.wustl.edu 37 17 79478363 79478363 + Missense_Mutation SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001614.2 -1 reviewed p.Y218C 1.000 41 0% 27 37% 8035 48.8% possibly_damaging(0.503) - - HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain C17orf62 79415 genome.wustl.edu 37 17 80401662 80401662 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef ENST00000342572 -1 known p.H117Y 0.001 21 0% 19 36.8% 55 25.4% possibly_damaging(0.873) tolerated(0.06) deleterious(0.661) NULL ZNF519 162655 genome.wustl.edu 37 18 14105532 14105532 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_145287.3 -1 validated p.T336I 0.001 392 0% 499 38.1% 2 50% possibly_damaging(0.455) tolerated(0.16) neutral(0.208) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers DSC3 1825 genome.wustl.edu 37 18 28576764 28576764 + Missense_Mutation SNP A A C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001941.3 -1 reviewed p.L829R 0.981 144 0% 165 36.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL FHOD3 80206 genome.wustl.edu 37 18 34174815 34174815 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_025135.2 +1 validated p.N224 0.726 101 0% 156 39.7% 0 - - - - superfamily_ARM-type_fold SLC14A2 8170 genome.wustl.edu 37 18 43205788 43205788 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_007163.3 +1 validated p.Y97 1.000 107 0% 204 47.1% 0 - - - - NULL TCEB3B 51224 genome.wustl.edu 37 18 44561289 44561289 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_016427.2 -1 reviewed p.A116V 0.000 57 0% 46 34.8% 0 - benign(0) tolerated(0.53) neutral(0.007) NULL CXXC1 30827 genome.wustl.edu 37 18 47810330 47810330 + Silent SNP G G C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001101654.1 -1 validated p.R453 0.995 180 0% 333 15.3% 64 10.9% - - - NULL ALPK2 115701 genome.wustl.edu 37 18 56202968 56202968 + Missense_Mutation SNP G G T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_052947.3 -1 validated p.P1484H 0.000 131 0.8% 136 45.6% 0 - benign(0) deleterious(0) neutral(0.445) NULL ZNF532 55205 genome.wustl.edu 37 18 56585626 56585626 + Missense_Mutation SNP A A G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_018181.4 +1 validated p.D36G 1.000 230 0% 295 42% 7 42.8% benign(0.117) deleterious(0.01) neutral(0.415) NULL KIAA1468 57614 genome.wustl.edu 37 18 59925765 59925765 + Silent SNP A A G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_020854.3 +1 validated p.S686 0.997 135 0% 93 33.3% 10 30% - - - superfamily_ARM repeat CBLN2 147381 genome.wustl.edu 37 18 70209102 70209102 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_182511.3 -1 validated p.T98 0.974 12 0% 11 45.5% 0 - - - - HMMPfam_C1q,HMMSmart_C1Q,superfamily_TNF_like ZNF407 55628 genome.wustl.edu 37 18 72589190 72589190 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_017757.2 +1 reviewed p.E1639* 1.000 131 0% 164 31.7% 12 8.3% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF555 148254 genome.wustl.edu 37 19 2852522 2852522 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_152791.4 +1 validated p.M153I 0.000 95 0% 143 20.3% 2 0% benign(0.001) tolerated(0.49) neutral(0.011) superfamily_C2H2 and C2HC zinc fingers PLIN4 729359 genome.wustl.edu 37 19 4512087 4512087 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001080400.1 -1 provisional p.G615S 0.975 121 0% 102 47.1% 1 100% probably_damaging(1) tolerated(0.09) deleterious(0.796) NULL CLEC4M 10332 genome.wustl.edu 37 19 7828096 7828096 + RNA SNP G G T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NR_026707.1 +1 reviewed NULL 0.005 88 0% 108 45.4% 0 - - - - - MUC16 94025 genome.wustl.edu 37 19 9061016 9061016 + Silent SNP G G T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_024690.2 -1 validated p.A8810 0.000 190 0% 377 48.3% 7 42.8% - - - NULL OR1M1 125963 genome.wustl.edu 37 19 9204579 9204579 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001004456.1 +1 provisional p.R220H 0.000 180 0% 311 48.9% 0 - benign(0.003) tolerated(0.4) neutral(0.016) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ZNF699 374879 genome.wustl.edu 37 19 9413061 9413061 + Silent SNP G G T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_198535.1 -1 provisional p.A56 1.000 213 0% 222 44.1% 0 - - - - HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box TYK2 7297 genome.wustl.edu 37 19 10475630 10475630 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_003331.4 -1 reviewed p.P369L 0.000 20 0% 46 47.8% 35 57.1% benign(0.005) tolerated(0.37) neutral(0.019) NULL DOCK6 57572 genome.wustl.edu 37 19 11312670 11312670 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_020812.2 -1 validated p.R1861 0.461 29 0% 26 30.8% 29 41.3% - - - HMMPfam_Ded_cyto ZSWIM4 65249 genome.wustl.edu 37 19 13941337 13941337 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_023072.2 +1 validated p.R815C 1.000 91 0% 117 48.7% 17 58.8% probably_damaging(0.981) tolerated(0.13) deleterious(0.678) NULL CIB3 117286 genome.wustl.edu 37 19 16275653 16275653 + Missense_Mutation SNP G G T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_054113.2 -1 reviewed p.L140M 1.000 94 0% 172 38.4% 0 - probably_damaging(0.987) deleterious(0.03) deleterious(0.801) superfamily_EF-hand SIN3B 23309 genome.wustl.edu 37 19 16942359 16942359 + Silent SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_015260.1 +1 provisional p.P94 0.729 182 0% 163 44.2% 12 25% - - - HMMPfam_PAH,superfamily_PAH2 domain CPAMD8 27151 genome.wustl.edu 37 19 17056376 17056376 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_015692.2 -1 validated p.R973C 0.987 58 1.7% 100 41% 3 0% benign(0.08) tolerated(0.08) neutral(0.305) NULL HAUS8 93323 genome.wustl.edu 37 19 17160706 17160707 + Frame_Shift_Del DEL GA GA - novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_033417.1 -1 validated p.R404fs 0.000:0.000 - - - - - - - - - NULL MRPL34 64981 genome.wustl.edu 37 19 17416723 17416723 + Missense_Mutation SNP C C A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_023937.3 +1 reviewed p.L8M 0.001 9 0.000 18 0.444 94 34% benign(0.025) tolerated(0.11) neutral(0.273) NULL ANO8 57719 genome.wustl.edu 37 19 17441046 17441046 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_020959.2 -1 validated p.S387 0.622 29 0% 30 40% 8 62.5% - - - NULL SLC27A1 376497 genome.wustl.edu 37 19 17611637 17611637 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_198580.1 +1 provisional p.R530C 0.998 12 0% 30 46.7% 3 0% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_AMP-binding,superfamily_SSF56801 ARRDC2 27106 genome.wustl.edu 37 19 18119848 18119848 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_015683.1 +1 validated p.R137Q 1.000 33 0% 45 40% 8 62.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Arrestin_N,superfamily_E set domains ZNF536 9745 genome.wustl.edu 37 19 31040074 31040074 + Missense_Mutation SNP T T A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_014717.1 +1 provisional p.V1183D 0.025 82 0% 111 14.4% 0 - benign(0.014) deleterious(0.01) neutral(0.406) NULL RHPN2 85415 genome.wustl.edu 37 19 33499030 33499030 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_033103.4 -1 reviewed p.A217V 1.000 55 0% 87 34.5% 29 48.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_BRO1 WDR88 126248 genome.wustl.edu 37 19 33666371 33666371 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_173479.3 +1 validated p.V438M 0.978 135 0% 154 46.8% 2 100% probably_damaging(0.973) deleterious(0) deleterious(0.859) NULL ZNF599 148103 genome.wustl.edu 37 19 35251440 35251440 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001007248.2 -1 validated p.T89I 0.025 129 0% 147 46.3% 0 - possibly_damaging(0.45) tolerated(0.44) neutral(0.160) NULL NFKBID 84807 genome.wustl.edu 37 19 36380886 36380886 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_139239.1 -1 provisional p.R265Q 1.000 25 0% 55 45.5% 2 0% possibly_damaging(0.885) tolerated(0.12) deleterious(0.607) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat NFKBID 84807 genome.wustl.edu 37 19 36388735 36388735 + Missense_Mutation SNP A A G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef ENST00000352614 -1 known p.S94P 0.202 34 0% 35 14.3% 2 0% benign(0) deleterious(0.01) neutral(0.406) NULL SIPA1L3 23094 genome.wustl.edu 37 19 38610115 38610115 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_015073.1 +1 validated p.R821C 1.000 78 0% 88 27.3% 28 32.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Rap_GAP,superfamily_SSF111347 SIPA1L3 23094 genome.wustl.edu 37 19 38633324 38633324 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_015073.1 +1 validated p.Y1169 0.978 301 0% 662 39.7% 27 25.9% - - - NULL CATSPERG 57828 genome.wustl.edu 37 19 38853433 38853433 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_021185.4 +1 validated p.K812 0.000 91 0% 142 38% 0 - - - - NULL SHKBP1 92799 genome.wustl.edu 37 19 41086500 41086500 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_138392.3 +1 validated p.R197 0.975 94 0% 124 47.6% 42 47.6% - - - superfamily_WD40 repeat-like ADCK4 79934 genome.wustl.edu 37 19 41211263 41211263 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_024876.3 -1 validated p.A153T 1.000 48 0% 72 37.5% 9 55.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CYP2A7P1 1550 genome.wustl.edu 37 19 41532001 41532001 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef ENST00000301171 -1 known p.L135 0.997 9 0.000 22 0.591 0 - - - - HMMPfam_p450,superfamily_Cytochrome_P450 CIC 23152 genome.wustl.edu 37 19 42798976 42798976 + Frame_Shift_Del DEL C C - novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_015125.3 +1 validated p.Q1488fs 1.000 - - - - - - - - - NULL ZFP112 7771 genome.wustl.edu 37 19 44833216 44833216 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001083335.1 -1 validated p.S371N 0.000 140 0% 146 39% 0 - benign(0.037) tolerated(0.35) neutral(0.022) superfamily_C2H2 and C2HC zinc fingers CLASRP 11129 genome.wustl.edu 37 19 45573299 45573303 + Frame_Shift_Del DEL AAGGA AAGGA - novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 AAGGA AAGGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_007056.2 +1 validated p.K632fs 1.000:1.000:1.000:1.000:1.000 - - - - - - - - - NULL FBXO46 23403 genome.wustl.edu 37 19 46216692 46216692 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001080469.1 -1 provisional p.S21* 1.000 27 0% 40 42.5% 29 48.2% - - - NULL RSPH6A 81492 genome.wustl.edu 37 19 46307854 46307854 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_030785.3 -1 reviewed p.P437S 0.018 37 0% 74 51.4% 0 - possibly_damaging(0.872) tolerated(0.1) deleterious(0.625) HMMPfam_Radial_spoke ZC3H4 23211 genome.wustl.edu 37 19 47575286 47575286 + Missense_Mutation SNP A A G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_015168.1 -1 validated p.M632T 1.000 20 0% 12 58.3% 21 28.5% unknown(0) tolerated(0.31) - NULL TMEM143 55260 genome.wustl.edu 37 19 48845876 48845876 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_018273.2 -1 provisional p.V296M 1.000 69 0% 140 37.9% 10 50% possibly_damaging(0.918) tolerated(0.18) neutral(0.424) NULL TEAD2 8463 genome.wustl.edu 37 19 49844622 49844622 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_003598.1 -1 provisional p.R435C 1.000 69 0% 109 44% 89 86.5% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_TEA NUP62 23636 genome.wustl.edu 37 19 50412225 50412230 + In_Frame_Del DEL GGTGGC GGTGGC - novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 GGTGGC GGTGGC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_012346.3 -1 reviewed p.AT279in_frame_del 0.004:0.007:0.000:0.000:0.000:0.000 - - - - - - - - - NULL MYBPC2 4606 genome.wustl.edu 37 19 50962430 50962430 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_004533.3 +1 validated p.V886 0.998 5 0.000 8 0.625 1 0% - - - HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726 GPR32 2854 genome.wustl.edu 37 19 51274590 51274590 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001506.1 +1 provisional p.R245W 0.079 40 2.5% 143 58.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 LIM2 3982 genome.wustl.edu 37 19 51890474 51890474 + Missense_Mutation SNP G G A rs2547311 TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_030657.3 -1 reviewed p.A75V 0.004 42 0% 68 47.1% 0 - benign(0.278) tolerated(0.18) neutral(0.086) HMMPfam_PMP22_Claudin TMC4 147798 genome.wustl.edu 37 19 54673380 54673380 + Missense_Mutation SNP C C A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001145303.1 -1 validated p.R110S 0.000 54 0% 111 45% 21 47.6% possibly_damaging(0.717) tolerated(0.08) deleterious(0.559) NULL LILRA6 79168 genome.wustl.edu 37 19 54744236 54744236 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_024318.2 -1 validated p.A391V 0.000 174 0.6% 189 29.6% 0 - benign(0.001) tolerated(0.2) neutral(0.049) HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726 PPP1R12C 54776 genome.wustl.edu 37 19 55610165 55610165 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_017607.2 -1 provisional p.R313Q 0.398 10 0% 21 42.9% 22 27.2% benign(0.008) tolerated(0.21) neutral(0.044) NULL ZNF547 284306 genome.wustl.edu 37 19 57889498 57889498 + Missense_Mutation SNP A A G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_173631.2 +1 validated p.K385R 0.946 279 0.7% 403 40% 7 57.1% probably_damaging(0.979) tolerated(0.06) deleterious(0.744) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF324B 388569 genome.wustl.edu 37 19 58967676 58967676 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_207395.2 +1 validated p.C455 0.052 48 0% 75 40% 3 33.3% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers TMEM74B 55321 genome.wustl.edu 37 20 1161797 1161797 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_018354.1 -1 provisional p.A156T 0.999 79 0% 115 45.2% 3 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SDCBP2 27111 genome.wustl.edu 37 20 1299025 1299025 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_080489.3 -1 validated p.M54I 1.000 116 0% 153 24.2% 2 0% possibly_damaging(0.703) deleterious(0.01) deleterious(0.658) NULL PRND 23627 genome.wustl.edu 37 20 4705724 4705724 + Missense_Mutation SNP A A G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_012409.2 +1 reviewed p.K176R 0.001 28 0% 51 35.3% 0 - possibly_damaging(0.653) deleterious(0) deleterious(0.674) HMMPfam_Prion RIN2 54453 genome.wustl.edu 37 20 19955329 19955329 + Silent SNP C C A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_018993.2 +1 reviewed p.P220 0.999 100 0% 89 32.6% 2 50% - - - NULL PYGB 5834 genome.wustl.edu 37 20 25255332 25255332 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_002862.3 +1 reviewed p.P211 0.017 45 0% 49 32.7% 56 23.2% - - - HMMPfam_Phosphorylase,superfamily_SSF53756 NCOA6 23054 genome.wustl.edu 37 20 33330968 33330970 + In_Frame_Del DEL TGC TGC - rs112895426 byFrequency TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 TGC TGC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_014071.2 -1 reviewed p.Q1032in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL PHF20 51230 genome.wustl.edu 37 20 34526651 34526651 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_016436.4 +1 validated p.C778Y 1.000 202 0% 297 56.2% 14 57.1% possibly_damaging(0.94) tolerated(0.07) deleterious(0.704) NULL CHD6 84181 genome.wustl.edu 37 20 40050151 40050151 + Silent SNP A A G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_032221.3 -1 reviewed p.Y1708 0.981 188 0% 243 40.7% 5 40% - - - NULL KCNK15 60598 genome.wustl.edu 37 20 43378827 43378827 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_022358.2 +1 reviewed p.A114V 1.000 13 7.7% 15 60% 23 26% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans_2,superfamily_SSF81324 TNNC2 7125 genome.wustl.edu 37 20 44453219 44453220 + Frame_Shift_Ins INS - - T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_003279.2 -1 reviewed p.E39fs 1.000:1.000 - - - - - - - - - HMMSmart_SM00054,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_EF-hand PREX1 57580 genome.wustl.edu 37 20 47248966 47248966 + Silent SNP G G T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef ENST00000396220 -1 known p.S1493 0.000 47 0% 74 48.6% 0 - - - - NULL ARFGEF2 10564 genome.wustl.edu 37 20 47611056 47611056 + Silent SNP G G C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_006420.2 +1 reviewed p.L1014 0.999 106 0% 196 38.8% 1 100% - - - superfamily_ARM-type_fold ADNP 23394 genome.wustl.edu 37 20 49510722 49510723 + Frame_Shift_Del DEL AA AA - novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 AA AA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_015339.2 -1 reviewed p.Y177fs 1.000:0.971 - - - - - - - - - HMMSmart_ZnF_C2H2 SALL4 57167 genome.wustl.edu 37 20 50408581 50408581 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_020436.3 -1 reviewed p.P147 0.000 208 0% 356 40.7% 1 0% - - - NULL GNAS 2778 genome.wustl.edu 37 20 57415294 57415295 + Frame_Shift_Ins INS - - T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_016592.2 +1 reviewed p.A46fs 0.973:0.733 - - - - - - - - - HMMPfam_NESP55 LSM14B 149986 genome.wustl.edu 37 20 60701310 60701310 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef ENST00000400318 +1 known p.R107Q 0.003 13 0% 17 35.3% 7 85.7% unknown(0) tolerated(0.19) - NULL CHRNA4 1137 genome.wustl.edu 37 20 61981756 61981756 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_000744.5 -1 reviewed p.R336H 1.000 14 0% 12 41.7% 0 - probably_damaging(0.997) deleterious(0.02) deleterious(0.849) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM IGHV1OR15-5 100384884 genome.wustl.edu 37 21 10862764 10862764 + Missense_Mutation SNP G G T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef ENST00000302092 +1 known p.Q20H 0.524 347 0% 482 28.4% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_V-set USP16 10600 genome.wustl.edu 37 21 30421169 30421169 + Missense_Mutation SNP T T G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001032410.1 +1 reviewed p.F700C 1.000 143 0% 127 55.1% 47 59.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UCH,superfamily_Cysteine proteinases SCAF4 57466 genome.wustl.edu 37 21 33044292 33044292 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_020706.2 -1 reviewed p.A955V 0.400 71 0% 129 43.4% 36 41.6% unknown(0) tolerated(0.27) - NULL SYNJ1 8867 genome.wustl.edu 37 21 34050957 34050957 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_003895.3 -1 validated p.R503H 1.000 114 0% 93 47.3% 1 0% benign(0.002) tolerated(0.72) neutral(0.002) NULL SON 6651 genome.wustl.edu 37 21 34927343 34927343 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_138927.1 +1 reviewed p.R1936C 0.995 50 0% 49 49% 36 47.2% unknown(0) deleterious(0) - NULL DSCAM 1826 genome.wustl.edu 37 21 41385099 41385099 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001389.3 -1 validated p.A1967 0.998 59 0% 124 41.9% 0 - - - - NULL YBEY 54059 genome.wustl.edu 37 21 47707039 47707040 + Splice_Site INS - - AAA rs71318058 byCluster;by1000genomes TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_058181.1 +1 validated e1+2 1.000:0.124 - - - - - - - - - - ZNF74 7625 genome.wustl.edu 37 22 20759868 20759868 + Missense_Mutation SNP G G T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_003426.2 +1 validated p.R182M 0.000 24 0% 27 51.9% 15 80% unknown(0) - - NULL MED15 51586 genome.wustl.edu 37 22 20920813 20920814 + In_Frame_Ins INS - - CAG novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001003891.1 +1 reviewed p.254in_frame_insQ 0.993:0.998 - - - - - - - - - NULL HIC2 23119 genome.wustl.edu 37 22 21799356 21799356 + Silent SNP C C A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_015094.2 +1 validated p.R58 1.000 70 0% 64 42.2% 1 100% - - - HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB IGLV2-33 28811 genome.wustl.edu 37 22 22930946 22930946 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef ENST00000390302 +1 known p.D47 0.180 373 0% 612 11.9% 0 - - - - HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin GNAZ 2781 genome.wustl.edu 37 22 23437997 23437997 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_002073.2 +1 reviewed p.L39 0.999 28 0% 48 50% 1 100% - - - HMMPfam_G-alpha,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases SGSM1 129049 genome.wustl.edu 37 22 25270429 25270429 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001039948.2 +1 validated p.A447T 0.982 30 0% 36 25% 0 - possibly_damaging(0.772) tolerated(0.33) neutral(0.311) NULL TMEM211 255349 genome.wustl.edu 37 22 25331476 25331476 + Missense_Mutation SNP A A G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001001663.1 -1 provisional p.Y72H 0.172 198 0% 348 42.8% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_L_HGMIC_fpl HPS4 89781 genome.wustl.edu 37 22 26849246 26849246 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_022081.4 -1 reviewed p.G694S 0.548 158 0% 213 36.2% 13 61.5% benign(0.417) tolerated(0.42) neutral(0.149) NULL DEPDC5 9681 genome.wustl.edu 37 22 32239088 32239088 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef ENST00000433147 +1 known p.V239I 1.000 131 0% 176 30.7% 3 33.3% - - - NULL APOL1 8542 genome.wustl.edu 37 22 36661562 36661562 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_145343.2 +1 reviewed p.T243I 0.000 177 0% 246 38.2% 9 0% benign(0.003) tolerated(1) - HMMPfam_ApoL MYH9 4627 genome.wustl.edu 37 22 36680170 36680170 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_002473.4 -1 reviewed p.R1912C 1.000 62 0% 83 44.6% 844 40.1% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Myosin_tail_1 FOXRED2 80020 genome.wustl.edu 37 22 36886133 36886133 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001102371.1 -1 validated p.G659 0.000 66 0% 104 14.4% 36 25% - - - NULL ELFN2 114794 genome.wustl.edu 37 22 37769879 37769879 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_052906.3 -1 validated p.G566S 0.003 16 0% 17 35.3% 0 - benign(0.001) deleterious(0.05) neutral(0.345) NULL CARD10 29775 genome.wustl.edu 37 22 37906309 37906314 + In_Frame_Del DEL CTCCTT CTCCTT - rs113275238 byCluster;by1000genomes TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 CTCCTT CTCCTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_014550.3 -1 reviewed p.KE272in_frame_del 0.939:0.949:0.957:0.963:0.966:0.967 - - - - - - - - - NULL TRIOBP 11078 genome.wustl.edu 37 22 38165067 38165067 + Missense_Mutation SNP A A G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001039141.2 +1 reviewed p.Q2203R 1.000 38 0% 44 36.4% 63 41.2% possibly_damaging(0.95) deleterious(0.01) deleterious(0.799) NULL SERHL2 253190 genome.wustl.edu 37 22 42951088 42951088 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_014509.3 +1 provisional p.P56L 0.982 225 0% 227 20.7% 3 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_alpha/beta-Hydrolases PPP6R2 9701 genome.wustl.edu 37 22 50845188 50845188 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_014678.3 +1 validated p.E100K 0.992 341 0% 557 42.2% 22 45.4% benign(0.001) tolerated(0.09) neutral(0.296) NULL SBF1 6305 genome.wustl.edu 37 22 50893150 50893150 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_002972.2 -1 validated p.V1586M 1.000 19 0% 22 45.5% 18 55.5% probably_damaging(0.953) deleterious(0.04) deleterious(0.746) superfamily_(Phosphotyrosine protein) phosphatases II ARSA 410 genome.wustl.edu 37 22 51065261 51065261 + Splice_Site SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_000487.4 -1 reviewed e3+1 1.000 15 0% 30 50% 0 - - - - - ENSG00000210082 0 genome.wustl.edu 37 MT 2975 2975 + RNA SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef ENST00000387347 +1 known NULL NULL 49 0% 18 38.9% 5257 30.3% - - - - RBBP7 5931 genome.wustl.edu 37 X 16871856 16871856 + Missense_Mutation SNP A A G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_002893.3 -1 reviewed p.L236P 1.000 141 0% 201 38.3% 1280 98.1% benign(0) tolerated(0.34) neutral(0.023) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 BEND2 139105 genome.wustl.edu 37 X 18221871 18221871 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_153346.4 -1 validated p.Q219 0.000 414 0% 568 44.9% 0 - - - - NULL CXorf23 256643 genome.wustl.edu 37 X 19948031 19948031 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_198279.3 -1 validated p.P631S 0.114 370 0% 472 10.4% 3 0% benign(0.046) deleterious(0) neutral(0.447) NULL DMD 1756 genome.wustl.edu 37 X 32663085 32663085 + Missense_Mutation SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_004006.2 -1 reviewed p.H382R 1.000 204 0% 263 42.6% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat BCOR 54880 genome.wustl.edu 37 X 39922133 39922133 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001123385.1 -1 reviewed p.L1347 1.000 34 0% 32 53.1% 33 78.7% - - - NULL MED14 9282 genome.wustl.edu 37 X 40514262 40514262 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_004229.3 -1 reviewed p.T1341 0.999 82 0% 128 46.1% 29 96.5% - - - NULL USP9X 8239 genome.wustl.edu 37 X 41043675 41043675 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001039590.2 +1 reviewed p.A1102V 1.000 143 0% 130 13.1% 8 25% benign(0.396) tolerated(0.13) neutral(0.380) NULL PHF16 9767 genome.wustl.edu 37 X 46898451 46898451 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001077445.1 +1 reviewed p.T319M 0.998 120 0% 278 42.8% 6 100% possibly_damaging(0.71) tolerated(0.07) deleterious(0.576) HMMSmart_PHD SSX4 6759 genome.wustl.edu 37 X 48244867 48244867 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_005636.3 +1 reviewed p.N86 0.000 247 0.4% 337 22.8% 0 - - - - NULL TFE3 7030 genome.wustl.edu 37 X 48896769 48896769 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_006521.4 -1 reviewed p.R133C 1.000 14 0% 18 38.9% 20 0% unknown(0) deleterious(0.01) - NULL CACNA1F 778 genome.wustl.edu 37 X 49084508 49084508 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_005183.2 -1 reviewed p.V370I 1.000 92 0% 101 46.5% 0 - possibly_damaging(0.888) deleterious(0) deleterious(0.792) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CCDC22 28952 genome.wustl.edu 37 X 49099756 49099756 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_014008.3 +1 validated p.R181Q 0.613 38 0% 29 62.1% 32 100% benign(0) tolerated(0.29) neutral(0.029) HMMPfam_DUF812 FGD1 2245 genome.wustl.edu 37 X 54492001 54492001 + Missense_Mutation SNP G G T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_004463.2 -1 reviewed p.L507M 1.000 67 0% 108 35.2% 23 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain APEX2 27301 genome.wustl.edu 37 X 55033704 55033704 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_014481.2 +1 reviewed p.R465C 0.080 36 0% 71 45.1% 180 0% possibly_damaging(0.906) deleterious(0.01) deleterious(0.765) NULL RRAGB 10325 genome.wustl.edu 37 X 55758004 55758004 + Missense_Mutation SNP G G T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_016656.3 +1 validated p.E195D 0.998 75 0% 88 33% 2 0% benign(0.006) tolerated(0.27) neutral(0.034) HMMPfam_Gtr1_RagA,superfamily_P-loop containing nucleoside triphosphate hydrolases ZXDA 7789 genome.wustl.edu 37 X 57935717 57935717 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_007156.4 -1 reviewed p.R380C 1.000 92 0% 96 51% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 NLGN3 54413 genome.wustl.edu 37 X 70389345 70389345 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_018977.3 +1 reviewed p.P629S 1.000 56 0% 125 45.6% 1 0% benign(0.111) tolerated(0.06) neutral(0.331) NULL TAF1 6872 genome.wustl.edu 37 X 70598178 70598178 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_004606.3 +1 reviewed p.R363C 1.000 227 0% 428 39.3% 5 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL UPRT 139596 genome.wustl.edu 37 X 74494097 74494097 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_145052.3 +1 reviewed p.T3M 0.814 46 0% 96 36.5% 14 0% possibly_damaging(0.898) tolerated(0.21) neutral(0.398) NULL MAGEE1 57692 genome.wustl.edu 37 X 75649760 75649760 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_020932.2 +1 reviewed p.S479 0.001 88 0% 77 40.3% 0 - - - - NULL ATP7A 538 genome.wustl.edu 37 X 77264626 77264626 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_000052.4 +1 reviewed p.V579I 1.000 490 0.4% 703 45.8% 1 100% probably_damaging(0.998) tolerated(0.13) deleterious(0.727) HMMPfam_HMA,superfamily_HMA heavy metal-associated domain,PatternScan_HMA_1 P2RY10 27334 genome.wustl.edu 37 X 78216615 78216615 + Missense_Mutation SNP A A G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_014499.2 +1 reviewed p.T200A 0.041 409 0% 455 42.6% 2 0% benign(0.001) tolerated(0.3) neutral(0.029) HMMPfam_7tm_1,superfamily_SSF81321 PCDH19 57526 genome.wustl.edu 37 X 99662723 99662723 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001105243.1 -1 reviewed p.I291 0.056 72 0% 55 10.9% 4 0% - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin CSTF2 1478 genome.wustl.edu 37 X 100093336 100093336 + Missense_Mutation SNP A A T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001325.2 +1 reviewed p.T574S 1.000 259 0% 287 21.3% 24 0% probably_damaging(0.971) deleterious(0) deleterious(0.857) NULL NOX1 27035 genome.wustl.edu 37 X 100117554 100117554 + Missense_Mutation SNP C C A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_007052.4 -1 reviewed p.E166D 0.027 345 0.3% 678 38.3% 0 - benign(0.277) tolerated(0.58) neutral(0.034) HMMPfam_Ferric_reduct GUCY2F 2986 genome.wustl.edu 37 X 108647678 108647678 + Silent SNP A A G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001522.2 -1 reviewed p.H668 1.000 327 0.3% 377 40.6% 0 - - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) NXT2 55916 genome.wustl.edu 37 X 108780177 108780177 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_018698.3 +1 provisional p.R36Q 0.000 42 0% 69 40.6% 11 0% benign(0.006) tolerated(0.32) neutral(0.024) NULL RGAG1 57529 genome.wustl.edu 37 X 109695531 109695531 + Silent SNP A A G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_020769.2 +1 validated p.T562 0.147 651 0.2% 700 40.7% 0 - - - - NULL HTR2C 3358 genome.wustl.edu 37 X 114141289 114141289 + Missense_Mutation SNP A A G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_000868.2 +1 reviewed p.M230V 1.000 338 0.6% 374 42.8% 0 - unknown(0) deleterious(0) - HMMPfam_7tm_1,superfamily_SSF81321 PLS3 5358 genome.wustl.edu 37 X 114874747 114874747 + Missense_Mutation SNP A A G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001136025.3 +1 reviewed p.N307D 1.000 269 0% 325 39.4% 22 0% benign(0.001) tolerated(0.08) neutral(0.300) HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain DOCK11 139818 genome.wustl.edu 37 X 117744326 117744326 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_144658.3 +1 validated p.A1014V 0.019 197 0% 230 51.3% 1 0% benign(0) deleterious(0.01) neutral(0.406) NULL NKRF 55922 genome.wustl.edu 37 X 118724020 118724020 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_017544.3 -1 reviewed p.N456 0.107 170 0% 226 47.3% 13 100% - - - HMMSmart_SM00358,superfamily_dsRNA-binding domain-like LAMP2 3920 genome.wustl.edu 37 X 119580249 119580249 + Missense_Mutation SNP T T G novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001122606.1 -1 reviewed p.T259P 0.290 300 0% 410 47.8% 271 96.6% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Lamp CT47B1 643311 genome.wustl.edu 37 X 120009193 120009193 + Missense_Mutation SNP G G A rs191882380 by1000genomes TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001145718.1 -1 validated p.A111V 0.000 53 0% 43 41.9% 0 - benign(0) tolerated(0.58) neutral(0.005) NULL ARHGAP36 158763 genome.wustl.edu 37 X 130220541 130220541 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_144967.3 +1 validated p.R463H 0.012 339 0% 408 42.6% 0 - probably_damaging(0.995) tolerated(0.06) deleterious(0.780) NULL MBNL3 55796 genome.wustl.edu 37 X 131540407 131540407 + Missense_Mutation SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_018388.3 -1 reviewed p.R64Q 1.000 211 0% 254 43.7% 2 0% probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_zf-CCCH,HMMSmart_SM00356 DDX26B 203522 genome.wustl.edu 37 X 134711279 134711279 + Silent SNP C C T novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_182540.4 +1 validated p.G645 1.000 490 0.2% 841 39.4% 0 - - - - NULL ARHGEF6 9459 genome.wustl.edu 37 X 135862955 135862957 + In_Frame_Del DEL CTC CTC - novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_004840.2 -1 reviewed p.E29in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain ZIC3 7547 genome.wustl.edu 37 X 136649449 136649449 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_003413.3 +1 reviewed p.R200H 1.000 31 0% 38 39.5% 0 - benign(0.017) tolerated(0.16) neutral(0.060) NULL ATP11C 286410 genome.wustl.edu 37 X 138857001 138857001 + Silent SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_173694.4 -1 validated p.C691 0.982 389 0% 481 34.5% 8 0% - - - superfamily_HAD-like HMGB3 3149 genome.wustl.edu 37 X 150156352 150156354 + In_Frame_Del DEL GAA GAA - novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_005342.2 +1 validated p.E193in_frame_del 0.988:0.832:0.088 - - - - - - - - - NULL ZNF275 10838 genome.wustl.edu 37 X 152612790 152612790 + Missense_Mutation SNP G G A novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_001080485.2 +1 validated p.R216Q 0.001 397 0% 570 43.7% 8 100% benign(0.003) tolerated(0.1) neutral(0.286) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SRPK3 26576 genome.wustl.edu 37 X 153050905 153050905 + Missense_Mutation SNP T T C novel TCGA-A5-A0GB-01A-11W-A062-09 TCGA-A5-A0GB-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 92efbf13-cebe-4c13-9b8d-69584b543ad5 fc066a5f-81a2-45f3-9a54-d2e8aea3f9ef NM_014370.3 +1 reviewed p.M545T 1.000 20 0% 13 30.8% 16 0% possibly_damaging(0.822) deleterious(0) deleterious(0.756) superfamily_Kinase_like,HMMPfam_Pkinase