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 KIAA1751 85452 genome.wustl.edu 37 1 1896434 1896434 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001080484.1 -1 predicted p.R490C 0.006 25 0% 28 39.3% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL TP73 7161 genome.wustl.edu 37 1 3598964 3598964 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_005427.2 +1 reviewed p.G12D 0.950 15 0% 11 45.5% 0 - probably_damaging(0.976) tolerated(0.86) neutral(0.418) NULL SRRM1 10250 genome.wustl.edu 37 1 24996069 24996069 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_005839.3 +1 validated p.K732T 1.000 37 0% 65 43.1% 18 38.8% unknown(0) deleterious(0.01) - NULL PIGV 55650 genome.wustl.edu 37 1 27120898 27120898 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_017837.2 +1 validated p.L125V 0.823 181 0% 201 46.3% 17 64.7% benign(0.01) tolerated(0.56) neutral(0.007) HMMPfam_Mannosyl_trans2 EPB41 2035 genome.wustl.edu 37 1 29365895 29365895 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_203343.2 +1 reviewed p.F496 0.980 68 0% 111 56.8% 4 25% - - - HMMPfam_FA,superfamily_SSF50729 LOC100288450 100288450 genome.wustl.edu 37 1 29814726 29814726 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 XM_002342037.1 -1 model p.Y106 0.997 8 0.000 12 0.417 0 - - - - NULL COL16A1 1307 genome.wustl.edu 37 1 32127292 32127292 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001856.3 -1 reviewed p.P1232H 0.547 53 0% 61 50.8% 18 38.8% unknown(0) tolerated(0.12) - HMMPfam_Collagen COL16A1 1307 genome.wustl.edu 37 1 32165441 32165441 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001856.3 -1 reviewed p.G80E 1.000 78 0% 74 44.6% 2 0% unknown(0) deleterious(0) - HMMSmart_SM00210 SPOCD1 90853 genome.wustl.edu 37 1 32280086 32280086 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_144569.4 -1 provisional p.E283D 0.000 10 0% 11 45.5% 0 - benign(0.181) - - NULL ZSCAN20 7579 genome.wustl.edu 37 1 33960964 33960964 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_145238.3 +1 validated p.R1007I 1.000 43 0% 74 44.6% 0 - possibly_damaging(0.936) deleterious(0.02) deleterious(0.764) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CSMD2 114784 genome.wustl.edu 37 1 33992823 33992823 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_052896.3 -1 validated p.R3259W 1.000 89 0% 118 48.3% 0 - probably_damaging(0.972) tolerated(0.09) deleterious(0.710) NULL C1orf94 84970 genome.wustl.edu 37 1 34677973 34677973 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001134734.1 +1 validated p.D563N 1.000 78 0% 103 54.4% 0 - possibly_damaging(0.801) deleterious(0) deleterious(0.746) NULL GRIK3 2899 genome.wustl.edu 37 1 37271817 37271817 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000831.3 -1 reviewed p.Y734 1.000 61 0% 73 39.7% 2 0% - - - HMMPfam_Lig_chan,HMMSmart_PBPe,superfamily_SSF53850 RSPO1 284654 genome.wustl.edu 37 1 38079995 38079995 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001038633.2 -1 reviewed p.I99 0.082 22 0% 29 41.4% 1 0% - - - HMMSmart_SM00261,superfamily_Growth factor receptor domain MACF1 23499 genome.wustl.edu 37 1 39800837 39800837 + Silent SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_033044.2 +1 reviewed p.S1299 0.029 113 0% 131 42.7% 0 - - - - superfamily_SSF75399 KIAA0754 643314 genome.wustl.edu 37 1 39878348 39878348 + Nonsense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_015038.1 +1 predicted p.S804* 0.001 65 0% 87 37.9% 0 - - - - NULL ZMPSTE24 10269 genome.wustl.edu 37 1 40758120 40758120 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_005857.3 +1 reviewed p.L403I 1.000 87 0% 129 45.7% 0 - benign(0.172) tolerated(0.41) neutral(0.030) HMMPfam_Peptidase_M48 WDR65 149465 genome.wustl.edu 37 1 43647494 43647494 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_152498.3 +1 validated p.I149 0.000 59 0% 65 43.1% 0 - - - - HMMSmart_WD40,superfamily_WD40_like DMAP1 55929 genome.wustl.edu 37 1 44684374 44684374 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001034023.1 +1 reviewed p.E223K 1.000 55 0% 45 42.2% 87 49.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL NASP 4678 genome.wustl.edu 37 1 46083244 46083244 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_172164.1 +1 reviewed p.S758L 0.032 60 0% 78 34.6% 715 42.3% benign(0.139) deleterious(0.03) neutral(0.377) NULL PIK3R3 8503 genome.wustl.edu 37 1 46527650 46527650 + Nonsense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001114172.1 -1 validated p.E239* 1.000 317 0% 485 43.9% 0 - - - - NULL STIL 6491 genome.wustl.edu 37 1 47767283 47767283 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001048166.1 -1 reviewed p.S135A 0.502 123 0% 160 45% 0 - possibly_damaging(0.947) tolerated(0.07) deleterious(0.710) NULL SPATA6 54558 genome.wustl.edu 37 1 48865309 48865309 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_019073.1 -1 provisional p.F165C 0.166 289 0% 372 48.4% 0 - benign(0.207) tolerated(0.2) neutral(0.069) NULL ZCCHC11 23318 genome.wustl.edu 37 1 52954676 52954676 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001009881.1 -1 validated p.D474N 1.000 67 0% 126 11.1% 2 0% probably_damaging(0.999) tolerated(0.06) deleterious(0.813) superfamily_Nucleotidyltransferase INADL 10207 genome.wustl.edu 37 1 62393411 62393411 + Missense_Mutation SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_176877.2 +1 reviewed p.T1194A 0.925 159 0% 165 42.4% 2 100% benign(0.001) tolerated(0.76) neutral(0.001) NULL ATG4C 84938 genome.wustl.edu 37 1 63284957 63284957 + Missense_Mutation SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_032852.2 +1 reviewed p.K226E 1.000 194 0% 276 43.8% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Peptidase_C54 CACHD1 57685 genome.wustl.edu 37 1 65157244 65157244 + Silent SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_020925.2 +1 validated p.*1224 0.995 71 0% 90 38.9% 33 48.4% - - - NULL IL12RB2 3595 genome.wustl.edu 37 1 67838398 67838398 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001559.2 +1 reviewed p.M550R 0.173 48 0% 72 38.9% 0 - benign(0.001) tolerated(0.77) neutral(0.001) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III LRRC40 55631 genome.wustl.edu 37 1 70618193 70618193 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_017768.4 -1 validated p.V454 1.000 114 0% 138 44.9% 2 50% - - - superfamily_SSF52058 C1orf173 127254 genome.wustl.edu 37 1 75108756 75108756 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001002912.4 -1 validated p.K90N 1.000 181 0% 228 43.9% 0 - probably_damaging(0.98) deleterious(0.02) deleterious(0.807) NULL SLC44A5 204962 genome.wustl.edu 37 1 75672389 75672389 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_152697.4 -1 validated p.R688I 1.000 248 0% 347 42.9% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_DUF580 MSH4 4438 genome.wustl.edu 37 1 76345821 76345821 + Silent SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002440.2 +1 validated p.I588 1.000 161 0% 230 49.6% 0 - - - - HMMPfam_MutS_III,HMMSmart_MUTSd,superfamily_DNA_repair_MutS_domIII AK5 26289 genome.wustl.edu 37 1 77759637 77759637 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_174858.1 +1 reviewed p.L136R 1.000 83 0% 107 50.5% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_P-loop containing nucleoside triphosphate hydrolases FUBP1 8880 genome.wustl.edu 37 1 78428511 78428511 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_003902.3 -1 reviewed p.R430C 1.000 248 0% 339 44.2% 13 38.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) SPATA1 100505741 genome.wustl.edu 37 1 84998600 84998600 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001081472.1 +1 validated p.S223Y 0.100 143 0% 203 43.8% 0 - - - - NULL CTBS 1486 genome.wustl.edu 37 1 85029018 85029018 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_004388.2 -1 validated p.T293 0.000 130 0% 182 43.4% 6 50% - - - HMMPfam_Glyco_hydro_18,HMMSmart_SM00636,superfamily_(Trans)glycosidases SSX2IP 117178 genome.wustl.edu 37 1 85121643 85121643 + Nonsense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_014021.3 -1 reviewed p.R421* 0.994 206 0% 264 38.6% 2 0% - - - NULL WDR63 126820 genome.wustl.edu 37 1 85595745 85595745 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_145172.3 +1 validated p.R828C 0.983 97 0% 103 44.7% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CLCA4 22802 genome.wustl.edu 37 1 87025615 87025615 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_012128.3 +1 reviewed p.D54N 0.908 67 0% 104 44.2% 0 - benign(0.049) tolerated(0.23) neutral(0.045) HMMPfam_CLCA_N RBMXL1 494115 genome.wustl.edu 37 1 89449383 89449383 + Missense_Mutation SNP G G A rs71216132 TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000321792 -1 known p.R43C 1.000 291 0% 387 33.1% 8 12.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 ZNF644 84146 genome.wustl.edu 37 1 91406185 91406185 + Silent SNP C C T rs148356542 by1000genomes TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_201269.1 -1 validated p.T242 1.000 286 0% 388 39.7% 2 50% - - - NULL EPHX4 253152 genome.wustl.edu 37 1 92508478 92508478 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_173567.4 +1 validated p.R139Q 0.996 148 0% 193 43% 0 - benign(0.014) tolerated(0.51) neutral(0.009) HMMPfam_Abhydrolase_1,superfamily_SSF53474 GLMN 11146 genome.wustl.edu 37 1 92754608 92754608 + Silent SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_053274.2 -1 reviewed p.Q165 0.997 165 0% 217 50.7% 2 0% - - - HMMPfam_FKBP12 COL11A1 1301 genome.wustl.edu 37 1 103345392 103345392 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_080629.2 -1 reviewed p.R1719 1.000 87 0% 109 43.1% 0 - - - - HMMPfam_COLFI,HMMSmart_COLFI AKNAD1 254268 genome.wustl.edu 37 1 109380274 109380274 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_152763.3 -1 validated p.E478D 0.139 262 0% 369 36.6% 0 - benign(0.017) tolerated(0.21) neutral(0.044) NULL ST7L 54879 genome.wustl.edu 37 1 113134159 113134159 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_017744.4 -1 reviewed p.E230A 1.000 167 0% 268 44% 2 50% possibly_damaging(0.944) tolerated(0.38) neutral(0.406) HMMPfam_ST7 SYCP1 6847 genome.wustl.edu 37 1 115420748 115420748 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_003176.2 +1 validated p.E279K 1.000 97 0% 145 46.9% 0 - benign(0.4) deleterious(0.02) deleterious(0.512) HMMPfam_SCP-1 SLC22A15 55356 genome.wustl.edu 37 1 116574156 116574156 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_018420.2 +1 validated p.R300C 0.994 88 0% 156 44.9% 0 - benign(0.251) tolerated(0.1) neutral(0.312) superfamily_MFS general substrate transporter CD58 965 genome.wustl.edu 37 1 117057253 117057253 + RNA SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NR_026665.1 -1 reviewed NULL 0.000 31 0% 28 35.7% 1 0% - - - - LOC100131261 100131261 genome.wustl.edu 37 1 118320927 118320927 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 XM_001720964.1 -1 model p.F68V 1.000 61 0% 66 42.4% 0 - - - - NULL SPAG17 200162 genome.wustl.edu 37 1 118539232 118539232 + Silent SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_206996.2 -1 validated p.E1637 1.000 211 0% 280 42.5% 0 - - - - NULL HSD3B2 3284 genome.wustl.edu 37 1 119962178 119962178 + Missense_Mutation SNP G G A rs6211 byCluster;byFrequency;byHapMap;by1000genomes TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000198.3 +1 reviewed p.E94K 0.026 77 0% 118 43.2% 0 - benign(0.004) tolerated(0.28) neutral(0.032) HMMPfam_3Beta_HSD,superfamily_NAD(P)-binding Rossmann-fold domains LOC100132733 100132733 genome.wustl.edu 37 1 143230385 143230385 + Nonsense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 XM_001715342.2 -1 model p.S73* 0.455 1183 0% 1765 14% 0 - - - - NULL CHD1L 9557 genome.wustl.edu 37 1 146740479 146740479 + Missense_Mutation SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_004284.3 +1 validated p.T343A 0.970 249 0% 313 47% 4 0% benign(0.012) deleterious(0.03) neutral(0.365) superfamily_P-loop containing nucleoside triphosphate hydrolases PI4KB 5298 genome.wustl.edu 37 1 151276082 151276082 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002651.1 -1 provisional p.F497L 1.000 99 0% 85 43.5% 45 44.4% benign(0.003) tolerated(0.37) neutral(0.019) superfamily_Protein kinase-like (PK-like) FLG 2312 genome.wustl.edu 37 1 152275759 152275759 + Missense_Mutation SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002016.1 -1 reviewed p.D3868G 0.046 171 0% 210 47.1% 0 - unknown(0) tolerated(0.53) - HMMPfam_Filaggrin FLG 2312 genome.wustl.edu 37 1 152276336 152276336 + Missense_Mutation SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002016.1 -1 reviewed p.T3676A 0.000 135 0% 171 36.3% 0 - possibly_damaging(0.725) tolerated(0.4) neutral(0.280) NULL PGLYRP3 114771 genome.wustl.edu 37 1 153276355 153276355 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_052891.1 -1 provisional p.Q169H 0.001 96 0% 116 39.7% 0 - benign(0.005) tolerated(0.23) neutral(0.042) HMMPfam_Amidase_2,HMMSmart_Ami_2 GON4L 54856 genome.wustl.edu 37 1 155735914 155735914 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001037533.1 -1 validated p.R1117Q 0.013 123 0% 176 48.3% 7 57.1% possibly_damaging(0.9) tolerated(0.14) deleterious(0.606) NULL SYT11 23208 genome.wustl.edu 37 1 155838481 155838481 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_152280.4 +1 reviewed p.R254W 1.000 45 0% 61 45.9% 16 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB MEF2D 4209 genome.wustl.edu 37 1 156449095 156449095 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_005920.2 -1 provisional p.C217 0.999 45 0% 36 33.3% 19 10.5% - - - NULL FCRL4 83417 genome.wustl.edu 37 1 157548416 157548416 + Silent SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000438714 -1 known p.R502 0.000 82 1.2% 114 43.9% 0 - - - - NULL CD1A 909 genome.wustl.edu 37 1 158224988 158224988 + Missense_Mutation SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001763.2 +1 reviewed p.D58G 0.113 99 0% 138 47.1% 0 - benign(0.029) deleterious(0.02) neutral(0.385) HMMPfam_MHC_I,superfamily_MHC_I/II-like_Ag-recog MNDA 4332 genome.wustl.edu 37 1 158813902 158813902 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002432.1 +1 reviewed p.S187L 0.001 239 0% 320 86.6% 1 0% possibly_damaging(0.8) tolerated(0.22) neutral(0.343) NULL CCDC19 25790 genome.wustl.edu 37 1 159846520 159846520 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_012337.2 -1 validated p.R393H 1.000 96 0% 141 44.7% 128 47.6% probably_damaging(0.972) tolerated(0.14) deleterious(0.663) NULL NCSTN 23385 genome.wustl.edu 37 1 160321968 160321968 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_015331.2 +1 reviewed p.R323H 1.000 72 0% 89 12.4% 30 30% benign(0.011) tolerated(0.05) neutral(0.346) HMMPfam_Nicastrin,superfamily_Zn-dependent exopeptidases SLAMF6 114836 genome.wustl.edu 37 1 160461123 160461123 + Silent SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_052931.4 -1 reviewed p.T146 0.985 81 0% 124 44.4% 0 - - - - superfamily_Immunoglobulin DDR2 4921 genome.wustl.edu 37 1 162745450 162745450 + Missense_Mutation SNP T T A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001014796.1 +1 reviewed p.F622Y 1.000 79 0% 118 44.1% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like UCK2 7371 genome.wustl.edu 37 1 165860501 165860501 + Nonsense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_012474.3 +1 reviewed p.E100* 1.000 90 0% 132 43.2% 11 18.1% - - - HMMPfam_PRK,superfamily_P-loop containing nucleoside triphosphate hydrolases TADA1 117143 genome.wustl.edu 37 1 166829432 166829432 + Missense_Mutation SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_053053.3 -1 validated p.L228S 0.821 109 0.9% 161 47.2% 7 57.1% benign(0.001) tolerated(0.15) neutral(0.241) NULL ADCY10 55811 genome.wustl.edu 37 1 167792252 167792252 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_018417.4 -1 reviewed p.Y1388D 0.996 191 0% 276 47.1% 0 - probably_damaging(0.999) tolerated(0.59) deleterious(0.495) superfamily_TPR-like ADCY10 55811 genome.wustl.edu 37 1 167815028 167815028 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_018417.4 -1 reviewed p.R927Q 0.362 104 0% 150 44.7% 0 - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL TBX19 9095 genome.wustl.edu 37 1 168250354 168250354 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_005149.2 +1 reviewed p.R9Q 0.000 44 0% 71 40.8% 0 - benign(0.001) tolerated(0.63) neutral(0.004) NULL BLZF1 8548 genome.wustl.edu 37 1 169349822 169349822 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_003666.2 +1 validated p.R258C 0.999 111 0% 155 52.9% 6 33.3% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL LOC646804 646804 genome.wustl.edu 37 1 171053032 171053032 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 XM_929761.3 +1 model p.L134I 0.968 94 0% 113 52.2% 0 - - - - NULL FMO2 2327 genome.wustl.edu 37 1 171173094 171173094 + Missense_Mutation SNP C C T rs145420492 TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001460.2 +1 reviewed p.R240C 0.007 85 0% 120 48.3% 0 - possibly_damaging(0.643) tolerated(0.21) neutral(0.270) HMMPfam_FMO-like,superfamily_SSF51905 METTL13 51603 genome.wustl.edu 37 1 171759640 171759640 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_015935.4 +1 validated p.A453V 0.002 44 0% 51 39.2% 30 36.6% benign(0.001) tolerated(0.46) neutral(0.012) superfamily_S-adenosyl-L-methionine-dependent methyltransferases AXDND1 126859 genome.wustl.edu 37 1 179414325 179414325 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_144696.4 +1 validated p.I595R 1.000 114 0% 165 44.8% 0 - unknown(0) deleterious(0.01) - NULL CACNA1E 777 genome.wustl.edu 37 1 181453140 181453140 + Missense_Mutation SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000721.2 +1 reviewed p.D87G 1.000 23 0% 14 64.3% 0 - probably_damaging(0.959) deleterious(0.01) deleterious(0.808) superfamily_Voltage-gated potassium channels LAMC1 3915 genome.wustl.edu 37 1 183084751 183084751 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002293.3 +1 reviewed p.S436Y 1.000 104 0% 121 43% 64 28.1% probably_damaging(0.976) tolerated(0.07) deleterious(0.737) HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,PatternScan_EGF_LAM_1,superfamily_Grow_fac_recept FAM58BP 339521 genome.wustl.edu 37 1 200183217 200183217 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001105517.1 +1 provisional p.A176T 1.000 29 0% 33 45.5% 0 - - - - superfamily_Cyclin_like ADORA1 134 genome.wustl.edu 37 1 203134411 203134411 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000674.2 +1 reviewed p.R122W 0.869 67 0% 56 44.6% 7 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PRELP 5549 genome.wustl.edu 37 1 203452873 203452873 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002725.3 +1 reviewed p.P187 0.000 25 0% 32 37.5% 3 0% - - - HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364,superfamily_L domain-like NFASC 23114 genome.wustl.edu 37 1 204923458 204923458 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_015090.3 +1 reviewed p.A114T 1.000 62 0% 34 44.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726 FAM72A 729533 genome.wustl.edu 37 1 206141509 206141509 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001123168.1 +1 predicted p.I72 0.949 464 0.2% 623 15.6% 3 0% - - - NULL C1orf186 440712 genome.wustl.edu 37 1 206239531 206239531 + Nonsense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000331555 -1 known p.E123* 0.001 151 0% 200 46.5% 2 0% - - - NULL CR2 1380 genome.wustl.edu 37 1 207646922 207646922 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001006658.2 +1 reviewed p.R671C 0.000 85 0% 124 49.2% 0 - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module SYT14 255928 genome.wustl.edu 37 1 210334290 210334290 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_153262.2 +1 validated p.L524R 1.000 150 0% 218 39.4% 0 - possibly_damaging(0.76) tolerated(0.67) neutral(0.284) HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) MIA3 375056 genome.wustl.edu 37 1 222833085 222833085 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_198551.2 +1 validated p.R1606C 1.000 211 0% 302 45.4% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL BROX 148362 genome.wustl.edu 37 1 222903454 222903454 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_144695.2 +1 validated p.F308L 1.000 115 0% 174 49.4% 1 0% probably_damaging(0.99) deleterious(0.03) deleterious(0.806) HMMPfam_BRO1 OBSCN 84033 genome.wustl.edu 37 1 228461005 228461005 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000359599 +1 known p.A518T 0.023 33 0% 42 50% 9 66.6% probably_damaging(0.985) tolerated(0.57) neutral(0.438) HMMPfam_I-set,superfamily_Immunoglobulin OBSCN 84033 genome.wustl.edu 37 1 228557766 228557766 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001098623.1 +1 reviewed p.F6697L 0.129 28 0% 28 39.3% 6 0% benign(0.133) deleterious(0) neutral(0.456) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SIPA1L2 57568 genome.wustl.edu 37 1 232626734 232626734 + Silent SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_020808.3 -1 validated p.L564 0.066 66 0% 89 41.6% 1 100% - - - superfamily_Rap/Ran-GAP (Pfam 02145) ARID4B 51742 genome.wustl.edu 37 1 235345691 235345691 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_016374.5 -1 reviewed p.N848T 0.998 268 0.4% 420 45.5% 0 - benign(0.002) tolerated(0.22) neutral(0.042) NULL ARID4B 51742 genome.wustl.edu 37 1 235345793 235345793 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_016374.5 -1 reviewed p.K814T 0.998 322 0.3% 453 43.9% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL LYST 1130 genome.wustl.edu 37 1 235875429 235875429 + Nonsense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000081.2 -1 reviewed p.E3285* 1.000 81 0% 108 43.5% 0 - - - - HMMPfam_Beach,superfamily_BEACH domain LYST 1130 genome.wustl.edu 37 1 235929422 235929422 + Silent SNP G G A rs80338660 TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000081.2 -1 reviewed p.Y2026 0.997 219 0% 318 44.7% 0 - - - - NULL LYST 1130 genome.wustl.edu 37 1 235973226 235973226 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000081.2 -1 reviewed p.D298N 1.000 34 0% 45 42.2% 0 - probably_damaging(0.998) tolerated(0.33) deleterious(0.498) NULL RYR2 6262 genome.wustl.edu 37 1 237494265 237494265 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001035.2 +1 reviewed p.V86M 0.715 107 0% 148 45.9% 0 - benign(0.002) - - HMMPfam_Ins145_P3_rec RYR2 6262 genome.wustl.edu 37 1 237982494 237982494 + Splice_Site SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001035.2 +1 reviewed e101+2 1.000 251 0% 230 43.9% 0 - - - - - C1orf101 257044 genome.wustl.edu 37 1 244780960 244780960 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001130957.1 +1 validated p.R874C 0.864 293 0% 464 43.1% 0 - probably_damaging(0.997) tolerated(0.08) deleterious(0.766) NULL NLRP3 114548 genome.wustl.edu 37 1 247582327 247582327 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001079821.2 +1 reviewed p.A77 0.001 63 0% 84 46.4% 0 - - - - HMMPfam_PAAD_DAPIN,superfamily_DEATH_like NLRP3 114548 genome.wustl.edu 37 1 247582372 247582372 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001079821.2 +1 reviewed p.P92 0.000 87 0% 98 52% 0 - - - - superfamily_DEATH_like OR2W3 343171 genome.wustl.edu 37 1 248058939 248058939 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001001957.2 +1 provisional p.F17L 0.433 57 0% 63 44.4% 0 - benign(0.334) tolerated(0.25) neutral(0.142) superfamily_SSF81321 OR14C36 127066 genome.wustl.edu 37 1 248512557 248512557 + Missense_Mutation SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001001918.1 +1 provisional p.T161A 0.009 111 0% 117 47% 0 - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMPfam_7tm_1,superfamily_SSF81321 OR14C36 127066 genome.wustl.edu 37 1 248512601 248512601 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001001918.1 +1 provisional p.F175L 0.941 153 0% 165 37.6% 0 - probably_damaging(0.998) deleterious(0.05) deleterious(0.820) HMMPfam_7tm_1,superfamily_SSF81321 OR2T4 127074 genome.wustl.edu 37 1 248525701 248525701 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001004696.1 +1 provisional p.C273 0.115 171 0% 225 45.3% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR2T1 26696 genome.wustl.edu 37 1 248569976 248569976 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_030904.1 +1 provisional p.F227L 0.888 259 0.4% 317 32.5% 0 - probably_damaging(0.994) tolerated(0.12) deleterious(0.713) HMMPfam_7tm_1,superfamily_SSF81321 MYT1L 23040 genome.wustl.edu 37 2 1926672 1926672 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_015025.2 -1 validated p.S290L 0.333 111 0% 131 45% 0 - benign(0.006) tolerated(0.05) neutral(0.345) NULL KLF11 8462 genome.wustl.edu 37 2 10188451 10188451 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_003597.4 +1 reviewed p.F329 0.942 99 0% 104 43.3% 21 52.3% - - - NULL SMC6 79677 genome.wustl.edu 37 2 17860143 17860143 + Nonsense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001142286.1 -1 validated p.E965* 1.000 161 0% 189 41.8% 4 50% - - - HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases PUM2 23369 genome.wustl.edu 37 2 20508299 20508299 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_015317.1 -1 provisional p.R189C 1.000 65 0% 85 41.2% 0 - probably_damaging(0.973) deleterious(0.01) deleterious(0.821) NULL APOB 338 genome.wustl.edu 37 2 21233605 21233605 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000384.2 -1 reviewed p.A2045 0.000 173 0% 196 40.8% 0 - - - - NULL ITSN2 50618 genome.wustl.edu 37 2 24431142 24431142 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_006277.2 -1 reviewed p.D1548N 1.000 75 0% 102 39.2% 0 - possibly_damaging(0.73) tolerated(0.21) neutral(0.310) superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_PH domain-like DNAJC5G 285126 genome.wustl.edu 37 2 27503072 27503072 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_173650.1 +1 provisional p.D187Y 0.008 207 0% 259 40.2% 0 - possibly_damaging(0.517) deleterious(0) deleterious(0.619) NULL NLRC4 58484 genome.wustl.edu 37 2 32476336 32476336 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000360906 -1 known p.F199 0.585 51 0% 79 50.6% 0 - - - - HMMPfam_NACHT,superfamily_P-loop containing nucleoside triphosphate hydrolases BIRC6 57448 genome.wustl.edu 37 2 32689802 32689802 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_016252.3 +1 reviewed p.E1723K 1.000 232 0% 316 47.8% 1 0% probably_damaging(0.971) tolerated(0.23) neutral(0.454) NULL HEATR5B 54497 genome.wustl.edu 37 2 37289162 37289162 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_019024.1 -1 validated p.R539Q 1.000 169 0% 251 44.6% 1 100% probably_damaging(0.998) tolerated(0.1) deleterious(0.761) superfamily_ARM repeat PRKD3 23683 genome.wustl.edu 37 2 37501725 37501725 + Missense_Mutation SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_005813.3 -1 reviewed p.V497A 1.000 127 0% 156 37.2% 6 33.3% possibly_damaging(0.743) deleterious(0) deleterious(0.717) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like ABCG5 64240 genome.wustl.edu 37 2 44051398 44051398 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_022436.2 -1 reviewed p.D360Y 1.000 182 0% 246 41.9% 0 - probably_damaging(0.979) deleterious(0.01) deleterious(0.828) NULL ABCG8 64241 genome.wustl.edu 37 2 44066196 44066196 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_022437.2 +1 reviewed p.A2T 0.945 10 0% 11 63.6% 0 - benign(0.273) deleterious(0) deleterious(0.474) NULL LHCGR 3973 genome.wustl.edu 37 2 48914915 48914915 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000233.3 -1 reviewed p.S674F 0.005 90 0% 89 30.3% 0 - possibly_damaging(0.502) deleterious(0) deleterious(0.612) NULL LHCGR 3973 genome.wustl.edu 37 2 48941139 48941139 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000233.3 -1 reviewed p.T197 0.931 188 0% 258 43.8% 0 - - - - superfamily_L domain-like LHCGR 3973 genome.wustl.edu 37 2 48950794 48950794 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000233.3 -1 reviewed p.T142M 0.999 161 0% 214 45.8% 0 - probably_damaging(0.993) deleterious(0) deleterious(0.895) superfamily_L domain-like ASB3 51130 genome.wustl.edu 37 2 53992689 53992689 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_016115.3 -1 reviewed p.Y7 0.162 96 0% 122 37.7% 4 50% - - - NULL SPTBN1 6711 genome.wustl.edu 37 2 54880862 54880862 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_003128.2 +1 reviewed p.D1898 0.931 27 0% 18 50% 40 62.5% - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat RTN4 57142 genome.wustl.edu 37 2 55253601 55253601 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_020532.4 -1 reviewed p.N545T 0.022 190 0.5% 286 44.8% 0 - benign(0) tolerated(0.97) - NULL SMEK2 57223 genome.wustl.edu 37 2 55825648 55825648 + Silent SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001122964.1 -1 validated p.I275 1.000 93 0% 119 44.5% 2 100% - - - HMMPfam_DUF625,superfamily_ARM repeat PNPT1 87178 genome.wustl.edu 37 2 55883448 55883448 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_033109.3 -1 validated p.L448R 1.000 279 0% 374 44.7% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_RNase_PH,superfamily_Ribosomal_S5_D2-typ_fold WDPCP 51057 genome.wustl.edu 37 2 63664586 63664586 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_015910.4 -1 validated p.R201I 1.000 146 0% 205 38% 0 - probably_damaging(0.984) deleterious(0.02) deleterious(0.814) NULL BMP10 27302 genome.wustl.edu 37 2 69093496 69093496 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_014482.1 -1 reviewed p.R181I 0.771 155 0% 164 41.5% 0 - benign(0.017) tolerated(0.17) neutral(0.059) HMMPfam_TGFb_propeptide GMCL1 64395 genome.wustl.edu 37 2 70064778 70064778 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_178439.3 +1 provisional p.S120 1.000 113 0% 159 48.4% 0 - - - - HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB CLEC4F 165530 genome.wustl.edu 37 2 71039680 71039680 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_173535.2 -1 validated p.L480V 0.152 53 0% 53 37.7% 0 - possibly_damaging(0.8) deleterious(0.05) deleterious(0.646) superfamily_C-type_lectin_fold DQX1 165545 genome.wustl.edu 37 2 74745582 74745582 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_133637.2 -1 validated p.V715 1.000 69 0% 78 51.3% 2 100% - - - NULL HK2 3099 genome.wustl.edu 37 2 75113463 75113463 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000189.4 +1 reviewed p.G660R 1.000 178 0% 251 51.8% 64 29.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Hexokinase_1,superfamily_SSF53067 TACR1 6869 genome.wustl.edu 37 2 75425876 75425876 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001058.3 -1 reviewed p.R62I 1.000 155 0% 227 41% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like LRRTM1 347730 genome.wustl.edu 37 2 80530141 80530141 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_178839.4 -1 validated p.I268 1.000 39 0% 25 48% 489 41.3% - - - HMMPfam_LRR_1,superfamily_SSF52058 DNAH6 1768 genome.wustl.edu 37 2 84931283 84931283 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001370.1 +1 validated p.D2774 0.978 114 0% 125 49.6% 2 0% - - - NULL TSGA10 80705 genome.wustl.edu 37 2 99636836 99636836 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_025244.2 -1 validated p.R575Q 1.000 169 0% 227 43.6% 0 - probably_damaging(0.997) tolerated(0.12) deleterious(0.727) NULL LONRF2 164832 genome.wustl.edu 37 2 100917170 100917170 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_198461.3 -1 validated p.A334V 0.008 135 0% 137 45.3% 0 - possibly_damaging(0.561) tolerated(0.31) neutral(0.218) superfamily_TPR-like RGPD3 653489 genome.wustl.edu 37 2 107040243 107040243 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001144013.1 -1 validated p.R1394C 0.930 307 0% 392 48.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ran_BP1,HMMSmart_RanBD,superfamily_SSF50729 ST6GAL2 84620 genome.wustl.edu 37 2 107460402 107460402 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001142351.1 -1 validated p.R11Q 0.995 24 0% 42 42.9% 1 100% benign(0.233) tolerated(0.31) neutral(0.051) NULL CCDC138 165055 genome.wustl.edu 37 2 109492577 109492577 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_144978.1 +1 provisional p.I622M 1.000 180 0% 236 41.1% 0 - possibly_damaging(0.898) deleterious(0) deleterious(0.799) NULL ANAPC1 64682 genome.wustl.edu 37 2 112541503 112541503 + Silent SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_022662.2 -1 validated p.I1678 0.995 237 0% 306 38.6% 4 25% - - - NULL FOXD4L1 200350 genome.wustl.edu 37 2 114257907 114257907 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_012184.4 +1 reviewed p.P358 0.968 73 0% 58 60.3% 2 100% - - - NULL C2orf76 130355 genome.wustl.edu 37 2 120069246 120069246 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001017927.2 -1 predicted p.E86K 1.000 117 0% 144 38.9% 3 33.3% possibly_damaging(0.538) deleterious(0.01) deleterious(0.588) HMMPfam_DUF2340 PTPN4 5775 genome.wustl.edu 37 2 120677770 120677770 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002830.2 +1 reviewed p.K318N 1.000 122 0% 158 48.7% 0 - probably_damaging(0.965) deleterious(0.01) deleterious(0.812) superfamily_SSF50729 MKI67IP 84365 genome.wustl.edu 37 2 122486076 122486076 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_032390.4 -1 reviewed p.R201C 0.005 208 0% 327 37.3% 2 0% benign(0.389) tolerated(0.12) neutral(0.385) NULL CNTNAP5 129684 genome.wustl.edu 37 2 125627267 125627267 + Nonsense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_130773.2 +1 reviewed p.R1121* 0.000 88 0% 122 36.9% 0 - - - - HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 LRP1B 53353 genome.wustl.edu 37 2 141607881 141607881 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_018557.2 -1 validated p.L1577I 1.000 135 0% 168 51.2% 0 - probably_damaging(0.998) tolerated(0.34) deleterious(0.497) superfamily_SSF57196,superfamily_SSF63825 KIF5C 3800 genome.wustl.edu 37 2 149793838 149793838 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000435030 +1 known p.R111Q 1.000 47 0% 87 51.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases NEB 4703 genome.wustl.edu 37 2 152581387 152581387 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_004543.4 -1 reviewed p.S164L 1.000 278 0% 337 42.7% 0 - probably_damaging(0.998) tolerated(0.2) deleterious(0.523) HMMPfam_Nebulin,HMMSmart_SM00227 CACNB4 785 genome.wustl.edu 37 2 152695812 152695812 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000726.3 -1 reviewed p.Y462D 1.000 147 0% 233 45.5% 0 - benign(0.148) tolerated(0.09) neutral(0.309) NULL ACVR1 90 genome.wustl.edu 37 2 158622579 158622579 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001105.4 -1 reviewed p.R307Q 1.000 98 0% 118 30.5% 36 41.6% possibly_damaging(0.835) tolerated(0.18) neutral(0.374) superfamily_Kinase_like,HMMPfam_Pkinase SLC4A10 57282 genome.wustl.edu 37 2 162751199 162751199 + Missense_Mutation SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_022058.3 +1 reviewed p.D372G 1.000 145 0% 237 43.5% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Band_3_cyto,superfamily_Phoshotransferase/anion transport protein KCNH7 90134 genome.wustl.edu 37 2 163374662 163374662 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_033272.2 -1 reviewed p.F157C 1.000 40 0% 71 59.2% 0 - benign(0) tolerated(0.17) neutral(0.059) NULL SCN7A 6332 genome.wustl.edu 37 2 167322036 167322036 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002976.2 -1 validated p.E293K 0.972 88 0% 90 50% 0 - benign(0.002) tolerated(0.46) neutral(0.012) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels NOSTRIN 115677 genome.wustl.edu 37 2 169717333 169717333 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001039724.3 +1 validated p.S403F 1.000 135 0% 164 44.5% 5 40% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL LRP2 4036 genome.wustl.edu 37 2 170060656 170060656 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_004525.2 -1 reviewed p.R2614I 0.518 108 0% 131 11.5% 0 - benign(0.246) deleterious(0.01) neutral(0.431) HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 LRP2 4036 genome.wustl.edu 37 2 170072852 170072852 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_004525.2 -1 reviewed p.L1913I 0.977 109 0% 123 46.3% 0 - benign(0.003) tolerated(0.28) neutral(0.032) HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 PPIG 9360 genome.wustl.edu 37 2 170493494 170493494 + Nonsense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_004792.2 +1 validated p.R576* 0.993 211 0% 280 48.2% 33 45.4% - - - NULL UBR3 130507 genome.wustl.edu 37 2 170804218 170804218 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_172070.3 +1 validated p.S1026Y 1.000 66 0% 74 37.8% 2 0% benign(0.037) tolerated(0.69) neutral(0.004) NULL HOXD3 3232 genome.wustl.edu 37 2 177034349 177034349 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_006898.4 +1 reviewed p.Q169H 1.000 35 0% 56 57.1% 0 - possibly_damaging(0.892) tolerated(0.07) deleterious(0.670) NULL TTC30A 92104 genome.wustl.edu 37 2 178482947 178482947 + Silent SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_152275.3 -1 validated p.G161 0.992 61 0% 84 47.6% 14 57.1% - - - HMMSmart_TPR,superfamily_SSF48452 OSBPL6 114880 genome.wustl.edu 37 2 179247784 179247784 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_145739.1 +1 reviewed p.R556Q 1.000 61 0% 52 51.9% 8 37.5% possibly_damaging(0.867) tolerated(0.59) neutral(0.341) HMMPfam_Oxysterol_BP TTN 7273 genome.wustl.edu 37 2 179444390 179444390 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000356127 -1 known p.D19942Y 1.000 191 0% 231 42.4% 0 - probably_damaging(0.964) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179474417 179474417 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000356127 -1 known p.P14677S 1.000 155 0% 178 52.8% 0 - benign(0.014) - - NULL TTN 7273 genome.wustl.edu 37 2 179483192 179483192 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000356127 -1 known p.E13097K 1.000 73 0% 123 51.2% 1 100% benign(0.014) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179485078 179485078 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000356127 -1 known p.P12822 0.761 110 1.8% 132 47.7% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179494084 179494084 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000356127 -1 known p.E12222K 1.000 131 0% 205 44.4% 0 - benign(0.014) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179596569 179596569 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000356127 -1 known p.R4434Q 0.981 57 0% 69 42% 0 - unknown(0) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179602950 179602950 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000356127 -1 known p.D3500N 1.000 96 0% 97 37.1% 0 - benign(0.014) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179610792 179610792 + Silent SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_133379.3 -1 reviewed p.L5445 0.481 123 0% 137 48.9% 0 - - - - HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 TTN 7273 genome.wustl.edu 37 2 179614232 179614232 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_133379.3 -1 reviewed p.N4299H 0.027 70 0% 90 50% 0 - probably_damaging(0.989) deleterious(0) deleterious(0.884) NULL TTN 7273 genome.wustl.edu 37 2 179632748 179632748 + Missense_Mutation SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_133379.3 -1 reviewed p.T3100A 0.002 118 0% 154 39% 0 - benign(0.099) - - HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726 TTN 7273 genome.wustl.edu 37 2 179641681 179641681 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_133379.3 -1 reviewed p.G1637V 1.000 110 0% 171 46.8% 0 - benign(0.29) - - HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726 SLC40A1 30061 genome.wustl.edu 37 2 190426873 190426873 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_014585.5 -1 reviewed p.N483H 1.000 66 0% 102 49% 34 55.8% probably_damaging(0.999) tolerated(0.23) deleterious(0.532) superfamily_MFS general substrate transporter SDPR 8436 genome.wustl.edu 37 2 192700704 192700704 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_004657.5 -1 reviewed p.R408H 0.000 8 0.000 11 0.727 1 0% possibly_damaging(0.754) deleterious(0.03) deleterious(0.643) NULL DNAH7 56171 genome.wustl.edu 37 2 196642563 196642563 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_018897.2 -1 validated p.F3675 0.994 154 0% 202 48.5% 6 33.3% - - - HMMPfam_Dynein_heavy DNAH7 56171 genome.wustl.edu 37 2 196750896 196750896 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_018897.2 -1 validated p.R1836I 0.991 169 0% 226 45.6% 0 - benign(0) tolerated(0.53) neutral(0.007) NULL DNAH7 56171 genome.wustl.edu 37 2 196825401 196825401 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_018897.2 -1 validated p.K825T 0.001 133 0% 222 49.5% 0 - benign(0) tolerated(0.4) neutral(0.016) HMMPfam_DHC_N2 PGAP1 80055 genome.wustl.edu 37 2 197784871 197784871 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_024989.3 -1 validated p.I51L 1.000 200 0% 253 44.7% 0 - benign(0.019) deleterious(0.04) neutral(0.350) NULL PLCL1 5334 genome.wustl.edu 37 2 198949217 198949217 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_006226.3 +1 validated p.N228H 1.000 53 0% 96 43.8% 0 - probably_damaging(0.999) tolerated(0.14) deleterious(0.740) HMMPfam_efhand_like,superfamily_SSF47473 PLCL1 5334 genome.wustl.edu 37 2 198949322 198949322 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_006226.3 +1 validated p.E263K 1.000 57 0% 79 41.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_efhand_like,superfamily_SSF47473 SATB2 23314 genome.wustl.edu 37 2 200136951 200136951 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_015265.3 -1 reviewed p.E729K 0.869 117 0% 136 54.4% 1 0% benign(0.224) tolerated(0.05) neutral(0.367) NULL CASP10 843 genome.wustl.edu 37 2 202073993 202073993 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_032977.3 +1 reviewed p.R375W 0.011 96 0% 120 37.5% 4 75% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_Peptidase_C14,HMMSmart_CASc,superfamily_SSF52129 ALS2CR12 130540 genome.wustl.edu 37 2 202195204 202195204 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_139163.2 -1 validated p.R222C 0.348 90 0% 129 41.9% 0 - possibly_damaging(0.865) deleterious(0.03) deleterious(0.700) NULL ZDBF2 57683 genome.wustl.edu 37 2 207171710 207171710 + Missense_Mutation SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_020923.1 +1 validated p.K820E 0.010 101 0% 118 40.7% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL PIKFYVE 200576 genome.wustl.edu 37 2 209169569 209169569 + Splice_Site SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_015040.3 +1 reviewed e11-1 1.000 101 0% 156 37.2% 0 - - - - - MAP2 4133 genome.wustl.edu 37 2 210559864 210559864 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002374.3 +1 reviewed p.F990 0.000 66 0% 83 55.4% 0 - - - - HMMPfam_MAP2_projctn ABCA12 26154 genome.wustl.edu 37 2 215865634 215865634 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_173076.2 -1 reviewed p.A992T 0.011 157 0% 212 53.3% 0 - benign(0) tolerated(0.62) neutral(0.004) NULL FN1 2335 genome.wustl.edu 37 2 216285397 216285397 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_212482.1 -1 reviewed p.V558 0.367 113 0% 149 51.7% 218 16.9% - - - HMMSmart_SM00058,superfamily_Fibronectin type I module EPHA4 2043 genome.wustl.edu 37 2 222322589 222322589 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_004438.3 -1 reviewed p.E480 1.000 72 0% 98 44.9% 0 - - - - HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like WDFY1 57590 genome.wustl.edu 37 2 224744851 224744851 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_020830.3 -1 reviewed p.R388H 0.998 69 0% 97 44.3% 12 33.3% probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40 NYAP2 57624 genome.wustl.edu 37 2 226491740 226491740 + Missense_Mutation SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_020864.1 +1 validated p.K576E 1.000 37 0% 51 39.2% 0 - unknown(0) - - NULL COL4A3 1285 genome.wustl.edu 37 2 228102730 228102730 + Missense_Mutation SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000091.3 +1 reviewed p.K45R 0.993 146 0% 209 44% 0 - probably_damaging(0.996) deleterious(0.05) deleterious(0.807) HMMPfam_Collagen COL4A3 1285 genome.wustl.edu 37 2 228173943 228173943 + Nonsense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000315699 +1 known p.R1496* 1.000 55 0% 60 40% 0 - - - - NULL AGFG1 3267 genome.wustl.edu 37 2 228389519 228389519 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001135187.1 +1 reviewed p.K194N 1.000 141 0% 193 44% 8 37.5% possibly_damaging(0.701) tolerated(0.52) neutral(0.261) NULL B3GNT7 93010 genome.wustl.edu 37 2 232263222 232263222 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_145236.2 +1 validated p.F264 0.680 27 0% 31 48.4% 4 0% - - - HMMPfam_Galactosyl_T SPP2 6694 genome.wustl.edu 37 2 234959457 234959457 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_006944.2 +1 reviewed p.T9 0.045 186 0.5% 256 44.5% 0 - - - - NULL HDLBP 3069 genome.wustl.edu 37 2 242189359 242189359 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_005336.3 -1 validated p.R470H 1.000 85 0% 77 44.2% 151 41.7% benign(0.149) tolerated(0.57) neutral(0.019) HMMSmart_KH,HMMPfam_KH_1,superfamily_SSF54791 CHL1 10752 genome.wustl.edu 37 3 419601 419601 + Missense_Mutation SNP G G A rs186218301 by1000genomes TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_006614.2 +1 reviewed p.D618N 0.007 186 0% 246 48.8% 0 - benign(0.062) deleterious(0.03) neutral(0.368) HMMSmart_SM00409,superfamily_Immunoglobulin CNTN6 27255 genome.wustl.edu 37 3 1337345 1337345 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_014461.2 +1 reviewed p.R172Q 0.461 88 0% 116 37.1% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_IG,superfamily_SSF48726 CNTN4 152330 genome.wustl.edu 37 3 2613202 2613202 + Nonsense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_175607.1 +1 reviewed p.W5* 1.000 169 0% 233 45.1% 0 - - - - NULL ITPR1 3708 genome.wustl.edu 37 3 4714929 4714929 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001099952.2 +1 reviewed p.E772K 0.999 27 0% 32 53.1% 0 - benign(0.045) tolerated(0.19) neutral(0.052) NULL ITPR1 3708 genome.wustl.edu 37 3 4730238 4730238 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001099952.2 +1 reviewed p.F1245L 1.000 84 0% 111 55.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RYDR_ITPR ITPR1 3708 genome.wustl.edu 37 3 4817094 4817094 + Nonsense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001099952.2 +1 reviewed p.E2002* 1.000 114 0% 157 50.3% 0 - - - - HMMPfam_RIH_assoc CAND2 23066 genome.wustl.edu 37 3 12854769 12854769 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_012298.2 +1 validated p.H203 0.958 117 0% 135 20.7% 1 0% - - - superfamily_ARM-type_fold ANKRD28 23243 genome.wustl.edu 37 3 15726828 15726828 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_015199.2 -1 provisional p.L735R 1.000 77 0% 70 32.9% 12 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat ANKRD28 23243 genome.wustl.edu 37 3 15726889 15726889 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_015199.2 -1 provisional p.R715W 0.943 65 0% 103 41.7% 14 28.5% probably_damaging(0.955) deleterious(0) deleterious(0.843) HMMPfam_Ank,superfamily_Ankyrin repeat GALNTL2 117248 genome.wustl.edu 37 3 16268892 16268892 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_054110.4 +1 validated p.K602T 1.000 141 0% 187 41.7% 0 - probably_damaging(0.992) tolerated(0.16) deleterious(0.507) HMMPfam_Ricin_B_lectin,HMMSmart_RICIN,superfamily_RicinB_like KAT2B 8850 genome.wustl.edu 37 3 20141413 20141413 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_003884.4 +1 reviewed p.K212N 1.000 67 0% 83 33.7% 0 - benign(0.304) tolerated(0.06) neutral(0.417) HMMPfam_PCAF_N KAT2B 8850 genome.wustl.edu 37 3 20167607 20167607 + Splice_Site SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_003884.4 +1 reviewed e10+2 1.000 67 0% 60 38.3% 0 - - - - - SGOL1 151648 genome.wustl.edu 37 3 20216136 20216136 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001012410.2 -1 provisional p.R296I 0.837 155 0% 239 44.4% 0 - probably_damaging(0.96) deleterious(0.02) deleterious(0.786) NULL TRIM71 131405 genome.wustl.edu 37 3 32932742 32932742 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001039111.1 +1 provisional p.F682 0.954 16 0% 15 33.3% 0 - - - - superfamily_SSF101898 UBP1 7342 genome.wustl.edu 37 3 33434923 33434923 + Nonsense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001128161.1 -1 validated p.E472* 1.000 122 0% 156 38.5% 9 11.1% - - - NULL EPM2AIP1 9852 genome.wustl.edu 37 3 37033920 37033920 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_014805.3 -1 reviewed p.H217N 0.825 26 0% 33 33.3% 11 18.1% benign(0.081) tolerated(0.27) neutral(0.040) NULL GOLGA4 2803 genome.wustl.edu 37 3 37340494 37340494 + Nonsense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002078.4 +1 reviewed p.E329* 1.000 79 0% 112 50% 0 - - - - NULL GOLGA4 2803 genome.wustl.edu 37 3 37340794 37340794 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002078.4 +1 reviewed p.E340K 1.000 68 0% 79 34.2% 1 0% probably_damaging(0.999) tolerated(0.12) deleterious(0.751) NULL GOLGA4 2803 genome.wustl.edu 37 3 37369229 37369229 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002078.4 +1 reviewed p.K1951T 1.000 124 0% 165 42.4% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SCN10A 6336 genome.wustl.edu 37 3 38797316 38797316 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_006514.2 -1 validated p.K475T 0.228 171 0% 230 48.7% 0 - benign(0.054) tolerated(0.24) neutral(0.041) NULL ZNF620 253639 genome.wustl.edu 37 3 40558152 40558152 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_175888.2 +1 validated p.R356Q 0.032 88 0% 112 42% 6 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF445 353274 genome.wustl.edu 37 3 44489424 44489424 + Missense_Mutation SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_181489.5 -1 validated p.Y580C 0.000 77 0% 94 38.3% 1 0% benign(0) tolerated(0.18) neutral(0.056) NULL LTF 4057 genome.wustl.edu 37 3 46491455 46491455 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002343.2 -1 reviewed p.D316Y 0.999 120 0% 119 42% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Transferrin,HMMSmart_TR_FER,superfamily_SSF53850 SETD2 29072 genome.wustl.edu 37 3 47139459 47139459 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_014159.6 -1 reviewed p.R1710C 0.999 94 0% 149 33.6% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MAP4 4134 genome.wustl.edu 37 3 47951018 47951018 + Silent SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_030884.3 -1 reviewed p.Q238 0.000 83 0% 134 56.7% 0 - - - - NULL IQCF2 389123 genome.wustl.edu 37 3 51895692 51895692 + Nonsense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_203424.1 +1 validated p.R4* 0.000 109 0% 138 43.5% 0 - - - - NULL TLR9 54106 genome.wustl.edu 37 3 52258313 52258313 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_017442.2 -1 reviewed p.A7T 0.003 21 0% 16 56.2% 0 - benign(0.001) tolerated(0.44) neutral(0.013) NULL ENSG00000222345 0 genome.wustl.edu 37 3 52725401 52725401 + RNA SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000410413 +1 novel NULL 0.996 59 0% 77 49.4% 0 - - - - - CCDC66 285331 genome.wustl.edu 37 3 56597852 56597852 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001141947.1 +1 validated p.K81N 0.987 147 0% 164 40.9% 0 - possibly_damaging(0.929) deleterious(0) deleterious(0.821) NULL FAM208A 23272 genome.wustl.edu 37 3 56667304 56667304 + Missense_Mutation SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001112736.1 -1 validated p.V1172A 0.529 153 0% 226 46.5% 6 50% benign(0.004) tolerated(0.27) neutral(0.034) NULL ARHGEF3 50650 genome.wustl.edu 37 3 56992908 56992908 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000486829 -1 known p.G30D 0.919 196 0% 253 53.8% 1 100% unknown(0) - - NULL DNAH12 201625 genome.wustl.edu 37 3 57509594 57509594 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_178504.4 -1 validated p.R63I 0.008 191 0% 287 40.1% 0 - benign(0.082) deleterious(0.03) neutral(0.370) NULL ABHD6 57406 genome.wustl.edu 37 3 58242342 58242342 + Missense_Mutation SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_020676.5 +1 validated p.V10A 1.000 184 0% 187 46% 7 57.1% benign(0.021) tolerated(0.27) neutral(0.035) NULL CADPS 8618 genome.wustl.edu 37 3 62484866 62484866 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_003716.3 -1 reviewed p.L893I 1.000 187 0% 222 53.6% 0 - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMPfam_DUF1041 SYNPR 132204 genome.wustl.edu 37 3 63264220 63264220 + Missense_Mutation SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001130003.1 +1 validated p.V4A 1.000 70 0% 99 54.5% 0 - benign(0.001) tolerated(0.34) neutral(0.023) NULL TMF1 7110 genome.wustl.edu 37 3 69077425 69077425 + Missense_Mutation SNP G G C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_007114.2 -1 validated p.N872K 0.999 227 0% 347 38% 2 50% benign(0.059) tolerated(0.89) neutral(0.004) NULL PPP4R2 151987 genome.wustl.edu 37 3 73114163 73114163 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_174907.2 +1 provisional p.E267K 0.996 62 0% 117 45.3% 5 80% possibly_damaging(0.949) tolerated(0.1) deleterious(0.679) HMMPfam_PPP4R2 C3orf38 285237 genome.wustl.edu 37 3 88202563 88202563 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000318887 +1 known p.K106T 0.989 103 0% 182 45.6% 1 0% possibly_damaging(0.918) tolerated(0.28) neutral(0.400) NULL CRYBG3 131544 genome.wustl.edu 37 3 97631113 97631113 + Nonsense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_153605.2 +1 validated p.R755* 1.000 235 0% 307 43.3% 1 0% - - - HMMPfam_Crystall,HMMSmart_SM00247,superfamily_gamma-Crystallin-like MINA 84864 genome.wustl.edu 37 3 97664069 97664069 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001042533.1 -1 validated p.V453I 0.999 161 0% 260 41.9% 1 0% benign(0.029) tolerated(0.13) neutral(0.254) NULL TOMM70A 9868 genome.wustl.edu 37 3 100105720 100105720 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_014820.3 -1 validated p.L143V 0.998 206 0% 275 45.1% 1 0% benign(0.001) tolerated(0.17) neutral(0.059) HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452 PVRL3 25945 genome.wustl.edu 37 3 110852683 110852683 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_015480.1 +1 provisional p.G424V 1.000 146 0% 125 33.6% 2 100% probably_damaging(1) tolerated(0.96) deleterious(0.500) NULL SLC9A10 285335 genome.wustl.edu 37 3 111923167 111923167 + Silent SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_183061.1 -1 validated p.V690 0.001 155 0% 235 44.3% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels HGD 3081 genome.wustl.edu 37 3 120393784 120393784 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000187.3 -1 reviewed p.S47L 0.999 137 0% 178 38.2% 4 25% probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_HgmA,superfamily_RmlC-like cupins DTX3L 151636 genome.wustl.edu 37 3 122289345 122289345 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_138287.3 +1 validated p.R660Q 0.745 130 0% 178 44.4% 6 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PARP15 165631 genome.wustl.edu 37 3 122340315 122340315 + Missense_Mutation SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001113523.1 +1 validated p.I363T 0.951 104 0% 166 45.8% 0 - benign(0.032) tolerated(0.08) neutral(0.301) HMMPfam_Macro,HMMSmart_SM00506,superfamily_Macro domain-like ALDH1L1 10840 genome.wustl.edu 37 3 125855661 125855661 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_012190.2 -1 reviewed p.F430 0.998 61 0% 67 37.3% 23 100% - - - HMMPfam_Aldedh,superfamily_Aldehyde_DH/Histidinol_DH C3orf22 152065 genome.wustl.edu 37 3 126268815 126268815 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_152533.1 -1 predicted p.R108C 0.000 104 0% 111 43.2% 0 - probably_damaging(0.998) tolerated(0.05) deleterious(0.820) NULL COL6A5 256076 genome.wustl.edu 37 3 130107922 130107922 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_153264.5 +1 validated p.F787 1.000 163 0% 235 44.7% 0 - - - - HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300 COL6A6 131873 genome.wustl.edu 37 3 130368337 130368337 + Silent SNP C C T rs145622340 by1000genomes TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001102608.1 +1 provisional p.F1888 0.988 20 0% 24 58.3% 0 - - - - HMMSmart_SM00327,superfamily_vWA-like DNAJC13 23317 genome.wustl.edu 37 3 132176147 132176147 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_015268.3 +1 validated p.A462T 1.000 290 0% 411 47% 3 33.3% probably_damaging(0.994) deleterious(0.02) deleterious(0.835) superfamily_ARM repeat ATP1B3 483 genome.wustl.edu 37 3 141644433 141644433 + Nonsense_Mutation SNP A A T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001679.2 +1 reviewed p.K244* 0.005 151 0% 190 35.3% 134 37.3% - - - HMMPfam_Na_K-ATPase GK5 256356 genome.wustl.edu 37 3 141923565 141923565 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001039547.2 -1 validated p.K128T 1.000 268 0.4% 317 45.1% 0 - possibly_damaging(0.833) tolerated(0.17) neutral(0.377) HMMPfam_FGGY_N,superfamily_Actin-like ATPase domain SLC9A9 285195 genome.wustl.edu 37 3 143551039 143551039 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_173653.3 -1 reviewed p.R67Q 1.000 188 0% 288 44.1% 0 - probably_damaging(0.994) deleterious(0.01) deleterious(0.858) HMMPfam_Na_H_Exchanger FAM194A 131831 genome.wustl.edu 37 3 150404100 150404100 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_152394.3 -1 validated p.A199T 0.015 211 0% 313 44.1% 0 - possibly_damaging(0.471) deleterious(0) deleterious(0.600) NULL P2RY14 9934 genome.wustl.edu 37 3 150931779 150931779 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001081455.1 -1 reviewed p.I109S 1.000 69 0% 91 47.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like AADAC 13 genome.wustl.edu 37 3 151538226 151538226 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001086.2 +1 reviewed p.V139 0.261 147 0% 203 45.8% 0 - - - - HMMPfam_Abhydrolase_3,superfamily_alpha/beta-Hydrolases MME 4311 genome.wustl.edu 37 3 154802112 154802112 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000902.3 +1 reviewed p.Y52 0.761 51 0% 64 45.3% 0 - - - - NULL MME 4311 genome.wustl.edu 37 3 154886415 154886415 + Splice_Site SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000902.3 +1 reviewed e18+1 1.000 198 0% 253 45.1% 0 - - - - - IL12A 3592 genome.wustl.edu 37 3 159713299 159713299 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000882.2 +1 reviewed p.R239W 0.533 166 0% 223 40.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_IL12,superfamily_4_helix_cytokine SI 6476 genome.wustl.edu 37 3 164773029 164773029 + Nonsense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001041.3 -1 reviewed p.E489* 1.000 163 0% 226 53.1% 0 - - - - HMMPfam_Glyco_hydro_31,superfamily_(Trans)glycosidases SI 6476 genome.wustl.edu 37 3 164776971 164776971 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001041.3 -1 reviewed p.K421N 1.000 184 0% 248 47.2% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Glyco_hydro_31,superfamily_(Trans)glycosidases SLITRK3 22865 genome.wustl.edu 37 3 164906545 164906545 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_014926.2 -1 validated p.R692W 0.998 28 0% 38 55.3% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL SLITRK3 22865 genome.wustl.edu 37 3 164907220 164907220 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_014926.2 -1 validated p.D467N 0.996 85 0% 108 38% 0 - benign(0.008) tolerated(0.38) neutral(0.018) HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058 HRG 3273 genome.wustl.edu 37 3 186387811 186387811 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000412.2 +1 reviewed p.S129R 0.992 118 0% 171 41.5% 0 - probably_damaging(0.994) tolerated(1) neutral(0.452) superfamily_Cystatin/monellin XXYLT1 152002 genome.wustl.edu 37 3 194790519 194790519 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_152531.4 -1 validated p.F369 0.887 31 0% 40 45% 49 32.6% - - - superfamily_Nucleotide-diphospho-sugar transferases LRCH3 84859 genome.wustl.edu 37 3 197547275 197547275 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_032773.2 +1 provisional p.R205I 1.000 168 0% 194 51% 3 66.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_SSF52058 ZNF732 654254 genome.wustl.edu 37 4 266039 266039 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001137608.1 -1 provisional p.D203N 0.298 144 0% 180 41.1% 0 - benign(0.014) deleterious(0.02) neutral(0.384) HMMSmart_ZnF_C2H2,superfamily_SSF48695 ZNF732 654254 genome.wustl.edu 37 4 289892 289892 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001137608.1 -1 provisional p.K19T 0.017 155 0% 273 37.7% 2 0% possibly_damaging(0.448) tolerated(0.07) neutral(0.466) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box ATP5I 521 genome.wustl.edu 37 4 667163 667163 + Missense_Mutation SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_007100.2 -1 reviewed p.E40G 0.998 405 0% 521 14.8% 736 16.3% possibly_damaging(0.767) deleterious(0.01) deleterious(0.690) HMMPfam_ATP-synt_E LETM1 3954 genome.wustl.edu 37 4 1838249 1838249 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_012318.2 -1 reviewed p.F215 0.980 82 0% 87 58.6% 12 50% - - - HMMPfam_LETM1 HAUS3 79441 genome.wustl.edu 37 4 2240738 2240738 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_024511.5 -1 provisional p.I314M 1.000 141 0% 174 43.1% 1 0% benign(0.011) tolerated(0.25) neutral(0.037) NULL NOP14 8602 genome.wustl.edu 37 4 2940596 2940596 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_003703.1 -1 validated p.E846K 1.000 210 0% 274 46.4% 3 66.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Nop14 KIAA0232 9778 genome.wustl.edu 37 4 6865325 6865325 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001100590.1 +1 validated p.P1072 0.806 91 0% 113 42.5% 3 33.3% - - - NULL METTL19 152992 genome.wustl.edu 37 4 8467223 8467223 + Nonsense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_152544.1 +1 provisional p.E85* 0.998 233 0% 292 44.9% 0 - - - - HMMPfam_AdoMet_MTase ENSG00000219492 0 genome.wustl.edu 37 4 9386201 9386201 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000508324 -1 known p.Q148P 0.030 194 0% 248 41.1% 0 - possibly_damaging(0.435) deleterious(0.04) deleterious(0.491) superfamily_C2H2 and C2HC zinc fingers GPR125 166647 genome.wustl.edu 37 4 22456543 22456543 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_145290.2 -1 validated p.R140Q 1.000 200 0.5% 285 47.4% 1 100% benign(0.354) tolerated(0.48) neutral(0.122) HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like PI4K2B 55300 genome.wustl.edu 37 4 25270155 25270155 + Missense_Mutation SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_018323.3 +1 validated p.N390S 1.000 140 0% 193 47.2% 0 - probably_damaging(0.999) tolerated(0.17) deleterious(0.549) HMMPfam_PI3_PI4_kinase TBC1D19 55296 genome.wustl.edu 37 4 26750037 26750037 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_018317.2 +1 validated p.R442C 1.000 141 0.7% 192 42.2% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p ARAP2 116984 genome.wustl.edu 37 4 36134993 36134993 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_015230.2 -1 reviewed p.G1094 1.000 161 0% 154 39% 0 - - - - HMMSmart_SM00233,superfamily_PH domain-like TLR6 10333 genome.wustl.edu 37 4 38830079 38830079 + Nonsense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_006068.3 -1 validated p.S339* 0.066 93 0% 97 43.3% 0 - - - - superfamily_SSF52058 RFC1 5981 genome.wustl.edu 37 4 39322117 39322117 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002913.3 -1 reviewed p.E327 0.047 261 0% 362 50.6% 0 - - - - NULL PDS5A 23244 genome.wustl.edu 37 4 39924328 39924328 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001100399.1 -1 reviewed p.L190V 1.000 116 0% 148 49.3% 2 50% benign(0.017) tolerated(1) neutral(0.001) superfamily_ARM repeat LIMCH1 22998 genome.wustl.edu 37 4 41608017 41608017 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_014988.2 +1 validated p.R161Q 1.000 166 0% 235 47.2% 4 50% probably_damaging(0.989) tolerated(0.07) deleterious(0.758) superfamily_Calponin-homology domain CH-domain DCAF4L1 285429 genome.wustl.edu 37 4 41984123 41984123 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001029955.3 +1 validated p.R105Q 0.956 44 0% 60 53.3% 0 - benign(0.014) tolerated(0.78) neutral(0.002) superfamily_WD40 repeat-like SLC30A9 10463 genome.wustl.edu 37 4 42080230 42080230 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_006345.3 +1 validated p.E517A 1.000 94 0% 124 45.2% 3 0% probably_damaging(0.984) tolerated(0.17) deleterious(0.489) HMMPfam_Cation_efflux GABRA4 2557 genome.wustl.edu 37 4 46930528 46930528 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000809.2 -1 reviewed p.R460Q 0.001 93 0% 147 45.6% 0 - benign(0) tolerated(0.32) neutral(0.024) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM SLAIN2 57606 genome.wustl.edu 37 4 48422227 48422227 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000510595 +1 known p.L91F 0.991 156 0% 194 45.9% 31 51.6% - - - NULL EXOC1 55763 genome.wustl.edu 37 4 56759755 56759755 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001024924.1 +1 reviewed p.R588C 1.000 128 0% 175 47.4% 9 33.3% possibly_damaging(0.847) tolerated(0.06) deleterious(0.647) HMMPfam_Sec3 AASDH 132949 genome.wustl.edu 37 4 57204813 57204813 + Missense_Mutation SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_181806.2 -1 validated p.S1018P 0.127 80 0% 113 49.6% 11 9% probably_damaging(0.972) tolerated(0.25) neutral(0.451) superfamily_Quinoprotein alcohol dehydrogenase-like STAP1 26228 genome.wustl.edu 37 4 68472075 68472075 + Nonstop_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_012108.2 +1 reviewed p.*296C 0.721 248 0% 347 40.1% 0 - - - - NULL UGT2A3 79799 genome.wustl.edu 37 4 69817445 69817445 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_024743.3 -1 validated p.L12F 0.465 42 0% 44 34.1% 0 - possibly_damaging(0.86) tolerated(0.2) neutral(0.382) PatternScan_HMA_1 UGT2B28 54490 genome.wustl.edu 37 4 70276621 70276621 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000436035 +1 known p.R18Q 1.000 390 0% 531 42% 0 - - - - HMMPfam_UDPGT,superfamily_SSF53756 CABS1 85438 genome.wustl.edu 37 4 71201725 71201725 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_033122.3 +1 validated p.F323 0.000 100 0% 106 39.6% 0 - - - - NULL PROL1 58503 genome.wustl.edu 37 4 71275511 71275511 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_021225.4 +1 reviewed p.N156H 0.000 588 0% 656 45.3% 0 - unknown(0) - - NULL MUC7 4589 genome.wustl.edu 37 4 71347468 71347468 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001145006.1 +1 reviewed p.S336L 0.000 345 0% 440 42.7% 0 - possibly_damaging(0.873) tolerated(0.12) deleterious(0.600) NULL GRSF1 2926 genome.wustl.edu 37 4 71691038 71691038 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000514161 -1 known p.R393Q 0.005 45 0% 74 44.6% 104 50% - - - HMMSmart_SM00360,superfamily_RNA-binding domain RBD ADAMTS3 9508 genome.wustl.edu 37 4 73156675 73156675 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_014243.1 -1 reviewed p.R943H 1.000 62 0% 77 40.3% 1 0% possibly_damaging(0.952) deleterious(0.04) deleterious(0.744) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat THAP6 152815 genome.wustl.edu 37 4 76447105 76447105 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000508105 +1 known p.L109I 0.002 182 0% 250 46.4% 0 - unknown(0) - - NULL NUP54 53371 genome.wustl.edu 37 4 77055443 77055443 + Nonsense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_017426.2 -1 reviewed p.E199* 1.000 128 0% 191 45.5% 0 - - - - NULL CDS1 1040 genome.wustl.edu 37 4 85569775 85569775 + Missense_Mutation SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001263.3 +1 reviewed p.I441T 0.987 129 0% 176 39.8% 0 - benign(0.366) deleterious(0) deleterious(0.561) NULL HERC6 55008 genome.wustl.edu 37 4 89352419 89352419 + Missense_Mutation SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_017912.3 +1 validated p.Y738H 0.993 198 0% 301 45.5% 3 66.6% possibly_damaging(0.696) deleterious(0.03) deleterious(0.614) HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain TSPAN5 10098 genome.wustl.edu 37 4 99399918 99399918 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_005723.3 -1 reviewed p.N165T 1.000 112 0% 131 43.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Tetraspanin,HMMPfam_Tetraspannin ADH6 130 genome.wustl.edu 37 4 100128601 100128601 + Splice_Site SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001102470.1 -1 reviewed e7+2 0.995 148 0% 235 46.4% 0 - - - - - LEF1 51176 genome.wustl.edu 37 4 108999412 108999412 + Missense_Mutation SNP T T A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_016269.4 -1 reviewed p.K324N 0.998 169 0% 237 39.7% 71 53.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_HMG_box,HMMSmart_SM00398,superfamily_HMG-box SEC24B 10427 genome.wustl.edu 37 4 110431172 110431172 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_006323.2 +1 reviewed p.R561W 1.000 318 0% 455 45.3% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_beta-sandwich domain of Sec23/24 SEC24B 10427 genome.wustl.edu 37 4 110434911 110434911 + Nonsense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_006323.2 +1 reviewed p.E638* 1.000 125 0% 206 40.8% 2 50% - - - HMMPfam_zf-Sec23_Sec24,superfamily_Zn-finger domain of Sec23/24,superfamily_beta-sandwich domain of Sec23/24 GAR1 54433 genome.wustl.edu 37 4 110739247 110739247 + Splice_Site SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_018983.3 +1 reviewed e2+1 1.000 122 0% 152 47.4% 0 - - - - - PITX2 5308 genome.wustl.edu 37 4 111542467 111542467 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000325.5 -1 reviewed p.K88 1.000 47 0% 51 47.1% 2 0% - - - superfamily_Homeodomain-like C4orf21 55345 genome.wustl.edu 37 4 113540267 113540267 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000505019 -1 known p.L311V 0.000 89 0% 132 48.5% 0 - probably_damaging(0.998) deleterious(0.04) deleterious(0.823) NULL UGT8 7368 genome.wustl.edu 37 4 115586857 115586857 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001128174.1 +1 validated p.K329N 0.997 313 0% 400 45.3% 1 0% benign(0.002) tolerated(0.19) neutral(0.050) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase NDST4 64579 genome.wustl.edu 37 4 115891702 115891702 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_022569.1 -1 provisional p.R369W 0.000 229 0% 301 45.2% 0 - probably_damaging(0.982) deleterious(0.01) deleterious(0.832) NULL NDST4 64579 genome.wustl.edu 37 4 115997707 115997707 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_022569.1 -1 provisional p.I162 0.923 78 0% 96 46.9% 0 - - - - NULL TRAM1L1 133022 genome.wustl.edu 37 4 118006209 118006209 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_152402.2 -1 validated p.A114V 0.067 150 0% 166 34.3% 1 0% benign(0) tolerated(0.44) neutral(0.013) HMMPfam_TRAM1 NDNF 79625 genome.wustl.edu 37 4 121958768 121958768 + Nonsense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_024574.3 -1 validated p.E120* 0.996 70 0% 74 47.3% 0 - - - - NULL KIAA1109 84162 genome.wustl.edu 37 4 123160676 123160676 + Missense_Mutation SNP C C G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_015312.3 +1 reviewed p.P1280R 0.103 85 0% 99 43.4% 0 - benign(0.006) deleterious(0.02) neutral(0.383) NULL KIAA1109 84162 genome.wustl.edu 37 4 123264685 123264685 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_015312.3 +1 reviewed p.S4158F 1.000 85 0% 105 40% 6 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ADAD1 132612 genome.wustl.edu 37 4 123305046 123305046 + Missense_Mutation SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_139243.3 +1 validated p.S152P 1.000 195 0% 237 43.9% 0 - probably_damaging(0.964) tolerated(0.12) deleterious(0.667) HMMPfam_dsrm,HMMSmart_SM00358,superfamily_dsRNA-binding domain-like SPRY1 10252 genome.wustl.edu 37 4 124323012 124323012 + Missense_Mutation SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_005841.1 +1 validated p.Y89C 0.914 46 0% 57 43.9% 2 50% possibly_damaging(0.93) tolerated(0.16) neutral(0.436) NULL FAT4 79633 genome.wustl.edu 37 4 126371237 126371237 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_024582.4 +1 validated p.F3022L 0.000 88 0% 101 33.7% 0 - benign(0) tolerated(0.76) neutral(0.001) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like LARP1B 55132 genome.wustl.edu 37 4 129099656 129099656 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_018078.2 +1 reviewed p.S585 0.122 154 0% 199 43.2% 1 100% - - - NULL PABPC4L 132430 genome.wustl.edu 37 4 135121241 135121241 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001114734.1 -1 validated p.E312K 0.999 212 0% 267 46.1% 1 0% - - - HMMPfam_RRM_1,HMMSmart_SM00360,HMMSmart_SM00361,superfamily_RNA-binding domain RBD USP38 84640 genome.wustl.edu 37 4 144134979 144134979 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_032557.5 +1 validated p.S617L 1.000 83 0% 94 52.1% 1 0% probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_UCH,superfamily_Cysteine proteinases SMARCA5 8467 genome.wustl.edu 37 4 144445525 144445525 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_003601.2 +1 reviewed p.R142Q 1.000 94 0% 127 42.5% 5 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_SSF52540 SLC10A7 84068 genome.wustl.edu 37 4 147247143 147247143 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001029998.3 -1 validated p.I147 0.765 123 0% 195 44.1% 0 - - - - HMMPfam_SBF DCLK2 166614 genome.wustl.edu 37 4 151114356 151114356 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001040260.2 +1 validated p.R275C 1.000 429 0% 536 46.8% 0 - possibly_damaging(0.59) deleterious(0) deleterious(0.648) HMMPfam_DCX,HMMSmart_SM00537,superfamily_Doublecortin (DC) LRBA 987 genome.wustl.edu 37 4 151842405 151842405 + Missense_Mutation SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_006726.2 -1 validated p.M197T 1.000 159 0% 172 45.3% 0 - benign(0.051) deleterious(0.01) neutral(0.409) superfamily_Concanavalin A-like lectins/glucanases,superfamily_ARM repeat FBXW7 55294 genome.wustl.edu 37 4 153244185 153244185 + Nonsense_Mutation SNP G G A rs144247898 TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_033632.2 -1 reviewed p.R658* 1.000 246 0% 304 45.4% 3 33.3% - - - HMMSmart_SM00320 FBXW7 55294 genome.wustl.edu 37 4 153332919 153332919 + Nonsense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_033632.2 -1 reviewed p.R13* 1.000 134 0% 168 45.2% 4 75% - - - NULL GRIA2 2891 genome.wustl.edu 37 4 158282167 158282167 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001083619.1 +1 reviewed p.A766V 1.000 220 0% 255 40.8% 0 - benign(0.005) deleterious(0.01) neutral(0.406) HMMPfam_Lig_chan,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II RAPGEF2 9693 genome.wustl.edu 37 4 160252620 160252620 + Missense_Mutation SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_014247.2 +1 validated p.F341S 1.000 123 0% 190 42.6% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_RasGEF_N,HMMSmart_RasGEFN,superfamily_Ras_GEF RAPGEF2 9693 genome.wustl.edu 37 4 160274670 160274670 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_014247.2 +1 validated p.L1214V 0.993 76 1.3% 79 59.5% 8 50% benign(0.05) deleterious(0.03) neutral(0.367) NULL NPY5R 4889 genome.wustl.edu 37 4 164272516 164272516 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_006174.2 +1 provisional p.R364Q 0.974 199 0% 231 49.4% 0 - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMPfam_7tm_1,superfamily_SSF81321 TKTL2 84076 genome.wustl.edu 37 4 164393029 164393029 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_032136.4 -1 validated p.V620I 1.000 134 0% 141 48.9% 0 - probably_damaging(0.999) deleterious(0.05) deleterious(0.836) superfamily_Transketo_C_like TKTL2 84076 genome.wustl.edu 37 4 164393031 164393031 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_032136.4 -1 validated p.A619V 1.000 132 0% 139 42.4% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Transketo_C_like GALNTL6 442117 genome.wustl.edu 37 4 173734789 173734789 + Nonsense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001034845.2 +1 validated p.R280* 1.000 50 0% 70 42.9% 0 - - - - HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases CEP44 80817 genome.wustl.edu 37 4 175231080 175231080 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001145314.1 +1 validated p.S253L 0.000 140 0% 191 45% 0 - benign(0) tolerated(1) - NULL STOX2 56977 genome.wustl.edu 37 4 184931994 184931994 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_020225.1 +1 provisional p.S668L 0.078 15 0% 23 43.5% 0 - benign(0.032) tolerated(0.12) neutral(0.262) NULL CASP3 836 genome.wustl.edu 37 4 185553522 185553522 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_004346.3 -1 reviewed p.V69 0.094 245 0% 348 48.6% 1 100% - - - HMMPfam_Peptidase_C14,HMMSmart_SM00115,superfamily_Caspase-like CCDC110 256309 genome.wustl.edu 37 4 186379706 186379706 + Nonsense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_152775.3 -1 validated p.E679* 0.994 194 0% 241 45.2% 0 - - - - NULL ZFP42 132625 genome.wustl.edu 37 4 188924697 188924697 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_174900.3 +1 validated p.R246W 0.999 74 0% 100 47% 0 - possibly_damaging(0.893) deleterious(0.01) deleterious(0.758) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LRRC14B 389257 genome.wustl.edu 37 5 195280 195280 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001080478.1 +1 provisional p.E453K 0.000 37 0% 40 50% 1 0% benign(0) tolerated(0.94) - NULL AHRR 57491 genome.wustl.edu 37 5 353861 353861 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_020731.3 +1 reviewed p.A31T 0.005 17 0% 17 41.2% 0 - benign(0.004) tolerated(0.35) neutral(0.021) NULL C5orf38 153571 genome.wustl.edu 37 5 2752847 2752847 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_178569.2 +1 provisional p.P104 0.000 18 0% 15 46.7% 0 - - - - NULL ADAMTS16 170690 genome.wustl.edu 37 5 5146303 5146303 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_139056.2 +1 reviewed p.I79S 0.129 20 0% 37 59.5% 6 50% possibly_damaging(0.558) deleterious(0.02) deleterious(0.574) NULL TRIO 7204 genome.wustl.edu 37 5 14293230 14293230 + Missense_Mutation SNP C C G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_007118.2 +1 validated p.A388G 1.000 77 0% 80 43.8% 13 30.7% unknown(0) tolerated(0.06) - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat FAM105A 54491 genome.wustl.edu 37 5 14610362 14610362 + Missense_Mutation SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_019018.2 +1 validated p.D337G 1.000 54 0% 50 32% 2 50% benign(0.009) deleterious(0.04) neutral(0.349) NULL PRDM9 56979 genome.wustl.edu 37 5 23522948 23522948 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_020227.2 +1 provisional p.R279Q 0.973 46 0% 63 39.7% 0 - possibly_damaging(0.516) tolerated(1) neutral(0.173) HMMSmart_SET,superfamily_SSF82199 CDH10 1008 genome.wustl.edu 37 5 24509906 24509906 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_006727.2 -1 reviewed p.R342I 0.794 118 0% 155 43.2% 0 - probably_damaging(0.994) deleterious(0.04) deleterious(0.801) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin ADAMTS12 81792 genome.wustl.edu 37 5 33751564 33751564 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_030955.2 -1 reviewed p.I193 0.457 126 0% 162 37.7% 0 - - - - HMMPfam_Pep_M12B_propep RXFP3 51289 genome.wustl.edu 37 5 33937393 33937393 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_016568.3 +1 validated p.S183L 0.995 39 0% 26 53.8% 0 - possibly_damaging(0.598) deleterious(0.01) deleterious(0.613) HMMPfam_7tm_1,superfamily_SSF81321 RAI14 26064 genome.wustl.edu 37 5 34803837 34803837 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001145525.1 +1 validated p.A96T 0.996 67 0% 70 50% 36 13.8% possibly_damaging(0.889) deleterious(0) deleterious(0.794) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK SPEF2 79925 genome.wustl.edu 37 5 35793302 35793302 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_024867.3 +1 validated p.F1532 0.167 107 0% 128 35.2% 6 16.6% - - - NULL MRPS30 10884 genome.wustl.edu 37 5 44811174 44811174 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_016640.3 +1 reviewed p.R222Q 1.000 180 0% 225 47.1% 9 55.5% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_PDCD9 PPAP2A 8611 genome.wustl.edu 37 5 54721147 54721147 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_176895.1 -1 reviewed p.D249N 1.000 178 0% 291 41.2% 1 0% possibly_damaging(0.483) tolerated(0.06) deleterious(0.483) HMMPfam_PAP2,superfamily_Acid phosphatase/Vanadium-dependent haloperoxidase DDX4 54514 genome.wustl.edu 37 5 55063726 55063726 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_024415.2 +1 validated p.E118K 1.000 128 0% 161 42.2% 0 - unknown(0) - - NULL IL31RA 133396 genome.wustl.edu 37 5 55212787 55212787 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_139017.4 +1 validated p.R712C 0.000 64 0% 54 51.9% 0 - benign(0) tolerated(0.12) neutral(0.261) NULL DEPDC1B 55789 genome.wustl.edu 37 5 59893588 59893588 + Nonsense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_018369.2 -1 validated p.R528* 1.000 255 0% 383 42.8% 1 0% - - - NULL MARVELD2 153562 genome.wustl.edu 37 5 68737429 68737429 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001038603.2 +1 validated p.R542I 1.000 205 0% 263 46.4% 0 - probably_damaging(0.989) deleterious(0.02) deleterious(0.823) HMMPfam_Occludin_ELL GFM2 84340 genome.wustl.edu 37 5 74021922 74021922 + Silent SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_032380.3 -1 reviewed p.R586 0.657 118 0% 156 45.5% 5 20% - - - superfamily_Ribosomal protein S5 domain 2-like IQGAP2 10788 genome.wustl.edu 37 5 75888751 75888751 + Splice_Site SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_006633.2 +1 validated e9+1 1.000 94 0% 128 42.2% 0 - - - - - RASA1 5921 genome.wustl.edu 37 5 86674233 86674233 + Nonsense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002890.1 +1 reviewed p.R789* 1.000 96 0% 132 49.2% 6 0% - - - HMMPfam_RasGAP,HMMSmart_SM00323,superfamily_GTPase activation domain GAP RASA1 5921 genome.wustl.edu 37 5 86676356 86676356 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002890.1 +1 reviewed p.Q878H 1.000 242 0% 295 46.4% 2 50% probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_RasGAP,HMMSmart_SM00323,superfamily_GTPase activation domain GAP MEF2C 4208 genome.wustl.edu 37 5 88018658 88018658 + Missense_Mutation SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000506554 -1 known p.F371S 1.000 155 0% 204 43.6% 2 0% unknown(0) tolerated(0.8) - NULL FAM172A 83989 genome.wustl.edu 37 5 92956759 92956759 + Silent SNP G G C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_032042.5 -1 validated p.A395 0.930 31 0% 18 50% 6 50% - - - NULL FAM172A 83989 genome.wustl.edu 37 5 93217243 93217243 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_032042.5 -1 validated p.R240Q 1.000 409 0% 508 44.1% 0 - possibly_damaging(0.946) tolerated(0.42) neutral(0.404) HMMPfam_Arb2 KIAA0825 285600 genome.wustl.edu 37 5 93820574 93820574 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001145678.1 -1 validated p.F344 0.979 137 0% 202 43.6% 0 - - - - NULL LNPEP 4012 genome.wustl.edu 37 5 96315297 96315297 + Nonsense_Mutation SNP A A T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_005575.2 +1 reviewed p.K159* 1.000 66 0% 107 47.7% 0 - - - - superfamily_Leukotriene A4 hydrolase N-terminal domain FER 2241 genome.wustl.edu 37 5 108171463 108171463 + Nonsense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_005246.2 +1 reviewed p.E146* 1.000 124 0% 132 34.8% 0 - - - - NULL WDR36 134430 genome.wustl.edu 37 5 110443024 110443024 + Silent SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_139281.2 +1 reviewed p.I460 0.996 151 0% 198 40.9% 2 50% - - - superfamily_WD40_like APC 324 genome.wustl.edu 37 5 112173917 112173917 + Nonsense_Mutation SNP C C T rs121913333 TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000038.4 +1 reviewed p.R876* 1.000 62 0% 115 53% 0 - - - - NULL APC 324 genome.wustl.edu 37 5 112175639 112175639 + Nonsense_Mutation SNP C C T rs121913332 TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000038.4 +1 reviewed p.R1450* 1.000 139 0% 179 48% 0 - - - - NULL DCP2 167227 genome.wustl.edu 37 5 112328433 112328433 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_152624.4 +1 validated p.K133T 1.000 197 0% 259 42.1% 0 - possibly_damaging(0.654) deleterious(0.01) deleterious(0.636) HMMPfam_NUDIX,superfamily_Nudix,PatternScan_NUDIX YTHDC2 64848 genome.wustl.edu 37 5 112888986 112888986 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_022828.3 +1 validated p.F599 1.000 97 0% 136 36% 0 - - - - superfamily_SSF52540 CCDC112 153733 genome.wustl.edu 37 5 114607090 114607090 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001040440.2 -1 validated p.E384D 1.000 476 0% 609 43.5% 0 - possibly_damaging(0.837) tolerated(0.49) neutral(0.330) NULL CCDC112 153733 genome.wustl.edu 37 5 114620507 114620507 + Silent SNP G G C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001040440.2 -1 validated p.R72 0.972 115 0% 154 50% 1 0% - - - NULL PRR16 51334 genome.wustl.edu 37 5 120022105 120022105 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_016644.1 +1 provisional p.R183W 0.963 62 0% 84 51.2% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZNF608 57507 genome.wustl.edu 37 5 123980330 123980330 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_020747.2 -1 validated p.H1244N 1.000 72 0% 102 31.4% 1 0% possibly_damaging(0.891) tolerated(1) neutral(0.350) NULL ZNF608 57507 genome.wustl.edu 37 5 124080429 124080429 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_020747.2 -1 validated p.F85C 1.000 240 0% 304 41.8% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL SLC12A2 6558 genome.wustl.edu 37 5 127520157 127520157 + Silent SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001046.2 +1 validated p.R1133 1.000 219 0% 311 44.4% 12 50% - - - NULL ACSL6 23305 genome.wustl.edu 37 5 131326623 131326623 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001009185.1 -1 validated p.G103D 0.970 25 0% 15 33.3% 0 - benign(0) tolerated(1) - superfamily_SSF56801 CDKL3 51265 genome.wustl.edu 37 5 133643848 133643848 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001113575.1 -1 reviewed p.L449F 0.083 129 0% 198 47% 2 50% benign(0.002) tolerated(0.14) neutral(0.249) NULL CDKL3 51265 genome.wustl.edu 37 5 133702067 133702067 + Nonsense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001113575.1 -1 reviewed p.E50* 1.000 182 0% 256 46.9% 0 - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PKD2L2 27039 genome.wustl.edu 37 5 137235301 137235301 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_014386.2 +1 validated p.S207 0.968 143 0% 179 47.5% 0 - - - - HMMPfam_PKD_channel PKD2L2 27039 genome.wustl.edu 37 5 137242064 137242064 + Nonsense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_014386.2 +1 validated p.E306* 0.931 271 0.4% 431 42.7% 0 - - - - HMMPfam_PKD_channel WNT8A 7478 genome.wustl.edu 37 5 137420265 137420265 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_058244.2 +1 reviewed p.E61K 1.000 53 0% 53 45.3% 0 - possibly_damaging(0.892) deleterious(0.03) deleterious(0.716) HMMPfam_wnt,HMMSmart_SM00097 KDM3B 51780 genome.wustl.edu 37 5 137767186 137767186 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_016604.3 +1 validated p.R1715C 1.000 71 0% 104 45.2% 43 55.8% benign(0.157) tolerated(0.16) neutral(0.073) HMMSmart_SM00558,superfamily_Clavaminate synthase-like MATR3 9782 genome.wustl.edu 37 5 138661049 138661049 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000394800 +1 known p.S738L 1.000 23 0% 33 33.3% 5 40% benign(0) tolerated(0.35) neutral(0.021) NULL PCDHA6 56142 genome.wustl.edu 37 5 140208566 140208566 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_018909.2 +1 reviewed p.R297Q 0.000 80 0% 100 48% 0 - benign(0.011) tolerated(0.09) neutral(0.297) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA11 56138 genome.wustl.edu 37 5 140249494 140249494 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_018902.3 +1 reviewed p.R269Q 0.000 39 0% 53 50.9% 1 100% benign(0.006) tolerated(0.33) neutral(0.024) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA13 56136 genome.wustl.edu 37 5 140262269 140262269 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_018904.2 +1 reviewed p.R139Q 0.000 105 0% 98 40.8% 0 - benign(0.222) tolerated(0.66) neutral(0.024) HMMPfam_Cadherin,superfamily_Cadherin-like PCDHAC1 56135 genome.wustl.edu 37 5 140308704 140308704 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_018898.3 +1 reviewed p.D743Y 0.995 122 0% 153 45.1% 0 - probably_damaging(0.993) deleterious(0) deleterious(0.895) NULL PCDHB3 56132 genome.wustl.edu 37 5 140480968 140480968 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_018937.2 +1 reviewed p.P245 0.000 27 0% 48 35.4% 2 50% - - - superfamily_Cadherin-like PCDHB15 56121 genome.wustl.edu 37 5 140626688 140626688 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_018935.2 +1 reviewed p.F514 0.998 41 0% 45 33.3% 2 0% - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHGA4 56111 genome.wustl.edu 37 5 140737062 140737062 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_018917.2 +1 reviewed p.K765N 0.989 73 0% 92 44.6% 2 50% - - - NULL PCDHGC3 5098 genome.wustl.edu 37 5 140856895 140856895 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002588.2 +1 reviewed p.K404N 1.000 61 0% 53 43.4% 14 57.1% probably_damaging(0.998) tolerated(0.56) deleterious(0.481) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like KCTD16 57528 genome.wustl.edu 37 5 143586978 143586978 + Missense_Mutation SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_020768.3 +1 validated p.E234G 1.000 86 0% 74 43.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SPINK5 11005 genome.wustl.edu 37 5 147478852 147478852 + Nonsense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001127698.1 +1 reviewed p.E356* 0.756 141 0% 198 42.4% 0 - - - - NULL ABLIM3 22885 genome.wustl.edu 37 5 148617051 148617051 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_014945.2 +1 validated p.A310V 1.000 80 1.3% 102 44.1% 0 - probably_damaging(0.954) deleterious(0.01) deleterious(0.803) NULL PCYOX1L 78991 genome.wustl.edu 37 5 148742293 148742293 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_024028.3 +1 validated p.G61E 0.718 36 0% 30 26.7% 14 28.5% possibly_damaging(0.8) tolerated(0.86) neutral(0.301) HMMPfam_DAO,superfamily_FAD/NAD(P)-binding domain FAM114A2 10827 genome.wustl.edu 37 5 153390854 153390854 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_018691.2 -1 validated p.T314P 1.000 132 0% 185 43.8% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL SLIT3 6586 genome.wustl.edu 37 5 168123364 168123364 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_003062.2 -1 validated p.C1005 0.337 113 0% 122 50% 12 0% - - - HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_CA,superfamily_EGF/Laminin FAF2 23197 genome.wustl.edu 37 5 175919247 175919247 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_014613.2 +1 reviewed p.V133I 1.000 100 0% 157 45.9% 6 50% benign(0.051) tolerated(0.06) neutral(0.326) NULL GPRIN1 114787 genome.wustl.edu 37 5 176026161 176026161 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_052899.2 -1 validated p.T225 0.000 35 0% 57 54.4% 0 - - - - NULL HK3 3101 genome.wustl.edu 37 5 176323148 176323148 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002115.2 -1 reviewed p.G5R 0.029 38 0% 45 42.2% 0 - possibly_damaging(0.631) deleterious(0.02) deleterious(0.604) NULL RNF130 55819 genome.wustl.edu 37 5 179405223 179405223 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_018434.4 -1 reviewed p.V276 0.979 121 0% 188 47.3% 84 46.4% - - - HMMSmart_RING,HMMPfam_zf-C3HC4,superfamily_SSF57850 MYLK4 340156 genome.wustl.edu 37 6 2685747 2685747 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001012418.3 -1 validated p.K135N 1.000 67 0% 74 40.5% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase F13A1 2162 genome.wustl.edu 37 6 6225075 6225075 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000129.3 -1 reviewed p.E273K 0.864 48 0% 53 47.2% 2 0% benign(0.001) tolerated(0.2) neutral(0.049) superfamily_SSF54001 CAGE1 285782 genome.wustl.edu 37 6 7356295 7356295 + Missense_Mutation SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000502583 -1 known p.D754G 0.998 510 0% 674 44.2% 0 - benign(0.063) deleterious(0) neutral(0.449) NULL DSP 1832 genome.wustl.edu 37 6 7583375 7583375 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_004415.2 +1 reviewed p.T1960 0.003 100 0% 126 46.8% 20 30% - - - NULL DSP 1832 genome.wustl.edu 37 6 7584968 7584968 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_004415.2 +1 reviewed p.E2491D 0.843 83 0% 120 45% 50 60% benign(0) tolerated(0.53) neutral(0.007) HMMPfam_Plectin,HMMSmart_SM00250,superfamily_Plakin repeat BMP6 654 genome.wustl.edu 37 6 7862669 7862669 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001718.4 +1 reviewed p.R381Q 0.567 38 0% 29 62.1% 3 0% possibly_damaging(0.85) deleterious(0.03) deleterious(0.692) NULL ELOVL2 54898 genome.wustl.edu 37 6 11000334 11000334 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_017770.3 -1 validated p.E107K 1.000 170 0% 243 41.2% 0 - benign(0.016) tolerated(0.13) neutral(0.253) HMMPfam_ELO HIVEP1 3096 genome.wustl.edu 37 6 12120281 12120281 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002114.2 +1 validated p.A85T 0.000 140 0% 217 46.5% 0 - benign(0) tolerated(0.18) neutral(0.056) NULL TBC1D7 51256 genome.wustl.edu 37 6 13327056 13327056 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001143964.1 -1 validated p.K25N 1.000 201 0% 279 13.3% 8 25% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Ypt/Rab-GAP domain of gyp1p HIST1H3G 8355 genome.wustl.edu 37 6 26271326 26271326 + Missense_Mutation SNP G G C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_003534.2 -1 reviewed p.A96G 1.000 51 0% 54 50% 1 0% benign(0.001) - - HMMSmart_SM00428,HMMPfam_Histone,superfamily_Histone-fold PGBD1 84547 genome.wustl.edu 37 6 28269871 28269871 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_032507.3 +1 reviewed p.S747L 0.822 118 0% 160 43.1% 5 60% possibly_damaging(0.832) tolerated(0.06) deleterious(0.639) NULL MDC1 9656 genome.wustl.edu 37 6 30672771 30672771 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_014641.2 -1 reviewed p.N1397H 0.001 158 0% 251 45.8% 5 60% benign(0.005) tolerated(0.13) neutral(0.253) NULL CYP21A2 1589 genome.wustl.edu 37 6 32006555 32006555 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000500.5 +1 reviewed p.A87T 0.458 97 0% 99 34.3% 1 100% benign(0.029) tolerated(0.09) neutral(0.298) HMMPfam_p450,superfamily_Cytochrome_P450 MLN 4295 genome.wustl.edu 37 6 33768936 33768936 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002418.2 -1 reviewed p.V2G 1.000 22 0% 37 35.1% 0 - possibly_damaging(0.881) deleterious(0) deleterious(0.788) NULL TAF11 6882 genome.wustl.edu 37 6 34847766 34847766 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_005643.2 -1 reviewed p.F161 1.000 230 0% 348 39.1% 10 0% - - - HMMPfam_TAFII28,superfamily_Histone-fold ARMC12 221481 genome.wustl.edu 37 6 35715059 35715059 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_145028.3 +1 predicted p.E183K 0.996 149 0% 153 37.3% 2 50% probably_damaging(0.996) tolerated(0.12) deleterious(0.722) HMMPfam_DUF634,superfamily_ARM-type_fold SRPK1 6732 genome.wustl.edu 37 6 35854584 35854584 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_003137.3 -1 reviewed p.R132H 0.999 222 0% 332 50.9% 3 66.6% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PNPLA1 285848 genome.wustl.edu 37 6 36270181 36270181 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001145716.1 +1 validated p.R354Q 0.000 47 0% 79 51.9% 0 - benign(0.012) tolerated(0.38) neutral(0.018) NULL MTCH1 23787 genome.wustl.edu 37 6 36945015 36945015 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_014341.1 -1 provisional p.R221C 1.000 13 0% 20 40% 298 47.3% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Mitochondrial carrier BTBD9 114781 genome.wustl.edu 37 6 38548205 38548205 + Nonsense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001099272.1 -1 reviewed p.E275* 1.000 79 0% 136 43.4% 0 - - - - superfamily_Gal_bind_like ENPP5 59084 genome.wustl.edu 37 6 46133195 46133195 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_021572.4 -1 validated p.R312Q 0.270 263 0.4% 332 42.2% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Phosphodiest,superfamily_Alkaline phosphatase-like TNFRSF21 27242 genome.wustl.edu 37 6 47253803 47253803 + Missense_Mutation SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_014452.3 -1 reviewed p.N209D 1.000 89 0% 74 43.2% 161 44% probably_damaging(0.979) deleterious(0.01) deleterious(0.828) HMMSmart_TNFR OPN5 221391 genome.wustl.edu 37 6 47754306 47754306 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_181744.2 +1 reviewed p.K62N 1.000 208 0% 313 48.2% 0 - probably_damaging(0.996) deleterious(0.03) deleterious(0.826) HMMPfam_7tm_1,superfamily_SSF81321 CRISP2 7180 genome.wustl.edu 37 6 49665641 49665641 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001142407.1 -1 validated p.G149 0.995 202 0% 239 52.7% 0 - - - - HMMSmart_SM00198,HMMPfam_SCP,superfamily_PR-1-like TFAP2D 83741 genome.wustl.edu 37 6 50712944 50712944 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_172238.3 +1 validated p.K336N 1.000 165 0% 234 42.3% 0 - benign(0.012) tolerated(1) neutral(0.001) HMMPfam_TF_AP-2 DST 667 genome.wustl.edu 37 6 56362287 56362287 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_015548.4 -1 reviewed p.E4082K 1.000 118 0% 130 41.5% 3 0% possibly_damaging(0.946) - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat DST 667 genome.wustl.edu 37 6 56484057 56484057 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001723.5 -1 reviewed p.R1592I 0.935 189 0% 260 10.8% 0 - probably_damaging(0.976) deleterious(0.01) deleterious(0.824) NULL EYS 346007 genome.wustl.edu 37 6 66200512 66200512 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001142800.1 -1 reviewed p.I279M 0.923 150 0% 179 41.3% 0 - probably_damaging(0.983) tolerated(0.11) deleterious(0.701) HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,superfamily_EGF/Laminin BAI3 577 genome.wustl.edu 37 6 69349008 69349008 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001704.2 +1 reviewed p.E147D 0.997 82 0% 110 53.6% 0 - benign(0) tolerated(0.61) neutral(0.004) NULL LMBRD1 55788 genome.wustl.edu 37 6 70386117 70386117 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_018368.3 -1 reviewed p.S519L 1.000 246 0% 314 45.9% 13 61.5% probably_damaging(0.996) tolerated(0.13) deleterious(0.714) NULL SMAP1 60682 genome.wustl.edu 37 6 71566692 71566692 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001044305.1 +1 reviewed p.S307F 1.000 111 0% 152 35.5% 8 37.5% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL RIMS1 22999 genome.wustl.edu 37 6 73000540 73000540 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_014989.4 +1 reviewed p.A1238V 1.000 54 0% 67 35.8% 0 - possibly_damaging(0.496) tolerated(0.16) neutral(0.225) NULL FILIP1 27145 genome.wustl.edu 37 6 76024624 76024624 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_015687.2 -1 validated p.S308 0.001 284 0% 334 40.7% 0 - - - - HMMPfam_CortBP2 CYB5R4 51167 genome.wustl.edu 37 6 84603248 84603248 + Silent SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_016230.3 +1 validated p.V79 1.000 246 0% 308 43.8% 2 100% - - - HMMPfam_Cyt-b5,superfamily_Cyt_B5 SNX14 57231 genome.wustl.edu 37 6 86238022 86238022 + Silent SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_153816.3 -1 reviewed p.E651 1.000 321 0% 422 46.7% 3 66.6% - - - HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain PNISR 25957 genome.wustl.edu 37 6 99848823 99848823 + Nonsense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_015491.1 -1 validated p.R671* 1.000 528 0% 665 42.4% 35 34.2% - - - NULL PREP 5550 genome.wustl.edu 37 6 105821283 105821283 + Missense_Mutation SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002726.3 -1 reviewed p.F186L 1.000 132 0% 180 45.6% 42 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_S9_N,superfamily_Peptidase_S9A_N AKD1 221264 genome.wustl.edu 37 6 109814732 109814732 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000424296 -1 known p.K938T 1.000 151 0% 204 48.5% 1 100% possibly_damaging(0.719) deleterious(0.04) deleterious(0.609) NULL LAMA4 3910 genome.wustl.edu 37 6 112454034 112454034 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001105206.1 -1 reviewed p.S1252Y 1.000 175 0% 260 48.1% 0 - probably_damaging(0.991) deleterious(0.02) deleterious(0.827) superfamily_Concanavalin A-like lectins/glucanases FAM26F 441168 genome.wustl.edu 37 6 116784637 116784637 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001010919.1 +1 predicted p.C239W 0.998 137 0% 195 46.2% 1 100% probably_damaging(0.989) deleterious(0.02) deleterious(0.823) NULL BET3L 100128327 genome.wustl.edu 37 6 116864552 116864552 + Silent SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001139444.2 -1 validated p.L18 0.989 137 0% 228 41.7% 0 - - - - HMMPfam_TRAPP RSPH4A 345895 genome.wustl.edu 37 6 116938194 116938194 + Silent SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001010892.2 +1 reviewed p.E136 0.026 107 0% 125 40.8% 5 80% - - - NULL KPNA5 3841 genome.wustl.edu 37 6 117010567 117010567 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002269.2 +1 reviewed p.R30Q 1.000 198 0.5% 302 40.4% 0 - probably_damaging(0.999) tolerated(0.06) deleterious(0.813) HMMPfam_IBB KPNA5 3841 genome.wustl.edu 37 6 117050820 117050820 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002269.2 +1 reviewed p.N450H 1.000 168 0% 195 46.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat RFX6 222546 genome.wustl.edu 37 6 117201716 117201716 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_173560.2 +1 validated p.E130D 0.993 164 0% 193 44% 0 - benign(0.01) tolerated(0.59) neutral(0.005) HMMPfam_RFX_DNA_binding,superfamily_SSF46785 C6orf170 221322 genome.wustl.edu 37 6 121655505 121655505 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_152730.4 -1 validated p.K24N 1.000 58 0% 60 38.3% 0 - probably_damaging(0.995) tolerated(0.26) deleterious(0.492) NULL HSF2 3298 genome.wustl.edu 37 6 122741341 122741341 + Nonsense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_004506.3 +1 validated p.E219* 1.000 272 0% 343 40.8% 0 - - - - NULL HDDC2 51020 genome.wustl.edu 37 6 125619920 125619920 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_016063.2 -1 validated p.I83 1.000 291 0% 374 48.1% 25 12% - - - HMMSmart_SM00471,HMMPfam_HD HINT3 135114 genome.wustl.edu 37 6 126293444 126293444 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_138571.4 +1 validated p.R120I 0.968 192 0% 225 41.3% 3 66.6% possibly_damaging(0.903) tolerated(0.09) deleterious(0.654) HMMPfam_HIT,superfamily_His_triad-like_motif RSPO3 84870 genome.wustl.edu 37 6 127476430 127476430 + Missense_Mutation SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_032784.3 +1 reviewed p.K161E 0.987 147 0% 202 50.5% 2 0% possibly_damaging(0.946) tolerated(0.06) deleterious(0.713) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat LAMA2 3908 genome.wustl.edu 37 6 129785508 129785508 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000426.3 +1 reviewed p.R2356C 1.000 107 0% 148 42.6% 4 25% probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_ConA_like_lec_gl SAMD3 154075 genome.wustl.edu 37 6 130465892 130465892 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001017373.2 -1 validated p.E446K 1.000 37 0% 77 42.9% 0 - possibly_damaging(0.753) tolerated(0.3) neutral(0.305) NULL VNN2 8875 genome.wustl.edu 37 6 133072350 133072350 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_004665.2 -1 reviewed p.E378 0.000 167 0% 237 43.5% 0 - - - - NULL NHSL1 57224 genome.wustl.edu 37 6 138754312 138754312 + Silent SNP G G A rs112913420 by1000genomes TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001144060.1 -1 validated p.F390 0.007 124 0% 145 49% 2 0% - - - NULL VTA1 51534 genome.wustl.edu 37 6 142525197 142525197 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_016485.3 +1 provisional p.S258F 0.984 259 0% 304 46.1% 15 33.3% possibly_damaging(0.476) tolerated(0.07) deleterious(0.476) HMMPfam_DUF605 SASH1 23328 genome.wustl.edu 37 6 148808762 148808762 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_015278.3 +1 validated p.E214K 0.986 21 0% 35 40% 0 - possibly_damaging(0.647) deleterious(0) deleterious(0.671) NULL PPIL4 85313 genome.wustl.edu 37 6 149842201 149842201 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_139126.2 -1 reviewed p.G326E 1.000 278 0% 336 42% 3 33.3% probably_damaging(1) tolerated(0.09) deleterious(0.796) superfamily_RNA-binding domain RBD IYD 389434 genome.wustl.edu 37 6 150690236 150690236 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_203395.2 +1 reviewed p.A23 0.003 66 0% 95 42.1% 0 - - - - NULL SYNE1 23345 genome.wustl.edu 37 6 152651599 152651599 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_182961.2 -1 reviewed p.R4741C 0.984 83 0% 71 46.5% 0 - probably_damaging(1) - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat VIP 7432 genome.wustl.edu 37 6 153077365 153077365 + Nonsense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000431366 +1 known p.E94* 1.000 102 0% 122 36.9% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Hormone_2,HMMSmart_SM00070,PatternScan_GLUCAGON PLG 5340 genome.wustl.edu 37 6 161134082 161134082 + Missense_Mutation SNP G G A rs141045811 by1000genomes TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000301.3 +1 reviewed p.D158N 0.990 81 0% 160 47.5% 0 - probably_damaging(1) tolerated(0.1) deleterious(0.786) HMMPfam_Kringle,HMMSmart_KR,superfamily_Kringle-like,PatternScan_KRINGLE_1 PLG 5340 genome.wustl.edu 37 6 161139746 161139746 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000301.3 +1 reviewed p.C324 0.994 75 0% 91 41.8% 0 - - - - HMMPfam_Kringle,HMMSmart_KR,superfamily_Kringle-like,PatternScan_KRINGLE_1 T 6862 genome.wustl.edu 37 6 166578343 166578343 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_003181.2 -1 reviewed p.A205T 0.998 139 0% 155 46.5% 0 - benign(0.289) deleterious(0.01) deleterious(0.495) HMMPfam_T-box,HMMSmart_TBOX,superfamily_P53_like_DNA_bnd T 6862 genome.wustl.edu 37 6 166581059 166581059 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_003181.2 -1 reviewed p.E7 0.998 7 0.000 16 0.438 0 - - - - NULL MLLT4 4301 genome.wustl.edu 37 6 168276057 168276057 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001040001.1 +1 validated p.P206 0.623 119 0% 123 41.5% 0 - - - - NULL RNF216P1 441191 genome.wustl.edu 37 7 5028766 5028766 + Nonsense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000404006 +1 known p.E53* 1.000 95 0% 138 46.4% 0 - - - - NULL RBAK 57786 genome.wustl.edu 37 7 5104405 5104405 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_021163.3 +1 reviewed p.R440W 0.731 61 0% 78 44.9% 0 - probably_damaging(1) tolerated(0.2) deleterious(0.549) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CCZ1 51622 genome.wustl.edu 37 7 5939968 5939968 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_015622.5 +1 validated p.K58N 1.000 426 0% 646 35.1% 3 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_DUF2049 ENSG00000198580 0 genome.wustl.edu 37 7 6713789 6713789 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000401847 +1 known p.R61I 1.000 7 0.000 11 0.727 0 - benign(0.001) deleterious(0.01) neutral(0.406) superfamily_C2H2 and C2HC zinc fingers ZNF12 7559 genome.wustl.edu 37 7 6730531 6730531 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_016265.3 -1 reviewed p.R681I 1.000 167 0% 248 46% 0 - probably_damaging(0.996) tolerated(0.09) deleterious(0.758) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF12 7559 genome.wustl.edu 37 7 6730862 6730862 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_016265.3 -1 reviewed p.H571N 1.000 103 0% 148 39.2% 0 - probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 DGKB 1607 genome.wustl.edu 37 7 14378235 14378235 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_004080.2 -1 reviewed p.S677Y 1.000 221 0% 270 44.4% 0 - benign(0.093) deleterious(0.01) neutral(0.413) HMMPfam_DAGK_acc,HMMSmart_SM00045 ISPD 729920 genome.wustl.edu 37 7 16298581 16298581 + Silent SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001101426.3 -1 validated p.I330 0.016 94 0% 133 43.6% 2 0% - - - NULL SOSTDC1 25928 genome.wustl.edu 37 7 16502378 16502378 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_015464.2 -1 reviewed p.R139H 1.000 116 0% 103 41.7% 19 73.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sclerostin DNAH11 8701 genome.wustl.edu 37 7 21924013 21924013 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_003777.3 +1 reviewed p.F4171 1.000 85 0% 113 46.9% 1 100% - - - HMMPfam_Dynein_heavy FAM126A 84668 genome.wustl.edu 37 7 22985591 22985591 + Nonsense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_032581.3 -1 reviewed p.E395* 1.000 95 0% 142 45.1% 0 - - - - NULL PDE1C 5137 genome.wustl.edu 37 7 31864484 31864484 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_005020.1 -1 provisional p.S468L 1.000 89 0% 89 43.8% 0 - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) superfamily_SSF109604 ELMO1 9844 genome.wustl.edu 37 7 37251016 37251016 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_014800.9 -1 reviewed p.R354Q 1.000 103 0% 141 43.3% 4 25% benign(0.269) tolerated(0.46) neutral(0.041) HMMPfam_ELMO_CED12 SFRP4 6424 genome.wustl.edu 37 7 37951817 37951817 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_003014.3 -1 reviewed p.R232Q 0.983 224 0% 278 43.2% 12 8.3% benign(0.172) deleterious(0.01) neutral(0.421) superfamily_TIMP_like,HMMPfam_NTR,HMMSmart_C345C GLI3 2737 genome.wustl.edu 37 7 42005181 42005181 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000168.5 -1 reviewed p.E1164K 1.000 33 0% 22 45.5% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL GLI3 2737 genome.wustl.edu 37 7 42079764 42079764 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000168.5 -1 reviewed p.D301N 1.000 159 0% 197 41.6% 5 0% possibly_damaging(0.929) deleterious(0) deleterious(0.821) NULL C7orf25 79020 genome.wustl.edu 37 7 42950356 42950356 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001099858.1 -1 validated p.F106L 0.993 201 0% 253 40.7% 1 100% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_DUF1308 PSMA2 5683 genome.wustl.edu 37 7 42964341 42964341 + Nonsense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002787.4 -1 reviewed p.E103* 1.000 135 0% 182 41.8% 127 4.7% - - - HMMPfam_Proteasome,superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases) OGDH 4967 genome.wustl.edu 37 7 44664106 44664106 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002541.3 +1 reviewed p.S55L 0.999 97 0% 114 39.5% 9 55.5% possibly_damaging(0.594) deleterious(0.03) deleterious(0.570) NULL OGDH 4967 genome.wustl.edu 37 7 44714840 44714840 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002541.3 +1 reviewed p.F333 0.791 69 0% 98 41.8% 15 33.3% - - - HMMPfam_E1_dh,superfamily_SSF52518 GRB10 2887 genome.wustl.edu 37 7 50685802 50685802 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_005311.4 -1 reviewed p.Q271P 1.000 117 0% 131 44.3% 0 - possibly_damaging(0.88) tolerated(0.14) deleterious(0.593) NULL WBSCR17 64409 genome.wustl.edu 37 7 71036293 71036293 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_022479.1 +1 reviewed p.S329L 0.999 164 0% 229 46.7% 0 - benign(0.319) tolerated(1) neutral(0.100) HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases LAT2 7462 genome.wustl.edu 37 7 73634560 73634560 + Silent SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_014146.3 +1 reviewed p.L81 0.860 63 0% 90 47.8% 3 33.3% - - - NULL MDH2 4191 genome.wustl.edu 37 7 75695641 75695641 + Silent SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_005918.2 +1 reviewed p.S310 0.888 45 0% 89 21.3% 137 17.5% - - - HMMPfam_Ldh_1_C,superfamily_Lactate_DH/Glyco_hydro_4_C PHTF2 57157 genome.wustl.edu 37 7 77522973 77522973 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001127357.1 +1 validated p.E32K 1.000 208 0% 343 41.7% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL CD36 948 genome.wustl.edu 37 7 80303417 80303417 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000072.3 +1 reviewed p.A458D 0.998 249 0% 362 43.4% 0 - possibly_damaging(0.687) deleterious(0.01) deleterious(0.651) NULL HGF 3082 genome.wustl.edu 37 7 81346567 81346567 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000601.4 -1 reviewed p.D462E 1.000 133 0% 190 46.3% 0 - probably_damaging(1) tolerated(0.11) deleterious(0.772) HMMPfam_Kringle,HMMSmart_SM00130,superfamily_Kringle-like PCLO 27445 genome.wustl.edu 37 7 82476539 82476539 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_033026.5 -1 validated p.G4560E 1.000 167 0% 185 43.2% 0 - unknown(0) - - HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like PCLO 27445 genome.wustl.edu 37 7 82584596 82584596 + Silent SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_033026.5 -1 validated p.S1891 1.000 244 0% 313 41.5% 0 - - - - NULL KIAA1324L 222223 genome.wustl.edu 37 7 86521173 86521173 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001142749.2 -1 validated p.T966M 1.000 134 0.7% 173 38.2% 0 - possibly_damaging(0.952) deleterious(0.03) deleterious(0.760) NULL KIAA1324L 222223 genome.wustl.edu 37 7 86522377 86522377 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001142749.2 -1 validated p.K909Q 1.000 107 0% 108 43.5% 3 100% benign(0.299) tolerated(0.47) neutral(0.103) NULL CROT 54677 genome.wustl.edu 37 7 86991113 86991113 + Silent SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001143935.1 +1 reviewed p.S192 0.995 126 0% 141 48.9% 1 100% - - - HMMPfam_Carn_acyltransf,superfamily_CoA-dependent acyltransferases ABCB1 5243 genome.wustl.edu 37 7 87179256 87179256 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000927.3 -1 reviewed p.R489C 1.000 169 0% 229 50.7% 0 - probably_damaging(0.96) tolerated(0.06) deleterious(0.726) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases SAMD9 54809 genome.wustl.edu 37 7 92731165 92731165 + Nonsense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_017654.2 -1 validated p.R1416* 0.095 157 0% 208 40.4% 1 100% - - - NULL CCDC132 55610 genome.wustl.edu 37 7 92963457 92963457 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_017667.2 +1 validated p.S669N 1.000 178 0% 230 44.8% 3 33.3% possibly_damaging(0.807) deleterious(0.04) deleterious(0.653) NULL PPP1R9A 55607 genome.wustl.edu 37 7 94539496 94539496 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_017650.2 +1 validated p.R24Q 1.000 39 0% 57 43.9% 0 - unknown(0) tolerated(0.12) - NULL DYNC1I1 1780 genome.wustl.edu 37 7 95614127 95614127 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_004411.4 +1 validated p.A211V 0.997 115 0% 154 44.8% 0 - benign(0) tolerated(0.41) neutral(0.015) superfamily_WD40 repeat-like DYNC1I1 1780 genome.wustl.edu 37 7 95614248 95614248 + Silent SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_004411.4 +1 validated p.I251 1.000 155 0% 276 51.8% 0 - - - - superfamily_WD40 repeat-like ASNS 440 genome.wustl.edu 37 7 97482687 97482687 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001673.4 -1 reviewed p.R417K 1.000 137 0% 180 46.7% 5 60% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Asn_synthase,superfamily_SSF52402 AZGP1 563 genome.wustl.edu 37 7 99565730 99565730 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000411734 -1 known p.D218N 0.000 44 0% 63 42.9% 0 - unknown(0) tolerated(1) - NULL MUC12 10071 genome.wustl.edu 37 7 100642736 100642736 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000379442 +1 known p.E3107 0.002 901 0.2% 1138 8.4% 0 - - - - NULL CUX1 1523 genome.wustl.edu 37 7 101758501 101758501 + Nonsense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_181552.2 +1 reviewed p.R208* 1.000 153 0% 196 46.9% 1 0% - - - NULL RELN 5649 genome.wustl.edu 37 7 103207069 103207069 + Nonsense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_005045.3 -1 reviewed p.R1576* 1.000 61 0% 92 38% 0 - - - - NULL ATXN7L1 222255 genome.wustl.edu 37 7 105305536 105305536 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_020725.1 -1 validated p.A185 0.042 226 0% 389 45.5% 0 - - - - NULL SLC26A4 5172 genome.wustl.edu 37 7 107341555 107341555 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000441.1 +1 reviewed p.D573Y 1.000 135 0% 193 42.5% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_STAS,superfamily_STAS DOCK4 9732 genome.wustl.edu 37 7 111503570 111503570 + Silent SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000445943 -1 known p.S765Y 1.000 51 0% 60 51.7% 1 0% - - - NULL C7orf60 154743 genome.wustl.edu 37 7 112462308 112462308 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_152556.2 -1 validated p.L237F 1.000 73 0% 84 46.4% 0 - possibly_damaging(0.855) tolerated(0.67) neutral(0.333) NULL FOXP2 93986 genome.wustl.edu 37 7 114299666 114299666 + Nonsense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_148898.2 +1 reviewed p.E554* 1.000 186 0% 215 43.7% 0 - - - - HMMPfam_Fork_head,HMMSmart_FH,superfamily_SSF46785 MET 4233 genome.wustl.edu 37 7 116339804 116339804 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001127500.1 +1 reviewed p.T222 0.000 112 0% 132 46.2% 1 100% - - - HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema KCND2 3751 genome.wustl.edu 37 7 120372996 120372996 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_012281.2 +1 reviewed p.I385M 0.989 192 0% 232 48.7% 0 - possibly_damaging(0.94) deleterious(0) deleterious(0.830) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CADPS2 93664 genome.wustl.edu 37 7 122091447 122091447 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_017954.10 -1 reviewed p.N757H 1.000 52 0% 81 51.9% 4 75% possibly_damaging(0.923) tolerated(0.59) neutral(0.377) NULL RNF148 378925 genome.wustl.edu 37 7 122342351 122342351 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_198085.1 -1 validated p.A152T 0.702 105 0% 135 43.7% 0 - probably_damaging(0.997) deleterious(0.02) deleterious(0.849) HMMPfam_PA,superfamily_SSF52025 ASB15 142685 genome.wustl.edu 37 7 123276991 123276991 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_080928.3 +1 validated p.F575V 1.000 80 0% 109 33% 0 - benign(0.139) deleterious(0.01) neutral(0.418) HMMPfam_SOCS_box,HMMSmart_SM00253 WASL 8976 genome.wustl.edu 37 7 123346375 123346375 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_003941.2 -1 reviewed p.R131Q 1.000 145 0% 191 37.2% 1 0% benign(0.263) tolerated(0.57) neutral(0.034) HMMPfam_WH1,HMMSmart_WH1,superfamily_SSF50729 MIR593 693178 genome.wustl.edu 37 7 127721947 127721947 + RNA SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000384856 +1 known NULL 0.000 150 0% 201 49.3% 0 - - - - - FAM71F2 346653 genome.wustl.edu 37 7 128323110 128323110 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001012454.3 +1 validated p.R276I 0.998 80 0% 86 59.3% 0 - probably_damaging(0.96) deleterious(0) deleterious(0.848) NULL ENSG00000245606 0 genome.wustl.edu 37 7 130008574 130008574 + RNA SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000501661 -1 known NULL 0.000 17 0% 11 36.4% 0 - - - - - EXOC4 60412 genome.wustl.edu 37 7 132990779 132990779 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_021807.3 +1 reviewed p.R207Q 0.994 98 0% 140 42.9% 16 43.7% benign(0.036) tolerated(0.31) neutral(0.029) NULL DGKI 9162 genome.wustl.edu 37 7 137151664 137151664 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000453654 -1 known p.R541Q 1.000 123 0% 142 37.3% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL TRBV6-8 28599 genome.wustl.edu 37 7 142124290 142124290 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000390376 -1 known p.R63K 0.007 137 0% 157 13.4% 0 - benign(0.001) tolerated(0.07) neutral(0.319) HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin ARHGEF5 7984 genome.wustl.edu 37 7 144060789 144060789 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_005435.3 +1 reviewed p.E343K 0.000 383 0% 519 26.8% 2 0% benign(0) deleterious(0.03) neutral(0.364) NULL TPK1 27010 genome.wustl.edu 37 7 144320267 144320267 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_022445.3 -1 reviewed p.D116Y 0.075 342 0% 422 43.4% 0 - unknown(0) deleterious(0.02) - HMMPfam_TPK_catalytic,superfamily_TPK_catalytic EZH2 2146 genome.wustl.edu 37 7 148504761 148504761 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_004456.3 -1 reviewed p.E745K 1.000 105 0% 108 48.1% 71 45% probably_damaging(0.993) deleterious(0) deleterious(0.895) NULL TMEM176B 28959 genome.wustl.edu 37 7 150490234 150490234 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001101311.1 -1 validated p.R181Q 0.000 82 0% 102 48% 224 69.1% benign(0.003) tolerated(0.3) neutral(0.029) HMMPfam_LR8 ABCF2 10061 genome.wustl.edu 37 7 150912716 150912716 + Nonsense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_005692.3 -1 reviewed p.R502* 0.986 118 0% 188 43.6% 74 16.2% - - - HMMPfam_ABC_tran,HMMSmart_AAA,superfamily_SSF52540 ESYT2 57488 genome.wustl.edu 37 7 158560362 158560362 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_020728.2 -1 validated p.R351W 1.000 69 0% 99 38.4% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CSMD1 64478 genome.wustl.edu 37 8 2824263 2824263 + Missense_Mutation SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_033225.5 -1 validated p.S2978P 1.000 32 0% 43 53.5% 0 - probably_damaging(0.99) tolerated(0.06) deleterious(0.764) superfamily_Complement control module/SCR domain CSMD1 64478 genome.wustl.edu 37 8 3008926 3008926 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_033225.5 -1 validated p.I2009 0.032 141 0% 191 44.5% 0 - - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain ANGPT2 285 genome.wustl.edu 37 8 6420363 6420363 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001147.2 -1 reviewed p.K31N 0.974 78 0% 79 44.3% 4 0% possibly_damaging(0.61) deleterious(0) deleterious(0.656) NULL MTMR7 9108 genome.wustl.edu 37 8 17163438 17163438 + Nonsense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_004686.4 -1 reviewed p.E394* 1.000 117 0% 185 41.1% 0 - - - - HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II MTMR7 9108 genome.wustl.edu 37 8 17198899 17198899 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_004686.4 -1 reviewed p.F235 1.000 61 0% 68 41.2% 1 0% - - - HMMPfam_Myotub-related,superfamily_(Phosphotyrosine protein) phosphatases II NEFL 4747 genome.wustl.edu 37 8 24813204 24813204 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000221169 -1 known p.A276T 1.000 46 0% 41 53.7% 2 50% - - - HMMPfam_Filament DPYSL2 1808 genome.wustl.edu 37 8 26484797 26484797 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001386.4 +1 validated p.D203N 0.999 89 0% 126 40.5% 47 31.9% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_Amidohydro_1,superfamily_Composite domain of metallo-dependent hydrolases,superfamily_Metallo-dependent hydrolases EPHX2 2053 genome.wustl.edu 37 8 27361207 27361207 + Silent SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001979.4 +1 reviewed p.I91 0.780 42 0% 48 39.6% 1 0% - - - HMMPfam_Hydrolase,superfamily_SSF56784 PBK 55872 genome.wustl.edu 37 8 27680651 27680651 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_018492.2 -1 reviewed p.R75Q 0.868 137 0% 236 39% 1 0% benign(0.001) tolerated(0.59) neutral(0.004) superfamily_Kinase_like,HMMPfam_Pkinase C8orf80 389643 genome.wustl.edu 37 8 27884561 27884561 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001010906.1 -1 provisional p.I721 0.990 56 0% 64 53.1% 0 - - - - NULL KIF13B 23303 genome.wustl.edu 37 8 29006260 29006260 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_015254.3 -1 validated p.K549N 0.998 146 0% 234 44.9% 0 - benign(0.018) tolerated(0.39) neutral(0.017) NULL NRG1 3084 genome.wustl.edu 37 8 32621621 32621621 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_013956.3 +1 reviewed p.A547T 0.999 42 0% 58 53.4% 0 - benign(0) tolerated(0.7) neutral(0.002) HMMPfam_Neuregulin UNC5D 137970 genome.wustl.edu 37 8 35631843 35631843 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_080872.2 +1 validated p.F835 1.000 158 0% 202 39.6% 0 - - - - NULL IDO1 3620 genome.wustl.edu 37 8 39785539 39785539 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002164.4 +1 validated p.I349 0.025 64 0% 78 42.3% 12 50% - - - HMMPfam_IDO GINS4 84296 genome.wustl.edu 37 8 41397443 41397443 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_032336.2 +1 validated p.A135V 0.534 42 0% 61 50.8% 9 33.3% benign(0) tolerated(0.28) neutral(0.032) HMMPfam_Sld5 HOOK3 84376 genome.wustl.edu 37 8 42873529 42873529 + Missense_Mutation SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_032410.3 +1 validated p.E682G 1.000 39 0% 54 53.7% 5 0% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_HOOK MCM4 4173 genome.wustl.edu 37 8 48875323 48875323 + Splice_Site SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_005914.2 +1 reviewed e5-1 1.000 211 0% 321 38.9% 0 - - - - - OPRK1 4986 genome.wustl.edu 37 8 54142028 54142028 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000912.3 -1 validated p.S324 1.000 62 0% 63 54% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 MTFR1 9650 genome.wustl.edu 37 8 66620182 66620182 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_014637.3 +1 reviewed p.S290I 1.000 90 0% 104 36.5% 3 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL CSPP1 79848 genome.wustl.edu 37 8 68007897 68007897 + Nonsense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001077204.1 +1 validated p.E329* 1.000 45 0% 61 49.2% 1 0% - - - NULL C8orf34 116328 genome.wustl.edu 37 8 69633640 69633640 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_052958.1 +1 predicted p.E347K 0.997 393 0% 495 42.8% 0 - benign(0.097) tolerated(0.19) neutral(0.057) NULL SULF1 23213 genome.wustl.edu 37 8 70517113 70517113 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001128204.1 +1 validated p.V441 0.999 49 0% 71 42.3% 23 0% - - - superfamily_Alkaline_phosphatase_core TRPA1 8989 genome.wustl.edu 37 8 72948639 72948639 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_007332.2 -1 reviewed p.T813 0.668 75 0% 92 41.3% 0 - - - - HMMPfam_Ion_trans JPH1 56704 genome.wustl.edu 37 8 75227326 75227326 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_020647.2 -1 reviewed p.K303N 1.000 96 0% 135 43.7% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_MORN,HMMSmart_SM00698,superfamily_Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain ZFHX4 79776 genome.wustl.edu 37 8 77776581 77776581 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_024721.4 +1 validated p.S3499F 1.000 126 0% 166 51.8% 2 50% probably_damaging(0.998) - - NULL SLC7A13 157724 genome.wustl.edu 37 8 87242487 87242487 + Missense_Mutation SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_138817.2 -1 validated p.I7T 0.786 24 0% 23 34.8% 0 - benign(0.021) deleterious(0) neutral(0.446) NULL CPNE3 8895 genome.wustl.edu 37 8 87543409 87543409 + Silent SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_003909.3 +1 reviewed p.R113 1.000 134 0% 172 50% 2 0% - - - HMMSmart_C2,superfamily_C2_CaLB LRRC69 100130742 genome.wustl.edu 37 8 92147945 92147945 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001129890.1 +1 provisional p.I210S 0.026 95 0% 122 49.2% 0 - benign(0.019) tolerated(0.5) neutral(0.011) HMMPfam_LRR_1,superfamily_L domain-like TMEM67 91147 genome.wustl.edu 37 8 94815840 94815840 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_153704.5 +1 reviewed p.F750L 1.000 436 0% 634 41.8% 1 0% possibly_damaging(0.932) tolerated(0.22) neutral(0.420) HMMPfam_Meckelin CCNE2 9134 genome.wustl.edu 37 8 95905111 95905111 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_057749.1 -1 reviewed p.F84L 1.000 163 0% 237 45.1% 0 - benign(0.001) tolerated(0.73) neutral(0.002) NULL C8orf47 203111 genome.wustl.edu 37 8 99102024 99102024 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_173549.2 +1 validated p.R260I 0.000 66 0% 68 48.5% 0 - benign(0) tolerated(0.1) neutral(0.286) NULL ENSG00000228224 0 genome.wustl.edu 37 8 102381222 102381222 + Missense_Mutation SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000419462 +1 known p.S29P 1.000 114 0% 151 41.1% 1 0% - - - NULL UBR5 51366 genome.wustl.edu 37 8 103323706 103323706 + Nonsense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_015902.4 -1 reviewed p.R813* 1.000 74 1.4% 106 47.2% 0 - - - - NULL SYBU 55638 genome.wustl.edu 37 8 110587169 110587169 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001099744.1 -1 validated p.S653L 1.000 47 0% 46 47.8% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CSMD3 114788 genome.wustl.edu 37 8 113318320 113318320 + Nonsense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_198123.1 -1 validated p.R2663* 0.999 111 0% 145 54.5% 0 - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD3 114788 genome.wustl.edu 37 8 113694850 113694850 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_198123.1 -1 validated p.E833A 1.000 96 0% 155 47.1% 0 - unknown(0) tolerated(0.47) - superfamily_Spermadhesin CUB domain,superfamily_Complement control module/SCR domain CSMD3 114788 genome.wustl.edu 37 8 113871468 113871468 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_198123.1 -1 validated p.G554E 1.000 117 0% 165 48.5% 0 - unknown(0) tolerated(0.22) - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain DEPTOR 64798 genome.wustl.edu 37 8 121021281 121021281 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_022783.2 +1 validated p.A337V 1.000 132 0% 201 45.3% 65 46.1% benign(0.208) tolerated(0.21) neutral(0.064) superfamily_PDZ RNF139 11236 genome.wustl.edu 37 8 125499376 125499376 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_007218.3 +1 reviewed p.R496W 1.000 91 1.1% 113 37.2% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZNF572 137209 genome.wustl.edu 37 8 125989133 125989133 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_152412.2 +1 validated p.R208I 1.000 43 0% 49 44.9% 0 - probably_damaging(0.994) deleterious(0.02) deleterious(0.835) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 OC90 729330 genome.wustl.edu 37 8 133051289 133051289 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001080399.2 -1 validated p.S180Y 0.996 120 0% 147 44.9% 0 - probably_damaging(1) tolerated(0.05) deleterious(0.845) HMMPfam_Phospholip_A2_1,HMMSmart_SM00085,superfamily_Phospholipase A2 PLA2 TG 7038 genome.wustl.edu 37 8 134024252 134024252 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_003235.4 +1 reviewed p.F2123L 0.727 70 0% 73 43.8% 0 - benign(0.178) deleterious(0.04) neutral(0.365) NULL WISP1 8840 genome.wustl.edu 37 8 134239875 134239875 + Silent SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_003882.2 +1 reviewed p.C342 1.000 144 0% 125 48% 2 0% - - - HMMSmart_SM00041,PatternScan_CTCK_1,HMMPfam_Cys_knot FAM135B 51059 genome.wustl.edu 37 8 139144855 139144855 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_015912.3 -1 validated p.G1401E 1.000 99 0% 124 48.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SMARCA2 6595 genome.wustl.edu 37 9 2058342 2058342 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_003070.3 +1 reviewed p.R467W 1.000 131 0% 144 51.4% 0 - probably_damaging(0.982) deleterious(0) deleterious(0.871) HMMPfam_HSA,HMMSmart_SM00573 VLDLR 7436 genome.wustl.edu 37 9 2643728 2643728 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_003383.3 +1 reviewed p.S307 0.007 159 0% 176 41.5% 33 63.6% - - - HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,superfamily_LDL receptor-like module CDC37L1 55664 genome.wustl.edu 37 9 4684942 4684942 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_017913.2 +1 validated p.A66 0.760 151 0% 260 45.8% 7 57.1% - - - NULL RANBP6 26953 genome.wustl.edu 37 9 6013745 6013745 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_012416.2 -1 validated p.K621N 1.000 56 0% 76 51.3% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM-type_fold MPDZ 8777 genome.wustl.edu 37 9 13162788 13162788 + Silent SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000433359 -1 known p.L25V 0.805 222 0% 311 49.8% 2 100% - - - NULL KIAA1797 54914 genome.wustl.edu 37 9 20907219 20907219 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_017794.3 +1 validated p.R899Q 0.989 132 0% 180 44.4% 8 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM-type_fold ACO1 48 genome.wustl.edu 37 9 32425975 32425975 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002197.2 +1 reviewed p.P443L 1.000 79 0% 111 55% 30 16.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Aconitase,superfamily_Aconitase iron-sulfur domain,PatternScan_ACONITASE_1 SPINK4 27290 genome.wustl.edu 37 9 33245130 33245130 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_014471.1 +1 provisional p.K28Q 0.036 101 0% 95 37.9% 0 - probably_damaging(0.972) tolerated(0.08) deleterious(0.714) superfamily_SSF100895 ANKRD18B 441459 genome.wustl.edu 37 9 33548787 33548787 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 XM_001718334.2 +1 model p.L733F 0.023 101 0% 153 45.1% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL C9orf131 138724 genome.wustl.edu 37 9 35043213 35043213 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_203299.2 +1 validated p.F196C 1.000 81 0% 120 47.5% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL ZCCHC7 84186 genome.wustl.edu 37 9 37305547 37305547 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_032226.2 +1 validated p.R263C 0.983 189 0% 237 45.6% 9 55.5% probably_damaging(0.995) tolerated(0.05) deleterious(0.803) superfamily_Retrovirus zinc finger-like domains LOC100289454 100289454 genome.wustl.edu 37 9 44067721 44067721 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 XM_002342913.1 -1 model p.D35N 0.456 61 0% 78 43.6% 0 - - - - NULL MIR204 406987 genome.wustl.edu 37 9 73424988 73424988 + RNA SNP A A C rs112971695 TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000385200 -1 known NULL 1.000 73 0% 92 39.1% 0 - - - - - TRPM3 80036 genome.wustl.edu 37 9 73442876 73442876 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001007471.2 -1 reviewed p.S287N 1.000 186 0% 266 51.5% 0 - benign(0.004) tolerated(1) - NULL FAM75D1 389763 genome.wustl.edu 37 9 84604702 84604702 + Missense_Mutation SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001001670.2 +1 validated p.R66G 0.004 211 0.5% 278 46.8% 0 - probably_damaging(0.958) deleterious(0.03) deleterious(0.766) NULL CTSL1 1514 genome.wustl.edu 37 9 90343652 90343652 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001912.4 +1 reviewed p.M183I 1.000 179 0% 245 41.6% 12 16.6% benign(0.126) deleterious(0.01) neutral(0.416) HMMPfam_Peptidase_C1,HMMSmart_Pept_C1,superfamily_SSF54001 S1PR3 1903 genome.wustl.edu 37 9 91616326 91616326 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_005226.2 +1 reviewed p.H71N 1.000 14 0% 17 41.2% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 PTPDC1 138639 genome.wustl.edu 37 9 96860687 96860687 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_152422.3 +1 reviewed p.F611L 0.003 61 0% 88 42% 1 0% benign(0.008) deleterious(0.02) neutral(0.383) NULL ZNF782 158431 genome.wustl.edu 37 9 99581972 99581972 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001001662.1 -1 provisional p.L111F 0.110 125 0% 141 39% 0 - probably_damaging(0.989) deleterious(0.01) deleterious(0.845) NULL TDRD7 23424 genome.wustl.edu 37 9 100235779 100235779 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_014290.2 +1 validated p.D650 0.863 84 0% 117 46.2% 5 20% - - - HMMPfam_TUDOR TBC1D2 55357 genome.wustl.edu 37 9 100973032 100973032 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_018421.3 -1 validated p.E527K 0.043 15 0% 24 54.2% 11 27.2% benign(0) tolerated(0.79) neutral(0.001) NULL GALNT12 79695 genome.wustl.edu 37 9 101608364 101608364 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_024642.3 +1 validated p.E522K 0.000 50 0% 85 41.2% 12 16.6% benign(0) tolerated(0.42) neutral(0.014) HMMPfam_Ricin_B_lectin,HMMSmart_SM00458,superfamily_Ricin B-like lectins GRIN3A 116443 genome.wustl.edu 37 9 104390670 104390670 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_133445.2 -1 reviewed p.S789F 1.000 137 0% 182 45.1% 0 - probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_Lig_chan,HMMSmart_PBPe,superfamily_SSF53850 SMC2 10592 genome.wustl.edu 37 9 106864248 106864248 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001042550.1 +1 validated p.S215L 1.000 149 0% 182 43.4% 0 - benign(0.164) deleterious(0.02) neutral(0.398) HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases OR13C4 138804 genome.wustl.edu 37 9 107288680 107288680 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001001919.1 -1 provisional p.D271Y 0.000 114 0% 116 39.7% 0 - possibly_damaging(0.939) deleterious(0.01) deleterious(0.790) HMMPfam_7tm_1,superfamily_SSF81321 NIPSNAP3A 25934 genome.wustl.edu 37 9 107513294 107513294 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_015469.1 +1 provisional p.R40C 1.000 199 0% 241 39.8% 0 - probably_damaging(0.96) tolerated(0.08) deleterious(0.703) HMMPfam_NIPSNAP ABCA1 19 genome.wustl.edu 37 9 107555525 107555525 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_005502.2 -1 reviewed p.A1855T 1.000 95 0% 102 47.1% 0 - benign(0.344) tolerated(0.1) neutral(0.395) NULL ZNF483 158399 genome.wustl.edu 37 9 114304249 114304249 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_133464.2 +1 validated p.L345R 0.975 96 0% 99 48.5% 0 - probably_damaging(0.991) tolerated(0.12) deleterious(0.705) NULL C9orf43 257169 genome.wustl.edu 37 9 116185621 116185621 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_152786.1 +1 predicted p.L167M 0.000 100 0% 111 50.5% 1 0% possibly_damaging(0.926) deleterious(0) deleterious(0.819) NULL AKNA 80709 genome.wustl.edu 37 9 117103986 117103986 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000320310 -1 known p.R309Q 0.000 57 0% 65 47.7% 26 42.3% unknown(0) tolerated(0.33) - NULL ASTN2 23245 genome.wustl.edu 37 9 119583045 119583045 + Silent SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_198187.3 -1 reviewed p.K686 1.000 68 0% 70 45.7% 6 66.6% - - - superfamily_EGF/Laminin CDK5RAP2 55755 genome.wustl.edu 37 9 123177407 123177407 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_018249.4 -1 reviewed p.R1403Q 1.000 175 0% 210 40% 6 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CNTRL 11064 genome.wustl.edu 37 9 123904422 123904422 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_007018.4 +1 reviewed p.E915D 1.000 60 0% 129 50.4% 0 - probably_damaging(0.98) deleterious(0.01) deleterious(0.830) NULL SH2D3C 10044 genome.wustl.edu 37 9 130501088 130501088 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_170600.2 -1 validated p.F840 1.000 22 0% 30 40% 16 0% - - - HMMSmart_SM00147 SET 6418 genome.wustl.edu 37 9 131453465 131453465 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001122821.1 +1 validated p.E43D 1.000 133 0% 162 45.1% 76 55.2% possibly_damaging(0.694) tolerated(0.12) deleterious(0.510) HMMPfam_NAP PRRC2B 84726 genome.wustl.edu 37 9 134350648 134350648 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_013318.3 +1 validated p.M1044I 0.025 34 0% 30 50% 3 33.3% benign(0) tolerated(0.13) neutral(0.253) NULL PRRC2B 84726 genome.wustl.edu 37 9 134357826 134357826 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000451855 +1 known p.D417N 0.557 39 0% 52 51.9% 13 46.1% - - - NULL SETX 23064 genome.wustl.edu 37 9 135203500 135203500 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_015046.5 -1 reviewed p.R1162I 0.957 131 0% 135 44.4% 0 - benign(0.312) deleterious(0) deleterious(0.542) NULL SNORD36C 26813 genome.wustl.edu 37 9 136217719 136217719 + RNA SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NR_000016.1 +1 validated NULL 1.000 46 0% 33 48.5% 2 50% - - - - ADAMTS13 11093 genome.wustl.edu 37 9 136324231 136324231 + Missense_Mutation SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_139025.3 +1 reviewed p.Y1405H 0.981 24 0% 19 47.4% 18 44.4% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Spermadhesin CUB domain INPP5E 56623 genome.wustl.edu 37 9 139324228 139324228 + Nonsense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_019892.3 -1 reviewed p.E612* 0.960 93 0% 99 39.4% 5 20% - - - superfamily_DNase I-like SEC16A 9919 genome.wustl.edu 37 9 139368836 139368836 + Missense_Mutation SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_014866.1 -1 validated p.F1078L 0.000 14 0% 18 44.4% 14 28.5% possibly_damaging(0.737) tolerated(0.26) neutral(0.303) NULL NELF 26012 genome.wustl.edu 37 9 140351895 140351895 + Missense_Mutation SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001130969.1 -1 reviewed p.K198E 1.000 11 0.000 8 0.625 275 54.5% benign(0.315) deleterious(0.01) deleterious(0.504) NULL CACNA1B 774 genome.wustl.edu 37 9 141016070 141016070 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000718.2 +1 validated p.F2213 0.042 46 0% 38 47.4% 0 - - - - NULL ZMYND11 10771 genome.wustl.edu 37 10 288047 288047 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_006624.4 +1 reviewed p.V266 0.993 182 0% 225 43.6% 16 68.7% - - - HMMPfam_PWWP,HMMSmart_PWWP,superfamily_SSF63748 ITIH2 3698 genome.wustl.edu 37 10 7762890 7762890 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002216.2 +1 validated p.F234 0.989 88 0% 110 41.8% 0 - - - - NULL OPTN 10133 genome.wustl.edu 37 10 13160971 13160971 + Missense_Mutation SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001008211.1 +1 reviewed p.L237P 1.000 88 0% 143 49.7% 5 60% probably_damaging(0.995) tolerated(0.07) deleterious(0.776) NULL ITGA8 8516 genome.wustl.edu 37 10 15634241 15634241 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_003638.1 -1 provisional p.F758 1.000 231 0% 285 44.6% 0 - - - - HMMPfam_Integrin_alpha2,superfamily_SSF69179 KIAA1217 56243 genome.wustl.edu 37 10 24832671 24832671 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_019590.3 +1 validated p.S1491Y 0.005 67 0% 82 63.4% 15 60% possibly_damaging(0.509) tolerated(0.05) deleterious(0.516) NULL PDSS1 23590 genome.wustl.edu 37 10 27024210 27024210 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_014317.3 +1 reviewed p.I291 0.296 234 0% 352 44.9% 11 27.2% - - - HMMPfam_polyprenyl_synt,superfamily_Terpenoid synthases ANKRD26 22852 genome.wustl.edu 37 10 27335393 27335393 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_014915.2 -1 validated p.S625L 0.000 231 0% 371 44.7% 0 - possibly_damaging(0.564) tolerated(0.21) neutral(0.236) NULL ARMC4 55130 genome.wustl.edu 37 10 28229609 28229609 + Silent SNP C C T rs189617150 by1000genomes TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_018076.2 -1 validated p.T623 0.000 58 0% 71 50.7% 1 0% - - - HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat ARMC4 55130 genome.wustl.edu 37 10 28274124 28274124 + Silent SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_018076.2 -1 validated p.I133 0.210 93 0% 121 48.8% 0 - - - - NULL SVIL 6840 genome.wustl.edu 37 10 29788177 29788177 + Nonsense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_021738.2 -1 reviewed p.R1178* 0.003 91 0% 104 38.5% 6 16.6% - - - NULL MTPAP 55149 genome.wustl.edu 37 10 30630462 30630462 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_018109.3 -1 validated p.N89H 1.000 152 0% 184 46.7% 1 100% benign(0.163) deleterious(0.02) neutral(0.398) NULL ZNF438 220929 genome.wustl.edu 37 10 31137752 31137752 + Missense_Mutation SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001143766.1 -1 validated p.T528A 0.987 91 0% 124 43.5% 23 43.4% benign(0.228) deleterious(0) neutral(0.467) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers PARD3 56288 genome.wustl.edu 37 10 34626240 34626240 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_019619.3 -1 validated p.F844 1.000 233 0% 266 50.4% 3 33.3% - - - NULL HNRNPF 3185 genome.wustl.edu 37 10 43882987 43882987 + Nonsense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001098204.1 -1 reviewed p.R116* 1.000 109 0% 145 12.4% 475 1.2% - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD ZNF485 220992 genome.wustl.edu 37 10 44112612 44112612 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_145312.3 +1 validated p.R374I 0.999 105 0% 141 46.8% 0 - benign(0.195) tolerated(0.05) neutral(0.364) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 FAM21C 253725 genome.wustl.edu 37 10 46280320 46280320 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_015262.2 +1 validated p.L885I 1.000 551 0.2% 725 30.8% 0 - possibly_damaging(0.932) deleterious(0) deleterious(0.823) NULL PPYR1 5540 genome.wustl.edu 37 10 47086873 47086873 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_005972.4 +1 validated p.F30L 0.985 151 0% 197 22.3% 0 - benign(0.001) tolerated(0.34) neutral(0.023) superfamily_Family A G protein-coupled receptor-like FRMPD2 143162 genome.wustl.edu 37 10 49393669 49393669 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001018071.3 -1 reviewed p.R762S 0.000 176 0% 209 38.8% 0 - probably_damaging(0.959) deleterious(0.04) deleterious(0.752) NULL ERCC6 2074 genome.wustl.edu 37 10 50678344 50678344 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000124.2 -1 reviewed p.R1221Q 0.998 345 0% 464 46.8% 1 100% probably_damaging(0.992) tolerated(0.06) deleterious(0.770) NULL ANK3 288 genome.wustl.edu 37 10 61832027 61832027 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_020987.2 -1 reviewed p.S2871L 0.997 72 0% 94 50% 0 - benign(0.195) - - NULL EIF4EBP2 1979 genome.wustl.edu 37 10 72179676 72179676 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_004096.4 +1 reviewed p.R51Q 1.000 132 0% 166 36.7% 36 50% benign(0.116) deleterious(0) neutral(0.454) HMMPfam_eIF_4EBP PRF1 5551 genome.wustl.edu 37 10 72358087 72358087 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001083116.1 -1 reviewed p.R464W 0.000 41 0% 33 36.4% 0 - benign(0.045) deleterious(0.02) neutral(0.386) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) C10orf105 414152 genome.wustl.edu 37 10 73475974 73475974 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000441508 -1 known p.A41T 0.905 38 0% 34 38.2% 0 - probably_damaging(0.965) - - NULL PLAU 5328 genome.wustl.edu 37 10 75672052 75672052 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002658.3 +1 reviewed p.K55 1.000 61 0% 83 44.6% 7 14.2% - - - PatternScan_EGF_1,superfamily_Kringle-like FAM213A 84293 genome.wustl.edu 37 10 82187096 82187096 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_032333.4 +1 validated p.F140L 0.986 102 0% 189 41.8% 24 62.5% possibly_damaging(0.89) deleterious(0) deleterious(0.794) NULL PTEN 5728 genome.wustl.edu 37 10 89692775 89692775 + Nonsense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000371953 +1 known p.Q87* 1.000 249 0.4% 285 41.8% 5 60% - - - HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II PTEN 5728 genome.wustl.edu 37 10 89692905 89692905 + Missense_Mutation SNP G G A rs121913292 TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000371953 +1 known p.R130Q 1.000 180 0% 245 47.3% 5 60% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DSPc,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II PTEN 5728 genome.wustl.edu 37 10 89692947 89692947 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000371953 +1 known p.K144T 1.000 141 0% 168 43.5% 4 50% benign(0.002) tolerated(0.4) neutral(0.016) HMMPfam_DSPc,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II LIPF 8513 genome.wustl.edu 37 10 90429648 90429648 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_004190.2 +1 reviewed p.K159N 0.867 142 0% 206 41.7% 0 - benign(0.001) tolerated(0.94) - HMMPfam_Abhydrolase_1,superfamily_alpha/beta-Hydrolases LIPA 3988 genome.wustl.edu 37 10 91007373 91007373 + Silent SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000235.2 -1 reviewed p.C11 0.002 180 0% 271 47.6% 0 - - - - NULL IFIT2 3433 genome.wustl.edu 37 10 91066223 91066223 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001547.4 +1 validated p.K170N 0.013 34 0% 60 48.3% 0 - probably_damaging(0.999) tolerated(0.36) deleterious(0.510) HMMPfam_TPR_1,superfamily_SSF48452 IFIT1B 439996 genome.wustl.edu 37 10 91144053 91144053 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001010987.2 +1 validated p.K328T 0.034 45 0% 37 37.8% 0 - benign(0.05) deleterious(0.03) neutral(0.367) superfamily_TPR-like CYP26A1 1592 genome.wustl.edu 37 10 94834926 94834926 + Silent SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000783.3 +1 reviewed p.L242 1.000 12 0% 14 50% 0 - - - - HMMPfam_p450,superfamily_Cytochrome_P450 CYP26A1 1592 genome.wustl.edu 37 10 94836395 94836395 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000783.3 +1 reviewed p.R365Q 0.994 149 0% 240 44.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_p450,superfamily_Cytochrome_P450 CYP26A1 1592 genome.wustl.edu 37 10 94836903 94836903 + Nonsense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000783.3 +1 reviewed p.E446* 1.000 60 0% 77 61% 0 - - - - HMMPfam_p450,superfamily_Cytochrome_P450 MYOF 26509 genome.wustl.edu 37 10 95161286 95161286 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_013451.3 -1 reviewed p.R336C 0.001 119 0% 149 38.3% 0 - benign(0.019) tolerated(0.06) neutral(0.324) HMMPfam_FerI PLCE1 51196 genome.wustl.edu 37 10 96068341 96068341 + Missense_Mutation SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_016341.3 +1 reviewed p.Y1963C 1.000 101 0% 127 42.5% 3 33.3% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) HELLS 3070 genome.wustl.edu 37 10 96322454 96322454 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_018063.3 +1 reviewed p.N114H 0.988 174 0% 213 43.7% 0 - possibly_damaging(0.654) tolerated(0.09) deleterious(0.526) NULL ABCC2 1244 genome.wustl.edu 37 10 101605438 101605438 + Missense_Mutation SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000392.3 +1 reviewed p.R1349G 1.000 96 0% 122 49.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases SEC31B 25956 genome.wustl.edu 37 10 102249808 102249808 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_015490.3 -1 reviewed p.C974 0.001 45 0% 40 40% 1 100% - - - NULL NFKB2 4791 genome.wustl.edu 37 10 104157319 104157319 + Nonsense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001077494.1 +1 validated p.E180* 1.000 45 0% 65 35.4% 5 0% - - - superfamily_p53-like transcription factors,HMMPfam_RHD MIR1307 100302174 genome.wustl.edu 37 10 105154065 105154065 + RNA SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000408840 -1 known NULL 0.138 96 0% 103 50.5% 4 100% - - - - DCLRE1A 9937 genome.wustl.edu 37 10 115596905 115596905 + Nonsense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_014881.3 -1 provisional p.R960* 1.000 295 0% 443 47.2% 2 50% - - - HMMPfam_DRMBL TDRD1 56165 genome.wustl.edu 37 10 115962020 115962020 + Nonsense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_198795.1 +1 reviewed p.S220* 0.980 319 0% 477 44.7% 0 - - - - NULL GFRA1 2674 genome.wustl.edu 37 10 117884785 117884785 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_005264.4 -1 reviewed p.E239D 1.000 22 0% 45 51.1% 5 0% benign(0.001) tolerated(0.25) neutral(0.037) superfamily_GDNF receptor-like (Pfam 02351) GFRA1 2674 genome.wustl.edu 37 10 118029035 118029035 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_005264.4 -1 reviewed p.R133Q 1.000 195 0% 317 45.1% 8 100% probably_damaging(0.988) deleterious(0.01) deleterious(0.843) NULL KIAA1598 57698 genome.wustl.edu 37 10 118671344 118671344 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001127211.1 -1 validated p.S439L 0.918 161 0.6% 219 41.6% 0 - benign(0) tolerated(0.3) neutral(0.029) NULL KCNK18 338567 genome.wustl.edu 37 10 118969585 118969585 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_181840.1 +1 provisional p.F310 0.293 295 0% 401 45.9% 0 - - - - HMMPfam_Ion_trans_2,superfamily_SSF81324 SEC23IP 11196 genome.wustl.edu 37 10 121658165 121658165 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_007190.2 +1 reviewed p.S130 0.000 81 0% 123 39% 8 25% - - - NULL WDR11 55717 genome.wustl.edu 37 10 122630798 122630798 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_018117.11 +1 reviewed p.R471C 0.990 88 0% 79 55.7% 24 58.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_WD40_like TACC2 10579 genome.wustl.edu 37 10 123843045 123843045 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_206862.2 +1 reviewed p.A344T 0.000 17 0.000 9 0.556 0 - benign(0) deleterious(0.02) neutral(0.383) NULL PLEKHA1 59338 genome.wustl.edu 37 10 124189401 124189401 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001001974.1 +1 validated p.D388Y 0.169 67 0% 112 19.6% 19 5.2% possibly_damaging(0.805) deleterious(0.04) deleterious(0.652) NULL C10orf90 118611 genome.wustl.edu 37 10 128153290 128153290 + Silent SNP A A T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001004298.2 -1 validated p.V503 0.002 44 0% 49 40.8% 0 - - - - NULL DOCK1 1793 genome.wustl.edu 37 10 128908585 128908585 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000398025 +1 known p.E843K 1.000 107 0% 126 47.6% 36 38.8% benign(0.001) tolerated(0.31) neutral(0.027) NULL MKI67 4288 genome.wustl.edu 37 10 129899886 129899886 + Missense_Mutation SNP C C A rs192859477 by1000genomes TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002417.4 -1 reviewed p.R3114I 0.007 191 0% 274 50.4% 2 50% possibly_damaging(0.85) deleterious(0.02) deleterious(0.710) NULL TCERG1L 256536 genome.wustl.edu 37 10 133058637 133058637 + Silent SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_174937.3 -1 validated p.A247 0.262 24 0% 14 57.1% 0 - - - - NULL PAOX 196743 genome.wustl.edu 37 10 135197561 135197561 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_152911.2 +1 validated p.K322N 0.995 53 1.9% 93 50.5% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Amino_oxidase,superfamily_FAD/NAD(P)-binding domain,superfamily_FAD-linked reductases C-terminal domain MUC2 4583 genome.wustl.edu 37 11 1102462 1102462 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002457.2 +1 reviewed p.E2612K 0.011 49 0% 38 34.2% 0 - unknown(0) - - HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1 MUC5B 727897 genome.wustl.edu 37 11 1264527 1264527 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002458.1 +1 validated p.T2142 0.003 329 0% 311 42.8% 137 16% - - - NULL LOC338651 338651 genome.wustl.edu 37 11 1618876 1618876 + RNA SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NR_021489.1 +1 validated NULL 0.003 37 0% 27 48.1% 3 66.6% - - - - KRTAP5-5 439915 genome.wustl.edu 37 11 1651699 1651699 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001001480.2 +1 validated p.S210L 0.000 71 0% 57 36.8% 0 - unknown(0) tolerated(0.27) - NULL OR51G1 79324 genome.wustl.edu 37 11 4945476 4945476 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001005237.1 -1 provisional p.P32T 0.949 60 1.7% 68 39.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_SSF81321 OR52D1 390066 genome.wustl.edu 37 11 5510013 5510013 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001005163.2 +1 validated p.A26V 0.000 117 0% 146 58.2% 0 - benign(0) tolerated(0.74) neutral(0.002) superfamily_Family A G protein-coupled receptor-like OR56A4 120793 genome.wustl.edu 37 11 6023301 6023301 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001005179.2 -1 provisional p.N360H 0.041 176 0% 231 52.4% 0 - benign(0.008) tolerated(0.07) neutral(0.319) superfamily_SSF81321 TPP1 1200 genome.wustl.edu 37 11 6638988 6638988 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000391.3 -1 reviewed p.E83D 1.000 125 0% 136 36% 35 28.5% - - - superfamily_Protease propeptides/inhibitors,HMMPfam_Pro-kuma_activ OLFML1 283298 genome.wustl.edu 37 11 7509565 7509565 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_198474.3 +1 validated p.E113K 0.566 75 0% 79 49.4% 1 0% possibly_damaging(0.946) tolerated(0.1) deleterious(0.676) NULL USP47 55031 genome.wustl.edu 37 11 11941986 11941986 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_017944.3 +1 validated p.R320Q 1.000 219 0% 274 46.4% 3 33.3% possibly_damaging(0.791) deleterious(0.02) deleterious(0.679) HMMPfam_UCH,superfamily_Cysteine proteinases SPON1 10418 genome.wustl.edu 37 11 14284295 14284295 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_006108.2 +1 validated p.R678Q 0.282 55 0% 49 46.9% 15 6.6% unknown(0) - - NULL PIK3C2A 5286 genome.wustl.edu 37 11 17190949 17190949 + Missense_Mutation SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002645.2 -1 validated p.T114A 0.984 124 0% 165 42.4% 2 100% benign(0) tolerated(0.32) neutral(0.024) NULL TPH1 7166 genome.wustl.edu 37 11 18042681 18042681 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_004179.2 -1 reviewed p.G398R 1.000 214 0% 327 47.4% 38 47.3% benign(0.404) tolerated(0.21) neutral(0.174) HMMPfam_Biopterin_H,superfamily_Aromatic aminoacid monoxygenases catalytic and oligomerization domains MRGPRX4 117196 genome.wustl.edu 37 11 18195162 18195162 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_054032.3 +1 validated p.R120H 1.000 149 0% 235 49.4% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like DCDC1 341019 genome.wustl.edu 37 11 31312208 31312208 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_181807.2 -1 validated p.E316K 1.000 210 0% 241 42.3% 0 - possibly_damaging(0.792) tolerated(0.08) deleterious(0.597) superfamily_SSF89837 IMMP1L 196294 genome.wustl.edu 37 11 31455020 31455020 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_144981.1 -1 provisional p.R140Q 1.000 144 0% 144 36.8% 4 50% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_Pept_S24_S26_C RCN1 5954 genome.wustl.edu 37 11 32118836 32118836 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002901.2 +1 reviewed p.K134T 0.990 136 0% 157 44.6% 26 65.3% benign(0.049) tolerated(0.56) neutral(0.009) HMMSmart_EFh,PatternScan_EF_HAND_1,superfamily_SSF47473 QSER1 79832 genome.wustl.edu 37 11 32954371 32954371 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001076786.1 +1 provisional p.Y394D 1.000 71 0% 101 48.5% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL SLC1A2 6506 genome.wustl.edu 37 11 35308434 35308434 + Missense_Mutation SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_004171.3 -1 reviewed p.T386A 1.000 110 0% 159 39% 0 - probably_damaging(1) tolerated(0.21) deleterious(0.544) HMMPfam_SDF EXT2 2132 genome.wustl.edu 37 11 44257894 44257894 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000401.3 +1 reviewed p.L676I 1.000 80 0% 125 45.6% 112 45.5% possibly_damaging(0.614) tolerated(0.06) deleterious(0.535) HMMPfam_Glyco_transf_64,superfamily_Nucleotide-diphospho-sugar transferases TSPAN18 90139 genome.wustl.edu 37 11 44940779 44940779 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_130783.4 +1 validated p.F116L 1.000 116 0% 122 46.7% 1 0% benign(0) tolerated(0.5) neutral(0.010) superfamily_Tetraspanin,HMMPfam_Tetraspannin CKAP5 9793 genome.wustl.edu 37 11 46785056 46785056 + Missense_Mutation SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001008938.1 -1 validated p.N1221S 1.000 128 0% 165 44.2% 7 42.8% benign(0.122) deleterious(0.01) neutral(0.416) superfamily_ARM repeat LRP4 4038 genome.wustl.edu 37 11 46900811 46900811 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002334.3 -1 reviewed p.R957H 1.000 27 0% 28 64.3% 43 46.5% benign(0.159) tolerated(0.22) neutral(0.056) HMMPfam_Ldl_recept_b,HMMSmart_SM00135,superfamily_YWTD domain DDB2 1643 genome.wustl.edu 37 11 47256905 47256905 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000107.2 +1 reviewed p.C322F 0.016 37 0% 49 42.9% 126 45.2% benign(0.04) tolerated(0.06) neutral(0.325) superfamily_WD40 repeat-like PTPRJ 5795 genome.wustl.edu 37 11 48181596 48181596 + Missense_Mutation SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002843.3 +1 reviewed p.K1185E 1.000 69 0% 98 45.9% 8 37.5% benign(0.397) tolerated(0.54) neutral(0.135) HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799 OR5AS1 219447 genome.wustl.edu 37 11 55798814 55798814 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001001921.1 +1 provisional p.R307K 0.001 104 0% 128 45.3% 0 - benign(0) tolerated(1) - superfamily_SSF81321 OR9G4 283189 genome.wustl.edu 37 11 56510348 56510348 + Nonsense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001005284.1 -1 provisional p.E314* 0.785 295 0% 474 43.9% 0 - - - - superfamily_SSF81321 OR5AK3P 81228 genome.wustl.edu 37 11 56738807 56738807 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000326876 +1 known p.R95W 0.000 64 0% 85 48.2% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 SLC43A3 29015 genome.wustl.edu 37 11 57193520 57193520 + Nonsense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_014096.2 -1 validated p.Y42* 1.000 41 0% 40 45% 11 18.1% - - - NULL MED19 219541 genome.wustl.edu 37 11 57472676 57472676 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_153450.1 -1 provisional p.T81 1.000 77 0% 116 39.7% 25 32% - - - HMMPfam_Med19 OR10W1 81341 genome.wustl.edu 37 11 58034737 58034737 + Silent SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_207374.3 -1 validated p.I198 0.001 56 0% 76 34.2% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR5A1 219982 genome.wustl.edu 37 11 59210965 59210965 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001004728.1 +1 provisional p.V108 0.000 109 0% 133 42.9% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 MS4A14 84689 genome.wustl.edu 37 11 60184235 60184235 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_032597.3 +1 validated p.K598N 0.000 52 0% 73 39.7% 0 - benign(0.053) tolerated(1) neutral(0.004) NULL MS4A14 84689 genome.wustl.edu 37 11 60184283 60184283 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_032597.3 +1 validated p.K614N 0.001 49 0% 82 36.6% 0 - benign(0.224) tolerated(0.42) neutral(0.036) NULL AHNAK 79026 genome.wustl.edu 37 11 62287257 62287257 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001620.1 -1 validated p.L4878V 0.002 99 0% 142 42.3% 2 0% benign(0.196) tolerated(0.29) neutral(0.048) NULL STX5 6811 genome.wustl.edu 37 11 62575006 62575006 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_003164.3 -1 validated p.L335F 1.000 179 0.6% 231 51.5% 100 53% probably_damaging(1) deleterious(0) deleterious(0.945) NULL NRXN2 9379 genome.wustl.edu 37 11 64402838 64402838 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_015080.2 -1 reviewed p.R1164C 1.000 10 0% 17 47.1% 11 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases NRXN2 9379 genome.wustl.edu 37 11 64453131 64453131 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_015080.2 -1 reviewed p.R380Q 1.000 47 2.1% 51 62.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 CLPB 81570 genome.wustl.edu 37 11 72114073 72114073 + Missense_Mutation SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_030813.3 -1 provisional p.V160A 1.000 82 0% 101 49.5% 7 42.8% possibly_damaging(0.695) tolerated(0.37) neutral(0.268) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat PGM2L1 283209 genome.wustl.edu 37 11 74056590 74056590 + Missense_Mutation SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_173582.3 -1 validated p.N381S 0.673 260 0% 329 44.4% 1 100% benign(0.003) tolerated(0.11) neutral(0.272) superfamily_Phosphoglucomutase first 3 domains XRRA1 143570 genome.wustl.edu 37 11 74651894 74651894 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_182969.1 -1 validated p.D10E 0.995 42 0% 50 38% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL RSF1 51773 genome.wustl.edu 37 11 77451804 77451804 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_016578.3 -1 validated p.D184Y 1.000 136 0% 208 40.4% 8 12.5% possibly_damaging(0.761) tolerated(0.11) deleterious(0.553) NULL ODZ4 26011 genome.wustl.edu 37 11 78369199 78369199 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001098816.2 -1 validated p.D2738 0.042 62 0% 46 52.2% 4 25% - - - NULL DLG2 1740 genome.wustl.edu 37 11 84245768 84245768 + Nonsense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001142699.1 -1 reviewed p.R122* 1.000 134 0% 187 35.3% 0 - - - - HMMPfam_MAGUK_N_PEST CCDC83 220047 genome.wustl.edu 37 11 85630543 85630543 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_173556.3 +1 provisional p.S442Y 0.985 109 0% 148 47.3% 0 - possibly_damaging(0.946) deleterious(0.01) deleterious(0.796) NULL FAT3 120114 genome.wustl.edu 37 11 92534954 92534954 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001008781.2 +1 validated p.A2925 0.994 33 0% 31 54.8% 0 - - - - superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like CCDC67 159989 genome.wustl.edu 37 11 93129471 93129471 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_181645.3 +1 validated p.L436V 0.998 133 0% 179 41.3% 0 - benign(0.01) tolerated(0.26) neutral(0.035) NULL MED17 9440 genome.wustl.edu 37 11 93545171 93545171 + Nonsense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_004268.4 +1 reviewed p.R633* 1.000 227 0% 341 41.3% 5 0% - - - HMMPfam_DUF2364 HEPHL1 341208 genome.wustl.edu 37 11 93778987 93778987 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001098672.1 +1 validated p.E107K 1.000 107 0% 149 41.6% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) superfamily_Cupredoxin,HMMPfam_Cu-oxidase_3 CCDC82 79780 genome.wustl.edu 37 11 96116456 96116456 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_024725.3 -1 validated p.K323T 1.000 317 0% 439 45.1% 0 - benign(0.344) tolerated(0.08) neutral(0.408) NULL MMP27 64066 genome.wustl.edu 37 11 102567552 102567552 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_022122.2 -1 reviewed p.L212I 1.000 155 0% 201 44.8% 0 - benign(0.319) tolerated(0.07) neutral(0.418) "HMMPfam_Peptidase_M10,HMMSmart_SM00235,superfamily_Metalloproteases (""zincins"") catalytic domain" MMP27 64066 genome.wustl.edu 37 11 102576439 102576439 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_022122.2 -1 reviewed p.R3C 0.080 121 0% 135 34.1% 0 - benign(0.004) tolerated(0.2) neutral(0.049) NULL DYNC2H1 79659 genome.wustl.edu 37 11 103029661 103029661 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001080463.1 +1 reviewed p.R1428I 1.000 112 0% 133 47.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DHC_N2 DYNC2H1 79659 genome.wustl.edu 37 11 103151095 103151095 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001080463.1 +1 reviewed p.A3579T 1.000 259 0% 205 63.4% 1 100% probably_damaging(0.994) deleterious(0.02) deleterious(0.835) NULL DYNC2H1 79659 genome.wustl.edu 37 11 103194654 103194654 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001080463.1 +1 reviewed p.K3999T 1.000 137 0% 148 45.9% 6 66.6% benign(0) tolerated(0.69) neutral(0.002) HMMPfam_Dynein_heavy CASP4 837 genome.wustl.edu 37 11 104825573 104825573 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001225.3 -1 reviewed p.R55W 0.000 328 0% 381 44.6% 4 25% benign(0.245) tolerated(0.13) neutral(0.278) HMMPfam_CARD,HMMSmart_SM00114,superfamily_DEATH domain CASP5 838 genome.wustl.edu 37 11 104866559 104866559 + Nonsense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001136112.1 -1 reviewed p.S419* 0.821 254 0% 326 42% 0 - - - - HMMPfam_Peptidase_C14,HMMSmart_SM00115,superfamily_Caspase-like ATM 472 genome.wustl.edu 37 11 108205739 108205739 + Nonsense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000051.3 +1 reviewed p.S2685* 1.000 172 0.6% 207 42.5% 1 0% - - - superfamily_Protein kinase-like (PK-like),superfamily_ARM repeat RDX 5962 genome.wustl.edu 37 11 110118502 110118502 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002906.3 -1 reviewed p.R339I 1.000 548 0% 777 43.4% 1 0% benign(0.093) deleterious(0.02) neutral(0.390) HMMPfam_ERM,superfamily_PH domain-like C11orf88 399949 genome.wustl.edu 37 11 111404492 111404492 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_207430.2 +1 validated p.L148I 1.000 131 0% 177 37.9% 2 100% benign(0.024) tolerated(0.54) neutral(0.009) NULL ENSG00000214264 0 genome.wustl.edu 37 11 112053875 112053875 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000397969 +1 known p.E139D 1.000 169 0% 197 38.6% 0 - - - - HMMPfam_Pentapeptide C11orf34 349633 genome.wustl.edu 37 11 112119612 112119612 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001145024.1 -1 provisional p.L178 0.010 100 0% 141 39.7% 0 - - - - NULL NNMT 4837 genome.wustl.edu 37 11 114182997 114182997 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_006169.2 +1 reviewed p.A198V 0.083 37 0% 38 47.4% 384 34.6% benign(0.009) deleterious(0) neutral(0.445) HMMPfam_NNMT_PNMT_TEMT,superfamily_S-adenosyl-L-methionine-dependent methyltransferases DSCAML1 57453 genome.wustl.edu 37 11 117306492 117306492 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_020693.2 -1 provisional p.A1642S 1.000 63 0% 84 39.3% 0 - benign(0.001) tolerated(0.63) neutral(0.004) NULL TRIM29 23650 genome.wustl.edu 37 11 119998185 119998185 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_012101.3 -1 reviewed p.A331 0.106 65 0% 64 48.4% 1 0% - - - NULL MIR100 406892 genome.wustl.edu 37 11 122022940 122022940 + RNA SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000385259 -1 known NULL 0.380 140 0% 133 42.9% 0 - - - - - OR10S1 219873 genome.wustl.edu 37 11 123847934 123847934 + Silent SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001004474.1 -1 provisional p.C155 0.001 68 0% 51 45.1% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PANX3 116337 genome.wustl.edu 37 11 124489504 124489504 + Silent SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_052959.2 +1 reviewed p.V284 0.505 85 0% 151 41.1% 0 - - - - NULL SRPR 6734 genome.wustl.edu 37 11 126134095 126134095 + Silent SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_003139.3 -1 reviewed p.I593 1.000 43 0% 55 45.5% 317 44.7% - - - HMMPfam_SRP54,superfamily_SSF52540 ENSG00000118976 0 genome.wustl.edu 37 12 3949559 3949559 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000237841 +1 known p.K364N 0.001 309 0% 317 45.7% 0 - - - - NULL GDF3 9573 genome.wustl.edu 37 12 7842975 7842975 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_020634.1 -1 reviewed p.F198 0.000 48 0% 50 50% 0 - - - - NULL CLEC6A 93978 genome.wustl.edu 37 12 8629918 8629918 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001007033.1 +1 provisional p.F163C 0.746 168 0% 290 43.4% 0 - probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_Lectin_C,HMMSmart_CLECT,superfamily_C-type_lectin_fold PZP 5858 genome.wustl.edu 37 12 9318693 9318693 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002864.2 -1 validated p.R738Q 0.058 129 0% 195 46.7% 0 - probably_damaging(0.999) tolerated(0.39) deleterious(0.506) NULL PZP 5858 genome.wustl.edu 37 12 9333638 9333638 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002864.2 -1 validated p.R594C 0.096 33 0% 50 46% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_A2M_N_2 CSDA 8531 genome.wustl.edu 37 12 10865863 10865863 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_003651.4 -1 validated p.R174W 1.000 23 0% 22 40.9% 262 45% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL ATF7IP 55729 genome.wustl.edu 37 12 14613980 14613980 + Nonsense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_018179.3 +1 validated p.R904* 0.992 69 0% 86 53.5% 1 100% - - - NULL ATF7IP 55729 genome.wustl.edu 37 12 14649176 14649176 + Nonsense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_018179.3 +1 validated p.R1098* 0.997 74 1.4% 67 35.8% 21 61.9% - - - NULL PIK3C2G 5288 genome.wustl.edu 37 12 18699323 18699323 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_004570.4 +1 reviewed p.R1142C 1.000 183 0% 242 44.6% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00146,superfamily_Protein kinase-like (PK-like) PYROXD1 79912 genome.wustl.edu 37 12 21621560 21621560 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_024854.3 +1 validated p.A459T 1.000 110 0% 144 47.2% 1 100% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL GYS2 2998 genome.wustl.edu 37 12 21716167 21716167 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_021957.3 -1 reviewed p.F312L 0.998 133 0% 178 43.3% 0 - probably_damaging(0.982) tolerated(0.11) deleterious(0.698) HMMPfam_Glycogen_syn,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase GYS2 2998 genome.wustl.edu 37 12 21721829 21721829 + Nonsense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_021957.3 -1 reviewed p.E265* 1.000 148 0% 210 46.7% 0 - - - - HMMPfam_Glycogen_syn,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase ABCC9 10060 genome.wustl.edu 37 12 22063212 22063212 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_005691.2 -1 reviewed p.T400M 1.000 113 0.9% 128 46.1% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain KRAS 3845 genome.wustl.edu 37 12 25368454 25368454 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_033360.2 -1 reviewed p.R164Q 1.000 423 0% 506 40.9% 0 - probably_damaging(0.969) deleterious(0) deleterious(0.856) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases FGFR1OP2 26127 genome.wustl.edu 37 12 27116348 27116348 + Missense_Mutation SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_015633.2 +1 validated p.Q195R 0.867 75 0% 129 49.6% 4 25% benign(0) deleterious(0.02) neutral(0.383) HMMPfam_DUF837 MRPS35 60488 genome.wustl.edu 37 12 27908161 27908161 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_021821.2 +1 reviewed p.E250D 1.000 117 0% 155 49.7% 9 33.3% probably_damaging(0.98) tolerated(0.22) neutral(0.466) HMMPfam_MRP-S28 CAPRIN2 65981 genome.wustl.edu 37 12 30884441 30884441 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001002259.1 -1 validated p.K299T 1.000 223 0% 339 41.3% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL OVOS2 144203 genome.wustl.edu 37 12 31283496 31283496 + Missense_Mutation SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 XM_002343151.1 -1 model p.N1007S 0.952 159 0% 238 36.6% 0 - - - - superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_A2M_comp SYT10 341359 genome.wustl.edu 37 12 33560206 33560206 + Nonsense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_198992.2 -1 provisional p.R199* 1.000 251 0% 367 45.8% 0 - - - - NULL LRRK2 120892 genome.wustl.edu 37 12 40699613 40699613 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_198578.3 +1 reviewed p.E1268D 0.997 192 0% 213 38.5% 0 - benign(0.054) tolerated(0.1) neutral(0.290) superfamily_SSF52058 CNTN1 1272 genome.wustl.edu 37 12 41318361 41318361 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001843.2 +1 reviewed p.L135I 1.000 92 0% 153 54.2% 2 0% probably_damaging(1) tolerated(0.11) deleterious(0.772) superfamily_Immunoglobulin ADAMTS20 80070 genome.wustl.edu 37 12 43750332 43750332 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_025003.3 -1 validated p.W1866C 1.000 170 0% 236 51.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GON SLC48A1 55652 genome.wustl.edu 37 12 48174331 48174331 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000390229 +1 known p.S108Y 0.157 60 0% 46 37% 0 - - - - NULL COL2A1 1280 genome.wustl.edu 37 12 48393747 48393747 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001844.4 -1 reviewed p.G83R 1.000 73 0% 84 50% 1 100% unknown(0) deleterious(0) - HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1 OR8S1 341568 genome.wustl.edu 37 12 48919445 48919445 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001005203.2 +1 validated p.E11K 0.187 113 0% 136 39.7% 0 - benign(0.004) deleterious(0.02) neutral(0.383) superfamily_Family A G protein-coupled receptor-like SMARCD1 6602 genome.wustl.edu 37 12 50481162 50481162 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_003076.4 +1 reviewed p.R183L 1.000 101 1% 106 56.6% 4 75% probably_damaging(1) deleterious(0) deleterious(0.945) NULL KRT75 9119 genome.wustl.edu 37 12 52825417 52825417 + Silent SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_004693.2 -1 reviewed p.V260 0.859 99 1% 116 45.7% 0 - - - - HMMPfam_Filament KRT76 51350 genome.wustl.edu 37 12 53171000 53171000 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_015848.4 -1 reviewed p.G26S 0.233 57 0% 68 42.6% 0 - unknown(0) tolerated(0.1) - NULL ENSG00000247550 0 genome.wustl.edu 37 12 53433134 53433134 + RNA SNP T T A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000499537 -1 novel NULL 0.000 101 0% 128 47.7% 7 57.1% - - - - HOXC12 3228 genome.wustl.edu 37 12 54350305 54350305 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_173860.1 +1 reviewed p.K268N 1.000 50 0% 39 38.5% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like,PatternScan_HOMEOBOX_1 NCKAP1L 3071 genome.wustl.edu 37 12 54930827 54930827 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_005337.4 +1 reviewed p.E1058A 1.000 158 0% 233 47.2% 3 0% possibly_damaging(0.718) deleterious(0) deleterious(0.705) HMMPfam_Nckap1 OR6C74 254783 genome.wustl.edu 37 12 55641710 55641710 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001005490.1 +1 provisional p.I213M 0.000 99 0% 150 47.3% 0 - benign(0.152) tolerated(0.07) neutral(0.333) HMMPfam_7tm_1,superfamily_SSF81321 OR6C1 390321 genome.wustl.edu 37 12 55714656 55714656 + Silent SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001005182.1 +1 provisional p.S91 0.143 124 0% 185 42.2% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR6C3 254786 genome.wustl.edu 37 12 55725933 55725933 + Missense_Mutation SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_054104.1 +1 provisional p.F150S 0.014 231 0% 291 47.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 OR6C75 390323 genome.wustl.edu 37 12 55759820 55759820 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001005497.1 +1 provisional p.S309Y 0.052 56 0% 61 36.1% 0 - benign(0.029) tolerated(1) neutral(0.002) NULL OR6C65 403282 genome.wustl.edu 37 12 55795074 55795074 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001005518.1 +1 provisional p.I254M 0.292 158 0% 226 42.5% 0 - probably_damaging(0.996) deleterious(0.05) deleterious(0.807) HMMPfam_7tm_1,superfamily_SSF81321 MMP19 4327 genome.wustl.edu 37 12 56231124 56231124 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002429.4 -1 reviewed p.R408Q 0.000 64 0% 71 52.1% 6 0% benign(0.005) tolerated(0.19) neutral(0.050) superfamily_Hemopexin-like domain,HMMPfam_Hemopexin,HMMSmart_SM00120 ERBB3 2065 genome.wustl.edu 37 12 56495457 56495457 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001982.2 +1 reviewed p.S1216F 0.999 60 0% 77 42.9% 125 47.2% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL MYO1A 4640 genome.wustl.edu 37 12 57430619 57430619 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_005379.2 -1 reviewed p.K737 1.000 239 0% 325 44.3% 0 - - - - HMMSmart_IQ,superfamily_SSF52540 INHBE 83729 genome.wustl.edu 37 12 57849372 57849372 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_031479.3 +1 validated p.R18Q 0.178 24 0% 19 42.1% 0 - benign(0) tolerated(0.36) neutral(0.020) NULL KIF5A 3798 genome.wustl.edu 37 12 57966424 57966424 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_004984.2 +1 reviewed p.R544Q 1.000 69 0% 74 51.4% 0 - probably_damaging(0.985) tolerated(0.07) deleterious(0.751) NULL KIF5A 3798 genome.wustl.edu 37 12 57966430 57966430 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_004984.2 +1 reviewed p.R546Q 1.000 73 0% 80 40% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL SRGAP1 57522 genome.wustl.edu 37 12 64488754 64488754 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_020762.2 +1 validated p.R528W 1.000 183 0% 238 44.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP IFNG 3458 genome.wustl.edu 37 12 68551754 68551754 + Missense_Mutation SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000619.2 -1 reviewed p.V102A 0.000 269 0% 410 48% 0 - possibly_damaging(0.908) tolerated(1) neutral(0.361) HMMPfam_IFN-gamma,superfamily_4-helical cytokines PTPRB 5787 genome.wustl.edu 37 12 70980858 70980858 + Missense_Mutation SNP C C T rs184275696 by1000genomes TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001109754.1 -1 reviewed p.R747Q 1.000 159 0.6% 185 43.2% 1 0% probably_damaging(1) tolerated(0.55) deleterious(0.507) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III ZFC3H1 196441 genome.wustl.edu 37 12 72050778 72050778 + Missense_Mutation SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_144982.4 -1 validated p.L301S 1.000 225 0% 298 50% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL THAP2 83591 genome.wustl.edu 37 12 72068120 72068120 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_031435.2 +1 provisional p.R70Q 1.000 131 0% 166 43.4% 1 100% probably_damaging(0.975) tolerated(0.27) neutral(0.451) HMMPfam_THAP,HMMSmart_SM00692 NAV3 89795 genome.wustl.edu 37 12 78579429 78579429 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_014903.4 +1 validated p.R1892H 1.000 272 0% 339 46.3% 0 - benign(0.001) tolerated(0.21) neutral(0.044) NULL NAV3 89795 genome.wustl.edu 37 12 78593140 78593140 + Nonsense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_014903.4 +1 validated p.E2160* 1.000 96 0% 148 43.9% 0 - - - - HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases SLC6A15 55117 genome.wustl.edu 37 12 85279757 85279757 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_182767.4 -1 validated p.R127Q 0.995 174 0% 262 45% 0 - possibly_damaging(0.936) tolerated(0.45) neutral(0.394) HMMPfam_SNF CEP290 80184 genome.wustl.edu 37 12 88523630 88523630 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_025114.3 -1 reviewed p.K231N 0.992 183 0% 268 43.7% 0 - probably_damaging(0.998) tolerated(0.45) deleterious(0.486) NULL PLEKHG7 440107 genome.wustl.edu 37 12 93157971 93157971 + Splice_Site SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001004330.2 +1 validated e9+1 1.000 202 0% 276 46.4% 0 - - - - - LOC100127919 100127919 genome.wustl.edu 37 12 93429119 93429119 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 XM_001719900.1 +1 model p.D27N 0.001 31 0% 44 25% 0 - - - - NULL CDK17 5128 genome.wustl.edu 37 12 96676323 96676323 + Nonsense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002595.3 -1 reviewed p.R474* 1.000 201 0% 286 40.6% 0 - - - - superfamily_Protein kinase-like (PK-like) LOC121456 121456 genome.wustl.edu 37 12 98848731 98848731 + RNA SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 XR_016411.2 -1 model NULL 0.837 19 0% 32 28.1% 0 - - - - - SCYL2 55681 genome.wustl.edu 37 12 100707248 100707248 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_017988.4 +1 provisional p.R301C 1.000 123 0% 163 46.6% 0 - benign(0.175) deleterious(0) neutral(0.461) HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),superfamily_ARM repeat,HMMPfam_Pkinase UTP20 27340 genome.wustl.edu 37 12 101777344 101777344 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_014503.2 +1 validated p.L2651 0.001 63 0% 97 43.3% 14 28.5% - - - NULL MYBPC1 4604 genome.wustl.edu 37 12 102043085 102043085 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002465.2 +1 validated p.R415Q 0.000 152 0% 198 41.9% 0 - benign(0.1) deleterious(0.02) neutral(0.391) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin NT5DC3 51559 genome.wustl.edu 37 12 104200137 104200137 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001031701.2 -1 validated p.D163N 1.000 182 0.5% 217 48.8% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_5_nucleotid,superfamily_HAD-like SVOP 55530 genome.wustl.edu 37 12 109328032 109328032 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_018711.2 -1 validated p.L269I 0.998 74 0% 69 49.3% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL RAD9B 144715 genome.wustl.edu 37 12 110950593 110950593 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_152442.3 +1 validated p.R133I 0.977 176 0% 237 44.3% 0 - possibly_damaging(0.846) deleterious(0) deleterious(0.770) HMMPfam_Rad9,superfamily_DNA clamp C12orf51 283450 genome.wustl.edu 37 12 112617082 112617082 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001109662.2 -1 validated p.L3281F 1.000 145 0% 171 46.2% 1 100% probably_damaging(0.996) - - NULL SDS 10993 genome.wustl.edu 37 12 113835050 113835050 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_006843.2 -1 reviewed p.I191 0.996 22 0% 17 35.3% 0 - - - - HMMPfam_PALP,superfamily_PyrdxlP-dep_enz_bsu TCTN2 79867 genome.wustl.edu 37 12 124155823 124155823 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_024809.3 +1 validated p.R12 0.512 48 0% 48 43.8% 3 66.6% - - - NULL POLE 5426 genome.wustl.edu 37 12 133250289 133250289 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_006231.2 -1 validated p.V411L 1.000 25 0% 32 53.1% 8 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DNA_pol_B_exo,HMMSmart_POLBc,superfamily_RNaseH_fold GOLGA3 2802 genome.wustl.edu 37 12 133363362 133363362 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_005895.3 -1 reviewed p.F941 0.596 43 0% 69 49.3% 22 45.4% - - - superfamily_Prefoldin ZNF10 7556 genome.wustl.edu 37 12 133732854 133732854 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_015394.4 +1 reviewed p.R341I 1.000 122 0% 211 45% 6 66.6% probably_damaging(0.986) deleterious(0) deleterious(0.879) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ENSG00000187721 0 genome.wustl.edu 37 13 19600475 19600475 + Missense_Mutation SNP C C T rs9511168 byCluster;byFrequency;byHapMap;by1000genomes TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000433887 -1 known p.D111N 0.973 25 0% 67 31.3% 0 - benign(0.005) deleterious(0.05) neutral(0.345) HMMPfam_GTF2I TPTE2 93492 genome.wustl.edu 37 13 20067596 20067596 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_199254.2 -1 validated p.A19 0.000 261 0% 287 47.7% 0 - - - - NULL ZMYM2 7750 genome.wustl.edu 37 13 20567691 20567691 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_003453.2 +1 validated p.F160C 1.000 120 0% 200 43% 0 - probably_damaging(0.987) deleterious(0.01) deleterious(0.842) NULL SGCG 6445 genome.wustl.edu 37 13 23777928 23777928 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000231.2 +1 reviewed p.R32I 1.000 273 0% 292 30.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sarcoglycan_1 SACS 26278 genome.wustl.edu 37 13 23914732 23914732 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_014363.4 -1 reviewed p.E1095K 1.000 156 0% 187 46% 0 - possibly_damaging(0.605) tolerated(0.62) neutral(0.213) NULL RNF17 56163 genome.wustl.edu 37 13 25367214 25367214 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_031277.2 +1 reviewed p.V324F 0.869 73 0% 70 41.4% 0 - benign(0.267) tolerated(0.05) neutral(0.373) NULL WASF3 10810 genome.wustl.edu 37 13 27256755 27256755 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_006646.5 +1 reviewed p.A332V 0.962 65 0% 77 45.5% 2 50% benign(0.003) tolerated(0.32) neutral(0.024) NULL USP12 219333 genome.wustl.edu 37 13 27649442 27649442 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_182488.2 -1 provisional p.K273T 1.000 140 0% 204 53.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UCH,superfamily_SSF54001 HMGB1 3146 genome.wustl.edu 37 13 31036813 31036813 + Silent SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002128.4 -1 validated p.P111 0.164 165 0% 206 42.2% 156 42.9% - - - HMMPfam_HMG_box,HMMSmart_SM00398,superfamily_HMG-box B3GALTL 145173 genome.wustl.edu 37 13 31789216 31789216 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_194318.3 +1 reviewed p.K33 0.982 226 0% 228 49.6% 0 - - - - NULL NBEA 26960 genome.wustl.edu 37 13 35615082 35615082 + Nonsense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_015678.4 +1 validated p.E103* 1.000 93 0% 156 39.7% 0 - - - - superfamily_ARM repeat NBEA 26960 genome.wustl.edu 37 13 35692368 35692368 + Nonsense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_015678.4 +1 validated p.R696* 1.000 163 0% 282 45% 0 - - - - superfamily_ARM repeat MAB21L1 4081 genome.wustl.edu 37 13 36049807 36049807 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_005584.4 -1 reviewed p.E157K 1.000 29 0% 29 44.8% 0 - possibly_damaging(0.864) tolerated(0.05) deleterious(0.680) HMMPfam_Mab-21 LHFP 10186 genome.wustl.edu 37 13 40175255 40175255 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_005780.2 -1 reviewed p.L33 1.000 26 0% 27 44.4% 36 38.8% - - - HMMPfam_L_HGMIC_fpl COG6 57511 genome.wustl.edu 37 13 40235011 40235011 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_020751.2 +1 reviewed p.R121H 1.000 153 0% 212 41.5% 1 0% benign(0.265) deleterious(0.04) neutral(0.377) HMMPfam_COG6 RB1 5925 genome.wustl.edu 37 13 48919244 48919244 + Nonsense_Mutation SNP G G T rs121913296 TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000321.2 +1 reviewed p.E137* 1.000 279 0% 342 41.5% 0 - - - - NULL RB1 5925 genome.wustl.edu 37 13 48955517 48955517 + Nonsense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000321.2 +1 reviewed p.E545* 1.000 150 0% 170 45.3% 0 - - - - HMMPfam_RB_A,superfamily_Cyclin-like CKAP2 26586 genome.wustl.edu 37 13 53030673 53030673 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001098525.1 +1 validated p.K29T 1.000 154 0% 220 42.7% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL KLHL1 57626 genome.wustl.edu 37 13 70370969 70370969 + Nonsense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_020866.2 -1 validated p.R514* 1.000 138 0% 166 39.2% 0 - - - - HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain FBXL3 26224 genome.wustl.edu 37 13 77581816 77581816 + Nonsense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_012158.2 -1 reviewed p.R251* 1.000 108 0% 113 48.7% 10 60% - - - superfamily_SSF52047 ABCC4 10257 genome.wustl.edu 37 13 95735441 95735441 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_005845.3 -1 reviewed p.R880Q 0.071 108 0% 118 39.8% 0 - possibly_damaging(0.691) tolerated(0.52) neutral(0.256) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCC4 10257 genome.wustl.edu 37 13 95899266 95899266 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_005845.3 -1 reviewed p.K90T 1.000 189 0% 260 38.1% 0 - probably_damaging(0.986) tolerated(0.39) neutral(0.451) superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain DZIP1 22873 genome.wustl.edu 37 13 96274632 96274632 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_198968.2 -1 validated p.D359N 1.000 242 0.4% 385 42.3% 1 100% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL SLC15A1 6564 genome.wustl.edu 37 13 99358477 99358477 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_005073.3 -1 reviewed p.E394K 0.003 276 0% 366 41% 0 - possibly_damaging(0.439) tolerated(0.08) neutral(0.443) HMMPfam_PTR2,superfamily_MFS general substrate transporter PCCA 5095 genome.wustl.edu 37 13 100953797 100953797 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000282.3 +1 reviewed p.R383 0.996 91 0% 114 43% 6 50% - - - HMMPfam_CPSase_L_D2,superfamily_SSF56059 LOC643677 643677 genome.wustl.edu 37 13 103391959 103391959 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 XM_002344085.1 -1 model p.E3625D 0.001 193 0% 255 51% 0 - - - - NULL ERCC5 2073 genome.wustl.edu 37 13 103504590 103504590 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000123.2 +1 reviewed p.R71C 1.000 228 0% 324 47.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_XPG_N,HMMSmart_SM00485,PatternScan_XPG_1,superfamily_PIN domain-like ERCC5 2073 genome.wustl.edu 37 13 103508441 103508441 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000123.2 +1 reviewed p.M169I 1.000 304 0.3% 440 37% 2 0% benign(0.061) tolerated(0.36) neutral(0.024) superfamily_PIN domain-like F7 2155 genome.wustl.edu 37 13 113771901 113771901 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000131.3 +1 reviewed p.A266T 0.008 79 0% 72 41.7% 1 0% benign(0.197) deleterious(0.03) neutral(0.383) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases CUL4A 8451 genome.wustl.edu 37 13 113898790 113898790 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001008895.1 +1 validated p.T432M 1.000 71 0% 66 40.9% 18 44.4% benign(0.001) tolerated(0.26) neutral(0.034) HMMPfam_Cullin,superfamily_Cullin homology domain TFDP1 7027 genome.wustl.edu 37 13 114287535 114287535 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_007111.4 +1 reviewed p.E137K 1.000 46 0% 40 55% 95 47.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_E2F_TDP,superfamily_SSF46785 ATP4B 496 genome.wustl.edu 37 13 114312455 114312455 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000705.3 -1 reviewed p.A2V 0.995 14 0% 14 50% 0 - probably_damaging(0.999) tolerated(0.34) deleterious(0.513) HMMPfam_Na_K-ATPase POTEM 641455 genome.wustl.edu 37 14 19990656 19990656 + Silent SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001145442.1 -1 provisional p.Q473 0.687 955 0% 1381 7.7% 0 - - - - NULL ENSG00000226518 0 genome.wustl.edu 37 14 20085467 20085467 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000422907 +1 known p.T23 0.995 135 0% 214 10.3% 0 - - - - NULL OR4L1 122742 genome.wustl.edu 37 14 20529126 20529126 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001004717.1 +1 provisional p.S308F 0.000 60 0% 78 46.2% 0 - possibly_damaging(0.918) tolerated(0.44) neutral(0.381) NULL RNASE6 6039 genome.wustl.edu 37 14 21249896 21249896 + Missense_Mutation SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_005615.4 +1 validated p.V13A 0.003 162 0% 171 43.9% 0 - unknown(0) tolerated(0.07) - NULL ARHGEF40 55701 genome.wustl.edu 37 14 21546355 21546355 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_018071.3 +1 validated p.R685H 0.052 139 0% 156 41% 34 58.8% benign(0.001) tolerated(0.11) neutral(0.272) NULL CHD8 57680 genome.wustl.edu 37 14 21873439 21873439 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_020920.3 -1 reviewed p.T800I 1.000 116 0% 168 44% 2 50% benign(0.022) tolerated(0.12) neutral(0.262) HMMPfam_SNF2_N TM9SF1 10548 genome.wustl.edu 37 14 24662303 24662303 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_006405.5 -1 validated p.R173Q 1.000 70 0% 97 38.1% 99 39.3% possibly_damaging(0.478) tolerated(0.25) neutral(0.195) HMMPfam_EMP70 CHMP4A 29082 genome.wustl.edu 37 14 24680896 24680896 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_014169.2 -1 validated p.K100N 0.999 329 0% 488 42% 29 51.7% possibly_damaging(0.952) tolerated(0.07) deleterious(0.715) HMMPfam_Snf7 CTSG 1511 genome.wustl.edu 37 14 25044567 25044567 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001911.2 -1 reviewed p.A36V 0.972 51 0% 72 48.6% 0 - possibly_damaging(0.629) tolerated(0.05) deleterious(0.565) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys FOXG1 2290 genome.wustl.edu 37 14 29237531 29237531 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_005249.3 +1 reviewed p.S349L 1.000 18 0% 14 28.6% 116 55.1% benign(0.068) deleterious(0.04) neutral(0.353) NULL STRN3 29966 genome.wustl.edu 37 14 31425380 31425380 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001083893.1 -1 validated p.R117S 1.000 296 0% 356 46.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Striatin CFL2 1073 genome.wustl.edu 37 14 35182749 35182749 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_021914.7 -1 reviewed p.N8H 1.000 157 0% 217 38.7% 0 - benign(0.156) deleterious(0.01) neutral(0.420) superfamily_Actin depolymerizing proteins BAZ1A 11177 genome.wustl.edu 37 14 35224069 35224069 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_013448.2 -1 validated p.R1480C 1.000 301 0% 396 44.7% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain,PatternScan_BROMODOMAIN_1 TTC6 319089 genome.wustl.edu 37 14 38296491 38296491 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 XM_002343299.1 +1 model p.A1468S 1.000 189 0% 253 43.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like RPL10L 140801 genome.wustl.edu 37 14 47120879 47120879 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_080746.2 -1 reviewed p.R21C 1.000 48 0% 96 45.8% 0 - possibly_damaging(0.912) deleterious(0) deleterious(0.808) HMMPfam_Ribosomal_L16,superfamily_Ribosomal_L10e/L16 SOS2 6655 genome.wustl.edu 37 14 50649249 50649249 + Missense_Mutation SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_006939.2 -1 validated p.T264A 1.000 121 0% 184 48.4% 1 100% benign(0.005) tolerated(0.71) neutral(0.002) HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain ATP5S 27109 genome.wustl.edu 37 14 50792376 50792376 + Nonsense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001003803.1 +1 reviewed p.E195* 1.000 226 0% 275 44.4% 2 0% - - - superfamily_RNI-like PYGL 5836 genome.wustl.edu 37 14 51379808 51379808 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002863.4 -1 reviewed p.T520M 0.978 68 0% 56 48.2% 8 50% benign(0.394) deleterious(0.01) deleterious(0.532) HMMPfam_Phosphorylase,superfamily_SSF53756 TRIM9 114088 genome.wustl.edu 37 14 51467451 51467451 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_015163.5 -1 reviewed p.A472T 0.994 94 0% 122 41.8% 0 - benign(0) tolerated(0.08) neutral(0.300) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III FRMD6 122786 genome.wustl.edu 37 14 52182158 52182158 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001042481.1 +1 validated p.R314H 1.000 78 0% 85 42.4% 2 100% probably_damaging(0.981) deleterious(0.01) deleterious(0.831) HMMPfam_FERM_C,superfamily_SSF50729 GNG2 54331 genome.wustl.edu 37 14 52433368 52433368 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_053064.3 +1 validated p.P60L 1.000 85 0% 112 54.5% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_G-gamma,HMMSmart_SM00224,superfamily_Transducin (heterotrimeric G protein) gamma chain NAA30 122830 genome.wustl.edu 37 14 57858280 57858280 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001011713.2 +1 validated p.G202D 1.000 19 0% 21 47.6% 3 33.3% benign(0.014) tolerated(0.1) neutral(0.287) NULL KCNH5 27133 genome.wustl.edu 37 14 63174447 63174447 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_139318.3 -1 reviewed p.E916K 1.000 153 0.7% 170 48.2% 0 - possibly_damaging(0.934) deleterious(0.01) deleterious(0.786) NULL SYNE2 23224 genome.wustl.edu 37 14 64447403 64447403 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_182914.2 +1 reviewed p.R534Q 1.000 105 0% 134 39.6% 0 - benign(0.019) - - superfamily_Spectrin SYNE2 23224 genome.wustl.edu 37 14 64450593 64450593 + Nonsense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_182914.2 +1 reviewed p.Q714* 0.000 43 0% 78 28.2% 0 - - - - NULL MTHFD1 4522 genome.wustl.edu 37 14 64921540 64921540 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_005956.3 +1 reviewed p.R889C 1.000 122 0% 148 51.4% 161 39.1% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_FTHFS,superfamily_P-loop containing nucleoside triphosphate hydrolases LOC100287214 100287214 genome.wustl.edu 37 14 65007804 65007804 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 XM_002343281.1 -1 model p.E464K 0.997 47 0% 45 40% 66 39.3% - - - HMMPfam_NAD-GH FUT8 2530 genome.wustl.edu 37 14 66083894 66083894 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_004480.3 +1 reviewed p.R27I 0.995 235 0% 340 42.6% 0 - unknown(0) tolerated(0.08) - NULL DCAF5 8816 genome.wustl.edu 37 14 69588992 69588992 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_003861.2 -1 validated p.H100 1.000 88 0% 106 41.5% 17 35.2% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 ENSG00000175985 0 genome.wustl.edu 37 14 69995060 69995060 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000322564 +1 known p.R482H 1.000 22 0% 36 55.6% 0 - benign(0.001) deleterious(0.05) neutral(0.345) NULL YLPM1 56252 genome.wustl.edu 37 14 75265954 75265954 + Silent SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_019589.2 +1 validated p.E1318 1.000 237 0% 293 42.7% 16 56.2% - - - NULL PGF 5228 genome.wustl.edu 37 14 75415217 75415217 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002632.4 -1 validated p.E129K 0.995 18 0% 32 43.8% 1 0% possibly_damaging(0.915) deleterious(0.03) deleterious(0.731) HMMPfam_PDGF,HMMSmart_SM00141,superfamily_Cystine-knot cytokines C14orf118 55668 genome.wustl.edu 37 14 76638221 76638221 + Nonsense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_017926.2 +1 validated p.E255* 1.000 161 0% 206 41.3% 6 16.6% - - - NULL STON2 85439 genome.wustl.edu 37 14 81864721 81864721 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_033104.2 -1 provisional p.T2 1.000 77 0% 125 44% 0 - - - - NULL FLRT2 23768 genome.wustl.edu 37 14 86088162 86088162 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_013231.4 +1 reviewed p.E102K 1.000 81 0% 85 38.8% 1 100% probably_damaging(0.995) deleterious(0.02) deleterious(0.841) superfamily_SSF52058 PSMC1 5700 genome.wustl.edu 37 14 90734712 90734712 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002802.2 +1 reviewed p.P279L 1.000 120 0% 162 35.8% 69 47.8% possibly_damaging(0.922) deleterious(0) deleterious(0.816) HMMSmart_SM00382,HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases C14orf142 84520 genome.wustl.edu 37 14 93670072 93670072 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_032490.4 -1 validated p.F88 1.000 431 0% 682 19.6% 27 0% benign(0.113) - - NULL SERPINA11 256394 genome.wustl.edu 37 14 94909493 94909493 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001080451.1 -1 provisional p.Q329H 0.000 148 0% 165 40.6% 0 - benign(0) tolerated(0.11) neutral(0.272) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin ATG2B 55102 genome.wustl.edu 37 14 96769478 96769478 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_018036.5 -1 validated p.R1653C 1.000 139 0% 180 41.7% 0 - benign(0.417) deleterious(0.04) deleterious(0.484) NULL PPP2R5C 5527 genome.wustl.edu 37 14 102323067 102323067 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002719.3 +1 reviewed p.R47C 1.000 174 0% 270 50.7% 16 50% probably_damaging(0.979) deleterious(0.01) deleterious(0.828) HMMPfam_B56 PPP2R5C 5527 genome.wustl.edu 37 14 102349628 102349628 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002719.3 +1 reviewed p.S147F 1.000 369 0% 440 44.3% 0 - probably_damaging(0.985) deleterious(0) deleterious(0.877) HMMPfam_B56,superfamily_ARM repeat TRAF3 7187 genome.wustl.edu 37 14 103342015 103342015 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_003300.2 +1 reviewed p.R118W 1.000 140 0% 207 45.4% 2 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Traf_like,superfamily_SSF57850 ADSSL1 122622 genome.wustl.edu 37 14 105212598 105212598 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_199165.1 +1 validated p.V442 0.969 20 0% 30 46.7% 39 64.1% - - - HMMPfam_Adenylsucc_synt,HMMSmart_Adenylsucc_synt,superfamily_SSF52540 ENSG00000215407 0 genome.wustl.edu 37 15 20450215 20450215 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000400226 -1 known p.Y369 0.879 103 0% 118 11.9% 5 0% - - - HMMPfam_BRO1 GOLGA6L6 727832 genome.wustl.edu 37 15 20739707 20739707 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001145004.1 -1 inferred p.E681D 0.231 82 0% 122 13.1% 0 - unknown(0) tolerated(0.1) - NULL GOLGA6L1 283767 genome.wustl.edu 37 15 22743347 22743347 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001001413.3 +1 provisional p.E578K 0.134 86 0% 154 16.2% 0 - unknown(0) tolerated(0.5) - NULL ENSG00000223681 0 genome.wustl.edu 37 15 23326048 23326048 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000422607 -1 known p.R215Q 1.000 204 0% 298 22.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ENSG00000206149 0 genome.wustl.edu 37 15 28913435 28913435 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000383034 +1 known p.T429 0.756 131 0.8% 175 26.9% 23 17.3% - - - NULL PGBD4 161779 genome.wustl.edu 37 15 34395967 34395967 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_152595.4 +1 validated p.G412V 0.327 60 0% 60 50% 1 100% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL SLC12A6 9990 genome.wustl.edu 37 15 34543218 34543218 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_133647.1 -1 reviewed p.I458 0.623 155 0% 204 45.6% 0 - - - - HMMPfam_AA_permease LTK 4058 genome.wustl.edu 37 15 41805310 41805310 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002344.5 -1 reviewed p.L18I 0.952 27 0% 31 38.7% 0 - possibly_damaging(0.945) tolerated(0.76) neutral(0.391) NULL CDAN1 146059 genome.wustl.edu 37 15 43021288 43021288 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_138477.2 -1 reviewed p.P860T 1.000 57 0% 81 50.6% 2 100% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL SEMA6D 80031 genome.wustl.edu 37 15 48056234 48056234 + Missense_Mutation SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_153618.1 +1 reviewed p.V312A 1.000 147 0% 187 42.2% 0 - probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain SLC12A1 6557 genome.wustl.edu 37 15 48521429 48521429 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000338.2 +1 reviewed p.F256 0.775 292 0% 381 45.9% 0 - - - - HMMPfam_AA_permease FBN1 2200 genome.wustl.edu 37 15 48729257 48729257 + Nonsense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000138.4 -1 reviewed p.E2133* 1.000 145 0% 150 52.7% 4 0% - - - HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin SECISBP2L 9728 genome.wustl.edu 37 15 49320745 49320745 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_014701.2 -1 provisional p.D267N 1.000 86 0% 125 47.2% 3 66.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL COPS2 9318 genome.wustl.edu 37 15 49426248 49426248 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001143887.1 -1 validated p.F265C 1.000 219 0% 306 42.2% 11 81.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00753,superfamily_TPR-like ATP8B4 79895 genome.wustl.edu 37 15 50288950 50288950 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_024837.2 -1 validated p.T171 0.021 244 0.4% 284 41.2% 0 - - - - HMMPfam_E1-E2_ATPase,superfamily_SSF81653,superfamily_SSF81665 USP8 9101 genome.wustl.edu 37 15 50782026 50782026 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001128610.1 +1 validated p.R640Q 0.982 37 0% 33 54.5% 8 75% possibly_damaging(0.809) deleterious(0.03) deleterious(0.669) NULL TRPM7 54822 genome.wustl.edu 37 15 50929630 50929630 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_017672.4 -1 reviewed p.R274I 1.000 112 0% 130 45.4% 1 100% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL GLDN 342035 genome.wustl.edu 37 15 51696535 51696535 + Nonsense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_181789.2 +1 validated p.R414* 1.000 104 0% 122 13.9% 0 - - - - HMMPfam_OLF,HMMSmart_SM00284 TEX9 374618 genome.wustl.edu 37 15 56681593 56681593 + Silent SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_198524.1 +1 provisional p.N130 0.928 171 0% 264 40.9% 5 60% - - - NULL TPM1 7168 genome.wustl.edu 37 15 63336311 63336311 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000366.5 +1 reviewed p.A67V 1.000 58 0% 35 51.4% 14 35.7% benign(0) tolerated(0.17) neutral(0.059) HMMPfam_Tropomyosin ITGA11 22801 genome.wustl.edu 37 15 68595466 68595466 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001004439.1 -1 reviewed p.L1166 1.000 21 0% 22 40.9% 1 0% - - - NULL NOX5 79400 genome.wustl.edu 37 15 69327808 69327808 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_024505.3 +1 validated p.L306 0.459 32 0% 37 37.8% 2 0% - - - HMMPfam_Ferric_reduct NOX5 79400 genome.wustl.edu 37 15 69339761 69339761 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_024505.3 +1 validated p.I549 0.964 40 0% 67 49.3% 0 - - - - HMMPfam_FAD_binding_8,superfamily_Riboflavin_synthase_like_b-brl MYO9A 4649 genome.wustl.edu 37 15 72196305 72196305 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_006901.2 -1 validated p.R948C 1.000 132 0% 186 39.8% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases ISLR2 57611 genome.wustl.edu 37 15 74425948 74425948 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001130136.1 +1 validated p.P285S 0.031 24 0% 42 54.8% 4 50% benign(0.003) tolerated(0.27) neutral(0.034) HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726 ISLR2 57611 genome.wustl.edu 37 15 74427234 74427234 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001130136.1 +1 validated p.F713 1.000 19 0% 16 50% 0 - - - - NULL COX5A 9377 genome.wustl.edu 37 15 75221559 75221559 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_004255.3 -1 reviewed p.R39C 0.982 129 0% 152 34.2% 161 45.9% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL SNX33 257364 genome.wustl.edu 37 15 75942913 75942913 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_153271.1 +1 provisional p.K490N 1.000 34 0% 67 49.3% 37 43.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_BAR_3_WASP_bdg KIAA1024 23251 genome.wustl.edu 37 15 79760632 79760632 + Missense_Mutation SNP G G A rs189062292 by1000genomes TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_015206.2 +1 validated p.R886Q 1.000 54 0% 68 51.5% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_UPF0258 EFTUD1 79631 genome.wustl.edu 37 15 82456240 82456240 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_024580.5 -1 validated p.F612 0.961 195 0% 189 37.6% 5 20% - - - superfamily_EF-G C-terminal domain-like EFTUD1 79631 genome.wustl.edu 37 15 82545089 82545089 + Nonsense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_024580.5 -1 validated p.E63* 1.000 180 0% 256 41% 3 0% - - - HMMPfam_GTP_EFTU,superfamily_P-loop containing nucleoside triphosphate hydrolases BNC1 646 genome.wustl.edu 37 15 83926709 83926709 + Missense_Mutation SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001717.3 -1 reviewed p.T824A 0.000 108 0% 173 46.8% 0 - benign(0.001) tolerated(0.25) neutral(0.037) NULL AGBL1 123624 genome.wustl.edu 37 15 86807696 86807696 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_152336.2 +1 validated p.K386Q 0.001 40 0% 55 50.9% 0 - benign(0.002) tolerated(0.55) neutral(0.007) NULL AGBL1 123624 genome.wustl.edu 37 15 87097665 87097665 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_152336.2 +1 validated p.S918Y 0.995 71 0% 76 42.1% 0 - probably_damaging(0.998) tolerated(0.07) deleterious(0.793) HMMPfam_Peptidase_M14 MRPS11 64963 genome.wustl.edu 37 15 89020250 89020250 + Nonsense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_022839.2 +1 reviewed p.R148* 1.000 94 1.1% 120 41.7% 193 35.2% - - - HMMPfam_Ribosomal_S11,superfamily_Translational machinery components HDDC3 374659 genome.wustl.edu 37 15 91475068 91475068 + Missense_Mutation SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_198527.2 -1 provisional p.D92G 1.000 56 0% 52 30.8% 15 40% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMSmart_HDc,HMMPfam_HD,superfamily_SSF109604 SV2B 9899 genome.wustl.edu 37 15 91824966 91824966 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_014848.4 +1 validated p.R461K 1.000 103 0% 148 45.9% 0 - benign(0) tolerated(1) - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter SLCO3A1 28232 genome.wustl.edu 37 15 92694235 92694235 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_013272.3 +1 validated p.R582C 0.972 447 0% 644 42.4% 40 32.5% benign(0.167) deleterious(0) neutral(0.460) HMMPfam_OATP,superfamily_MFS general substrate transporter CHD2 1106 genome.wustl.edu 37 15 93540231 93540231 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001271.3 +1 reviewed p.G1214R 1.000 177 0% 211 49.8% 3 0% possibly_damaging(0.929) tolerated(0.09) deleterious(0.672) superfamily_P-loop containing nucleoside triphosphate hydrolases MCTP2 55784 genome.wustl.edu 37 15 94983437 94983437 + Silent SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_018349.3 +1 validated p.L706 0.995 283 0% 410 42.4% 0 - - - - NULL SYNM 23336 genome.wustl.edu 37 15 99670115 99670115 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000336292 +1 known p.R516Q 0.000 77 0% 129 45% 1 0% benign(0.027) tolerated(0.74) neutral(0.003) NULL OR4F4 26682 genome.wustl.edu 37 15 102462622 102462622 + Missense_Mutation SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001004195.2 -1 provisional p.I214T 0.756 318 0% 464 67% 0 - probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMPfam_7tm_1,superfamily_SSF81321 RNPS1 10921 genome.wustl.edu 37 16 2313274 2313274 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_006711.2 -1 reviewed p.S81L 1.000 31 0% 30 43.3% 157 37.5% unknown(0) tolerated(0.06) - NULL SRRM2 23524 genome.wustl.edu 37 16 2814654 2814654 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_016333.3 +1 validated p.S1375 0.056 38 0% 60 51.7% 32 56.2% - - - NULL THOC6 79228 genome.wustl.edu 37 16 3076562 3076562 + Missense_Mutation SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_024339.3 +1 validated p.M153V 0.971 101 0% 124 45.2% 140 47.8% benign(0.271) tolerated(0.58) neutral(0.034) superfamily_WD40 repeat-like OR1F1 4992 genome.wustl.edu 37 16 3254956 3254956 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_012360.1 +1 provisional p.A237V 1.000 102 0% 165 47.9% 0 - probably_damaging(0.973) tolerated(0.1) deleterious(0.702) HMMPfam_7tm_1,superfamily_SSF81321 NLRC3 197358 genome.wustl.edu 37 16 3598710 3598710 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_178844.2 -1 validated p.A883T 0.989 28 0% 37 45.9% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00368,superfamily_RNI-like TFAP4 7023 genome.wustl.edu 37 16 4310153 4310153 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_003223.2 -1 validated p.G254S 1.000 109 0% 124 45.2% 53 37.7% probably_damaging(0.996) tolerated(0.72) neutral(0.463) NULL GRIN2A 2903 genome.wustl.edu 37 16 9857926 9857926 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000833.3 -1 reviewed p.R1159C 0.995 59 0% 86 46.5% 0 - probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_NMDAR2_C TEKT5 146279 genome.wustl.edu 37 16 10775897 10775897 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_144674.1 -1 provisional p.T272 0.362 129 0% 127 48% 1 100% - - - HMMPfam_Tektin GSPT1 2935 genome.wustl.edu 37 16 11981523 11981523 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002094.3 -1 validated p.T287 0.210 238 0% 335 45.1% 5 20% - - - HMMPfam_GTP_EFTU,superfamily_P-loop containing nucleoside triphosphate hydrolases C16orf45 89927 genome.wustl.edu 37 16 15528527 15528527 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_033201.2 +1 validated p.S6Y 1.000 40 0% 38 39.5% 8 12.5% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL MYH11 4629 genome.wustl.edu 37 16 15831463 15831463 + Nonsense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001040114.1 -1 reviewed p.E1053* 1.000 62 0% 69 47.8% 3 0% - - - NULL GP2 2813 genome.wustl.edu 37 16 20329667 20329667 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001007240.1 -1 validated p.E368K 0.975 96 0% 143 51% 0 - probably_damaging(0.985) tolerated(0.41) neutral(0.447) HMMPfam_Zona_pellucida,HMMSmart_SM00241 ACSM2B 348158 genome.wustl.edu 37 16 20576154 20576154 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001105069.1 -1 validated p.R5Q 0.000 141 0% 112 42.9% 0 - benign(0.023) tolerated(0.35) neutral(0.022) NULL LOC81691 81691 genome.wustl.edu 37 16 20838520 20838520 + Splice_Site SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_030941.2 +1 validated e8+2 1.000 91 0% 113 42.5% 0 - - - - - DNAH3 55567 genome.wustl.edu 37 16 21049287 21049287 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_017539.1 -1 provisional p.I1582 0.998 31 0% 48 45.8% 4 0% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases SLC5A11 115584 genome.wustl.edu 37 16 24888672 24888672 + Missense_Mutation SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_052944.2 +1 provisional p.Y191H 0.998 69 0% 74 43.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SSF SRCAP 10847 genome.wustl.edu 37 16 30724113 30724113 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_006662.2 +1 validated p.K703Q 1.000 105 0% 154 40.3% 9 44.4% unknown(0) - - HMMPfam_SNF2_N,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases ITGAD 3681 genome.wustl.edu 37 16 31427562 31427562 + Missense_Mutation SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_005353.2 +1 validated p.D771G 0.319 81 0% 77 44.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Integrin_alpha2,superfamily_Integrin domains SHCBP1 79801 genome.wustl.edu 37 16 46617954 46617954 + Missense_Mutation SNP G G C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_024745.4 -1 validated p.D504E 0.999 92 0% 140 37.9% 2 0% possibly_damaging(0.474) tolerated(0.15) neutral(0.397) HMMSmart_SM00710,superfamily_Pectin lyase-like CYLD 1540 genome.wustl.edu 37 16 50815308 50815308 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_015247.2 +1 reviewed p.R557H 1.000 117 0% 188 39.9% 1 0% probably_damaging(0.989) tolerated(0.16) deleterious(0.499) NULL SLC6A2 6530 genome.wustl.edu 37 16 55719077 55719077 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001043.3 +1 reviewed p.E223K 0.997 85 0% 116 43.1% 0 - benign(0.004) tolerated(0.94) - HMMPfam_SNF CES1 1066 genome.wustl.edu 37 16 55846873 55846873 + Missense_Mutation SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001025195.1 -1 reviewed p.H343R 0.005 117 0% 136 32.4% 0 - benign(0) tolerated(0.09) neutral(0.296) HMMPfam_COesterase,superfamily_SSF53474 CES1 1066 genome.wustl.edu 37 16 55862688 55862688 + Missense_Mutation SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001025195.1 -1 reviewed p.Y84C 1.000 72 0% 83 27.7% 7 0% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_COesterase,superfamily_SSF53474 CDH8 1006 genome.wustl.edu 37 16 61761124 61761124 + Silent SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000394178 -1 known p.P372 1.000 135 0% 158 49.4% 0 - - - - HMMSmart_CA,superfamily_Cadherin ENSG00000250685 0 genome.wustl.edu 37 16 65388176 65388176 + RNA SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000505989 -1 known NULL 0.003 351 0% 448 44.2% 0 - - - - - CKLF 51192 genome.wustl.edu 37 16 66592128 66592128 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_016951.2 +1 reviewed p.I38 0.006 364 0.3% 449 45.9% 29 13.7% - - - HMMPfam_MARVEL CES4A 283848 genome.wustl.edu 37 16 67039259 67039259 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_173815.4 +1 validated p.F399 0.004 47 0% 53 39.6% 3 33.3% - - - HMMPfam_COesterase,superfamily_SSF53474 ELMO3 79767 genome.wustl.edu 37 16 67234263 67234263 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_024712.3 +1 reviewed p.D191N 1.000 36 0% 50 42% 28 42.8% benign(0.309) tolerated(0.58) neutral(0.102) NULL NFAT5 10725 genome.wustl.edu 37 16 69693674 69693674 + Missense_Mutation SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_138713.2 +1 reviewed p.E414G 1.000 125 0% 198 41.9% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_p53-like transcription factors,HMMPfam_RHD DHX38 9785 genome.wustl.edu 37 16 72130873 72130873 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_014003.3 +1 reviewed p.S159L 0.097 89 0% 100 48% 24 50% benign(0.119) tolerated(0.35) neutral(0.030) NULL DHX38 9785 genome.wustl.edu 37 16 72139999 72139999 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_014003.3 +1 reviewed p.G861 1.000 33 0% 30 43.3% 55 30.9% - - - HMMPfam_Helicase_C,HMMSmart_HELICc,superfamily_SSF52540 ZFP1 162239 genome.wustl.edu 37 16 75203728 75203728 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_153688.2 +1 validated p.F240 0.598 69 0% 104 56.7% 1 0% - - - HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CNTNAP4 85445 genome.wustl.edu 37 16 76495858 76495858 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_138994.3 +1 validated p.E374K 0.733 233 0% 215 52.1% 0 - benign(0) tolerated(0.64) neutral(0.003) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 CMIP 80790 genome.wustl.edu 37 16 81733327 81733327 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_198390.2 +1 validated p.K559T 1.000 94 1.1% 82 41.5% 24 50% possibly_damaging(0.84) tolerated(0.06) deleterious(0.644) NULL ZDHHC7 55625 genome.wustl.edu 37 16 85012811 85012811 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001145548.1 -1 validated p.F211C 1.000 179 0% 226 45.6% 9 33.3% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_zf-DHHC FOXF1 2294 genome.wustl.edu 37 16 86546582 86546582 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001451.2 +1 reviewed p.F344C 1.000 30 0% 38 47.4% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SLC25A11 8402 genome.wustl.edu 37 17 4841132 4841132 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_003562.4 -1 validated p.T283 0.869 33 0% 38 57.9% 150 47.3% - - - superfamily_Mitochondrial carrier,HMMPfam_Mito_carr ZFP3 124961 genome.wustl.edu 37 17 4994940 4994940 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_153018.2 +1 validated p.L47 0.000 148 0% 183 51.4% 0 - - - - NULL CLDN7 1366 genome.wustl.edu 37 17 7164213 7164213 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001307.5 -1 reviewed p.T105 0.002 43 0% 40 47.5% 526 53% - - - HMMPfam_PMP22_Claudin NEURL4 84461 genome.wustl.edu 37 17 7229597 7229597 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_032442.2 -1 validated p.E424K 1.000 70 0% 79 49.4% 20 35% benign(0.099) deleterious(0.03) neutral(0.372) HMMSmart_SM00588 ACAP1 9744 genome.wustl.edu 37 17 7252364 7252364 + Nonsense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_014716.3 +1 validated p.R577* 1.000 51 0% 52 44.2% 3 0% - - - NULL SENP3 26168 genome.wustl.edu 37 17 7466979 7466979 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000321337 +1 known p.R196W 1.000 8 0.000 8 0.625 8 25% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL TP53 7157 genome.wustl.edu 37 17 7577560 7577560 + Missense_Mutation SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000546.4 -1 reviewed p.S241P 0.999 49 0% 65 43.1% 146 39.7% probably_damaging(0.999) deleterious(0) deleterious(0.935) PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53 TP53 7157 genome.wustl.edu 37 17 7578211 7578211 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000546.4 -1 reviewed p.R213Q 0.935 131 0% 200 43.5% 101 40.5% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_p53-like transcription factors,HMMPfam_P53 ALOX12B 242 genome.wustl.edu 37 17 7990724 7990724 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001139.2 -1 reviewed p.D13N 0.007 47 0% 56 33.9% 0 - benign(0.104) tolerated(0.33) neutral(0.032) HMMPfam_PLAT,HMMSmart_LH2,superfamily_Lipase_LipOase CCDC42 146849 genome.wustl.edu 37 17 8647444 8647444 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_144681.2 -1 validated p.K48Q 1.000 216 0% 302 44.4% 0 - probably_damaging(1) tolerated(0.05) deleterious(0.845) NULL WDR16 146845 genome.wustl.edu 37 17 9480029 9480029 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_145054.4 +1 validated p.S6L 0.018 54 0% 72 55.6% 0 - benign(0) tolerated(0.3) neutral(0.029) NULL USP43 124739 genome.wustl.edu 37 17 9632174 9632174 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_153210.3 +1 validated p.P1080L 0.000 33 0% 62 54.8% 2 100% benign(0.032) deleterious(0) neutral(0.446) NULL PLD6 201164 genome.wustl.edu 37 17 17106266 17106266 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_178836.3 -1 validated p.D192N 0.000 109 0% 145 49.7% 7 42.8% benign(0.039) tolerated(0.36) neutral(0.022) superfamily_SSF56024 FAM83G 644815 genome.wustl.edu 37 17 18891664 18891664 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001039999.2 -1 validated p.G196S 0.980 51 2% 48 41.7% 14 35.7% benign(0.1) tolerated(0.37) neutral(0.026) HMMPfam_DUF1669,superfamily_Phospholipase D/nuclease SPECC1 92521 genome.wustl.edu 37 17 20109097 20109097 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001033553.1 +1 validated p.E579K 0.995 79 1.3% 87 47.1% 5 20% benign(0.334) deleterious(0.02) deleterious(0.488) NULL SLC13A2 9058 genome.wustl.edu 37 17 26820718 26820718 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_003984.3 +1 validated p.F336 0.256 66 0% 81 16% 0 - - - - HMMPfam_Na_sulph_symp NF1 4763 genome.wustl.edu 37 17 29533378 29533378 + Nonsense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001042492.2 +1 reviewed p.R461* 1.000 206 0% 247 40.5% 0 - - - - NULL NF1 4763 genome.wustl.edu 37 17 29576111 29576111 + Nonsense_Mutation SNP C C T rs137854560 TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001042492.2 +1 reviewed p.R1362* 1.000 131 0% 177 37.9% 0 - - - - HMMPfam_RasGAP,HMMSmart_SM00323,superfamily_GTPase activation domain GAP CCT6B 10693 genome.wustl.edu 37 17 33266229 33266229 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_006584.2 -1 reviewed p.R396C 0.998 217 0% 296 50.7% 1 0% probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_Cpn60_TCP1,superfamily_GroEL equatorial domain-like,superfamily_GroEL-intermediate domain like C17orf66 256957 genome.wustl.edu 37 17 34182182 34182182 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_152781.2 -1 validated p.T533M 0.001 212 0% 297 46.8% 0 - possibly_damaging(0.763) deleterious(0.04) deleterious(0.632) NULL SOCS7 30837 genome.wustl.edu 37 17 36533635 36533635 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_014598.1 +1 validated p.K486Q 1.000 150 0% 225 51.6% 1 0% benign(0.202) deleterious(0.04) neutral(0.368) superfamily_SH2 domain KRT10 3858 genome.wustl.edu 37 17 38978345 38978345 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000421.3 -1 reviewed p.R165W 0.029 163 0% 204 43.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Filament KRT32 3882 genome.wustl.edu 37 17 39623327 39623327 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002278.3 -1 reviewed p.G84D 0.000 40 2.5% 18 55.6% 0 - benign(0.064) tolerated(0.18) neutral(0.060) NULL G6PC 2538 genome.wustl.edu 37 17 41063431 41063431 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000151.2 +1 reviewed p.K354N 1.000 25 0% 36 55.6% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL C17orf104 284071 genome.wustl.edu 37 17 42746850 42746850 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001145080.2 +1 validated p.R808C 1.000 119 0% 161 44.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL KANSL1 284058 genome.wustl.edu 37 17 44248385 44248385 + Silent SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_015443.2 -1 validated p.S375 0.027 113 0% 137 12.4% 9 11.1% - - - NULL WNT9B 7484 genome.wustl.edu 37 17 44949906 44949906 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_003396.1 +1 reviewed p.T34M 0.996 2 0.000 4 1.000 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL NME1-NME2 654364 genome.wustl.edu 37 17 49248891 49248891 + Nonsense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001018136.1 +1 validated p.E244* 1.000 144 0% 221 40.7% 1237 38.3% - - - HMMPfam_NDK,HMMSmart_NDK,superfamily_NDK KIF2B 84643 genome.wustl.edu 37 17 51901205 51901205 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_032559.4 +1 validated p.D271N 1.000 56 0% 62 43.5% 0 - probably_damaging(0.973) tolerated(0.21) neutral(0.459) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases MPO 4353 genome.wustl.edu 37 17 56355456 56355456 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000250.1 -1 reviewed p.F312L 1.000 75 0% 72 38.9% 0 - possibly_damaging(0.687) tolerated(0.13) deleterious(0.498) HMMPfam_An_peroxidase,superfamily_Heme-dependent peroxidases ENSG00000227324 0 genome.wustl.edu 37 17 56738802 56738802 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000453538 -1 known p.K53 0.998 72 0% 106 50.9% 0 - - - - HMMPfam_TAP42 SKA2 348235 genome.wustl.edu 37 17 57196814 57196814 + Missense_Mutation SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_182620.3 -1 validated p.S55P 1.000 219 0% 306 47.4% 10 20% probably_damaging(0.998) tolerated(0.06) deleterious(0.797) NULL TBX2 6909 genome.wustl.edu 37 17 59481813 59481813 + Missense_Mutation SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_005994.3 +1 validated p.F281S 1.000 22 0% 16 37.5% 67 32.8% possibly_damaging(0.742) deleterious(0) deleterious(0.717) HMMPfam_T-box,HMMSmart_SM00425,superfamily_p53-like transcription factors BRIP1 83990 genome.wustl.edu 37 17 59878764 59878764 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_032043.1 -1 reviewed p.G330 0.009 213 0% 323 48.3% 0 - - - - HMMSmart_SM00488,HMMPfam_DEAD_2,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases MARCH10 162333 genome.wustl.edu 37 17 60821740 60821740 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001100875.1 -1 validated p.A178T 0.062 70 0% 113 46% 0 - benign(0.14) tolerated(0.1) neutral(0.298) NULL CACNG5 27091 genome.wustl.edu 37 17 64880741 64880741 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_014404.1 +1 reviewed p.S178L 0.999 62 0% 83 48.2% 30 53.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PMP22_Claudin ABCA10 10349 genome.wustl.edu 37 17 67187325 67187325 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_080282.3 -1 reviewed p.K668T 0.574 260 0% 342 43.9% 0 - benign(0.011) tolerated(0.13) neutral(0.253) NULL ABCA5 23461 genome.wustl.edu 37 17 67298985 67298985 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_018672.3 -1 reviewed p.E331D 1.000 109 0% 134 44% 0 - possibly_damaging(0.602) tolerated(0.06) deleterious(0.531) NULL CD300E 342510 genome.wustl.edu 37 17 72613568 72613568 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_181449.1 -1 provisional p.G26D 0.106 50 0% 54 38.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin RNF157 114804 genome.wustl.edu 37 17 74155617 74155617 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_052916.2 -1 validated p.S368Y 1.000 36 0% 36 36.1% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL C1QTNF1 114897 genome.wustl.edu 37 17 77043643 77043643 + Nonsense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_030968.2 +1 validated p.R107* 0.951 6 0.000 12 0.667 1 0% - - - HMMPfam_Collagen RNF213 57674 genome.wustl.edu 37 17 78307976 78307976 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000508628 +1 known p.K1405N 0.022 47 0% 75 45.3% 4 50% probably_damaging(0.963) tolerated(0.25) neutral(0.443) NULL RNF213 57674 genome.wustl.edu 37 17 78319965 78319965 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000508628 +1 known p.N2610 0.000 35 0% 32 34.4% 6 33.3% - - - NULL TBCD 6904 genome.wustl.edu 37 17 80895173 80895173 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_005993.4 +1 reviewed p.A1073V 0.024 107 0% 106 41.5% 129 46.5% benign(0.134) tolerated(0.31) neutral(0.038) superfamily_ARM repeat ENSG00000173213 0 genome.wustl.edu 37 18 48112 48112 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000308911 -1 known p.E205K 1.000 47 0% 53 11.3% 0 - possibly_damaging(0.845) deleterious(0) deleterious(0.768) HMMPfam_Tubulin,superfamily_Tubulin_FtsZ SMCHD1 23347 genome.wustl.edu 37 18 2770091 2770091 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_015295.2 +1 validated p.L1651I 0.964 115 0% 172 47.1% 1 100% benign(0.002) tolerated(0.49) neutral(0.011) NULL EPB41L3 23136 genome.wustl.edu 37 18 5428399 5428399 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_012307.2 -1 provisional p.R326 0.707 139 0% 159 47.2% 0 - - - - HMMPfam_FERM_C,superfamily_PH domain-like LAMA1 284217 genome.wustl.edu 37 18 6986144 6986144 + Nonsense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_005559.2 -1 validated p.E1791* 0.271 151 0% 126 49.2% 1 0% - - - superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_I ANKRD12 23253 genome.wustl.edu 37 18 9275635 9275635 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_015208.3 +1 validated p.A1959 0.041 187 0% 201 41.8% 2 50% - - - superfamily_Ankyrin repeat PPP4R1 9989 genome.wustl.edu 37 18 9595046 9595046 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001042388.1 -1 validated p.K53T 1.000 197 0% 279 45.2% 5 40% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_ARM repeat ANKRD30B 374860 genome.wustl.edu 37 18 14852378 14852378 + Nonsense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001145029.1 +1 validated p.E1360* 0.585 35 0% 29 37.9% 0 - - - - NULL CHST9 83539 genome.wustl.edu 37 18 24496675 24496675 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_031422.4 -1 validated p.F294V 1.000 117 0% 166 42.2% 0 - probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_Sulfotransfer_2 ENSG00000249271 0 genome.wustl.edu 37 18 29993177 29993177 + RNA SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000503999 +1 novel NULL 0.747 27 3.7% 41 43.9% 64 0% - - - - SLC39A6 25800 genome.wustl.edu 37 18 33706236 33706236 + Silent SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_012319.3 -1 validated p.S245 1.000 107 0% 152 46.7% 0 - - - - NULL ELP2 55250 genome.wustl.edu 37 18 33754471 33754471 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_018255.1 +1 provisional p.R783K 0.758 113 0% 177 41.8% 26 30.7% benign(0) tolerated(0.94) - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 KIAA1328 57536 genome.wustl.edu 37 18 34415334 34415334 + Nonsense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_020776.1 +1 validated p.E78* 0.245 267 0% 355 38.9% 0 - - - - NULL CELF4 56853 genome.wustl.edu 37 18 34839145 34839145 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_020180.3 -1 reviewed p.F444 1.000 39 0% 34 47.1% 0 - - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD EPG5 57724 genome.wustl.edu 37 18 43481127 43481127 + Nonsense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_020964.2 -1 validated p.E1494* 1.000 25 0% 27 40.7% 0 - - - - NULL ST8SIA5 29906 genome.wustl.edu 37 18 44260213 44260213 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_013305.4 -1 reviewed p.A308V 1.000 34 0% 34 38.2% 1 100% probably_damaging(0.999) tolerated(0.57) deleterious(0.496) HMMPfam_Glyco_transf_29 KATNAL2 83473 genome.wustl.edu 37 18 44595594 44595594 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_031303.2 +1 validated p.P205S 1.000 183 0% 265 46% 5 40% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF52540 MYO5B 4645 genome.wustl.edu 37 18 47406795 47406795 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001080467.2 -1 reviewed p.L1026I 0.990 153 0% 276 45.3% 3 66.6% possibly_damaging(0.796) tolerated(0.09) deleterious(0.595) NULL DCC 1630 genome.wustl.edu 37 18 50734133 50734133 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_005215.3 +1 reviewed p.R603C 1.000 234 0% 323 46.7% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III POLI 11201 genome.wustl.edu 37 18 51800393 51800393 + Silent SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_007195.2 +1 validated p.C113 1.000 200 0% 253 43.5% 1 0% - - - HMMPfam_IMS,superfamily_DNA/RNA polymerases ST8SIA3 51046 genome.wustl.edu 37 18 55024181 55024181 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_015879.2 +1 validated p.F114V 1.000 120 0% 144 38.2% 0 - benign(0.021) tolerated(0.32) neutral(0.025) HMMPfam_Glyco_transf_29 NARS 4677 genome.wustl.edu 37 18 55278935 55278935 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_004539.3 -1 validated p.K142N 1.000 105 0% 161 46% 126 43.6% possibly_damaging(0.534) deleterious(0.01) deleterious(0.586) HMMPfam_tRNA_anti,superfamily_Nucleic_acid_OB CDH20 28316 genome.wustl.edu 37 18 59212293 59212293 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_031891.2 +1 reviewed p.D522Y 1.000 103 0% 87 43.7% 0 - probably_damaging(0.981) deleterious(0.01) deleterious(0.831) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin CDH19 28513 genome.wustl.edu 37 18 64212016 64212016 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_021153.2 -1 reviewed p.S300 0.019 249 0% 289 49.8% 0 - - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin CDH19 28513 genome.wustl.edu 37 18 64239419 64239419 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_021153.2 -1 reviewed p.R8H 0.000 100 0% 121 47.9% 0 - benign(0) tolerated(0.55) neutral(0.007) NULL DSEL 92126 genome.wustl.edu 37 18 65179732 65179732 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_032160.2 -1 validated p.S715Y 1.000 71 0% 99 41.4% 1 100% probably_damaging(0.998) tolerated(0.07) deleterious(0.793) NULL DSEL 92126 genome.wustl.edu 37 18 65180101 65180101 + Missense_Mutation SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_032160.2 -1 validated p.L592P 0.999 55 0% 77 45.5% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL PQLC1 80148 genome.wustl.edu 37 18 77679395 77679395 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_025078.4 -1 validated p.D133N 1.000 24 0% 36 36.1% 148 47.2% benign(0.056) tolerated(0.1) neutral(0.290) NULL CREB3L3 84699 genome.wustl.edu 37 19 4171808 4171808 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_032607.1 +1 provisional p.N410H 0.000 10 0% 14 57.1% 0 - benign(0) deleterious(0.03) neutral(0.364) NULL CCDC94 55702 genome.wustl.edu 37 19 4247159 4247159 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_018074.4 +1 provisional p.V6I 1.000 182 0% 247 37.2% 2 0% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_DUF572 SAFB2 9667 genome.wustl.edu 37 19 5604658 5604658 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_014649.2 -1 validated p.E499K 0.994 143 0% 211 44.1% 12 66.6% benign(0.176) tolerated(0.49) neutral(0.027) superfamily_SSF54928 RANBP3 8498 genome.wustl.edu 37 19 5941690 5941690 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_007322.2 -1 reviewed p.C116 1.000 292 0% 388 37.9% 16 25% - - - NULL SLC25A41 284427 genome.wustl.edu 37 19 6430026 6430026 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000458275 -1 known p.S203L 0.998 36 0% 26 30.8% 0 - unknown(0) - - NULL ZNF558 148156 genome.wustl.edu 37 19 8922567 8922567 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_144693.1 -1 provisional p.R200I 1.000 148 0% 190 42.6% 3 33.3% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers MUC16 94025 genome.wustl.edu 37 19 9082700 9082700 + Nonsense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_024690.2 -1 validated p.E3039* 0.027 108 0% 150 44% 1 0% - - - NULL OR7D2 162998 genome.wustl.edu 37 19 9297105 9297105 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_175883.1 +1 provisional p.F216L 0.018 135 0% 183 51.9% 0 - benign(0.343) tolerated(0.38) neutral(0.126) HMMPfam_7tm_1,superfamily_SSF81321 ZNF266 10781 genome.wustl.edu 37 19 9524570 9524570 + Missense_Mutation SNP C C T rs149699312 by1000genomes TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_006631.2 -1 validated p.R344Q 0.081 82 1.2% 150 40.7% 6 16.6% probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF491 126069 genome.wustl.edu 37 19 11917291 11917291 + Nonsense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_152356.3 +1 validated p.R175* 0.001 109 0% 146 52.7% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF878 729747 genome.wustl.edu 37 19 12154972 12154972 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001080404.1 -1 inferred p.R462Q 0.041 79 0% 138 45.7% 0 - probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF878 729747 genome.wustl.edu 37 19 12157497 12157497 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001080404.1 -1 inferred p.L75I 0.597 249 0% 325 42.2% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF136 7695 genome.wustl.edu 37 19 12298480 12298480 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_003437.2 +1 validated p.F429 0.067 94 0% 138 48.6% 1 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 LOC100287841 100287841 genome.wustl.edu 37 19 12358279 12358279 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 XM_002343641.1 -1 model p.R479Q 0.998 25 0% 50 42% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF443 10224 genome.wustl.edu 37 19 12541760 12541760 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_005815.4 -1 validated p.R409Q 0.000 196 0% 322 45% 9 55.5% possibly_damaging(0.452) tolerated(0.64) neutral(0.151) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers PKN1 5585 genome.wustl.edu 37 19 14562673 14562673 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_213560.1 +1 reviewed p.D341N 0.990 18 0% 23 47.8% 14 35.7% benign(0.003) tolerated(0.3) neutral(0.029) superfamily_C2 domain (Calcium/lipid-binding domain CaLB) CLEC17A 388512 genome.wustl.edu 37 19 14703130 14703130 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000339847 +1 known p.E79D 0.137 132 0% 190 31.1% 0 - possibly_damaging(0.741) - - NULL EPS15L1 58513 genome.wustl.edu 37 19 16497040 16497040 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_021235.1 -1 provisional p.L702 0.999 184 0% 267 39.3% 17 41.1% - - - NULL JAK3 3718 genome.wustl.edu 37 19 17937659 17937659 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000215.3 -1 reviewed p.A1090T 0.001 25 0% 46 52.2% 2 50% benign(0) tolerated(0.42) neutral(0.014) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) IL12RB1 3594 genome.wustl.edu 37 19 18186624 18186624 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_005535.1 -1 reviewed p.R212Q 0.002 33 0% 27 37% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Fibronectin type III NCAN 1463 genome.wustl.edu 37 19 19327780 19327780 + Silent SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_004386.2 +1 validated p.V6 0.910 182 0% 252 45.6% 0 - - - - NULL ZNF493 284443 genome.wustl.edu 37 19 21606919 21606919 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001076678.2 +1 validated p.E486 0.997 40 0% 68 41.2% 0 - - - - superfamily_C2H2 and C2HC zinc fingers ZNF208 7757 genome.wustl.edu 37 19 22157113 22157113 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_007153.3 -1 provisional p.F241L 0.000 71 0% 78 46.2% 0 - benign(0.002) tolerated(0.66) neutral(0.003) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF724P 440519 genome.wustl.edu 37 19 23405974 23405974 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000418100 -1 known p.R358I 1.000 30 0% 33 66.7% 0 - benign(0.102) tolerated(0.29) neutral(0.037) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF726 730087 genome.wustl.edu 37 19 24116504 24116504 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000322487 +1 known p.R529M 0.985 29 0% 31 64.5% 0 - benign(0.17) tolerated(0.05) neutral(0.361) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ANKRD27 84079 genome.wustl.edu 37 19 33096837 33096837 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_032139.2 -1 validated p.S799 0.000 145 0% 188 41% 9 33.3% - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK ZFP14 57677 genome.wustl.edu 37 19 36832190 36832190 + Missense_Mutation SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_020917.1 -1 provisional p.T180A 0.782 135 0.7% 167 40.7% 0 - benign(0.018) tolerated(1) neutral(0.001) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZFP82 284406 genome.wustl.edu 37 19 36884085 36884085 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_133466.2 -1 provisional p.R386I 1.000 111 0% 153 42.5% 3 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF345 25850 genome.wustl.edu 37 19 37368556 37368556 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_003419.3 +1 provisional p.R275Q 0.068 127 1.6% 211 38.9% 0 - benign(0.02) tolerated(0.83) neutral(0.002) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF585B 92285 genome.wustl.edu 37 19 37678073 37678073 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_152279.3 -1 validated p.K122N 0.996 70 0% 117 44.4% 0 - possibly_damaging(0.712) tolerated(0.32) neutral(0.282) superfamily_SSF57667 ZNF571 51276 genome.wustl.edu 37 19 38056266 38056266 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_016536.3 -1 validated p.R355I 1.000 66 0% 83 37.3% 0 - probably_damaging(0.983) tolerated(0.32) neutral(0.453) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF540 163255 genome.wustl.edu 37 19 38103071 38103071 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_152606.3 +1 validated p.K297T 0.350 86 0% 132 48.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_C2H2 and C2HC zinc fingers ZNF781 163115 genome.wustl.edu 37 19 38160892 38160892 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_152605.3 -1 validated p.R53Q 0.001 115 0% 225 46.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF607 84775 genome.wustl.edu 37 19 38190387 38190387 + Silent SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_032689.4 -1 validated p.H215 0.844 79 0% 134 36.6% 1 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers WDR87 83889 genome.wustl.edu 37 19 38377061 38377061 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_031951.3 -1 provisional p.G2378D 0.000 144 0% 245 48.2% 0 - unknown(0) - - NULL WDR87 83889 genome.wustl.edu 37 19 38379163 38379163 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_031951.3 -1 provisional p.E1677D 0.013 337 0% 364 41.8% 0 - possibly_damaging(0.741) - - superfamily_WD40 repeat-like,superfamily_ARM repeat RASGRP4 115727 genome.wustl.edu 37 19 38901579 38901579 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_170604.2 -1 reviewed p.R638C 0.001 104 0% 127 48% 0 - benign(0.179) tolerated(0.14) neutral(0.266) NULL LGALS14 56891 genome.wustl.edu 37 19 40199884 40199884 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_203471.1 +1 reviewed p.P146 0.003 82 1.2% 111 45.9% 0 - - - - HMMPfam_Gal-bind_lectin,HMMSmart_GLECT,superfamily_ConA_like_lec_gl FCGBP 8857 genome.wustl.edu 37 19 40392711 40392711 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_003890.2 -1 validated p.P2598H 0.000 54 0% 92 25% 19 52.6% unknown(0) tolerated(0.22) - HMMPfam_VWD,HMMSmart_VWD FCGBP 8857 genome.wustl.edu 37 19 40411823 40411823 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_003890.2 -1 validated p.D1269N 0.994 29 0% 38 39.5% 7 0% probably_damaging(0.999) tolerated(0.6) deleterious(0.495) HMMPfam_VWD,HMMSmart_VWD ZNF780B 163131 genome.wustl.edu 37 19 40542425 40542425 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001005851.2 -1 validated p.E114A 0.000 175 0% 192 40.1% 0 - possibly_damaging(0.473) tolerated(0.33) neutral(0.180) NULL ATP1A3 478 genome.wustl.edu 37 19 42471849 42471849 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_152296.3 -1 reviewed p.P962 0.095 22 0% 17 70.6% 1 0% - - - HMMPfam_Cation_ATPase_C,superfamily_SSF81665 PSG9 5678 genome.wustl.edu 37 19 43762464 43762464 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002784.3 -1 validated p.K378T 0.001 296 0% 400 42.7% 0 - benign(0) tolerated(0.35) neutral(0.021) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin ZNF229 7772 genome.wustl.edu 37 19 44934315 44934315 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_014518.2 -1 validated p.K214T 0.001 94 0% 137 39.4% 0 - benign(0.35) tolerated(0.44) neutral(0.123) NULL PPM1N 147699 genome.wustl.edu 37 19 46003729 46003729 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001080401.1 +1 provisional p.A358V 0.692 25 0% 37 54.1% 0 - probably_damaging(0.98) tolerated(0.18) deleterious(0.480) HMMPfam_PP2C_C,superfamily_Protein serine/threonine phosphatase 2C C-terminal domain GIPR 2696 genome.wustl.edu 37 19 46176122 46176122 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000164.2 +1 validated p.F98 0.839 169 0% 188 43.1% 0 - - - - HMMPfam_HRM,HMMSmart_SM00008,superfamily_Hormone receptor domain (HRM Pfam 02793) ARHGAP35 2909 genome.wustl.edu 37 19 47424921 47424921 + Nonsense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_004491.4 +1 reviewed p.R997* 1.000 26 0% 50 42% 2 0% - - - NULL GPR77 27202 genome.wustl.edu 37 19 47844846 47844846 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_018485.1 +1 provisional p.A264T 0.000 22 0% 14 35.7% 0 - benign(0) tolerated(0.51) neutral(0.009) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CCDC114 93233 genome.wustl.edu 37 19 48801292 48801292 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_144577.3 -1 validated p.P452 0.000 22 0% 16 56.2% 20 45% - - - NULL NUCB1 4924 genome.wustl.edu 37 19 49414486 49414486 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_006184.5 +1 reviewed p.D153N 1.000 45 0% 68 50% 152 42.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL GYS1 2997 genome.wustl.edu 37 19 49485596 49485596 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002103.4 -1 reviewed p.F326L 1.000 56 0% 70 38.6% 14 35.7% benign(0.002) deleterious(0) neutral(0.445) HMMPfam_Glycogen_syn,superfamily_SSF53756 ZNF473 25888 genome.wustl.edu 37 19 50549052 50549052 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001006656.1 +1 validated p.R451Q 0.933 51 0% 56 32.1% 7 14.2% probably_damaging(0.999) tolerated(0.14) deleterious(0.740) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SYT3 84258 genome.wustl.edu 37 19 51129177 51129177 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_032298.2 -1 validated p.A460V 1.000 44 0% 65 40% 1 0% probably_damaging(0.955) deleterious(0) deleterious(0.843) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB SIGLEC8 27181 genome.wustl.edu 37 19 51961273 51961273 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_014442.2 -1 validated p.F123L 0.000 130 0% 167 46.1% 0 - benign(0.338) deleterious(0.03) deleterious(0.471) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin SIGLEC6 946 genome.wustl.edu 37 19 52034477 52034477 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001245.5 -1 validated p.R122W 0.000 81 0% 84 44% 0 - probably_damaging(0.972) deleterious(0.02) deleterious(0.797) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin ZNF649 65251 genome.wustl.edu 37 19 52394376 52394376 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_023074.3 -1 validated p.R338Q 0.984 180 0.6% 210 51.4% 32 37.5% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF649 65251 genome.wustl.edu 37 19 52394460 52394460 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_023074.3 -1 validated p.R310Q 0.014 174 0.6% 203 44.8% 22 40.9% probably_damaging(0.992) deleterious(0.02) deleterious(0.831) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF578 147660 genome.wustl.edu 37 19 53014218 53014218 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001099694.1 +1 validated p.R195I 0.208 154 0% 250 42% 0 - possibly_damaging(0.696) tolerated(0.12) deleterious(0.510) NULL ZNF578 147660 genome.wustl.edu 37 19 53014466 53014466 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001099694.1 +1 validated p.R278C 0.032 122 0% 201 46.3% 0 - unknown(0) tolerated(0.07) - HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF578 147660 genome.wustl.edu 37 19 53015124 53015124 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001099694.1 +1 validated p.S497Y 0.000 72 0% 120 45.8% 1 0% benign(0.011) tolerated(0.12) neutral(0.261) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF808 388558 genome.wustl.edu 37 19 53056799 53056799 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001039886.3 +1 validated p.N210K 0.000 338 0% 428 43.5% 0 - benign(0.067) tolerated(1) neutral(0.004) NULL ENSG00000245932 0 genome.wustl.edu 37 19 53302457 53302457 + RNA SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000500436 +1 known NULL 0.804 50 0% 71 46.5% 0 - - - - - ZNF320 162967 genome.wustl.edu 37 19 53384119 53384119 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_207333.2 -1 validated p.K420N 0.002 129 0% 211 45% 7 71.4% possibly_damaging(0.825) deleterious(0) deleterious(0.757) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF677 342926 genome.wustl.edu 37 19 53741032 53741032 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_182609.2 -1 provisional p.E316 1.000 147 0% 198 40.4% 0 - - - - superfamily_SSF57667 DPRX 503834 genome.wustl.edu 37 19 54137909 54137909 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001012728.1 +1 validated p.S51 0.048 113 0% 181 46.4% 0 - - - - HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like,PatternScan_HOMEOBOX_1 NCR1 9437 genome.wustl.edu 37 19 55424096 55424096 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_004829.5 +1 validated p.R258W 0.000 89 0% 103 50.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL NLRP13 126204 genome.wustl.edu 37 19 56423388 56423388 + Nonsense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_176810.2 -1 validated p.E599* 0.059 145 0% 201 47.8% 0 - - - - NULL NLRP5 126206 genome.wustl.edu 37 19 56511153 56511153 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_153447.4 +1 reviewed p.A21V 0.002 70 0% 127 42.5% 0 - unknown(0) deleterious(0) - NULL ZFP28 140612 genome.wustl.edu 37 19 57065632 57065632 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_020828.1 +1 provisional p.R493H 0.002 82 0% 106 40.6% 1 0% probably_damaging(0.999) tolerated(0.08) deleterious(0.790) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF470 388566 genome.wustl.edu 37 19 57088624 57088624 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001001668.3 +1 validated p.R276I 1.000 92 0% 111 50.5% 2 0% probably_damaging(0.999) tolerated(0.08) deleterious(0.790) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 USP29 57663 genome.wustl.edu 37 19 57640286 57640286 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_020903.2 +1 validated p.F81L 0.010 90 0% 114 46.5% 0 - benign(0.424) tolerated(0.33) neutral(0.162) NULL ZNF264 9422 genome.wustl.edu 37 19 57723746 57723746 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_003417.4 +1 reviewed p.F427 0.004 73 0% 97 50.5% 0 - - - - HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF606 80095 genome.wustl.edu 37 19 58490369 58490369 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_025027.3 -1 validated p.R560I 1.000 108 0.9% 125 36.8% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF132 7691 genome.wustl.edu 37 19 58944929 58944929 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_003433.3 -1 validated p.E628K 0.002 104 1% 154 40.9% 0 - probably_damaging(0.974) tolerated(0.77) neutral(0.417) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers DEFB125 245938 genome.wustl.edu 37 20 76780 76780 + Missense_Mutation SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_153325.2 +1 reviewed p.T65A 0.002 110 0% 180 43.3% 0 - possibly_damaging(0.93) deleterious(0.04) deleterious(0.726) NULL C20orf96 140680 genome.wustl.edu 37 20 256619 256619 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_153269.1 -1 predicted p.R341W 1.000 84 0% 105 48.6% 95 37.8% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL FASTKD5 60493 genome.wustl.edu 37 20 3127597 3127597 + Missense_Mutation SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_021826.4 -1 validated p.Y707C 1.000 82 0% 95 47.4% 22 36.3% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_RAP C20orf194 25943 genome.wustl.edu 37 20 3356833 3356833 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001009984.1 -1 validated p.E134K 0.998 288 0% 399 48.4% 0 - probably_damaging(0.954) deleterious(0.01) deleterious(0.803) NULL RASSF2 9770 genome.wustl.edu 37 20 4764962 4764962 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_014737.2 -1 reviewed p.R313Q 0.979 97 0% 89 40.4% 0 - benign(0.001) tolerated(0.61) neutral(0.004) NULL LRRN4 164312 genome.wustl.edu 37 20 6025204 6025204 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_152611.3 -1 validated p.R328I 0.014 39 0% 57 50.9% 4 50% probably_damaging(0.991) deleterious(0.03) deleterious(0.808) NULL PLCB1 23236 genome.wustl.edu 37 20 8862337 8862337 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_015192.2 +1 reviewed p.F1164 0.114 115 0% 129 42.6% 1 100% - - - HMMPfam_PLC-beta_C JAG1 182 genome.wustl.edu 37 20 10624465 10624465 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000214.2 -1 reviewed p.E807K 1.000 31 0% 47 48.9% 69 23.1% probably_damaging(0.998) tolerated(0.13) deleterious(0.727) PatternScan_ASX_HYDROXYL,HMMSmart_EGF_CA,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_SSF57196 XRN2 22803 genome.wustl.edu 37 20 21306923 21306923 + Nonsense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_012255.3 +1 reviewed p.E28* 1.000 121 0% 188 43.1% 13 23% - - - HMMPfam_XRN_N CST2 1470 genome.wustl.edu 37 20 23804713 23804713 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001322.2 -1 reviewed p.E124K 0.000 120 0% 156 53.8% 0 - probably_damaging(0.999) tolerated(0.73) deleterious(0.492) HMMPfam_Cystatin,HMMSmart_CY,superfamily_SSF54403 TPX2 22974 genome.wustl.edu 37 20 30381810 30381810 + Nonsense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_012112.4 +1 validated p.E557* 1.000 184 0% 235 40.4% 6 0% - - - NULL BPIFB6 128859 genome.wustl.edu 37 20 31625521 31625521 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_174897.2 +1 validated p.H275N 0.007 17 0% 12 41.7% 0 - benign(0) tolerated(0.19) neutral(0.050) HMMSmart_BPI2,superfamily_Bactericidal_perm-incr_a/b_dom EIF2S2 8894 genome.wustl.edu 37 20 32681530 32681530 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_003908.3 -1 reviewed p.R231C 1.000 140 0.7% 161 39.8% 19 36.8% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_eIF-5_eIF-2B,HMMSmart_SM00653,superfamily_Translation initiation factor 2 beta aIF2beta N-terminal domain TTI1 9675 genome.wustl.edu 37 20 36642112 36642112 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_014657.1 -1 predicted p.R36Q 0.225 23 0% 33 45.5% 6 33.3% benign(0.001) tolerated(0.5) neutral(0.010) superfamily_ARM-type_fold PPP1R16B 26051 genome.wustl.edu 37 20 37536698 37536698 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000438192 +1 known p.R253Q 0.672 42 0% 40 45% 0 - - - - NULL MYBL2 4605 genome.wustl.edu 37 20 42340188 42340188 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002466.2 +1 reviewed p.E556K 1.000 46 0% 53 39.6% 57 57.8% probably_damaging(0.959) deleterious(0.01) deleterious(0.808) HMMPfam_Cmyb_C SEMG2 6407 genome.wustl.edu 37 20 43850418 43850418 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_003008.2 +1 reviewed p.F49V 0.001 159 0% 227 42.7% 0 - benign(0.055) tolerated(0.26) neutral(0.038) HMMPfam_Semenogelin SLC12A5 57468 genome.wustl.edu 37 20 44671793 44671793 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001134771.1 +1 reviewed p.E379D 1.000 47 0% 42 14.3% 0 - benign(0.001) tolerated(0.71) neutral(0.002) HMMPfam_AA_permease FAM209B 388799 genome.wustl.edu 37 20 55111265 55111265 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001013646.2 +1 predicted p.R96H 0.024 72 0% 81 46.9% 0 - benign(0) tolerated(0.15) neutral(0.241) NULL CTCFL 140690 genome.wustl.edu 37 20 56094425 56094425 + Nonsense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_080618.2 -1 reviewed p.G255* 0.006 70 0% 84 21.4% 2 0% - - - NULL TAF4 6874 genome.wustl.edu 37 20 60584200 60584200 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_003185.3 -1 reviewed p.N598H 1.000 130 0% 142 47.2% 3 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_TAFH,HMMSmart_TAFH HRH3 11255 genome.wustl.edu 37 20 60793589 60793589 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_007232.2 -1 validated p.I125 0.986 5 0.000 11 0.818 0 - - - - HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like EEF1A2 1917 genome.wustl.edu 37 20 62129020 62129020 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001958.2 -1 reviewed p.G33S 1.000 99 0% 109 33% 1 100% possibly_damaging(0.817) deleterious(0) deleterious(0.754) HMMPfam_GTP_EFTU,superfamily_P-loop containing nucleoside triphosphate hydrolases TPTE 7179 genome.wustl.edu 37 21 10916378 10916378 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_199261.2 -1 validated p.S423L 0.790 242 0% 329 18.5% 0 - probably_damaging(0.975) deleterious(0.04) deleterious(0.766) superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 CXADR 1525 genome.wustl.edu 37 21 18919424 18919424 + Nonsense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001338.3 +1 reviewed p.C41* 1.000 72 0% 105 44.8% 9 22.2% - - - HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin ADAMTS1 9510 genome.wustl.edu 37 21 28214981 28214981 + Nonsense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_006988.3 -1 reviewed p.R252* 1.000 17 0% 27 37% 12 16.6% - - - NULL BACH1 571 genome.wustl.edu 37 21 30701851 30701851 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001186.2 +1 reviewed p.R538Q 1.000 167 0% 196 48.5% 7 71.4% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_A DNA-binding domain in eukaryotic transcription factors KRTAP24-1 643803 genome.wustl.edu 37 21 31654544 31654544 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001085455.1 -1 validated p.S236N 0.957 119 0% 133 42.1% 0 - benign(0.119) - - NULL KRTAP27-1 643812 genome.wustl.edu 37 21 31709534 31709534 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001077711.1 -1 provisional p.F151 0.135 78 0% 116 47.4% 0 - - - - HMMPfam_PMG CHAF1B 8208 genome.wustl.edu 37 21 37769720 37769720 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_005441.2 +1 reviewed p.K163N 0.992 78 0% 95 38.9% 2 50% possibly_damaging(0.484) tolerated(0.45) neutral(0.173) HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 ETS2 2114 genome.wustl.edu 37 21 40191467 40191467 + Missense_Mutation SNP C C G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_005239.4 +1 validated p.D284E 1.000 51 0% 55 45.5% 180 41.1% benign(0.002) tolerated(1) - NULL HMGN1 3150 genome.wustl.edu 37 21 40715055 40715055 + Nonsense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_004965.6 -1 reviewed p.E96* 1.000 82 0% 131 41.2% 253 46.2% - - - HMMPfam_HMG14_17 IGSF5 150084 genome.wustl.edu 37 21 41151132 41151132 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001080444.1 +1 provisional p.T278 0.490 147 0% 132 51.5% 0 - - - - NULL CBS 875 genome.wustl.edu 37 21 44488683 44488683 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000071.2 -1 reviewed p.I84 0.793 100 0% 141 39.7% 4 25% - - - HMMPfam_PALP,superfamily_Tryptophan synthase beta subunit-like PLP-dependent enzymes TSPEAR 54084 genome.wustl.edu 37 21 45950960 45950960 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_144991.2 -1 provisional p.V200G 0.996 30 0% 30 46.7% 0 - possibly_damaging(0.816) deleterious(0) deleterious(0.753) HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases LOC100288508 100288508 genome.wustl.edu 37 21 47545416 47545416 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 XM_002343757.1 -1 model p.E365K 1.000 17 0% 23 26.1% 443 0.2% - - - NULL PCNT 5116 genome.wustl.edu 37 21 47831165 47831165 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_006031.5 +1 reviewed p.E1726D 0.998 38 0% 57 33.3% 0 - probably_damaging(0.987) tolerated(0.18) deleterious(0.492) NULL DGCR6 8214 genome.wustl.edu 37 22 18897736 18897736 + Missense_Mutation SNP G G C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_005675.4 +1 reviewed p.R108P 1.000 12 0.000 8 0.750 9 11.1% possibly_damaging(0.922) deleterious(0.01) deleterious(0.777) HMMPfam_DGCR6 CLTCL1 8218 genome.wustl.edu 37 22 19263299 19263299 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_007098.3 -1 reviewed p.E33K 1.000 72 0% 93 55.9% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_Clathrin_propel,superfamily_Clathrin heavy-chain terminal domain IGLV3-25 28793 genome.wustl.edu 37 22 23029638 23029638 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000390305 +1 known p.F80L 1.000 56 0% 71 43.7% 21 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin MYO18B 84700 genome.wustl.edu 37 22 26422565 26422565 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_032608.5 +1 reviewed p.E2209K 0.001 18 0% 17 52.9% 2 0% benign(0.139) deleterious(0.01) neutral(0.418) NULL RFPL1 5988 genome.wustl.edu 37 22 29835041 29835041 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_021026.2 +1 validated p.K87N 0.005 198 0% 246 44.7% 0 - possibly_damaging(0.902) tolerated(0.1) deleterious(0.643) superfamily_SSF57850 ASCC2 84164 genome.wustl.edu 37 22 30209515 30209515 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_032204.3 -1 provisional p.V246G 0.924 84 0% 141 34.8% 16 62.5% possibly_damaging(0.888) deleterious(0) deleterious(0.792) NULL MTMR3 8897 genome.wustl.edu 37 22 30374480 30374480 + Missense_Mutation SNP T T A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_021090.3 +1 reviewed p.F18Y 1.000 53 0% 75 41.3% 1 0% possibly_damaging(0.94) tolerated(0.33) neutral(0.409) NULL SEC14L4 284904 genome.wustl.edu 37 22 30890140 30890140 + Nonsense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_174977.3 -1 reviewed p.R193* 0.941 145 0% 185 47% 0 - - - - HMMPfam_CRAL_TRIO,HMMSmart_SM00516,superfamily_CRAL/TRIO domain PRR14L 253143 genome.wustl.edu 37 22 32110240 32110240 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_173566.2 -1 validated p.E1195D 0.001 246 0% 377 45.9% 0 - possibly_damaging(0.602) tolerated(0.33) neutral(0.232) NULL SYN3 8224 genome.wustl.edu 37 22 33376684 33376684 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_003490.3 -1 reviewed p.S105 0.583 124 0% 170 45.3% 0 - - - - HMMPfam_Synapsin,superfamily_PreATP-grasp domain TNRC6B 23112 genome.wustl.edu 37 22 40677281 40677281 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000454349 +1 known p.F1204 1.000 107 0% 129 45.7% 0 - - - - NULL TNRC6B 23112 genome.wustl.edu 37 22 40711975 40711975 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_015088.2 +1 validated p.R1535C 1.000 242 0% 390 44.4% 23 30.4% possibly_damaging(0.733) deleterious(0) deleterious(0.713) superfamily_SSF54928 XPNPEP3 63929 genome.wustl.edu 37 22 41322325 41322325 + Silent SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_022098.2 +1 validated p.L470 0.855 115 0% 147 46.3% 6 33.3% - - - HMMPfam_Peptidase_M24,superfamily_Creatinase/aminopeptidase ACO2 50 genome.wustl.edu 37 22 41907902 41907902 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001098.2 +1 reviewed p.N152T 1.000 55 0% 107 37.4% 9 33.3% benign(0) deleterious(0) neutral(0.445) HMMPfam_Aconitase,superfamily_Aconitase_N MEI1 150365 genome.wustl.edu 37 22 42141899 42141899 + Nonsense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_152513.3 +1 validated p.E517* 1.000 70 0% 83 50.6% 0 - - - - superfamily_ARM repeat MEI1 150365 genome.wustl.edu 37 22 42180645 42180645 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_152513.3 +1 validated p.R1068Q 0.967 27 0% 27 40.7% 1 100% benign(0.006) tolerated(1) - NULL EFCAB6 64800 genome.wustl.edu 37 22 44107498 44107498 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_022785.2 -1 validated p.S296 0.000 103 0% 119 40.3% 0 - - - - superfamily_EF-hand BRD1 23774 genome.wustl.edu 37 22 50169321 50169321 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_014577.1 -1 reviewed p.V971M 1.000 30 0% 46 41.3% 72 37.5% unknown(0) deleterious(0) - HMMSmart_PWWP,superfamily_SSF63748 MOV10L1 54456 genome.wustl.edu 37 22 50598125 50598125 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_018995.2 +1 reviewed p.L1079I 1.000 210 0% 282 40.4% 0 - probably_damaging(1) tolerated(0.14) deleterious(0.750) superfamily_P-loop containing nucleoside triphosphate hydrolases ARSF 416 genome.wustl.edu 37 X 3028230 3028230 + Nonsense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_004042.3 +1 reviewed p.E443* 1.000 34 0% 39 41% 0 - - - - HMMPfam_Sulfatase,superfamily_Alkaline phosphatase-like CLCN4 1183 genome.wustl.edu 37 X 10176253 10176253 + Missense_Mutation SNP C C G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001830.3 +1 reviewed p.L338V 1.000 60 0% 63 47.6% 1 0% possibly_damaging(0.575) deleterious(0.03) deleterious(0.561) HMMPfam_Voltage_CLC,superfamily_Clc chloride channel MSL3 10943 genome.wustl.edu 37 X 11778571 11778571 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_078629.2 +1 reviewed p.N79H 1.000 119 0% 163 44.2% 9 0% possibly_damaging(0.862) deleterious(0.04) deleterious(0.682) HMMSmart_SM00298,HMMPfam_MRG TLR8 51311 genome.wustl.edu 37 X 12938465 12938465 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_138636.4 +1 reviewed p.D436Y 0.000 81 0% 89 46.1% 0 - possibly_damaging(0.942) deleterious(0.02) deleterious(0.770) NULL TCEANC 170082 genome.wustl.edu 37 X 13681454 13681454 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_152634.2 +1 validated p.S306Y 0.019 46 0% 56 17.9% 0 - probably_damaging(0.956) deleterious(0.02) deleterious(0.782) HMMPfam_TFIIS_M FANCB 2187 genome.wustl.edu 37 X 14882997 14882997 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001018113.1 -1 reviewed p.F212L 0.026 119 0% 144 39.6% 0 - possibly_damaging(0.653) tolerated(0.42) neutral(0.244) NULL ASB9 140462 genome.wustl.edu 37 X 15287989 15287989 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001031739.2 -1 reviewed p.G3D 0.000 86 0% 74 56.8% 3 100% benign(0.001) tolerated(0.09) neutral(0.296) NULL BMX 660 genome.wustl.edu 37 X 15564972 15564972 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001721.6 +1 reviewed p.P575T 1.000 250 0% 320 42.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like RBBP7 5931 genome.wustl.edu 37 X 16871942 16871942 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002893.3 -1 reviewed p.N207 0.446 167 0.6% 205 39.5% 289 0% - - - superfamily_WD40 repeat-like MAP7D2 256714 genome.wustl.edu 37 X 20033442 20033442 + Nonsense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_152780.3 -1 validated p.E509* 1.000 180 0% 228 53.9% 0 - - - - HMMPfam_MAP7 DDX53 168400 genome.wustl.edu 37 X 23019031 23019031 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_182699.2 +1 validated p.S286F 0.001 63 0% 71 38% 0 - possibly_damaging(0.753) deleterious(0.04) deleterious(0.625) HMMPfam_DEAD,HMMSmart_DEXDc,superfamily_SSF52540 POLA1 5422 genome.wustl.edu 37 X 24861700 24861700 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_016937.3 +1 reviewed p.N1312T 0.991 181 0% 273 41.4% 19 0% benign(0.088) deleterious(0.03) neutral(0.371) HMMPfam_zf-DNA_Pol LOC392435 392435 genome.wustl.edu 37 X 27850965 27850965 + Nonsense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 XM_002343800.1 +1 model p.Q213* 0.177 12 0% 12 58.3% 0 - - - - HMMPfam_MAGE DMD 1756 genome.wustl.edu 37 X 32466719 32466719 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_004006.2 -1 reviewed p.V1214L 1.000 252 0% 303 43.9% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat CXorf30 645090 genome.wustl.edu 37 X 36319284 36319284 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001098843.3 +1 validated p.D100N 1.000 161 0% 252 42.1% 1 100% probably_damaging(0.999) tolerated(0.14) deleterious(0.740) NULL CYBB 1536 genome.wustl.edu 37 X 37670099 37670099 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000397.3 +1 reviewed p.K548Q 1.000 105 0% 133 51.1% 0 - benign(0.419) tolerated(0.21) neutral(0.180) HMMPfam_NAD_binding_6,superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain SYTL5 94122 genome.wustl.edu 37 X 37984741 37984741 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_138780.2 +1 reviewed p.R678C 1.000 108 0% 170 37.6% 0 - probably_damaging(0.996) tolerated(0.08) deleterious(0.762) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB ZNF157 7712 genome.wustl.edu 37 X 47270091 47270091 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_003446.3 +1 reviewed p.A71D 0.938 76 0% 127 48% 0 - possibly_damaging(0.638) tolerated(0.16) neutral(0.283) HMMSmart_KRAB,superfamily_Krueppel-associated_box CFP 5199 genome.wustl.edu 37 X 47486647 47486647 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001145252.1 -1 reviewed p.R220Q 0.960 68 1.5% 60 60% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1 UXT 8409 genome.wustl.edu 37 X 47517100 47517100 + Silent SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000376964 -1 known p.Q87 0.170 110 0% 161 41% 0 - - - - NULL SSX5 6758 genome.wustl.edu 37 X 48051744 48051744 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000403001 -1 known p.R25I 0.000 269 0% 389 41.9% 0 - possibly_damaging(0.811) deleterious(0) deleterious(0.750) NULL TBC1D25 4943 genome.wustl.edu 37 X 48417609 48417609 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002536.2 +1 validated p.P194S 1.000 69 0% 71 56.3% 19 0% possibly_damaging(0.771) deleterious(0.01) deleterious(0.692) NULL WDR13 64743 genome.wustl.edu 37 X 48458718 48458718 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_017883.4 +1 reviewed p.R179C 1.000 15 0% 12 50% 923 0% possibly_damaging(0.906) deleterious(0) deleterious(0.804) HMMSmart_SM00320,superfamily_WD40 repeat-like TIMM17B 10245 genome.wustl.edu 37 X 48751501 48751501 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_005834.3 -1 reviewed p.F66 0.987 38 0% 68 41.2% 234 0% - - - HMMPfam_Tim17 PQBP1 10084 genome.wustl.edu 37 X 48759872 48759872 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000376548 +1 known p.D219Y 0.000 35 0% 34 41.2% 7 0% - - - NULL OTUD5 55593 genome.wustl.edu 37 X 48783167 48783167 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_017602.3 -1 reviewed p.R412W 0.995 101 0% 109 42.2% 56 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CLCN5 1184 genome.wustl.edu 37 X 49851137 49851137 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001127898.1 +1 reviewed p.L389 0.082 158 0.6% 207 43% 2 100% - - - HMMPfam_Voltage_CLC,superfamily_Clc chloride channel SPANXN5 494197 genome.wustl.edu 37 X 52825633 52825633 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001009616.2 -1 validated p.P38 0.044 427 0% 614 43.2% 0 - - - - HMMPfam_SPAN-X HUWE1 10075 genome.wustl.edu 37 X 53595725 53595725 + Missense_Mutation SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_031407.4 -1 reviewed p.I2212V 1.000 140 0% 197 49.2% 22 0% benign(0.386) deleterious(0.03) deleterious(0.488) superfamily_ARM repeat WNK3 65267 genome.wustl.edu 37 X 54263373 54263373 + Silent SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_020922.4 -1 reviewed p.E1542 1.000 105 0% 140 40% 1 0% - - - NULL UBQLN2 29978 genome.wustl.edu 37 X 56590893 56590893 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_013444.3 +1 reviewed p.S196L 1.000 70 1.4% 77 29.9% 8 0% probably_damaging(0.959) deleterious(0) deleterious(0.847) HMMSmart_SM00727 RAB41 347517 genome.wustl.edu 37 X 69502190 69502190 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001032726.2 +1 reviewed p.S41 0.007 155 0% 213 49.3% 0 - - - - HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases PDZD11 51248 genome.wustl.edu 37 X 69506958 69506958 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_016484.4 -1 validated p.R133C 1.000 122 0% 126 40.5% 109 0% possibly_damaging(0.85) deleterious(0) deleterious(0.772) NULL GDPD2 54857 genome.wustl.edu 37 X 69645920 69645920 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_017711.3 +1 reviewed p.R108W 0.710 124 0% 142 42.3% 0 - benign(0) deleterious(0.02) neutral(0.383) NULL DLG3 1741 genome.wustl.edu 37 X 69670545 69670545 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_021120.3 +1 reviewed p.K299 1.000 34 0% 54 40.7% 0 - - - - HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like TAF1 6872 genome.wustl.edu 37 X 70595062 70595062 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_004606.3 +1 reviewed p.C153F 1.000 371 0% 508 42.1% 1 0% benign(0) tolerated(0.05) neutral(0.345) NULL TAF1 6872 genome.wustl.edu 37 X 70612782 70612782 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_004606.3 +1 reviewed p.R1017C 1.000 223 0.4% 297 41.8% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL NHSL2 340527 genome.wustl.edu 37 X 71359377 71359377 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001013627.2 +1 provisional p.G294V 1.000 38 0% 48 54.2% 2 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL ATRX 546 genome.wustl.edu 37 X 76829736 76829736 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000489.3 -1 reviewed p.F2102C 1.000 266 0% 371 46.1% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases MAGT1 84061 genome.wustl.edu 37 X 77150841 77150841 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_032121.5 -1 reviewed p.D55N 0.001 64 0% 78 55.1% 27 0% benign(0.009) tolerated(0.63) neutral(0.004) HMMPfam_OST3_OST6 CYSLTR1 10800 genome.wustl.edu 37 X 77528660 77528660 + Missense_Mutation SNP A A C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_006639.2 -1 reviewed p.F195C 0.963 141 0% 198 46.5% 0 - benign(0.055) deleterious(0.01) neutral(0.409) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like P2RY10 27334 genome.wustl.edu 37 X 78216325 78216325 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_014499.2 +1 reviewed p.R103I 0.000 137 0% 153 54.9% 0 - benign(0.314) tolerated(0.17) neutral(0.157) HMMPfam_7tm_1,superfamily_SSF81321 GPR174 84636 genome.wustl.edu 37 X 78426783 78426783 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_032553.1 +1 validated p.F93 0.998 158 0% 188 37.8% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 BRWD3 254065 genome.wustl.edu 37 X 79999581 79999581 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_153252.4 -1 reviewed p.A255S 1.000 109 0% 125 38.4% 0 - probably_damaging(0.995) tolerated(0.23) deleterious(0.499) HMMSmart_SM00320,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,HMMPfam_WD40 POU3F4 5456 genome.wustl.edu 37 X 82764246 82764246 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000307.3 +1 reviewed p.A305V 1.000 14 0% 24 50% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like DACH2 117154 genome.wustl.edu 37 X 85404096 85404096 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_053281.3 +1 reviewed p.D158N 1.000 53 0% 37 37.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ski_Sno,superfamily_Putative DNA-binding domain KLHL4 56062 genome.wustl.edu 37 X 86887422 86887422 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_057162.2 +1 reviewed p.R513W 1.000 162 0% 228 47.4% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain DIAPH2 1730 genome.wustl.edu 37 X 96684721 96684721 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_006729.4 +1 reviewed p.R1073Q 1.000 128 0% 150 45.3% 1 0% probably_damaging(1) tolerated(0.05) deleterious(0.845) NULL PCDH19 57526 genome.wustl.edu 37 X 99663214 99663214 + Missense_Mutation SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001105243.1 -1 reviewed p.S128G 1.000 63 0% 40 35% 6 0% benign(0.205) tolerated(0.06) neutral(0.343) superfamily_Cadherin XKRX 402415 genome.wustl.edu 37 X 100183177 100183177 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_212559.2 -1 reviewed p.F52L 1.000 124 0% 194 42.3% 0 - possibly_damaging(0.945) tolerated(0.77) neutral(0.391) NULL BHLHB9 80823 genome.wustl.edu 37 X 102005452 102005452 + Missense_Mutation SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001142524.1 +1 validated p.F510S 1.000 159 0% 201 49.3% 0 - possibly_damaging(0.839) deleterious(0) deleterious(0.765) HMMPfam_DUF634,superfamily_ARM-type_fold GLRA4 441509 genome.wustl.edu 37 X 102979043 102979043 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001024452.2 -1 validated p.R153C 1.000 97 0% 129 45.7% 0 - probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like MID2 11043 genome.wustl.edu 37 X 107084209 107084209 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_012216.3 +1 reviewed p.R105H 1.000 39 0% 49 55.1% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_RING/U-box IRS4 8471 genome.wustl.edu 37 X 107976744 107976744 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_003604.2 -1 reviewed p.S944L 0.001 175 0% 268 48.5% 0 - benign(0.002) deleterious(0.01) neutral(0.406) NULL IRS4 8471 genome.wustl.edu 37 X 107979287 107979287 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_003604.2 -1 reviewed p.F96 1.000 13 0.000 9 0.556 0 - - - - HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 LOC203510 203510 genome.wustl.edu 37 X 111933439 111933439 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 XM_001723892.1 +1 model p.F99L 1.000 14 0% 20 55% 0 - - - - HMMPfam_HMG_box,HMMSmart_SM00398,superfamily_HMG-box LOC286528 286528 genome.wustl.edu 37 X 113625521 113625521 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 XM_210501.3 +1 model p.R132Q 1.000 20 0% 38 42.1% 0 - - - - HMMPfam_Ssu72 IL13RA2 3598 genome.wustl.edu 37 X 114242567 114242567 + Missense_Mutation SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000640.2 -1 reviewed p.R309G 0.987 535 0% 760 45.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_FN_III-like LRCH2 57631 genome.wustl.edu 37 X 114357648 114357648 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_020871.3 -1 validated p.R653C 1.000 284 0% 324 46.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CH,HMMSmart_CH,superfamily_Calponin-homology DOCK11 139818 genome.wustl.edu 37 X 117714128 117714128 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_144658.3 +1 validated p.F527 1.000 109 0% 103 12.6% 2 0% - - - NULL KIAA1210 57481 genome.wustl.edu 37 X 118215299 118215299 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_020721.1 -1 validated p.T1708M 0.000 125 0% 135 41.5% 0 - benign(0.009) tolerated(0.34) neutral(0.024) NULL KIAA1210 57481 genome.wustl.edu 37 X 118220782 118220782 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_020721.1 -1 validated p.D1471Y 0.000 150 0% 160 35% 0 - probably_damaging(0.982) - - NULL SEPT6 23157 genome.wustl.edu 37 X 118763445 118763445 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_015129.5 -1 reviewed p.K372 1.000 185 0% 286 44.8% 2 0% - - - NULL UPF3B 65109 genome.wustl.edu 37 X 118975122 118975122 + Nonsense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_080632.1 -1 reviewed p.R242* 1.000 822 0% 1222 42.6% 0 - - - - NULL RHOXF2B 727940 genome.wustl.edu 37 X 119209878 119209878 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001099685.1 -1 provisional p.E175A 0.004 271 0% 379 25.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like,PatternScan_HOMEOBOX_1 ZBTB33 10009 genome.wustl.edu 37 X 119388859 119388859 + Missense_Mutation SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_006777.3 +1 reviewed p.V530A 1.000 77 0% 97 55.7% 6 0% probably_damaging(1) deleterious(0.04) deleterious(0.849) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CUL4B 8450 genome.wustl.edu 37 X 119691832 119691832 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_003588.3 -1 reviewed p.E225K 1.000 558 0% 666 42.9% 0 - benign(0) tolerated(0.87) neutral(0.001) HMMPfam_Cullin,superfamily_Cullin repeat THOC2 57187 genome.wustl.edu 37 X 122846745 122846745 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001081550.1 -1 validated p.R29W 0.999 247 0% 328 40.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ODZ1 10178 genome.wustl.edu 37 X 123554194 123554194 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_014253.3 -1 reviewed p.K1643T 1.000 66 0% 92 43.5% 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_RHS_repeat,superfamily_N2O_reductase_N ODZ1 10178 genome.wustl.edu 37 X 123870939 123870939 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_014253.3 -1 reviewed p.S215F 1.000 118 0% 128 44.5% 0 - benign(0.002) deleterious(0) neutral(0.445) HMMPfam_Ten_N ACTRT1 139741 genome.wustl.edu 37 X 127185804 127185804 + Nonsense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_138289.3 -1 reviewed p.E128* 1.000 148 0% 169 49.1% 0 - - - - HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067 UTP14A 10813 genome.wustl.edu 37 X 129060041 129060041 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_006649.3 +1 reviewed p.G632 1.000 151 0% 231 43.7% 6 0% - - - HMMPfam_Utp14 ZNF280C 55609 genome.wustl.edu 37 X 129364607 129364607 + Missense_Mutation SNP T T G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_017666.4 -1 validated p.K289T 1.000 263 0% 365 41.9% 0 - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL USP26 83844 genome.wustl.edu 37 X 132160340 132160340 + Nonsense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_031907.1 -1 reviewed p.E637* 0.000 143 0% 231 38.1% 0 - - - - HMMPfam_UCH,superfamily_Cysteine proteinases GPC4 2239 genome.wustl.edu 37 X 132445386 132445386 + Silent SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001448.2 -1 reviewed p.G259 0.006 141 0% 182 19.2% 31 0% - - - HMMPfam_Glypican,PatternScan_GLYPICAN MIR363 574031 genome.wustl.edu 37 X 133303464 133303464 + RNA SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000384840 -1 known NULL 1.000 69 0% 95 46.3% 0 - - - - - LOC728470 728470 genome.wustl.edu 37 X 134326940 134326940 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 XM_002343844.1 -1 model p.S56 0.001 138 0.7% 171 43.3% 0 - - - - NULL MAP7D3 79649 genome.wustl.edu 37 X 135318441 135318441 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_024597.3 -1 reviewed p.S233L 0.001 326 0% 349 40.1% 1 0% benign(0.242) deleterious(0.04) neutral(0.373) NULL MCF2 4168 genome.wustl.edu 37 X 138699762 138699762 + Silent SNP T T C novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001099855.1 -1 reviewed p.L363 0.732 219 0% 322 39.4% 0 - - - - HMMSmart_SPEC,superfamily_Spectrin ATP11C 286410 genome.wustl.edu 37 X 138864759 138864759 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000422228 -1 known p.S188L 1.000 222 0% 284 46.1% 0 - - - - superfamily_Metal cation-transporting ATPase ATP-binding domain N CXorf66 347487 genome.wustl.edu 37 X 139038331 139038331 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001013403.2 -1 validated p.K270N 0.002 179 0% 266 44.7% 0 - possibly_damaging(0.45) deleterious(0) deleterious(0.592) NULL FMR1 2332 genome.wustl.edu 37 X 147014094 147014094 + Missense_Mutation SNP A A G novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_002024.5 +1 reviewed p.T261A 1.000 261 0% 358 45% 0 - probably_damaging(0.999) tolerated(0.07) deleterious(0.809) HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) FMR1NB 158521 genome.wustl.edu 37 X 147063029 147063029 + Missense_Mutation SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_152578.2 +1 validated p.S36L 0.000 44 0% 48 43.8% 0 - possibly_damaging(0.873) deleterious(0) deleterious(0.784) NULL IDS 3423 genome.wustl.edu 37 X 148579713 148579713 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000202.5 -1 reviewed p.K211N 1.000 92 0% 96 35.4% 16 81.2% benign(0.004) tolerated(0.29) neutral(0.029) HMMPfam_Sulfatase,superfamily_Alkaline phosphatase-like MTM1 4534 genome.wustl.edu 37 X 149783119 149783119 + Nonsense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000252.2 +1 reviewed p.G97* 1.000 252 0% 334 41% 0 - - - - HMMPfam_GRAM,HMMSmart_GRAM,superfamily_SSF50729 MAGEA12 4111 genome.wustl.edu 37 X 151900363 151900363 + Silent SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_005367.5 -1 reviewed p.F146 0.001 178 0% 236 41.1% 0 - - - - HMMPfam_MAGE FAM58A 92002 genome.wustl.edu 37 X 152861584 152861584 + Missense_Mutation SNP G G T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 ENST00000276345 -1 known p.F56L 1.000 158 0.6% 202 49% 28 82.1% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_CYCLIN,superfamily_Cyclin_like TKTL1 8277 genome.wustl.edu 37 X 153533757 153533757 + Missense_Mutation SNP G G A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_012253.3 +1 validated p.R79Q 1.000 96 0% 132 40.9% 0 - benign(0.001) deleterious(0.04) neutral(0.349) superfamily_Thiamin diphosphate-binding fold (THDP-binding) GAB3 139716 genome.wustl.edu 37 X 153908408 153908408 + Splice_Site SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_001081573.1 -1 reviewed e9+1 1.000 96 0% 129 38% 0 - - - - - F8 2157 genome.wustl.edu 37 X 154158405 154158405 + Missense_Mutation SNP C C A novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_000132.3 -1 reviewed p.K1220N 0.000 113 0% 117 44.4% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL VAMP7 6845 genome.wustl.edu 37 X 155119226 155119226 + Silent SNP C C T novel TCGA-D1-A16Y-01A-31D-A12J-09 TCGA-D1-A16Y-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c0fae6b8-c75f-42a7-938b-d49a0d0f1084 637928ed-51e9-4c55-9686-1747876acde0 NM_005638.4 +1 validated p.L33 1.000 338 0% 498 44.6% 14 0% - - - superfamily_SNARE-like