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 MORN1 79906 genome.wustl.edu 37 1 2319697 2319697 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e ENST00000378525 -1 known p.A38V 0.128 39 0% 18 44.4% 38 28.9% unknown(0) - - NULL CEP104 9731 genome.wustl.edu 37 1 3747747 3747747 + Missense_Mutation SNP T T A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_014704.3 -1 validated p.I567F 0.657 132 0% 138 37% 15 40% probably_damaging(0.98) deleterious(0) deleterious(0.869) superfamily_ARM repeat DNAJC11 55735 genome.wustl.edu 37 1 6714011 6714011 + Missense_Mutation SNP T T C novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_018198.3 -1 validated p.Q156R 1.000 166 0% 141 32.6% 27 25.9% benign(0.003) tolerated(0.8) neutral(0.001) NULL CA6 765 genome.wustl.edu 37 1 9027846 9027846 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001215.2 +1 reviewed p.A234T 0.000 115 0% 113 17.7% 0 - possibly_damaging(0.559) tolerated(0.41) neutral(0.206) HMMPfam_Carb_anhydrase,superfamily_Euk_COanhd APITD1 378708 genome.wustl.edu 37 1 10511634 10511636 + In_Frame_Del DEL CTT CTT - novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_198544.2 +1 reviewed p.F160in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_Somatostatin PTCHD2 57540 genome.wustl.edu 37 1 11561711 11561711 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_020780.1 +1 validated p.P221L 0.000 18 0% 15 33.3% 0 - benign(0.013) tolerated(0.17) neutral(0.059) NULL SPEN 23013 genome.wustl.edu 37 1 16202819 16202819 + Missense_Mutation SNP G G T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_015001.2 +1 reviewed p.R176L 1.000 80 0% 116 36.2% 2 100% possibly_damaging(0.951) deleterious(0.02) deleterious(0.777) NULL SPEN 23013 genome.wustl.edu 37 1 16247421 16247421 + Silent SNP T T C novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_015001.2 +1 reviewed p.Y564 1.000 75 0% 76 25% 4 0% - - - HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 C1orf64 149563 genome.wustl.edu 37 1 16332512 16332512 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_178840.2 +1 provisional p.A61T 0.000 102 0% 91 40.7% 17 41.1% benign(0.133) tolerated(0.68) neutral(0.013) NULL ACTL8 81569 genome.wustl.edu 37 1 18149620 18149620 + Silent SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_030812.2 +1 validated p.K39 0.763 84 0% 66 33.3% 0 - - - - HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067 IGSF21 84966 genome.wustl.edu 37 1 18703923 18703923 + Missense_Mutation SNP A A G novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_032880.3 +1 validated p.N444S 1.000 201 0% 204 35.3% 1 0% benign(0.045) tolerated(0.2) neutral(0.052) NULL PLA2G2F 64600 genome.wustl.edu 37 1 20474824 20474824 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_022819.3 +1 validated p.S189N 1.000 89 0% 46 37% 0 - probably_damaging(0.995) tolerated(0.1) deleterious(0.744) superfamily_PhospholipaseA2 CELA3A 10136 genome.wustl.edu 37 1 22328177 22328177 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_005747.4 +1 reviewed p.R4W 0.944 203 0% 174 28.2% 0 - unknown(0) deleterious(0.02) - NULL RPA2 6118 genome.wustl.edu 37 1 28224195 28224196 + Frame_Shift_Del DEL CA CA - novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_002946.3 -1 provisional p.V119fs 1.000:1.000 - - - - - - - - - HMMPfam_tRNA_anti,superfamily_Nucleic acid-binding proteins EPB41 2035 genome.wustl.edu 37 1 29385148 29385148 + Silent SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_203342.2 +1 reviewed p.D422 1.000 73 0% 89 15.7% 0 - - - - NULL PTPRU 10076 genome.wustl.edu 37 1 29630525 29630525 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_005704.3 +1 reviewed p.A889T 1.000 63 0% 78 42.3% 0 - benign(0.116) tolerated(0.11) neutral(0.281) superfamily_(Phosphotyrosine protein) phosphatases II NCDN 23154 genome.wustl.edu 37 1 36029369 36029369 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001014839.1 +1 reviewed p.R538C 1.000 110 0% 92 41.3% 15 26.6% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_Neurochondrin SLFNL1 200172 genome.wustl.edu 37 1 41483006 41483006 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_144990.3 -1 validated p.P334L 1.000 29 0% 31 41.9% 10 30% benign(0.367) tolerated(0.06) neutral(0.439) HMMPfam_AAA_4 HIVEP3 59269 genome.wustl.edu 37 1 42048741 42048741 + Silent SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_024503.3 -1 validated p.S576 1.000 105 0% 90 44.4% 2 0% - - - NULL HIVEP3 59269 genome.wustl.edu 37 1 42048765 42048765 + Silent SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_024503.3 -1 validated p.T568 0.090 94 0% 85 14.1% 2 0% - - - NULL NASP 4678 genome.wustl.edu 37 1 46073465 46073465 + Missense_Mutation SNP G G T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_172164.1 +1 reviewed p.E296D 0.022 158 0% 179 42.5% 24 58.3% possibly_damaging(0.942) deleterious(0) deleterious(0.832) superfamily_SSF48452 DIO1 1733 genome.wustl.edu 37 1 54371825 54371825 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001039715.1 +1 reviewed p.R132H 1.000 39 0% 47 31.9% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_T4_deiodinase INADL 10207 genome.wustl.edu 37 1 62582810 62582810 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_176877.2 +1 reviewed p.Q1604* 0.997 81 0% 97 36.1% 15 46.6% - - - HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like C1orf173 127254 genome.wustl.edu 37 1 75036927 75036927 + Missense_Mutation SNP C C A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001002912.4 -1 validated p.E1489D 0.115 850 0.1% 892 34.4% 5 20% possibly_damaging(0.892) deleterious(0) deleterious(0.796) NULL SYDE2 84144 genome.wustl.edu 37 1 85666013 85666013 + Missense_Mutation SNP A A G novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_032184.1 -1 validated p.S223P 0.000 131 0% 98 35.7% 0 - benign(0) deleterious(0) neutral(0.445) NULL GBP4 115361 genome.wustl.edu 37 1 89652203 89652203 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_052941.4 -1 validated p.R507Q 0.000 141 0% 211 43.6% 15 0% benign(0.023) tolerated(0.36) neutral(0.021) HMMPfam_GBP_C,superfamily_GBP GBP6 163351 genome.wustl.edu 37 1 89848412 89848412 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_198460.2 +1 validated p.Q448* 0.001 149 0% 133 21.8% 0 - - - - HMMPfam_GBP_C,superfamily_Interferon-induced guanylate-binding protein 1 (GBP1) C-terminal domain SLC30A7 148867 genome.wustl.edu 37 1 101427419 101427419 + Missense_Mutation SNP T T C novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001144884.1 +1 validated p.L293S 1.000 253 0% 231 30.3% 3 33.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Cation_efflux COL11A1 1301 genome.wustl.edu 37 1 103379957 103379957 + Missense_Mutation SNP G G T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_080629.2 -1 reviewed p.P1322H 1.000 135 0% 132 37.9% 0 - unknown(0) deleterious(0) - NULL NTNG1 22854 genome.wustl.edu 37 1 107979421 107979421 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001113226.1 +1 validated p.P464S 1.000 50 0% 37 18.9% 1 0% benign(0) tolerated(0.1) neutral(0.286) HMMPfam_Laminin_EGF,superfamily_EGF/Laminin SPAG17 200162 genome.wustl.edu 37 1 118658043 118658043 + Missense_Mutation SNP T T C novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_206996.2 -1 validated p.I113V 0.999 188 0% 150 32.7% 0 - benign(0.34) tolerated(0.45) neutral(0.119) NULL ANKRD34A 284615 genome.wustl.edu 37 1 145474507 145474507 + Silent SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001039888.2 +1 validated p.P393 0.870 32 0% 23 47.8% 0 - - - - NULL HRNR 388697 genome.wustl.edu 37 1 152188567 152188567 + Silent SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001009931.1 -1 validated p.G1846 0.000 605 0% 433 9.9% 0 - - - - NULL DENND4B 9909 genome.wustl.edu 37 1 153914679 153914679 + Frame_Shift_Del DEL C C - novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_014856.2 -1 validated p.G265fs 0.998 - - - - - - - - - HMMPfam_uDENN,HMMSmart_uDENN GON4L 54856 genome.wustl.edu 37 1 155722019 155722019 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001037533.1 -1 validated p.G2068R 0.018 156 0% 164 8.5% 6 0% probably_damaging(0.976) deleterious(0.03) deleterious(0.782) NULL BCAN 63827 genome.wustl.edu 37 1 156618374 156618374 + Missense_Mutation SNP G G T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_021948.3 +1 validated p.G262C 0.732 187 0% 215 20.5% 0 - probably_damaging(0.958) tolerated(0.18) neutral(0.458) HMMPfam_Xlink,HMMSmart_SM00445,superfamily_C-type lectin-like LRRC71 149499 genome.wustl.edu 37 1 156899170 156899170 + Silent SNP G G A rs190061539 by1000genomes TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_144702.2 +1 validated p.T365 0.021 73 0% 70 14.3% 5 0% - - - superfamily_RNI-like KIRREL 55243 genome.wustl.edu 37 1 158064532 158064532 + Silent SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_018240.5 +1 validated p.R632 1.000 73 0% 65 46.2% 1 0% - - - NULL MGST3 4259 genome.wustl.edu 37 1 165619088 165619088 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_004528.2 +1 reviewed p.A2T 1.000 90 0% 83 39.8% 111 25.2% benign(0) tolerated(0.19) neutral(0.050) PatternScan_TONB_DEPENDENT_REC_1 C1orf129 80133 genome.wustl.edu 37 1 170961469 170961469 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_025063.2 +1 validated p.A398V 1.000 241 0% 240 35% 0 - benign(0.007) deleterious(0.01) neutral(0.406) NULL C1orf9 51430 genome.wustl.edu 37 1 172538248 172538250 + In_Frame_Del DEL GAA GAA - novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_014283.3 +1 validated p.K277in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL CACNA1E 777 genome.wustl.edu 37 1 181759688 181759688 + Missense_Mutation SNP C C A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_000721.2 +1 reviewed p.S1965Y 1.000 133 0% 127 29.1% 0 - probably_damaging(0.982) tolerated(0.51) neutral(0.435) NULL CRB1 23418 genome.wustl.edu 37 1 197297715 197297715 + Silent SNP C C A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_201253.1 +1 reviewed p.P78 0.925 162 0% 140 36.4% 0 - - - - HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,superfamily_EGF/Laminin MYBPH 4608 genome.wustl.edu 37 1 203140649 203140649 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_004997.2 -1 validated p.R219W 0.074 16 0% 16 31.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726 NFASC 23114 genome.wustl.edu 37 1 204985525 204985525 + Missense_Mutation SNP A A G novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_015090.3 +1 reviewed p.Y1123C 1.000 218 0% 159 22.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL MAPKAPK2 9261 genome.wustl.edu 37 1 206905414 206905414 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_004759.3 +1 reviewed p.A364V 0.878 138 0% 85 37.6% 3 0% unknown(0) - - NULL MARK1 4139 genome.wustl.edu 37 1 220791762 220791762 + Silent SNP C C A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_018650.3 +1 validated p.P221 0.993 188 0% 176 36.4% 0 - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase DISP1 84976 genome.wustl.edu 37 1 223165373 223165373 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_032890.2 +1 reviewed p.W270* 1.000 98 0% 87 35.6% 0 - - - - HMMPfam_Patched C1orf65 164127 genome.wustl.edu 37 1 223567335 223567335 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_152610.2 +1 validated p.A173V 0.994 36 0% 33 33.3% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL TMEM63A 9725 genome.wustl.edu 37 1 226053661 226053661 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_014698.2 -1 validated p.R228W 1.000 37 0% 25 32% 28 25% possibly_damaging(0.857) deleterious(0) deleterious(0.776) superfamily_SSF54928 ITPKB 3707 genome.wustl.edu 37 1 226923814 226923814 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_002221.3 -1 reviewed p.T449M 0.000 29 0% 19 42.1% 5 20% possibly_damaging(0.791) deleterious(0.02) deleterious(0.679) NULL MTR 4548 genome.wustl.edu 37 1 236973856 236973856 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_000254.2 +1 reviewed p.V155M 1.000 197 0% 219 32.9% 3 100% unknown(0) deleterious(0.03) - HMMPfam_S-methyl_trans,superfamily_Homocysteine S-methyltransferase TFB2M 64216 genome.wustl.edu 37 1 246729290 246729290 + Silent SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_022366.2 -1 validated p.L51 0.001 119 0% 105 35.2% 13 23% - - - NULL OR2T35 403244 genome.wustl.edu 37 1 248801799 248801799 + Missense_Mutation SNP G G T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001001827.1 -1 provisional p.A254E 0.033 106 0% 103 17.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 SNTG2 54221 genome.wustl.edu 37 2 1271142 1271142 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_018968.3 +1 reviewed p.W361* 1.000 33 0% 25 28% 0 - - - - NULL YWHAQ 10971 genome.wustl.edu 37 2 9770350 9770350 + Silent SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_006826.2 -1 reviewed p.L78 1.000 87 0% 39 33.3% 102 38.2% - - - HMMPfam_14-3-3,HMMSmart_SM00101,superfamily_14-3-3 protein NBAS 51594 genome.wustl.edu 37 2 15330452 15330452 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_015909.2 -1 validated p.E2170K 0.055 182 0% 163 33.7% 30 26.6% benign(0.023) tolerated(0.06) neutral(0.324) NULL ZNF512 84450 genome.wustl.edu 37 2 27839157 27839157 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_032434.2 +1 validated p.S421F 1.000 197 0% 175 17.1% 9 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_ZnF_C2H2 PIGF 5281 genome.wustl.edu 37 2 46842079 46842079 + Silent SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_002643.3 -1 reviewed p.H75 1.000 103 0% 103 35% 29 37.9% - - - HMMPfam_PIG-F SPTBN1 6711 genome.wustl.edu 37 2 54859795 54859795 + Silent SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_003128.2 +1 reviewed p.D1219 0.710 126 0% 101 44.6% 31 19.3% - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat TMEM17 200728 genome.wustl.edu 37 2 62733226 62733226 + Missense_Mutation SNP G G T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_198276.2 -1 validated p.N13K 1.000 14 0% 10 50% 3 100% benign(0.073) tolerated(0.09) neutral(0.301) NULL CEP68 23177 genome.wustl.edu 37 2 65299917 65299917 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_015147.2 +1 validated p.V563I 0.000 132 0% 95 14.7% 9 0% benign(0.018) tolerated(0.74) neutral(0.002) NULL DCTN1 1639 genome.wustl.edu 37 2 74595186 74595186 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_004082.3 -1 reviewed p.R643* 1.000 79 0% 75 44% 23 17.3% - - - NULL LRRTM1 347730 genome.wustl.edu 37 2 80530553 80530553 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_178839.4 -1 validated p.T131I 1.000 77 0% 44 34.1% 8 37.5% benign(0.133) tolerated(0.13) neutral(0.264) HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058 CAPG 822 genome.wustl.edu 37 2 85628310 85628310 + Missense_Mutation SNP C C A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001747.2 -1 reviewed p.C165F 1.000 95 0% 76 40.8% 237 9.7% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00262,HMMPfam_Gelsolin,superfamily_Actin depolymerizing proteins TGFBRAP1 9392 genome.wustl.edu 37 2 105897132 105897132 + Silent SNP C C G novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001142621.1 -1 validated p.L390 1.000 44 0% 48 33.3% 3 33.3% - - - NULL TGFBRAP1 9392 genome.wustl.edu 37 2 105924145 105924145 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001142621.1 -1 validated p.C205Y 1.000 249 0% 260 31.9% 3 33.3% benign(0.141) tolerated(0.16) neutral(0.071) NULL EDAR 10913 genome.wustl.edu 37 2 109513592 109513592 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_022336.3 -1 reviewed p.T373M 1.000 84 0% 78 39.7% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Death,superfamily_DEATH_like CHCHD5 84269 genome.wustl.edu 37 2 113343883 113343883 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_032309.2 +1 provisional p.R84C 1.000 56 0% 46 32.6% 14 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_CHCH PAX8 7849 genome.wustl.edu 37 2 114004444 114004444 + Silent SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_003466.3 -1 reviewed p.L26 0.996 32 0% 43 27.9% 46 47.8% - - - HMMPfam_PAX,HMMSmart_SM00351,superfamily_Homeodomain-like NEB 4703 genome.wustl.edu 37 2 152347012 152347012 + Silent SNP G G T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_004543.4 -1 reviewed p.R6535 1.000 30 0% 33 33.3% 20 50% - - - NULL LRP2 4036 genome.wustl.edu 37 2 170030518 170030518 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_004525.2 -1 reviewed p.C3642Y 1.000 83 0% 47 31.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ldl_recept_a,HMMSmart_LDLa,superfamily_LDL_rcpt_classA_cys-rich TTN 7273 genome.wustl.edu 37 2 179446522 179446522 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e ENST00000356127 -1 known p.G19588D 1.000 51 0% 41 29.3% 0 - probably_damaging(0.962) - - HMMPfam_fn3,HMMSmart_SM00060 CCDC141 285025 genome.wustl.edu 37 2 179733853 179733853 + Silent SNP G G T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_173648.2 -1 provisional p.V220 0.995 329 0% 343 21.9% 0 - - - - NULL PPIL3 53938 genome.wustl.edu 37 2 201747146 201747146 + Missense_Mutation SNP G G T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_130906.2 -1 reviewed p.L31I 1.000 220 0% 231 32.9% 10 20% probably_damaging(0.997) deleterious(0.03) deleterious(0.831) HMMPfam_Pro_isomerase,superfamily_Cyclophilin-like C2orf62 375307 genome.wustl.edu 37 2 219222458 219222458 + Splice_Site SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_198559.1 +1 predicted e3+1 0.973 55 0% 58 34.5% 1 100% - - - - PTPRN 5798 genome.wustl.edu 37 2 220167549 220167549 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_002846.2 -1 reviewed p.A130T 0.666 147 0% 90 38.9% 0 - benign(0.002) tolerated(0.7) neutral(0.002) NULL DNER 92737 genome.wustl.edu 37 2 230253013 230253013 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_139072.3 -1 validated p.P608L 1.000 292 0% 289 36.3% 0 - probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMSmart_EGF_CA,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_SSF57196 ALPP 250 genome.wustl.edu 37 2 233244913 233244913 + Silent SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001632.3 +1 reviewed p.G225 0.996 72 0% 47 25.5% 4 0% - - - HMMPfam_Alk_phosphatase,HMMSmart_alkPPc,superfamily_Alkaline_phosphatase_core GIGYF2 26058 genome.wustl.edu 37 2 233704679 233704679 + Missense_Mutation SNP G G C novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001103147.1 +1 reviewed p.E984Q 1.000 163 0% 226 28.3% 14 50% unknown(0) tolerated(0.44) - NULL LRRFIP1 9208 genome.wustl.edu 37 2 238664759 238664759 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001137552.1 +1 validated p.A226T 0.998 61 0% 57 28.1% 21 38% probably_damaging(0.999) tolerated(0.06) deleterious(0.813) HMMPfam_DUF2051 MTERFD2 130916 genome.wustl.edu 37 2 242039227 242039227 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_182501.3 -1 validated p.T35M 0.000 83 0% 63 23.8% 2 0% benign(0.155) tolerated(0.47) neutral(0.025) HMMPfam_mTERF CMTM7 112616 genome.wustl.edu 37 3 32491044 32491044 + Silent SNP G G T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_138410.2 +1 reviewed p.A144 1.000 101 0% 120 33.3% 42 2.3% - - - HMMPfam_MARVEL SCN11A 11280 genome.wustl.edu 37 3 38888607 38888607 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_014139.2 -1 validated p.A1652T 1.000 234 0% 185 34.1% 0 - benign(0.025) tolerated(0.43) neutral(0.014) NULL NKTR 4820 genome.wustl.edu 37 3 42685428 42685428 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_005385.3 +1 reviewed p.R1412W 1.000 69 0% 88 33% 26 38.4% unknown(0) deleterious(0) - NULL XCR1 2829 genome.wustl.edu 37 3 46063018 46063018 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001024644.1 -1 reviewed p.P141L 0.005 42 0% 25 40% 0 - benign(0.025) deleterious(0.02) neutral(0.384) HMMPfam_7tm_1,superfamily_SSF81321 PFKFB4 5210 genome.wustl.edu 37 3 48563043 48563043 + Silent SNP G G T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_004567.2 -1 provisional p.A349 0.991 17 0% 19 31.6% 5 60% - - - HMMPfam_PGAM,superfamily_SSF53254 COL7A1 1294 genome.wustl.edu 37 3 48603082 48603082 + Silent SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_000094.3 -1 reviewed p.I2809 0.586 37 0% 41 39% 11 9% - - - NULL C3orf71 646450 genome.wustl.edu 37 3 48956193 48956193 + Missense_Mutation SNP C C A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001123040.1 -1 predicted p.E130D 0.000 13 0% 17 52.9% 7 42.8% unknown(0) - - NULL HYAL3 8372 genome.wustl.edu 37 3 50332625 50332625 + Missense_Mutation SNP C C A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_003549.2 -1 reviewed p.G137W 0.983 35 0% 36 33.3% 0 - benign(0.013) tolerated(0.07) neutral(0.320) HMMPfam_Glyco_hydro_56,superfamily_(Trans)glycosidases MAPKAPK3 7867 genome.wustl.edu 37 3 50685354 50685354 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_004635.3 +1 reviewed p.M342I 1.000 69 0% 32 25% 32 31.2% benign(0.036) tolerated(0.05) neutral(0.347) superfamily_Protein kinase-like (PK-like) DNAH1 25981 genome.wustl.edu 37 3 52391950 52391950 + Silent SNP C C A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_015512.4 +1 validated p.I1339 0.957 14 0% 13 53.8% 0 - - - - HMMPfam_DHC_N2 NISCH 11188 genome.wustl.edu 37 3 52524728 52524728 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_007184.3 +1 validated p.W1207* 1.000 67 0% 52 40.4% 42 38% - - - NULL APPL1 26060 genome.wustl.edu 37 3 57291325 57291325 + Silent SNP T T C novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_012096.2 +1 reviewed p.S433 0.435 272 0% 315 34.3% 5 20% - - - NULL FLNB 2317 genome.wustl.edu 37 3 58067396 58067396 + Missense_Mutation SNP A A G novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001457.3 +1 reviewed p.E227G 1.000 177 0% 208 34.1% 7 57.1% possibly_damaging(0.676) deleterious(0) deleterious(0.685) HMMPfam_CH,HMMSmart_CH,superfamily_Calponin-homology MAGI1 9223 genome.wustl.edu 37 3 65342229 65342229 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001033057.1 -1 reviewed p.R1405C 0.000 184 0% 153 36.6% 18 55.5% unknown(0) deleterious(0) - NULL TOMM70A 9868 genome.wustl.edu 37 3 100100603 100100603 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_014820.3 -1 validated p.R247H 1.000 185 0% 200 38% 15 26.6% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF48452 SLC35A5 55032 genome.wustl.edu 37 3 112300136 112300136 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_017945.2 +1 provisional p.R391Q 0.930 191 0% 155 40.6% 6 50% benign(0.009) deleterious(0) neutral(0.445) NULL BOC 91653 genome.wustl.edu 37 3 112991266 112991266 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_033254.2 +1 validated p.A226V 0.993 160 0% 112 30.4% 2 50% probably_damaging(0.99) tolerated(0.24) deleterious(0.479) NULL ARHGAP31 57514 genome.wustl.edu 37 3 119121090 119121090 + Silent SNP C C T rs61747387 byCluster;byFrequency;by1000genomes TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_020754.2 +1 reviewed p.R497 0.007 118 0% 91 35.2% 2 50% - - - NULL PARP14 54625 genome.wustl.edu 37 3 122418535 122418535 + Silent SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_017554.2 +1 validated p.P378 0.000 381 0% 432 27.8% 4 50% - - - NULL UROC1 131669 genome.wustl.edu 37 3 126219588 126219588 + Missense_Mutation SNP C C A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_144639.2 -1 reviewed p.Q365H 0.998 35 0% 45 42.2% 0 - possibly_damaging(0.632) deleterious(0) deleterious(0.665) HMMPfam_Urocanase,superfamily_Urocanase ALG1L2 644974 genome.wustl.edu 37 3 129811966 129811966 + Silent SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001136152.1 +1 validated p.D92 0.012 73 0% 101 34.7% 0 - - - - NULL NEK11 79858 genome.wustl.edu 37 3 130871346 130871346 + Missense_Mutation SNP G G T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_024800.4 +1 reviewed p.E254D 0.002 109 0% 115 33.9% 5 40% benign(0) tolerated(1) - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase UBA5 79876 genome.wustl.edu 37 3 132394464 132394464 + Silent SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_024818.3 +1 reviewed p.L322 0.001 136 0% 121 28.1% 46 47.8% - - - superfamily_MoeB USP13 8975 genome.wustl.edu 37 3 179418824 179418824 + Silent SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_003940.2 +1 validated p.S128 1.000 76 0% 82 40.2% 0 - - - - NULL USP13 8975 genome.wustl.edu 37 3 179424786 179424786 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_003940.2 +1 validated p.T181M 1.000 113 0% 121 30.6% 0 - benign(0.35) deleterious(0.01) deleterious(0.517) NULL VPS8 23355 genome.wustl.edu 37 3 184769667 184769667 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001009921.2 +1 validated p.A1381T 1.000 151 0% 162 36.4% 40 35% probably_damaging(0.953) tolerated(0.17) neutral(0.456) NULL EIF4A2 1974 genome.wustl.edu 37 3 186503752 186503752 + Nonstop_Mutation SNP T T C novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e ENST00000443963 +1 known p.*98R 1.000 160 0% 183 36.1% 73 35.6% - - - NULL LEPREL1 55214 genome.wustl.edu 37 3 189681859 189681859 + Missense_Mutation SNP A A G novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_018192.3 -1 validated p.M641T 1.000 154 0% 121 28.9% 4 25% possibly_damaging(0.512) deleterious(0.04) deleterious(0.521) HMMPfam_2OG-FeII_Oxy,HMMSmart_SM00702 XXYLT1 152002 genome.wustl.edu 37 3 194790724 194790724 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_152531.4 -1 validated p.R301H 1.000 26 0% 24 33.3% 11 45.4% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Nucleotide-diphospho-sugar transferases C1QTNF7 114905 genome.wustl.edu 37 4 15444375 15444375 + Silent SNP C C T rs144156971 by1000genomes TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001135170.1 +1 validated p.Y281 0.793 232 0% 217 35.9% 1 0% - - - HMMSmart_SM00110,superfamily_TNF-like DCAF4L1 285429 genome.wustl.edu 37 4 41984375 41984375 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001029955.3 +1 validated p.A189V 1.000 155 0% 165 38.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_WD40 repeat-like ATP8A1 10396 genome.wustl.edu 37 4 42416721 42416721 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_006095.2 -1 reviewed p.A1107V 1.000 133 0% 127 34.6% 0 - possibly_damaging(0.49) tolerated(0.11) neutral(0.434) NULL WDFY3 23001 genome.wustl.edu 37 4 85617256 85617256 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_014991.4 -1 reviewed p.A2923V 1.000 261 0% 247 39.7% 7 71.4% benign(0.196) deleterious(0.02) neutral(0.402) HMMPfam_Beach,superfamily_BEACH domain,superfamily_WD40 repeat-like HERC3 8916 genome.wustl.edu 37 4 89599188 89599188 + Missense_Mutation SNP C C A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_014606.1 +1 provisional p.P700H 1.000 163 0% 192 33.3% 2 0% probably_damaging(1) tolerated(0.16) deleterious(0.559) superfamily_Hect E3 ligase catalytic domain PDLIM5 10611 genome.wustl.edu 37 4 95444968 95444968 + Missense_Mutation SNP C C A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_006457.3 +1 reviewed p.L64I 1.000 206 0% 196 34.7% 10 30% probably_damaging(0.999) tolerated(0.31) deleterious(0.517) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like TRPC3 7222 genome.wustl.edu 37 4 122853925 122853925 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001130698.1 -1 validated p.T163I 0.997 66 0% 87 32.2% 0 - benign(0.012) tolerated(0.55) neutral(0.007) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK PCDH10 57575 genome.wustl.edu 37 4 134073288 134073288 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_032961.1 +1 reviewed p.Q665* 1.000 16 0% 24 29.2% 1 0% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDH10 57575 genome.wustl.edu 37 4 134111314 134111314 + Nonstop_Mutation SNP A A G novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_032961.1 +1 reviewed p.*1041W 1.000 80 0% 73 39.7% 0 - - - - NULL ELF2 1998 genome.wustl.edu 37 4 139983078 139983078 + Silent SNP A A G novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_201999.1 -1 validated p.L237 0.909 210 0% 215 39.1% 8 25% - - - HMMPfam_Ets,HMMSmart_ETS,superfamily_SSF46785 MAML3 55534 genome.wustl.edu 37 4 140651585 140651587 + In_Frame_Del DEL CTG CTG - rs5862430 byCluster;by1000genomes TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 CTG CTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_018717.4 -1 validated p.Q768in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL GLRB 2743 genome.wustl.edu 37 4 158058036 158058036 + Missense_Mutation SNP G G T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_000824.4 +1 reviewed p.S203I 1.000 92 0% 71 42.3% 4 25% benign(0.184) deleterious(0) neutral(0.462) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like CDKN2AIP 55602 genome.wustl.edu 37 4 184367392 184367393 + Frame_Shift_Del DEL AG AG - novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_017632.2 +1 provisional p.S187fs 0.001:0.725 - - - - - - - - - NULL FAT1 2195 genome.wustl.edu 37 4 187521280 187521280 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_005245.3 -1 reviewed p.Q3959* 1.000 159 0% 129 32.6% 10 10% - - - HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 CCDC127 133957 genome.wustl.edu 37 5 205564 205564 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_145265.2 -1 provisional p.D211N 0.999 75 1.3% 87 34.5% 38 44.7% probably_damaging(0.998) tolerated(0.05) deleterious(0.820) NULL SDHA 6389 genome.wustl.edu 37 5 228300 228300 + Missense_Mutation SNP T T C novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_004168.2 +1 reviewed p.S208P 1.000 69 0% 82 19.5% 106 32% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_FAD_binding_2,superfamily_FAD/NAD(P)-binding domain FASTKD3 79072 genome.wustl.edu 37 5 7867849 7867849 + Silent SNP T T C novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_024091.2 -1 validated p.L116 0.001 126 0% 90 37.8% 1 0% - - - NULL MYO10 4651 genome.wustl.edu 37 5 16703193 16703195 + In_Frame_Del DEL CTC CTC - novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_012334.2 -1 validated p.R784in_frame_del 0.013:0.013:0.053 - - - - - - - - - HMMPfam_IQ,HMMSmart_IQ,superfamily_SSF52540 GPBP1 65056 genome.wustl.edu 37 5 56545387 56545387 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001127235.2 +1 validated p.R339H 1.000 27 0% 42 31% 74 28.3% benign(0) tolerated(0.75) neutral(0.002) NULL PIK3R1 5295 genome.wustl.edu 37 5 67589583 67589586 + Frame_Shift_Del DEL TACA TACA - novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 TACA TACA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_181523.1 +1 reviewed p.H450fs 1.000:1.000:1.000:1.000 - - - - - - - - - NULL PIK3R1 5295 genome.wustl.edu 37 5 67589590 67589593 + Frame_Shift_Del DEL ATAT ATAT - novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 ATAT ATAT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_181523.1 +1 reviewed p.Y452fs 1.000:1.000:1.000:1.000 - - - - - - - - - NULL PIK3R1 5295 genome.wustl.edu 37 5 67589598 67589604 + Frame_Shift_Del DEL CTCAGTT CTCAGTT - novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 CTCAGTT CTCAGTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_181523.1 +1 reviewed p.T454fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000 - - - - - - - - - NULL PIK3R1 5295 genome.wustl.edu 37 5 67589630 67589646 + Frame_Shift_Del DEL AGATTATATGAAGAATA AGATTATATGAAGAATA - novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 AGATTATATGAAGAATA AGATTATATGAAGAATA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_181523.1 +1 reviewed p.R465fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.970:1.000:1.000 - - - - - - - - - NULL SV2C 22987 genome.wustl.edu 37 5 75490827 75490827 + Missense_Mutation SNP C C A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_014979.1 +1 provisional p.L222M 1.000 412 0% 395 32.7% 0 - possibly_damaging(0.864) tolerated(0.14) deleterious(0.584) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter LOC100131573 100131573 genome.wustl.edu 37 5 93929008 93929008 + Missense_Mutation SNP T T C novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e XM_001716404.1 +1 model p.I196T 1.000 150 0% 143 39.9% 0 - - - - NULL ANKRD32 84250 genome.wustl.edu 37 5 94024250 94024250 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_032290.3 +1 validated p.L721F 0.756 158 0.6% 138 37.7% 2 100% benign(0.017) tolerated(0.21) neutral(0.044) NULL KCNN2 3781 genome.wustl.edu 37 5 113831809 113831809 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_021614.2 +1 reviewed p.R557Q 1.000 205 0% 164 40.2% 10 40% unknown(0) tolerated(0.37) - NULL PDLIM4 8572 genome.wustl.edu 37 5 131606680 131606680 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_003687.3 +1 reviewed p.G134* 0.979 203 0% 176 34.1% 32 0% - - - NULL PCDHA9 9752 genome.wustl.edu 37 5 140230358 140230358 + Missense_Mutation SNP T T A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_031857.1 +1 reviewed p.S760T 0.851 77 0% 89 37.1% 0 - benign(0.429) deleterious(0.01) deleterious(0.545) NULL PCDHA12 56137 genome.wustl.edu 37 5 140256423 140256423 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_018903.2 +1 reviewed p.A456T 0.393 93 0% 79 44.3% 0 - benign(0.001) tolerated(0.23) neutral(0.042) superfamily_Cadherin-like PCDHB5 26167 genome.wustl.edu 37 5 140516822 140516822 + Silent SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_015669.2 +1 reviewed p.S602 0.999 103 0% 143 31.5% 2 0% - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB11 56125 genome.wustl.edu 37 5 140581426 140581426 + Silent SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_018931.2 +1 reviewed p.A693 0.000 118 0% 107 43.9% 2 0% - - - NULL PCDHGB4 8641 genome.wustl.edu 37 5 140769231 140769231 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_003736.2 +1 reviewed p.A594T 1.000 25 0% 37 37.8% 0 - possibly_damaging(0.705) deleterious(0.02) deleterious(0.637) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like SH3RF2 153769 genome.wustl.edu 37 5 145439659 145439659 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_152550.3 +1 validated p.A596T 0.028 147 0% 166 34.3% 6 16.6% benign(0.101) tolerated(0.3) neutral(0.036) NULL SPINK5 11005 genome.wustl.edu 37 5 147491435 147491435 + Silent SNP C C A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001127698.1 +1 reviewed p.T599 0.272 86 0% 86 30.2% 0 - - - - HMMSmart_SM00280,HMMPfam_Kazal_2,superfamily_Kazal-type serine protease inhibitors SLIT3 6586 genome.wustl.edu 37 5 168244422 168244423 + Frame_Shift_Ins INS - - C novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_003062.2 -1 validated p.L225fs 1.000:1.000 - - - - - - - - - HMMSmart_SM00082,HMMSmart_SM00368,superfamily_L domain-like NSD1 64324 genome.wustl.edu 37 5 176638605 176638605 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_022455.4 +1 reviewed p.Q1069* 0.001 344 0% 328 30.8% 6 16.6% - - - NULL NSD1 64324 genome.wustl.edu 37 5 176719076 176719076 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_022455.4 +1 reviewed p.A2127V 0.999 68 0% 85 24.7% 26 38.4% benign(0.05) deleterious(0.01) neutral(0.409) HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger,HMMPfam_PHD GRK6 2870 genome.wustl.edu 37 5 176859015 176859015 + Silent SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_002082.3 +1 reviewed p.L56 1.000 36 0% 29 34.5% 7 14.2% - - - HMMPfam_RGS,HMMSmart_RGS,superfamily_Regulat_G_prot_signal_superfam HIST1H2AB 8335 genome.wustl.edu 37 6 26033451 26033451 + Silent SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_003513.2 -1 reviewed p.L116 1.000 117 0% 91 28.6% 1 100% - - - HMMSmart_SM00414,superfamily_Histone-fold HIST1H1E 3008 genome.wustl.edu 37 6 26156754 26156754 + Missense_Mutation SNP A A G novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_005321.2 +1 reviewed p.K46E 1.000 28 0% 23 26.1% 4 25% benign(0.057) tolerated(0.53) neutral(0.011) "HMMPfam_Linker_histone,HMMSmart_SM00526,superfamily_""Winged helix"" DNA-binding domain" OR10C1 442194 genome.wustl.edu 37 6 29385254 29385254 + Silent SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e ENST00000383554 +1 known p.C66 0.000 192 0% 177 41.2% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 RPP21 79897 genome.wustl.edu 37 6 30313139 30313139 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_024839.1 +1 provisional p.T41I 1.000 67 0% 60 28.3% 83 28.9% probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_Rpr2 GTF2H4 2968 genome.wustl.edu 37 6 30879002 30879002 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001517.4 +1 validated p.A210T 1.000 122 0% 95 32.6% 17 35.2% benign(0) tolerated(0.46) neutral(0.012) HMMPfam_Tfb2 PRRC2A 7916 genome.wustl.edu 37 6 31593624 31593624 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_080686.2 +1 reviewed p.R272Q 1.000 52 0% 61 32.8% 14 35.7% unknown(0) deleterious(0.03) - NULL PRRC2A 7916 genome.wustl.edu 37 6 31597498 31597498 + Silent SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_080686.2 +1 reviewed p.R710 1.000 32 0% 43 46.5% 15 33.3% - - - NULL PRRC2A 7916 genome.wustl.edu 37 6 31602684 31602684 + Missense_Mutation SNP C C A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_080686.2 +1 reviewed p.P1697H 1.000 196 0% 194 44.8% 129 41.8% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL ABHD16A 7920 genome.wustl.edu 37 6 31660863 31660863 + Silent SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_021160.2 -1 reviewed p.H189 0.977 63 0% 74 23% 28 42.8% unknown(0) - - NULL SYNGAP1 8831 genome.wustl.edu 37 6 33391320 33391320 + Missense_Mutation SNP A A G novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_006772.2 +1 reviewed p.N45S 1.000 144 0% 108 34.3% 0 - benign(0) tolerated(0.47) neutral(0.011) HMMSmart_SM00233 CCDC167 154467 genome.wustl.edu 37 6 37452902 37452902 + Silent SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_138493.2 -1 validated p.H37 0.000 44 0% 29 48.3% 108 47.2% - - - NULL NFYA 4800 genome.wustl.edu 37 6 41062174 41062174 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_002505.4 +1 reviewed p.R310W 0.936 185 0% 187 39% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CBFB_NFYA,HMMSmart_SM00521 CUL9 23113 genome.wustl.edu 37 6 43156386 43156386 + Missense_Mutation SNP C C A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_015089.2 +1 validated p.L705I 1.000 106 0% 140 38.6% 5 40% benign(0.104) deleterious(0) neutral(0.453) superfamily_ARM repeat TNFRSF21 27242 genome.wustl.edu 37 6 47200723 47200725 + In_Frame_Del DEL CTT CTT - novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_014452.3 -1 reviewed p.K582in_frame_del 0.995:1.000:1.000 - - - - - - - - - NULL PRDM1 639 genome.wustl.edu 37 6 106553183 106553183 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001198.3 +1 reviewed p.T383M 0.221 151 0% 122 36.9% 5 0% possibly_damaging(0.838) deleterious(0) deleterious(0.764) NULL CEP57L1 285753 genome.wustl.edu 37 6 109483952 109483952 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001083535.1 +1 validated p.V388I 1.000 69 0% 93 35.5% 1 100% probably_damaging(0.999) tolerated(0.14) deleterious(0.740) NULL LAMA2 3908 genome.wustl.edu 37 6 129637005 129637006 + Frame_Shift_Ins INS - - G novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_000426.3 +1 reviewed p.T1279fs 0.996:1.000 - - - - - - - - - HMMPfam_Laminin_B,superfamily_ConA_like_lec_gl,HMMSmart_LamB SASH1 23328 genome.wustl.edu 37 6 148865810 148865810 + Silent SNP A A G novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_015278.3 +1 validated p.T1068 0.001 39 0% 40 37.5% 0 - - - - NULL SYNE1 23345 genome.wustl.edu 37 6 152708236 152708236 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_182961.2 -1 reviewed p.Q2820* 1.000 200 0% 257 38.5% 0 - - - - superfamily_Spectrin repeat RPS6KA2 6196 genome.wustl.edu 37 6 166862263 166862263 + Silent SNP T T C novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001006932.1 -1 reviewed p.S435 1.000 39 0% 35 20% 4 0% - - - HMMSmart_S_TKc,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase SDK1 221935 genome.wustl.edu 37 7 4259833 4259833 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_152744.3 +1 validated p.R1878C 1.000 42 0% 42 35.7% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III ANKMY2 57037 genome.wustl.edu 37 7 16649354 16649354 + Silent SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_020319.2 -1 validated p.V261 0.004 127 0% 135 37.8% 1 100% - - - NULL DFNA5 1687 genome.wustl.edu 37 7 24789344 24789344 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001127453.1 -1 reviewed p.G17D 0.997 267 0% 244 37.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Gasdermin OGDH 4967 genome.wustl.edu 37 7 44734156 44734156 + Missense_Mutation SNP T T A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_002541.3 +1 reviewed p.V550D 1.000 50 0% 26 30.8% 29 31% probably_damaging(0.986) deleterious(0) deleterious(0.879) HMMPfam_E1_dh,superfamily_SSF52518 ABCA13 154664 genome.wustl.edu 37 7 48314266 48314266 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_152701.3 +1 reviewed p.R1668H 0.000 323 0% 242 31.8% 0 - benign(0.007) - - NULL EGFR 1956 genome.wustl.edu 37 7 55241632 55241632 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_005228.3 +1 reviewed p.P694S 1.000 143 0% 84 28.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL STAG3L4 64940 genome.wustl.edu 37 7 66774052 66774052 + Missense_Mutation SNP A A G novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_022906.2 +1 validated p.D73G 1.000 127 0% 119 35.3% 12 58.3% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_STAG AUTS2 26053 genome.wustl.edu 37 7 70252285 70252285 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_015570.2 +1 validated p.P800L 1.000 76 0% 67 37.3% 1 100% probably_damaging(0.957) deleterious(0) deleterious(0.845) NULL POM121 9883 genome.wustl.edu 37 7 72397386 72397386 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_172020.1 +1 reviewed p.A38T 0.014 261 0% 205 37.1% 10 20% possibly_damaging(0.748) tolerated(0.2) neutral(0.324) NULL MDH2 4191 genome.wustl.edu 37 7 75684182 75684182 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_005918.2 +1 reviewed p.G34E 1.000 158 0% 190 26.8% 90 27.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ldh_1_N,superfamily_NAD(P)-bd DTX2 113878 genome.wustl.edu 37 7 76112069 76112069 + Silent SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001102594.1 +1 validated p.S171 0.001 48 0% 60 25% 10 40% - - - HMMPfam_WWE,HMMSmart_SM00678 PCLO 27445 genome.wustl.edu 37 7 82453553 82453553 + Missense_Mutation SNP C C A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_033026.5 -1 validated p.K4865N 1.000 56 0% 38 50% 0 - unknown(0) - - NULL CCDC132 55610 genome.wustl.edu 37 7 92935292 92935294 + In_Frame_Del DEL AGA AGA - novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_017667.2 +1 validated p.E536in_frame_del 0.898:1.000:1.000 - - - - - - - - - NULL PVRIG 79037 genome.wustl.edu 37 7 99818824 99818824 + Missense_Mutation SNP C C A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_024070.3 +1 validated p.P311T 0.000 21 0% 17 58.8% 16 0% benign(0.007) - - NULL MUC17 140453 genome.wustl.edu 37 7 100686858 100686858 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001040105.1 +1 provisional p.P4054L 0.001 154 0% 163 33.1% 0 - benign(0.014) - - NULL PSMC2 5701 genome.wustl.edu 37 7 102996162 102996162 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_002803.2 +1 reviewed p.G71D 1.000 100 0% 153 37.3% 50 40% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL SLC26A5 375611 genome.wustl.edu 37 7 103048396 103048396 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_198999.2 -1 reviewed p.V264I 1.000 270 0% 305 32.8% 0 - benign(0.309) tolerated(0.36) neutral(0.117) HMMPfam_Sulfate_transp ING3 54556 genome.wustl.edu 37 7 120608061 120608072 + In_Frame_Del DEL CTATAACATTGG CTATAACATTGG - novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 CTATAACATTGG CTATAACATTGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_019071.2 +1 reviewed p.YNIG211in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 - - - - - - - - - NULL SND1 27044 genome.wustl.edu 37 7 127725768 127725768 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_014390.2 +1 validated p.R747H 1.000 70 0% 49 46.9% 284 42.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_TUDOR,HMMPfam_TUDOR,superfamily_Staphylococal_nuclease_OB-fold CCDC136 64753 genome.wustl.edu 37 7 128454911 128454911 + Missense_Mutation SNP A A G novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_022742.3 +1 validated p.K995E 0.002 42 0% 52 28.8% 1 0% benign(0.026) deleterious(0.02) neutral(0.384) NULL MEST 4232 genome.wustl.edu 37 7 130144786 130144786 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e ENST00000437945 +1 known p.R278H 1.000 158 0% 197 33% 53 41.5% benign(0.012) deleterious(0.01) neutral(0.406) NULL SVOPL 136306 genome.wustl.edu 37 7 138305860 138305860 + Silent SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001139456.1 -1 validated p.R428 0.281 41 0% 39 41% 2 0% - - - superfamily_MFS general substrate transporter OR2F2 135948 genome.wustl.edu 37 7 143632647 143632647 + Missense_Mutation SNP G G T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001004685.1 +1 provisional p.G108C 0.654 325 0% 290 39.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ZNF282 8427 genome.wustl.edu 37 7 148921517 148921517 + Silent SNP C C A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_003575.2 +1 validated p.G598 1.000 38 0% 17 35.3% 22 50% - - - superfamily_SSF57667 WDR60 55112 genome.wustl.edu 37 7 158718993 158718993 + Splice_Site SNP T T C novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_018051.4 +1 validated e18+2 0.951 36 0% 44 29.5% 0 - - - - - NAT1 9 genome.wustl.edu 37 8 18079903 18079903 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_000662.5 +1 reviewed p.G116D 0.018 416 0% 416 37% 19 42.1% benign(0.08) tolerated(0.14) neutral(0.255) HMMPfam_Acetyltransf_2,superfamily_SSF54001 TNFRSF10B 8795 genome.wustl.edu 37 8 22880327 22880327 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_003842.4 -1 reviewed p.G394R 0.366 91 1.1% 100 40% 12 41.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Death,HMMSmart_SM00005,superfamily_DEATH domain LOXL2 4017 genome.wustl.edu 37 8 23156440 23156440 + Silent SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_002318.2 -1 reviewed p.F718 0.990 41 0% 29 51.7% 12 0% - - - HMMPfam_Lysyl_oxidase DPYSL2 1808 genome.wustl.edu 37 8 26501552 26501552 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001386.4 +1 validated p.P352L 1.000 93 0% 65 35.4% 6 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Amidohydro_1,superfamily_Composite domain of metallo-dependent hydrolases,superfamily_Metallo-dependent hydrolases STMN4 81551 genome.wustl.edu 37 8 27099926 27099926 + Missense_Mutation SNP A A G novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_030795.2 -1 provisional p.Y33H 1.000 26 0% 28 21.4% 0 - possibly_damaging(0.808) deleterious(0.05) deleterious(0.649) NULL WHSC1L1 54904 genome.wustl.edu 37 8 38187283 38187283 + Silent SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_023034.1 -1 reviewed p.Q398 1.000 161 0% 193 34.2% 27 44.4% - - - superfamily_Tudor/PWWP/MBT C8orf86 389649 genome.wustl.edu 37 8 38373997 38373997 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_207412.1 -1 predicted p.A117T 0.000 135 0.7% 105 41% 0 - unknown(0) - - NULL CA1 759 genome.wustl.edu 37 8 86240889 86240889 + Missense_Mutation SNP C C A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001128829.2 -1 reviewed p.S229I 1.000 331 0% 338 32.5% 0 - possibly_damaging(0.509) deleterious(0.01) deleterious(0.576) HMMPfam_Carb_anhydrase,superfamily_Euk_COanhd SLC26A7 115111 genome.wustl.edu 37 8 92355600 92355600 + Missense_Mutation SNP T T C novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_134266.1 +1 reviewed p.L349P 1.000 43 0% 51 41.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sulfate_transp KCNS2 3788 genome.wustl.edu 37 8 99440838 99440838 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_020697.2 +1 provisional p.D211N 1.000 135 0% 88 30.7% 0 - benign(0.208) deleterious(0.05) neutral(0.365) superfamily_Voltage-gated potassium channels OXR1 55074 genome.wustl.edu 37 8 107719115 107719115 + Missense_Mutation SNP A A T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_018002.2 +1 validated p.N456Y 0.000 191 0% 201 38.8% 6 66.6% probably_damaging(0.978) deleterious(0.02) deleterious(0.803) NULL PKHD1L1 93035 genome.wustl.edu 37 8 110456916 110456916 + Silent SNP C C T rs144003851 by1000genomes TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_177531.4 +1 validated p.V1606 0.940 372 0% 370 41.6% 0 - - - - HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains NOV 4856 genome.wustl.edu 37 8 120431465 120431465 + Silent SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_002514.3 +1 reviewed p.S219 0.998 180 0% 192 34.9% 0 - - - - HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1 TAF2 6873 genome.wustl.edu 37 8 120801942 120801942 + Silent SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_003184.3 -1 reviewed p.Q486 1.000 209 0% 237 31.2% 3 0% - - - superfamily_SSF55486 ZC3H3 23144 genome.wustl.edu 37 8 144621272 144621272 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_015117.2 -1 validated p.D89N 0.027 17 0% 14 35.7% 9 11.1% probably_damaging(0.98) tolerated(0.05) deleterious(0.769) NULL KANK1 23189 genome.wustl.edu 37 9 731229 731229 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_015158.2 +1 reviewed p.A990T 0.033 75 0% 97 26.8% 4 25% benign(0) tolerated(1) - superfamily_ANK KDM4C 23081 genome.wustl.edu 37 9 7015919 7015919 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_015061.3 +1 reviewed p.A750V 0.990 159 0% 143 32.9% 21 47.6% benign(0.001) tolerated(0.1) neutral(0.286) superfamily_FYVE/PHD zinc finger MPDZ 8777 genome.wustl.edu 37 9 13188939 13188939 + Silent SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_003829.3 -1 validated p.G736 0.641 290 0% 264 32.2% 1 0% - - - HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like SLC24A2 25769 genome.wustl.edu 37 9 19516274 19516274 + Silent SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_020344.1 -1 provisional p.I621 0.493 187 0% 202 31.7% 0 - - - - HMMPfam_Na_Ca_ex VCP 7415 genome.wustl.edu 37 9 35059707 35059707 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_007126.3 -1 reviewed p.A596V 1.000 127 0% 127 31.5% 281 61.9% possibly_damaging(0.477) tolerated(0.76) neutral(0.159) HMMSmart_SM00382,HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases FANCG 2189 genome.wustl.edu 37 9 35077285 35077285 + Missense_Mutation SNP G G T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_004629.1 -1 reviewed p.L208M 0.980 160 0% 139 38.8% 16 25% probably_damaging(0.998) tolerated(0.09) deleterious(0.771) NULL RECK 8434 genome.wustl.edu 37 9 36060149 36060149 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_021111.2 +1 reviewed p.P90S 1.000 232 0% 266 32% 1 0% benign(0.003) tolerated(0.54) neutral(0.007) NULL DCAF10 79269 genome.wustl.edu 37 9 37842190 37842190 + Missense_Mutation SNP C C A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_024345.3 +1 validated p.T253N 1.000 104 0% 166 31.3% 3 33.3% possibly_damaging(0.837) tolerated(0.13) deleterious(0.572) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 SMC5 23137 genome.wustl.edu 37 9 72895705 72895705 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_015110.3 +1 validated p.Q237* 1.000 220 0% 246 33.7% 2 50% - - - HMMPfam_SMC_N,superfamily_SSF52540 S1PR3 1903 genome.wustl.edu 37 9 91616968 91616968 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_005226.2 +1 reviewed p.V285M 0.927 53 0% 45 40% 6 0% benign(0.001) tolerated(0.08) neutral(0.300) HMMPfam_7tm_1,superfamily_SSF81321 PTCH1 5727 genome.wustl.edu 37 9 98209397 98209397 + Missense_Mutation SNP C C T rs187104739 by1000genomes TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_000264.3 -1 reviewed p.V1381M 1.000 43 0% 40 25% 6 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL HSD17B3 3293 genome.wustl.edu 37 9 99060732 99060732 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_000197.1 -1 reviewed p.A56V 1.000 506 0.2% 623 33.1% 2 50% probably_damaging(0.992) deleterious(0.01) deleterious(0.853) HMMPfam_adh_short,superfamily_NAD(P)-binding Rossmann-fold domains SLC35D2 11046 genome.wustl.edu 37 9 99113395 99113395 + Missense_Mutation SNP T T C novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_007001.2 -1 validated p.I160V 0.924 131 0% 149 31.5% 10 60% benign(0.001) tolerated(0.88) - NULL ANP32B 10541 genome.wustl.edu 37 9 100767334 100767334 + Missense_Mutation SNP T T C novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_006401.2 +1 validated p.L139P 1.000 73 0% 88 34.1% 276 38% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00446,superfamily_Outer arm dynein light chain 1 ZNF462 58499 genome.wustl.edu 37 9 109689703 109689703 + Silent SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_021224.4 +1 validated p.P1170 0.159 391 0% 414 44.4% 1 100% - - - superfamily_beta-sandwich domain of Sec23/24 C9orf84 158401 genome.wustl.edu 37 9 114449067 114449067 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_173521.3 -1 validated p.R1440W 0.997 219 0.5% 231 34.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SLC31A2 1318 genome.wustl.edu 37 9 115918382 115918382 + Missense_Mutation SNP T T A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e ENST00000394724 +1 known p.M35K 0.000 229 0% 209 43.1% 0 - - - - NULL FKBP15 23307 genome.wustl.edu 37 9 115962165 115962165 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_015258.1 -1 validated p.A193T 1.000 54 0% 55 18.2% 4 25% probably_damaging(0.99) tolerated(0.14) deleterious(0.691) HMMPfam_FKBP_C,superfamily_FKBP-like LRSAM1 90678 genome.wustl.edu 37 9 130258310 130258310 + Missense_Mutation SNP T T A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001005373.1 +1 validated p.I589N 0.992 16 0% 10 40% 27 22.2% benign(0.213) deleterious(0.02) neutral(0.404) HMMSmart_SM00454,superfamily_SAM/Pointed domain,HMMPfam_SAM_2 STXBP1 6812 genome.wustl.edu 37 9 130430453 130430453 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_003165.3 +1 reviewed p.A297T 1.000 41 0% 37 29.7% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sec1,superfamily_Sec1/munc18-like (SM) proteins COQ4 51117 genome.wustl.edu 37 9 131095906 131095906 + Silent SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_016035.3 +1 validated p.H260 0.000 38 0% 38 36.8% 161 42.2% - - - NULL ABL1 25 genome.wustl.edu 37 9 133738156 133738156 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_007313.2 +1 reviewed p.V205I 1.000 66 0% 42 57.1% 14 35.7% possibly_damaging(0.603) tolerated(0.49) neutral(0.220) HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain TUBB4B 10383 genome.wustl.edu 37 9 140137223 140137223 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_006088.5 +1 validated p.A185T 1.000 21 0% 17 29.4% 1467 33.1% benign(0) - - HMMPfam_Tubulin,superfamily_Tubulin nucleotide-binding domain-like ADARB2 105 genome.wustl.edu 37 10 1230839 1230839 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_018702.2 -1 reviewed p.H669Y 1.000 26 0% 22 40.9% 1 0% possibly_damaging(0.881) tolerated(0.36) neutral(0.364) HMMPfam_A_deamin,HMMSmart_ADEAMc CELF2 10659 genome.wustl.edu 37 10 11299738 11299738 + Silent SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_006561.3 +1 reviewed p.S147 1.000 71 0% 85 30.6% 2 0% - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD ITGA8 8516 genome.wustl.edu 37 10 15614302 15614302 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_003638.1 -1 provisional p.R849W 0.926 224 0% 237 33.8% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_Integrin_alpha2,superfamily_SSF69179 VIM 7431 genome.wustl.edu 37 10 17272668 17272669 + Frame_Shift_Ins INS - - AG novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_003380.3 +1 reviewed p.E198fs 0.995:1.000 - - - - - - - - - HMMPfam_Filament ANKRD26 22852 genome.wustl.edu 37 10 27326801 27326801 + Missense_Mutation SNP T T C novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_014915.2 -1 validated p.Q853R 1.000 118 0% 126 31.7% 1 100% benign(0.205) tolerated(0.12) neutral(0.281) NULL MAP3K8 1326 genome.wustl.edu 37 10 30749707 30749707 + Missense_Mutation SNP G G C novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_005204.2 +1 reviewed p.G449A 0.998 129 0% 108 35.2% 3 0% probably_damaging(0.999) tolerated(0.09) deleterious(0.787) NULL NRP1 8829 genome.wustl.edu 37 10 33496541 33496541 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_003873.5 -1 validated p.G573E 1.000 283 0% 258 34.5% 17 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_F5_F8_type_C,HMMSmart_SM00231,PatternScan_FA58C_2,superfamily_Galactose-binding domain-like NRP1 8829 genome.wustl.edu 37 10 33542964 33542964 + Missense_Mutation SNP A A T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_003873.5 -1 validated p.W325R 1.000 120 0% 115 35.7% 8 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_F5_F8_type_C,HMMSmart_SM00231,PatternScan_FA58C_1,superfamily_Galactose-binding domain-like ENSG00000248534 0 genome.wustl.edu 37 10 50534969 50534970 + RNA INS - - ACACAC novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e ENST00000399384 -1 novel NULL 0.000:0.000 - - - - - - - - - - PHYHIPL 84457 genome.wustl.edu 37 10 60996341 60996341 + Silent SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_032439.3 +1 validated p.V134 0.988 186 0% 183 39.9% 1 0% - - - HMMPfam_fn3,superfamily_Fibronectin type III SAMD8 142891 genome.wustl.edu 37 10 76928311 76928311 + Silent SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_144660.2 +1 validated p.L229 1.000 291 0% 315 32.4% 1 100% - - - NULL DLG5 9231 genome.wustl.edu 37 10 79593716 79593716 + Silent SNP G G T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_004747.3 -1 reviewed p.T568 1.000 36 0% 31 38.7% 12 33.3% - - - NULL SFTPD 6441 genome.wustl.edu 37 10 81702174 81702174 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_003019.4 -1 validated p.P135S 1.000 75 0% 73 17.8% 0 - possibly_damaging(0.707) - - HMMPfam_Collagen LOC100131699 100131699 genome.wustl.edu 37 10 86320504 86320504 + Missense_Mutation SNP T T C novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e XM_001723921.2 -1 model p.K89E 1.000 94 0% 102 26.5% 2 50% - - - NULL PTEN 5728 genome.wustl.edu 37 10 89692949 89692949 + Missense_Mutation SNP T T A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e ENST00000371953 +1 known p.F145I 1.000 319 0% 356 34.6% 11 9% benign(0.429) tolerated(0.13) neutral(0.392) HMMPfam_DSPc,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II PLCE1 51196 genome.wustl.edu 37 10 96084105 96084105 + Splice_Site SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_016341.3 +1 reviewed e30-1 1.000 300 0% 263 38% 0 - - - - - CRTAC1 55118 genome.wustl.edu 37 10 99683047 99683047 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_018058.4 -1 validated p.R178C 1.000 40 0% 27 44.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Integrin alpha N-terminal domain PPRC1 23082 genome.wustl.edu 37 10 103908413 103908413 + Missense_Mutation SNP T T C novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_015062.3 +1 reviewed p.Y1527H 1.000 188 0.5% 178 35.4% 32 40.6% unknown(0) tolerated(0.12) - superfamily_RNA-binding domain RBD PRDX3 10935 genome.wustl.edu 37 10 120928766 120928766 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_006793.2 -1 reviewed p.R214C 1.000 54 0% 32 31.2% 193 46.6% possibly_damaging(0.88) deleterious(0) deleterious(0.788) superfamily_Thiordxn-like_fd,HMMPfam_1-cysPrx_C BAG3 9531 genome.wustl.edu 37 10 121436690 121436690 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_004281.3 +1 reviewed p.A542T 0.006 101 0% 129 37.2% 49 24.4% benign(0.25) tolerated(0.16) neutral(0.085) NULL CARS 833 genome.wustl.edu 37 11 3039980 3039980 + Splice_Site SNP C C A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001014437.1 -1 reviewed e13-1 1.000 62 0% 45 31.1% 0 - - - - - OR52M1 119772 genome.wustl.edu 37 11 4566853 4566853 + Missense_Mutation SNP C C G novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001004137.1 +1 validated p.R145G 0.001 209 0% 215 37.7% 0 - possibly_damaging(0.717) tolerated(0.25) neutral(0.296) HMMPfam_7tm_1,superfamily_SSF81321 OR52N2 390077 genome.wustl.edu 37 11 5841690 5841690 + Missense_Mutation SNP T T C novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001005174.1 +1 provisional p.V42A 0.751 255 0% 224 35.7% 0 - benign(0.001) tolerated(0.17) neutral(0.059) superfamily_SSF81321 CNGA4 1262 genome.wustl.edu 37 11 6261671 6261671 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001037329.2 +1 validated p.R216H 1.000 216 0% 155 32.9% 1 0% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels DENND5A 23258 genome.wustl.edu 37 11 9165753 9165753 + Silent SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_015213.2 -1 validated p.L1065 1.000 68 0% 86 38.4% 39 30.7% - - - NULL IGSF22 283284 genome.wustl.edu 37 11 18736130 18736130 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_173588.3 -1 validated p.A525T 0.207 73 0% 86 37.2% 0 - probably_damaging(0.98) tolerated(0.2) deleterious(0.473) HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726 PAX6 5080 genome.wustl.edu 37 11 31816201 31816201 + Missense_Mutation SNP T T C novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001604.4 -1 reviewed p.E234G 1.000 79 0% 83 24.1% 0 - benign(0.245) deleterious(0) deleterious(0.470) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like PRR5L 79899 genome.wustl.edu 37 11 36483913 36483913 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_024841.4 +1 validated p.R245Q 0.989 106 0% 104 39.4% 16 37.5% possibly_damaging(0.452) tolerated(0.36) neutral(0.168) NULL ALX4 60529 genome.wustl.edu 37 11 44296903 44296903 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_021926.3 -1 reviewed p.V258M 1.000 126 0% 97 32% 0 - possibly_damaging(0.906) deleterious(0) deleterious(0.804) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like,PatternScan_HOMEOBOX_1 NUP160 23279 genome.wustl.edu 37 11 47814373 47814373 + Missense_Mutation SNP A A G novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_015231.1 -1 validated p.Y1139H 1.000 266 0% 294 39.8% 14 85.7% probably_damaging(0.984) tolerated(0.07) deleterious(0.750) NULL OR5D18 219438 genome.wustl.edu 37 11 55587765 55587765 + Silent SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001001952.1 +1 provisional p.A220 0.000 285 0% 293 31.7% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 LOC100287520 100287520 genome.wustl.edu 37 11 58862149 58862149 + Silent SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e XM_002343089.1 +1 model p.L304 0.001 56 0% 58 41.4% 0 - - - - HMMPfam_Gly_acyl_tr_C,superfamily_Acyl-CoA N-acyltransferases (Nat) BEST1 7439 genome.wustl.edu 37 11 61725716 61725716 + Silent SNP C C T rs62639266 TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001139443.1 +1 reviewed p.L211 0.591 88 0% 76 44.7% 0 - - - - HMMPfam_Bestrophin OTUB1 55611 genome.wustl.edu 37 11 63764886 63764886 + Silent SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_017670.2 +1 reviewed p.S228 0.128 104 0% 94 40.4% 241 34.4% - - - HMMPfam_Peptidase_C65,superfamily_Cysteine proteinases TIGD3 220359 genome.wustl.edu 37 11 65123537 65123537 + Missense_Mutation SNP G G T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_145719.2 +1 reviewed p.W86C 1.000 39 0% 28 28.6% 2 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_CENPB,superfamily_Homeodomain_like,HMMPfam_CenpB-DNA-bind PCNXL3 399909 genome.wustl.edu 37 11 65385983 65385983 + Missense_Mutation SNP A A G novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_032223.2 +1 validated p.K384E 1.000 7 0.000 9 0.778 3 0% possibly_damaging(0.797) deleterious(0.03) deleterious(0.664) NULL SHANK2 22941 genome.wustl.edu 37 11 70338480 70338480 + Missense_Mutation SNP C C A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_012309.3 -1 reviewed p.R205L 1.000 14 0% 12 41.7% 2 0% probably_damaging(0.958) deleterious(0) deleterious(0.846) NULL NUMA1 4926 genome.wustl.edu 37 11 71724510 71724510 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_006185.2 -1 validated p.Q1347* 1.000 28 0% 32 34.4% 99 23.2% - - - NULL CLPB 81570 genome.wustl.edu 37 11 72028228 72028228 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_030813.3 -1 provisional p.R334W 1.000 110 0.9% 115 29.6% 12 58.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FAM168A 23201 genome.wustl.edu 37 11 73130926 73130926 + Silent SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_015159.1 -1 predicted p.A90 0.997 107 0% 100 29% 6 33.3% - - - NULL SESN3 143686 genome.wustl.edu 37 11 94924698 94924698 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_144665.2 -1 provisional p.R71H 1.000 220 0% 215 34.4% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_PA26 ARHGEF12 23365 genome.wustl.edu 37 11 120322283 120322283 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_015313.1 +1 reviewed p.V636M 0.986 67 0% 95 30.5% 7 28.5% benign(0.001) tolerated(0.32) neutral(0.024) NULL RPUSD4 84881 genome.wustl.edu 37 11 126081474 126081474 + Silent SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_032795.2 -1 validated p.C20 0.000 100 0% 119 38.7% 0 - - - - NULL AKAP3 10566 genome.wustl.edu 37 12 4737708 4737708 + Silent SNP T T C novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_006422.2 -1 reviewed p.S120 0.009 281 0% 226 30.1% 0 - - - - HMMSmart_SM00807 C1R 715 genome.wustl.edu 37 12 7244248 7244248 + Missense_Mutation SNP G G T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e ENST00000290575 -1 known p.L25M 0.213 19 0% 19 26.3% 84 0% possibly_damaging(0.903) tolerated(0.19) neutral(0.407) NULL RBP5 83758 genome.wustl.edu 37 12 7280873 7280873 + Missense_Mutation SNP T T C novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_031491.2 -1 provisional p.E72G 1.000 146 0% 128 30.5% 18 0% probably_damaging(0.954) deleterious(0.02) deleterious(0.780) HMMPfam_Lipocalin,superfamily_Calycin FAR2 55711 genome.wustl.edu 37 12 29485551 29485551 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_018099.3 +1 provisional p.R426C 1.000 150 0% 114 32.5% 5 60% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Sterile FAM113B 91523 genome.wustl.edu 37 12 47629771 47629771 + Splice_Site SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e ENST00000330951 +1 known e1+1 0.000 129 0% 126 39.7% 32 46.8% - - - - C12orf68 387856 genome.wustl.edu 37 12 48578373 48578373 + Missense_Mutation SNP C C A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001013635.3 +1 validated p.H156Q 1.000 7 0.000 15 0.400 2 0% benign(0.016) - - NULL RND1 27289 genome.wustl.edu 37 12 49255850 49255850 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_014470.3 -1 validated p.A87V 1.000 66 0% 59 37.3% 1 0% probably_damaging(0.995) tolerated(1) neutral(0.458) HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases TUBA1B 10376 genome.wustl.edu 37 12 49522264 49522264 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_006082.2 -1 validated p.A278V 1.000 108 0.9% 105 29.5% 965 38.7% benign(0.249) deleterious(0.02) neutral(0.409) superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C ESPL1 9700 genome.wustl.edu 37 12 53663743 53663743 + Silent SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_012291.4 +1 validated p.S339 0.915 37 0% 53 22.6% 5 20% - - - NULL ESPL1 9700 genome.wustl.edu 37 12 53677873 53677873 + Silent SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_012291.4 +1 validated p.L1037 1.000 188 0% 142 23.9% 6 50% - - - NULL LRP1 4035 genome.wustl.edu 37 12 57579374 57579374 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_002332.2 +1 reviewed p.R2175H 0.003 21 0% 26 30.8% 1 100% possibly_damaging(0.778) tolerated(0.13) deleterious(0.543) HMMSmart_SM00181,superfamily_EGF/Laminin UHRF1BP1L 23074 genome.wustl.edu 37 12 100453250 100453250 + Missense_Mutation SNP A A G novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_015054.1 -1 validated p.I602T 1.000 167 0% 197 25.9% 8 12.5% benign(0.41) deleterious(0.02) deleterious(0.516) NULL KCTD10 83892 genome.wustl.edu 37 12 109907437 109907437 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_031954.3 -1 provisional p.V34M 1.000 75 0% 65 33.8% 1 100% probably_damaging(0.976) deleterious(0) deleterious(0.863) HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain ATXN2 6311 genome.wustl.edu 37 12 111954025 111954025 + Silent SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_002973.3 -1 reviewed p.P596 1.000 43 0% 53 35.8% 2 100% - - - NULL NAA25 80018 genome.wustl.edu 37 12 112512493 112512495 + In_Frame_Del DEL AGG AGG - novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_024953.3 -1 reviewed p.P284in_frame_del 0.995:1.000:1.000 - - - - - - - - - HMMPfam_NatB_MDM20,superfamily_TPR-like NOS1 4842 genome.wustl.edu 37 12 117680487 117680487 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_000620.2 -1 reviewed p.R996* 1.000 170 0% 211 31.3% 0 - - - - HMMPfam_FAD_binding_1,superfamily_Riboflavin synthase domain-like ORAI1 84876 genome.wustl.edu 37 12 122064774 122064779 + In_Frame_Del DEL CCGCCA CCGCCA - rs141919534 byCluster;by1000genomes TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 CCGCCA CCGCCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_032790.3 +1 reviewed p.PP46in_frame_del 0.716:0.710:0.709:0.897:0.997:0.999 - - - - - - - - - NULL DNAH10 196385 genome.wustl.edu 37 12 124274538 124274538 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_207437.3 +1 validated p.R501H 0.994 299 0% 271 35.8% 0 - possibly_damaging(0.938) tolerated(0.13) deleterious(0.636) HMMPfam_DHC_N1 PUS1 80324 genome.wustl.edu 37 12 132414616 132414616 + Missense_Mutation SNP A A G novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_025215.5 +1 reviewed p.K80R 0.406 5 0.000 10 0.400 24 41.6% benign(0.051) tolerated(0.26) neutral(0.037) NULL LATS2 26524 genome.wustl.edu 37 13 21549368 21549368 + Missense_Mutation SNP G G T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_014572.2 -1 reviewed p.H970N 1.000 57 0% 55 32.7% 5 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase KCTD4 386618 genome.wustl.edu 37 13 45768145 45768147 + In_Frame_Del DEL CTC CTC - novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_198404.2 -1 validated p.E186in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL ZC3H13 23091 genome.wustl.edu 37 13 46543258 46543258 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_015070.3 -1 validated p.A1141T 0.012 221 0% 228 35.1% 19 42.1% unknown(0) tolerated(0.07) - NULL ITM2B 9445 genome.wustl.edu 37 13 48832986 48833003 + In_Frame_Del DEL TGATCGCATTGAAAACAT TGATCGCATTGAAAACAT - novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 TGATCGCATTGAAAACAT TGATCGCATTGAAAACAT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_021999.4 +1 reviewed p.RIENID208in_frame_del 0.996:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.998:0.997:0.975:0.007:0.014:0.185 - - - - - - - - - HMMPfam_BRICHOS PCDH20 64881 genome.wustl.edu 37 13 61986559 61986559 + Missense_Mutation SNP T T C novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_022843.3 -1 validated p.Y558C 0.998 405 0% 360 24.7% 1 0% possibly_damaging(0.853) tolerated(0.09) deleterious(0.625) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin DOCK9 23348 genome.wustl.edu 37 13 99449400 99449400 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e ENST00000357329 -1 known p.A2057V 0.998 54 0% 54 38.9% 9 0% benign(0.001) tolerated(1) - HMMPfam_Ded_cyto DOCK9 23348 genome.wustl.edu 37 13 99630081 99630081 + Missense_Mutation SNP G G C novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001130050.1 -1 validated p.A28G 0.995 33 0% 27 14.8% 1 0% possibly_damaging(0.466) tolerated(0.48) neutral(0.164) NULL CARS2 79587 genome.wustl.edu 37 13 111340095 111340095 + Missense_Mutation SNP G G C novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_024537.2 -1 validated p.R182G 0.283 664 0% 695 34.7% 34 38.2% benign(0.12) deleterious(0.02) neutral(0.393) HMMPfam_tRNA-synt_1e,superfamily_SSF52374 ING1 3621 genome.wustl.edu 37 13 111372117 111372117 + Silent SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_005537.3 +1 reviewed p.C369 0.225 82 0% 55 34.5% 31 45.1% - - - HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger,PatternScan_ZF_PHD_1,HMMPfam_PHD OR4K2 390431 genome.wustl.edu 37 14 20344613 20344613 + Missense_Mutation SNP C C A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001005501.1 +1 provisional p.L63I 0.978 690 0% 732 19.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like FAM179B 23116 genome.wustl.edu 37 14 45431784 45431784 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_015091.2 +1 validated p.A54T 0.997 62 0% 72 38.9% 0 - possibly_damaging(0.78) deleterious(0) deleterious(0.736) NULL ENSG00000248934 0 genome.wustl.edu 37 14 50089381 50089381 + RNA SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e ENST00000504161 -1 novel NULL 0.005 43 2.3% 37 40.5% 32 53.1% - - - - NID2 22795 genome.wustl.edu 37 14 52507510 52507510 + Missense_Mutation SNP T T C novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_007361.3 -1 validated p.I629V 0.925 149 0% 140 40.7% 7 0% benign(0.001) tolerated(0.13) neutral(0.253) HMMPfam_G2F,HMMSmart_SM00682,superfamily_GFP-like FERMT2 10979 genome.wustl.edu 37 14 53348037 53348037 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001134999.1 -1 validated p.P226L 1.000 308 0% 346 36.4% 2 0% probably_damaging(1) tolerated(0.29) deleterious(0.529) HMMSmart_B41 EXOC5 10640 genome.wustl.edu 37 14 57675341 57675341 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_006544.3 -1 reviewed p.R705* 1.000 347 0.3% 321 30.2% 8 37.5% - - - HMMPfam_Sec10 NAA30 122830 genome.wustl.edu 37 14 57863563 57863563 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001011713.2 +1 validated p.V289M 1.000 128 0% 161 34.2% 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Acetyltransf_1,superfamily_Acyl-CoA N-acyltransferases (Nat) PIGH 5283 genome.wustl.edu 37 14 68059352 68059352 + Missense_Mutation SNP C C A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_004569.3 -1 reviewed p.Q158H 1.000 21 0% 31 41.9% 15 6.6% probably_damaging(0.992) tolerated(0.06) deleterious(0.770) HMMPfam_PIG-H ESRRB 2103 genome.wustl.edu 37 14 76949101 76949101 + Silent SNP A A G novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_004452.3 +1 reviewed p.P262 1.000 87 2.3% 72 26.4% 0 - - - - HMMPfam_Hormone_recep,HMMSmart_HOLI,superfamily_Str_ncl_receptor ANGEL1 23357 genome.wustl.edu 37 14 77257706 77257706 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_015305.3 -1 validated p.R541Q 1.000 97 0% 123 22% 3 33.3% possibly_damaging(0.95) tolerated(0.48) neutral(0.404) HMMPfam_Exo_endo_phos,superfamily_Exo_endo_phos ISM2 145501 genome.wustl.edu 37 14 77942010 77942010 + Silent SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_199296.2 -1 reviewed p.N548 0.869 112 0.9% 65 32.3% 0 - - - - HMMPfam_AMOP,HMMSmart_SM00723 MOAP1 64112 genome.wustl.edu 37 14 93649974 93649974 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_022151.4 -1 reviewed p.R205Q 0.000 169 0% 113 23.9% 18 33.3% probably_damaging(0.997) tolerated(0.29) deleterious(0.495) NULL AK7 122481 genome.wustl.edu 37 14 96924484 96924484 + Missense_Mutation SNP A A C novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_152327.2 +1 validated p.E431A 0.994 86 0% 68 32.4% 2 100% benign(0.148) tolerated(0.12) neutral(0.274) superfamily_P-loop containing nucleoside triphosphate hydrolases ZNF839 55778 genome.wustl.edu 37 14 102793109 102793109 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_018335.3 +1 validated p.C359Y 0.001 35 0% 28 42.9% 10 50% possibly_damaging(0.92) deleterious(0) deleterious(0.816) NULL KLC1 3831 genome.wustl.edu 37 14 104123900 104123900 + Frame_Shift_Del DEL A A - novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001130107.1 +1 reviewed p.N94fs 0.195 - - - - - - - - - HMMPfam_Rab5-bind,superfamily_TPR-like BRF1 2972 genome.wustl.edu 37 14 105684092 105684092 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001519.2 -1 reviewed p.A521T 0.996 12 0% 11 36.4% 60 53.3% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_BRF1 FMN1 342184 genome.wustl.edu 37 15 33359120 33359120 + Silent SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001103184.2 -1 validated p.G322 0.459 126 0% 132 21.2% 0 - - - - NULL VPS18 57617 genome.wustl.edu 37 15 41192187 41192187 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_020857.2 +1 reviewed p.V391M 0.993 76 0% 54 33.3% 4 100% possibly_damaging(0.911) deleterious(0) deleterious(0.807) HMMPfam_Pep3_Vps18 VPS18 57617 genome.wustl.edu 37 15 41192978 41192978 + Silent SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_020857.2 +1 reviewed p.N654 0.203 70 0% 58 24.1% 11 9% - - - superfamily_ARM repeat PLA2G4F 255189 genome.wustl.edu 37 15 42446526 42446526 + Silent SNP A A G novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_213600.3 -1 validated p.A105 0.996 99 0% 84 31% 2 0% - - - HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) CGNL1 84952 genome.wustl.edu 37 15 57744427 57744427 + Missense_Mutation SNP A A G novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_032866.3 +1 validated p.N665S 0.298 190 0% 239 31.4% 2 50% benign(0) tolerated(0.74) neutral(0.002) NULL SLC24A1 9187 genome.wustl.edu 37 15 65943203 65943203 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_004727.2 +1 validated p.Q906* 0.985 159 0% 145 35.2% 6 0% - - - NULL SEMA7A 8482 genome.wustl.edu 37 15 74703165 74703165 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_003612.3 -1 reviewed p.E601K 1.000 50 0% 46 28.3% 12 8.3% possibly_damaging(0.521) tolerated(0.83) neutral(0.176) HMMSmart_IG,superfamily_SSF48726 PTPN9 5780 genome.wustl.edu 37 15 75763041 75763041 + Missense_Mutation SNP G G C novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_002833.2 -1 reviewed p.L447V 0.996 299 0% 329 36.2% 14 50% probably_damaging(0.971) deleterious(0.01) deleterious(0.819) HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799 AKAP13 11214 genome.wustl.edu 37 15 86273806 86273806 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_006738.4 +1 reviewed p.R2388W 1.000 735 0% 835 36.2% 7 28.5% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL LRRK1 79705 genome.wustl.edu 37 15 101566277 101566277 + Silent SNP A A G novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_024652.3 +1 validated p.A780 0.291 73 0% 60 36.7% 6 16.6% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases RHBDF1 64285 genome.wustl.edu 37 16 111830 111830 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_022450.3 -1 validated p.V392I 0.999 12 0.000 5 0.800 19 47.3% possibly_damaging(0.636) tolerated(0.3) neutral(0.251) NULL LOC100132779 100132779 genome.wustl.edu 37 16 2816500 2816500 + Missense_Mutation SNP C C A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e XM_001721252.2 -1 model p.R85L 0.386 219 0% 223 37.7% 90 42.2% - - - NULL PRSS21 10942 genome.wustl.edu 37 16 2868830 2868830 + Missense_Mutation SNP A A G novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_006799.2 +1 reviewed p.D137G 1.000 138 0% 132 32.6% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases ENSG00000232055 0 genome.wustl.edu 37 16 2972982 2972982 + Silent SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e ENST00000429401 -1 known p.Q45 0.947 43 0% 45 33.3% 0 - - - - HMMPfam_Ribosomal_L23eN ADCY9 115 genome.wustl.edu 37 16 4165123 4165123 + Silent SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001116.2 -1 reviewed p.R107 0.989 22 0.000 7 0.714 1 0% - - - NULL TMC7 79905 genome.wustl.edu 37 16 19047102 19047102 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_024847.3 +1 validated p.S321N 0.963 198 0% 207 38.2% 2 0% benign(0) tolerated(0.46) neutral(0.012) NULL UMOD 7369 genome.wustl.edu 37 16 20352634 20352634 + Silent SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001008389.1 -1 reviewed p.G452 0.962 47 0% 53 37.7% 1 100% - - - HMMPfam_Zona_pellucida,HMMSmart_SM00241 NSMCE1 197370 genome.wustl.edu 37 16 27238129 27238129 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_145080.3 -1 validated p.R171Q 1.000 117 0% 94 27.7% 259 44.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SMC_Nse1 NFATC2IP 84901 genome.wustl.edu 37 16 28963492 28963492 + Missense_Mutation SNP C C A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_032815.3 +1 validated p.L143I 0.956 171 0% 206 25.7% 14 28.5% possibly_damaging(0.791) tolerated(0.1) deleterious(0.583) NULL SEZ6L2 26470 genome.wustl.edu 37 16 29889699 29889700 + Frame_Shift_Del DEL GA GA - novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_201575.2 -1 validated p.P541fs 1.000:1.000 - - - - - - - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain TBC1D10B 26000 genome.wustl.edu 37 16 30376910 30376911 + Frame_Shift_Del DEL CT CT - novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_015527.3 -1 validated p.S321fs 1.000:1.000 - - - - - - - - - NULL SRCAP 10847 genome.wustl.edu 37 16 30723431 30723431 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_006662.2 +1 validated p.A590T 1.000 261 0% 312 32.4% 8 12.5% unknown(0) - - NULL PHKG2 5261 genome.wustl.edu 37 16 30768328 30768328 + Silent SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_000294.2 +1 reviewed p.R377 0.988 103 0% 92 39.1% 126 45.2% - - - NULL LOC100132941 100132941 genome.wustl.edu 37 16 33006536 33006536 + Missense_Mutation SNP G G T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e XM_001718037.2 +1 model p.E20D 0.908 306 0% 268 29.1% 0 - benign(0.185) tolerated(0.14) neutral(0.267) HMMPfam_V-set IRX6 79190 genome.wustl.edu 37 16 55360346 55360346 + Silent SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_024335.2 +1 validated p.C48 1.000 13 0% 17 64.7% 0 - - - - NULL GPR114 221188 genome.wustl.edu 37 16 57600601 57600601 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_153837.1 +1 provisional p.Q213* 0.125 111 0% 96 34.4% 6 0% - - - HMMPfam_GPS,HMMSmart_SM00303 GPR114 221188 genome.wustl.edu 37 16 57608738 57608738 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_153837.1 +1 provisional p.R407Q 0.000 31 0% 28 50% 3 33.3% benign(0.089) tolerated(0.29) neutral(0.036) HMMPfam_7tm_2 CNGB1 1258 genome.wustl.edu 37 16 57935330 57935330 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001297.4 -1 reviewed p.R968W 1.000 126 0% 113 32.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00100,superfamily_cAMP-binding domain-like MMP15 4324 genome.wustl.edu 37 16 58074473 58074473 + Silent SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_002428.2 +1 reviewed p.L261 1.000 41 0% 26 38.5% 24 66.6% - - - HMMPfam_Peptidase_M10,PatternScan_ZINC_PROTEASE,HMMSmart_ZnMc,superfamily_SSF55486 NFATC3 4775 genome.wustl.edu 37 16 68191841 68191841 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_173165.1 +1 reviewed p.R491* 1.000 72 0% 70 28.6% 4 0% - - - superfamily_p53-like transcription factors,HMMPfam_RHD MARVELD3 91862 genome.wustl.edu 37 16 71674369 71674369 + Silent SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001017967.2 +1 validated p.A224 0.442 93 0% 93 28% 13 46.1% - - - HMMPfam_MARVEL ZNF821 55565 genome.wustl.edu 37 16 71898924 71898924 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_017530.1 -1 provisional p.T23M 1.000 242 0% 320 36.6% 7 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL ADAMTS18 170692 genome.wustl.edu 37 16 77353782 77353782 + Silent SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_199355.2 -1 reviewed p.Y832 0.927 127 0% 120 30.8% 1 0% - - - HMMPfam_ADAM_spacer1 SLC38A8 146167 genome.wustl.edu 37 16 84050238 84050238 + Silent SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001080442.1 -1 provisional p.L350 0.704 81 0% 55 27.3% 0 - - - - HMMPfam_Aa_trans DNAAF1 123872 genome.wustl.edu 37 16 84209610 84209610 + Silent SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_178452.4 +1 reviewed p.T590 0.000 53 0% 46 43.5% 26 38.4% - - - NULL ATP2C2 9914 genome.wustl.edu 37 16 84438647 84438647 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e ENST00000420010 +1 known p.A59T 0.000 48 0% 55 41.8% 4 75% - - - NULL ANKRD11 29123 genome.wustl.edu 37 16 89371699 89371699 + Silent SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_013275.4 -1 validated p.G47 0.829 34 0% 39 28.2% 25 36% - - - NULL OR1E2 8388 genome.wustl.edu 37 17 3336822 3336824 + In_Frame_Del DEL AAG AAG - novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_003554.1 -1 provisional p.F104in_frame_del 0.809:0.758:0.748 - - - - - - - - - HMMPfam_7tm_1,superfamily_SSF81321 ZZEF1 23140 genome.wustl.edu 37 17 3937462 3937462 + Missense_Mutation SNP A A T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_015113.3 -1 validated p.I2144N 0.925 301 0% 285 37.5% 5 40% possibly_damaging(0.906) deleterious(0) deleterious(0.804) NULL POLR2A 5430 genome.wustl.edu 37 17 7399263 7399263 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_000937.3 +1 validated p.R33* 1.000 133 0% 97 23.7% 15 26.6% - - - HMMPfam_RNA_pol_Rpb1_1,superfamily_SSF64484 ODF4 146852 genome.wustl.edu 37 17 8243825 8243825 + Splice_Site SNP T T C novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_153007.4 +1 reviewed e1+2 0.996 40 0% 43 34.9% 0 - - - - - MYH10 4628 genome.wustl.edu 37 17 8393676 8393678 + In_Frame_Del DEL CTT CTT - novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_005964.1 -1 validated p.K1591in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_Myosin_tail_1 MYH10 4628 genome.wustl.edu 37 17 8508247 8508247 + Missense_Mutation SNP A A C novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_005964.1 -1 validated p.I133M 1.000 163 0% 159 36.5% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases PIK3R5 23533 genome.wustl.edu 37 17 8793325 8793325 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001142633.1 -1 validated p.A259V 0.886 48 0% 54 40.7% 0 - benign(0.027) tolerated(0.3) neutral(0.030) HMMPfam_PI3K_1B_p101 DHRS7C 201140 genome.wustl.edu 37 17 9676238 9676238 + Silent SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001105571.1 -1 validated p.Y191 0.171 36 0% 33 33.3% 0 - - - - HMMPfam_adh_short,PatternScan_ADH_SHORT,superfamily_NAD(P)-binding Rossmann-fold domains MYH8 4626 genome.wustl.edu 37 17 10298509 10298509 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_002472.2 -1 reviewed p.A1635T 1.000 448 0% 458 33.2% 0 - benign(0.085) deleterious(0.03) neutral(0.370) HMMPfam_Myosin_tail_1 FLII 2314 genome.wustl.edu 37 17 18157905 18157905 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_002018.2 -1 reviewed p.Q169* 1.000 15 0.000 8 0.500 13 7.6% - - - HMMPfam_LRR_1,superfamily_SSF52058 TRIM16L 147166 genome.wustl.edu 37 17 18638275 18638275 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e ENST00000414850 +1 known p.R96H 0.857 130 0.8% 115 31.3% 12 33.3% unknown(0) - - NULL PIGS 94005 genome.wustl.edu 37 17 26888605 26888605 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_033198.3 -1 reviewed p.R171W 0.688 31 0% 42 40.5% 18 27.7% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_PIG-S KIAA0100 9703 genome.wustl.edu 37 17 26964065 26964065 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_014680.2 -1 validated p.C632Y 1.000 108 0% 97 40.2% 12 50% possibly_damaging(0.796) deleterious(0.03) deleterious(0.663) NULL SUPT6H 6830 genome.wustl.edu 37 17 27001302 27001303 + In_Frame_Ins INS - - GAG novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_003170.3 +1 validated p.41in_frame_insE 1.000:1.000 - - - - - - - - - NULL NF1 4763 genome.wustl.edu 37 17 29556974 29556974 + Missense_Mutation SNP T T A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001042492.2 +1 reviewed p.M991K 1.000 402 0% 397 32.2% 3 0% benign(0.32) deleterious(0) deleterious(0.544) NULL ENSG00000228768 0 genome.wustl.edu 37 17 29902590 29902590 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e ENST00000412403 +1 known p.G123R 0.000 62 0% 59 44.1% 0 - unknown(0) - - NULL GPR179 440435 genome.wustl.edu 37 17 36482505 36482506 + Frame_Shift_Ins INS - - A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001004334.2 -1 validated p.S2316fs 0.535:0.305 - - - - - - - - - NULL WNK4 65266 genome.wustl.edu 37 17 40939903 40939903 + Missense_Mutation SNP C C A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_032387.4 +1 reviewed p.L617I 1.000 112 0% 77 36.4% 4 0% possibly_damaging(0.85) deleterious(0.01) deleterious(0.733) superfamily_Protein kinase-like (PK-like) WNK4 65266 genome.wustl.edu 37 17 40947634 40947634 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e ENST00000316085 +1 known p.A601T 0.000 120 0% 111 33.3% 3 33.3% benign(0.003) deleterious(0) neutral(0.445) NULL GPATCH8 23131 genome.wustl.edu 37 17 42501838 42501838 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001002909.1 -1 validated p.A124V 1.000 140 0% 181 29.8% 3 66.6% unknown(0) deleterious(0.02) - NULL GFAP 2670 genome.wustl.edu 37 17 42987845 42987845 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e ENST00000376990 -1 known p.R437C 0.000 30 0% 27 18.5% 0 - - - - NULL TBKBP1 9755 genome.wustl.edu 37 17 45777037 45777037 + Silent SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_014726.2 +1 validated p.A282 0.009 177 0% 185 36.8% 1 100% - - - NULL SAMD14 201191 genome.wustl.edu 37 17 48193422 48193422 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_174920.2 -1 provisional p.A178T 0.991 43 0% 26 42.3% 3 0% benign(0.138) tolerated(0.06) neutral(0.334) NULL MSI2 124540 genome.wustl.edu 37 17 55729505 55729505 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_138962.2 +1 reviewed p.A258V 1.000 25 0% 16 62.5% 7 42.8% benign(0) tolerated(0.06) neutral(0.323) NULL USP32 84669 genome.wustl.edu 37 17 58288869 58288869 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_032582.3 -1 validated p.T729I 1.000 278 0% 273 31.1% 2 50% possibly_damaging(0.778) tolerated(0.26) neutral(0.325) superfamily_SSF54001 CACNG4 27092 genome.wustl.edu 37 17 65026991 65026991 + Missense_Mutation SNP G G T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_014405.2 +1 reviewed p.K285N 0.998 216 0% 210 28.1% 0 - possibly_damaging(0.891) tolerated(0.06) deleterious(0.673) NULL BPTF 2186 genome.wustl.edu 37 17 65890165 65890165 + Missense_Mutation SNP G G T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_182641.3 +1 reviewed p.K809N 1.000 220 0% 257 40.1% 2 50% probably_damaging(0.996) tolerated(0.45) deleterious(0.474) NULL SDK2 54549 genome.wustl.edu 37 17 71384114 71384114 + Silent SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001144952.1 -1 provisional p.L1419 1.000 5 0.000 12 0.333 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III QRICH2 84074 genome.wustl.edu 37 17 74274129 74274129 + Silent SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_032134.1 -1 provisional p.S1520 1.000 23 0% 41 22% 9 22.2% - - - NULL BAIAP2 10458 genome.wustl.edu 37 17 79058634 79058634 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_017451.2 +1 reviewed p.D74N 1.000 84 0% 70 40% 29 34.4% possibly_damaging(0.618) tolerated(0.23) neutral(0.257) HMMPfam_IMD YES1 7525 genome.wustl.edu 37 18 745962 745963 + Frame_Shift_Del DEL CT CT - novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_005433.3 -1 reviewed p.S187fs 1.000:1.000 - - - - - - - - - HMMPfam_SH2,HMMSmart_SH2,superfamily_SSF55550 TGIF1 7050 genome.wustl.edu 37 18 3456426 3456426 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_170695.2 +1 reviewed p.A160T 0.788 368 0% 410 32.7% 117 42.7% benign(0.061) deleterious(0.03) neutral(0.368) NULL IMPACT 55364 genome.wustl.edu 37 18 22029916 22029916 + Missense_Mutation SNP C C A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_018439.3 +1 validated p.P298H 0.979 151 0% 174 37.9% 9 33.3% possibly_damaging(0.655) tolerated(0.11) deleterious(0.502) superfamily_Ribosomal protein S5 domain 2-like FAM59A 64762 genome.wustl.edu 37 18 29850248 29850248 + Silent SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_022751.1 -1 provisional p.K555 0.997 55 0% 48 27.1% 3 33.3% - - - NULL FHOD3 80206 genome.wustl.edu 37 18 34335237 34335237 + Missense_Mutation SNP G G C novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_025135.2 +1 validated p.R1288T 1.000 56 0% 51 41.2% 2 0% possibly_damaging(0.649) deleterious(0) deleterious(0.672) HMMSmart_FH2,superfamily_FH2_actin_bd SLC14A2 8170 genome.wustl.edu 37 18 43205663 43205663 + Missense_Mutation SNP A A C novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_007163.3 +1 validated p.N56H 0.318 159 0% 131 37.4% 0 - possibly_damaging(0.708) deleterious(0.01) deleterious(0.661) NULL KATNAL2 83473 genome.wustl.edu 37 18 44626686 44626686 + Missense_Mutation SNP C C A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_031303.2 +1 validated p.P407H 1.000 171 0% 175 22.3% 0 - probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_AAA,superfamily_SSF52540 MYO5B 4645 genome.wustl.edu 37 18 47383252 47383252 + Missense_Mutation SNP T T A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001080467.2 -1 reviewed p.E1318V 1.000 108 0% 89 29.2% 0 - benign(0.07) tolerated(0.11) neutral(0.277) NULL RAX 30062 genome.wustl.edu 37 18 56939726 56939726 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_013435.2 -1 reviewed p.R137Q 1.000 81 0% 32 40.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like SERPINB7 8710 genome.wustl.edu 37 18 61471761 61471761 + Silent SNP A A T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001040147.1 +1 validated p.V345 0.481 128 0% 151 37.1% 0 - - - - HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin MBP 4155 genome.wustl.edu 37 18 74696818 74696818 + Silent SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001025101.1 -1 reviewed p.Y261 0.995 55 0% 36 44.4% 0 - - - - HMMPfam_Myelin_MBP CTDP1 9150 genome.wustl.edu 37 18 77464901 77464901 + Silent SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_004715.3 +1 reviewed p.Y252 0.810 58 0% 62 35.5% 11 18.1% - - - HMMPfam_NIF,HMMSmart_SM00577,superfamily_HAD-like RBFA 79863 genome.wustl.edu 37 18 77804271 77804271 + Missense_Mutation SNP A A G novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e ENST00000262197 +1 known p.Y184C 0.000 75 0% 96 36.5% 29 34.4% unknown(0) - - NULL ENSG00000005206 0 genome.wustl.edu 37 19 2337594 2337594 + Silent SNP C C T rs192000517 by1000genomes TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e ENST00000452401 +1 known p.R113 0.078 30 0% 15 40% 18 44.4% - - - HMMPfam_PA,superfamily_Transferrin receptor ectodomain apical domain NFIC 4782 genome.wustl.edu 37 19 3382029 3382029 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_205843.1 +1 validated p.R108H 1.000 34 0% 34 35.3% 13 46.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MH1,HMMSmart_SM00523 STAP2 55620 genome.wustl.edu 37 19 4324566 4324566 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_017720.2 -1 reviewed p.V391M 0.001 11 0% 14 42.9% 45 22.2% unknown(0) tolerated(0.4) - NULL PLIN3 10226 genome.wustl.edu 37 19 4847878 4847878 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_005817.4 -1 reviewed p.G220D 0.846 25 0% 27 44.4% 45 37.7% benign(0.197) deleterious(0.03) neutral(0.383) HMMPfam_Perilipin,superfamily_Mannose-6-phosphate receptor binding protein 1 (Tip47) C-terminal domain C3 718 genome.wustl.edu 37 19 6684437 6684437 + Missense_Mutation SNP C C A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_000064.2 -1 reviewed p.Q1378H 1.000 261 0% 301 32.9% 108 0% benign(0) tolerated(0.17) neutral(0.059) superfamily_Alpha-macroglobulin receptor domain TIMM44 10469 genome.wustl.edu 37 19 8002912 8002912 + Silent SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_006351.3 -1 validated p.Y104 0.985 195 0% 146 36.3% 52 26.9% - - - NULL FBN3 84467 genome.wustl.edu 37 19 8159445 8159445 + Missense_Mutation SNP G G T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e ENST00000341066 -1 known p.P50Q 1.000 37 0% 53 28.3% 0 - possibly_damaging(0.903) - - NULL HNRNPM 4670 genome.wustl.edu 37 19 8520458 8520458 + Missense_Mutation SNP G G T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_005968.3 +1 validated p.V95F 1.000 233 0% 267 21.7% 98 0% benign(0.413) tolerated(0.06) neutral(0.456) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD DNMT1 1786 genome.wustl.edu 37 19 10260303 10260303 + Silent SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001130823.1 -1 reviewed p.N804 0.003 208 0.5% 268 72.4% 31 64.5% - - - HMMPfam_BAH,HMMSmart_SM00439 AP1M2 10053 genome.wustl.edu 37 19 10685603 10685603 + Missense_Mutation SNP A A G novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_005498.4 -1 reviewed p.Y384H 1.000 35 0% 29 24.1% 222 54% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Adap_comp_sub,superfamily_Second domain of Mu2 adaptin subunit (ap50) of ap2 adaptor SLC44A2 57153 genome.wustl.edu 37 19 10745669 10745669 + Silent SNP T T C novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_020428.3 +1 validated p.L325 0.525 233 0% 198 67.2% 80 72.5% - - - HMMPfam_DUF580 ZNF653 115950 genome.wustl.edu 37 19 11597919 11597919 + Missense_Mutation SNP G G C novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_138783.3 -1 validated p.P409R 0.721 112 0% 79 30.4% 20 60% benign(0.219) deleterious(0.01) neutral(0.427) NULL KLF1 10661 genome.wustl.edu 37 19 12995838 12995838 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_006563.3 -1 reviewed p.G317D 1.000 22 0% 19 42.1% 0 - probably_damaging(0.99) tolerated(0.7) neutral(0.444) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 RFX1 5989 genome.wustl.edu 37 19 14092936 14092936 + Silent SNP T T C rs35255340 TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_002918.4 -1 validated p.P206 0.059 9 0.000 9 0.556 4 25% - - - NULL NOTCH3 4854 genome.wustl.edu 37 19 15278084 15278084 + Missense_Mutation SNP T T C novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_000435.2 -1 reviewed p.M1780V 1.000 171 0% 120 44.2% 53 9.4% benign(0) tolerated(0.5) neutral(0.010) superfamily_Ankyrin repeat NOTCH3 4854 genome.wustl.edu 37 19 15298094 15298094 + Silent SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_000435.2 -1 reviewed p.C554 0.999 26 0% 30 23.3% 16 18.7% - - - HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_CA,superfamily_EGF/Laminin AKAP8 10270 genome.wustl.edu 37 19 15484083 15484083 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_005858.2 -1 reviewed p.R147H 0.892 23 0% 22 40.9% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CYP4F8 11283 genome.wustl.edu 37 19 15734054 15734054 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_007253.3 +1 reviewed p.W262* 0.998 96 0% 102 34.3% 0 - probably_damaging(0.962) deleterious(0.01) deleterious(0.810) NULL OR10H1 26539 genome.wustl.edu 37 19 15918479 15918479 + Silent SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_013940.2 -1 validated p.Y123 0.362 122 0% 137 37.2% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 AP1M1 8907 genome.wustl.edu 37 19 16318944 16318944 + Missense_Mutation SNP A A G novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001130524.1 +1 reviewed p.S128G 1.000 127 0% 136 33.1% 25 32% benign(0.001) tolerated(0.13) neutral(0.253) superfamily_Longin_like MED26 9441 genome.wustl.edu 37 19 16687990 16687990 + Missense_Mutation SNP G G T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_004831.3 -1 validated p.H217Q 0.942 40 0% 22 31.8% 8 25% probably_damaging(0.998) tolerated(0.17) deleterious(0.533) NULL MED26 9441 genome.wustl.edu 37 19 16688023 16688023 + Missense_Mutation SNP G G T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e ENST00000453758 -1 known p.Q88K 0.340 46 0% 18 27.8% 8 25% benign(0.242) deleterious(0) deleterious(0.469) NULL FKBP8 23770 genome.wustl.edu 37 19 18643550 18643550 + Frame_Shift_Del DEL G G - novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_012181.3 -1 reviewed p.T360fs 0.944 - - - - - - - - - superfamily_SSF48452 GMIP 51291 genome.wustl.edu 37 19 19745360 19745360 + Silent SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_016573.2 -1 reviewed p.D680 0.616 70 0% 47 31.9% 16 18.7% - - - HMMPfam_RhoGAP,HMMSmart_RhoGAP,superfamily_Rho_GAP ENSG00000231205 0 genome.wustl.edu 37 19 20607678 20607678 + Missense_Mutation SNP A A G novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e ENST00000502675 -1 known p.I25T 0.002 39 0% 35 25.7% 0 - - - - NULL URI1 8725 genome.wustl.edu 37 19 30496574 30496574 + Missense_Mutation SNP T T C novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_003796.2 +1 reviewed p.V159A 1.000 152 0% 150 20.7% 18 27.7% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) NULL HPN 3249 genome.wustl.edu 37 19 35556502 35556502 + Missense_Mutation SNP A A G novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_002151.2 +1 reviewed p.N323D 1.000 48 0% 52 32.7% 36 55.5% probably_damaging(0.982) deleterious(0.01) deleterious(0.832) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys RBM42 79171 genome.wustl.edu 37 19 36128132 36128132 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_024321.3 +1 provisional p.R403H 1.000 55 0% 42 40.5% 339 41% unknown(0) deleterious(0.02) - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD IGFLR1 79713 genome.wustl.edu 37 19 36230802 36230802 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_024660.2 -1 provisional p.A177V 0.019 50 0% 67 41.8% 25 4% unknown(0) tolerated(1) - NULL ALKBH6 84964 genome.wustl.edu 37 19 36501828 36501828 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_032878.3 -1 validated p.V130M 0.956 52 0% 46 26.1% 53 28.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_2OG-FeII_Oxy IL28A 282616 genome.wustl.edu 37 19 39760411 39760411 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_172138.1 +1 reviewed p.R152W 0.003 50 0% 44 29.5% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL CYP2B7P1 1556 genome.wustl.edu 37 19 41442084 41442084 + RNA SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NR_001278.1 +1 provisional NULL 0.330 90 0% 90 36.7% 0 - probably_damaging(0.978) deleterious(0) deleterious(0.865) - GSK3A 2931 genome.wustl.edu 37 19 42744129 42744129 + Missense_Mutation SNP A A G novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_019884.2 -1 validated p.V150A 1.000 28 0% 32 18.8% 44 27.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase FOXA3 3171 genome.wustl.edu 37 19 46375711 46375711 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_004497.2 +1 reviewed p.L150F 1.000 284 0% 320 28.7% 8 50% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Fork_head,HMMSmart_FH,superfamily_SSF46785 RPL18 6141 genome.wustl.edu 37 19 49119901 49119905 + Frame_Shift_Del DEL CAGCA CAGCA - rs111332848 TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 CAGCA CAGCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e ENST00000450952 -1 known p.V125fs 0.000:0.000:0.000:0.000:0.000 - - - - - - - - - NULL MAMSTR 284358 genome.wustl.edu 37 19 49216631 49216631 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001130915.1 -1 validated p.G381R 1.000 24 0% 22 50% 4 25% unknown(0) deleterious(0) - NULL ZNF432 9668 genome.wustl.edu 37 19 52537844 52537844 + Missense_Mutation SNP T T C novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_014650.2 -1 provisional p.H363R 0.988 403 0% 351 37.6% 5 80% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF880 400713 genome.wustl.edu 37 19 52887739 52887739 + Silent SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001145434.1 +1 validated p.G302 0.996 219 0% 267 32.2% 3 33.3% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF845 91664 genome.wustl.edu 37 19 53855458 53855458 + Silent SNP T T C novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_138374.1 +1 validated p.L510 0.000 237 0% 306 32.4% 1 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LENG8 114823 genome.wustl.edu 37 19 54964743 54964743 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_052925.2 +1 validated p.G112S 0.201 43 0% 30 26.7% 21 23.8% benign(0.002) tolerated(0.12) neutral(0.261) NULL NLRP5 126206 genome.wustl.edu 37 19 56538880 56538883 + Frame_Shift_Del DEL GTTA GTTA - novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 GTTA GTTA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_153447.4 +1 reviewed p.V429fs 0.041:0.000:0.000:0.000 - - - - - - - - - HMMPfam_NACHT LOC646698 646698 genome.wustl.edu 37 19 56758626 56758626 + Silent SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e XM_001725568.1 +1 model p.N418 0.000 37 0% 51 47.1% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers PEG3 5178 genome.wustl.edu 37 19 57326752 57326752 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_006210.2 -1 reviewed p.A1020T 0.004 238 0% 208 21.6% 0 - benign(0.188) tolerated(0.46) neutral(0.030) NULL PEG3 5178 genome.wustl.edu 37 19 57326820 57326820 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_006210.2 -1 reviewed p.S997F 0.994 287 0% 249 37.8% 1 0% probably_damaging(0.999) tolerated(0.43) deleterious(0.504) superfamily_C2H2 and C2HC zinc fingers ZNF547 284306 genome.wustl.edu 37 19 57879947 57879947 + Silent SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_173631.2 +1 validated p.Q8 0.041 103 0% 127 35.4% 2 0% - - - superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZSCAN1 284312 genome.wustl.edu 37 19 58564855 58564855 + Silent SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_182572.3 +1 validated p.L221 0.061 68 0% 62 24.2% 0 - - - - NULL ZNF584 201514 genome.wustl.edu 37 19 58921389 58921389 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_173548.1 +1 provisional p.L34F 0.007 144 0% 129 37.2% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box ZNF132 7691 genome.wustl.edu 37 19 58945739 58945739 + Missense_Mutation SNP T T C novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_003433.3 -1 validated p.N358D 0.000 121 0% 137 38% 0 - benign(0.418) tolerated(0.21) neutral(0.179) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SIGLEC1 6614 genome.wustl.edu 37 20 3672589 3672589 + Missense_Mutation SNP G G T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_023068.3 -1 reviewed p.L1431M 0.538 58 0% 33 33.3% 1 0% probably_damaging(0.996) deleterious(0.05) deleterious(0.807) HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Immunoglobulin C20orf196 149840 genome.wustl.edu 37 20 5753596 5753596 + Missense_Mutation SNP T T C novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_152504.2 +1 predicted p.Y29H 0.001 211 0% 200 35% 11 18.1% probably_damaging(0.996) tolerated(0.28) deleterious(0.493) NULL GZF1 64412 genome.wustl.edu 37 20 23345911 23345919 + In_Frame_Del DEL GGAGGAGGA GGAGGAGGA - novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 GGAGGAGGA GGAGGAGGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_022482.3 +1 validated p.EEE301in_frame_del 0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.001 - - - - - - - - - NULL HM13 81502 genome.wustl.edu 37 20 30142620 30142622 + In_Frame_Del DEL GTC GTC - novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 GTC GTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_178581.1 +1 reviewed p.V267in_frame_del 1.000:1.000:0.995 - - - - - - - - - HMMSmart_PSN,HMMPfam_Peptidase_A22B C20orf132 140699 genome.wustl.edu 37 20 35748243 35748243 + Splice_Site SNP T T C novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e ENST00000400441 -1 known e18-2 1.000 317 0% 244 29.1% 0 - - - - - RPRD1B 58490 genome.wustl.edu 37 20 36694564 36694564 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_021215.3 +1 validated p.A246V 1.000 191 0% 183 20.2% 11 27.2% possibly_damaging(0.932) tolerated(0.08) deleterious(0.678) NULL PLCG1 5335 genome.wustl.edu 37 20 39802942 39802942 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_002660.2 +1 reviewed p.R1275Q 0.992 144 0% 110 35.5% 84 35.7% benign(0.285) tolerated(0.12) neutral(0.348) NULL C20orf111 51526 genome.wustl.edu 37 20 42835571 42835571 + Missense_Mutation SNP C C A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_016470.6 -1 provisional p.E9D 0.998 180 0% 206 28.6% 13 46.1% benign(0.008) deleterious(0) neutral(0.445) HMMPfam_DUF776 STK4 6789 genome.wustl.edu 37 20 43615854 43615854 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_006282.2 +1 reviewed p.R148* 1.000 261 0% 273 36.6% 2 50% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase LOC100287206 100287206 genome.wustl.edu 37 20 47247258 47247258 + Missense_Mutation SNP G G T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e XM_002343709.1 +1 model p.W159L 0.000 30 0% 22 22.7% 0 - - - - NULL ZNFX1 57169 genome.wustl.edu 37 20 47864922 47864923 + Frame_Shift_Del DEL CA CA - novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_021035.2 -1 validated p.C1546fs 0.998:0.524 - - - - - - - - - HMMPfam_zf-NF-X1,HMMSmart_SM00438 TMEM189 387521 genome.wustl.edu 37 20 48746097 48746097 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_199129.2 -1 reviewed p.R155H 0.941 44 0% 52 50% 34 41.1% benign(0.244) tolerated(0.51) neutral(0.034) HMMPfam_Kua-UEV1_localn C20orf195 79025 genome.wustl.edu 37 20 62187307 62187307 + Silent SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_024059.2 +1 predicted p.S97 0.494 14 0% 15 26.7% 0 - - - - NULL BACH1 571 genome.wustl.edu 37 21 30698548 30698548 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001186.2 +1 reviewed p.A135T 0.902 270 0% 287 37.6% 1 0% benign(0.017) tolerated(0.31) neutral(0.028) NULL BRWD1 54014 genome.wustl.edu 37 21 40569083 40569083 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_018963.3 -1 reviewed p.T1971I 0.000 209 0% 198 37.4% 13 38.4% possibly_damaging(0.517) deleterious(0.05) deleterious(0.519) superfamily_WD40 repeat-like KRTAP10-4 386672 genome.wustl.edu 37 21 45994696 45994696 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_198687.1 +1 reviewed p.C354Y 1.000 284 0% 196 30.1% 0 - unknown(0) deleterious(0) - HMMPfam_Keratin_B2 CECR2 27443 genome.wustl.edu 37 22 18027933 18027933 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e ENST00000400573 +1 known p.Q964* 0.723 36 0% 30 20% 0 - - - - NULL PRODH 5625 genome.wustl.edu 37 22 18912654 18912654 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e ENST00000457083 -1 known p.W116* 0.980 35 0% 25 32% 24 37.5% benign(0.009) tolerated(0.14) neutral(0.250) NULL CRKL 1399 genome.wustl.edu 37 22 21288222 21288222 + Missense_Mutation SNP C C A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_005207.3 +1 reviewed p.P156H 1.000 352 0% 389 32.9% 14 42.8% probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,superfamily_SH2 domain C22orf23 84645 genome.wustl.edu 37 22 38343316 38343316 + Silent SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_032561.2 -1 predicted p.S107 0.997 91 0% 85 31.8% 5 20% - - - HMMPfam_UPF0193 DDX17 10521 genome.wustl.edu 37 22 38882079 38882079 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001098504.1 -1 reviewed p.R686Q 1.000 131 0% 103 32% 134 39.5% unknown(0) deleterious(0) - NULL MGAT3 4248 genome.wustl.edu 37 22 39884786 39884786 + Silent SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001098270.1 +1 reviewed p.S478 0.908 11 0% 15 33.3% 0 - - - - HMMPfam_Glyco_transf_17 TNRC6B 23112 genome.wustl.edu 37 22 40706951 40706951 + Silent SNP A A G novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e ENST00000446273 +1 known p.Q1149R 0.999 56 1.8% 46 26.1% 2 100% - - - NULL MCHR1 2847 genome.wustl.edu 37 22 41077241 41077241 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_005297.3 +1 reviewed p.A193V 1.000 167 0% 181 38.7% 0 - benign(0.048) tolerated(0.16) neutral(0.062) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like DNAJB7 150353 genome.wustl.edu 37 22 41257740 41257740 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_145174.1 -1 provisional p.G87S 0.000 206 0% 237 33.3% 0 - benign(0.008) tolerated(0.22) neutral(0.042) superfamily_DnaJ_N CYP2D7P1 1564 genome.wustl.edu 37 22 42537915 42537915 + RNA SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NR_002570.2 -1 validated NULL 1.000 36 0% 20 45% 4 75% probably_damaging(0.98) deleterious(0.04) deleterious(0.773) - TLR7 51284 genome.wustl.edu 37 X 12903909 12903909 + Silent SNP C C A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_016562.3 +1 reviewed p.I94 0.167 758 0% 773 34.7% 0 - - - - superfamily_L domain-like SSX5 6758 genome.wustl.edu 37 X 48049628 48049628 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_021015.3 -1 reviewed p.G177E 0.000 394 0% 422 34.1% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL SYP 6855 genome.wustl.edu 37 X 49048050 49048050 + Silent SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e ENST00000472598 -1 known p.T152M 0.952 22 0% 17 35.3% 0 - - - - NULL HUWE1 10075 genome.wustl.edu 37 X 53569441 53569441 + Missense_Mutation SNP G G T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_031407.4 -1 reviewed p.D3813E 0.998 156 0% 144 32.6% 52 67.3% unknown(0) tolerated(0.58) - NULL PAGE2 203569 genome.wustl.edu 37 X 55117036 55117036 + Silent SNP T T A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_207339.2 +1 provisional p.A62 0.000 115 0% 171 31% 0 - - - - HMMPfam_GAGE STARD8 9754 genome.wustl.edu 37 X 67932829 67932829 + Splice_Site SNP T T G novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001142503.2 +1 reviewed e3+2 1.000 52 0% 59 35.6% 0 - - - - - CXorf65 158830 genome.wustl.edu 37 X 70324255 70324255 + Splice_Site SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001025265.2 -1 validated e5-1 0.045 68 0% 54 33.3% 0 - - - - - ARMCX2 9823 genome.wustl.edu 37 X 100912398 100912398 + Silent SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_014782.5 -1 reviewed p.A59 0.507 165 0% 194 37.1% 8 62.5% - - - NULL GPRASP1 9737 genome.wustl.edu 37 X 101910196 101910196 + Missense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001099410.1 +1 reviewed p.S452N 0.007 240 0% 226 31.4% 2 50% benign(0.187) tolerated(0.17) neutral(0.076) NULL CAPN6 827 genome.wustl.edu 37 X 110494201 110494201 + Missense_Mutation SNP T T C novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_014289.3 -1 reviewed p.M368V 0.999 1212 0% 1521 30% 55 72.7% benign(0.001) tolerated(0.3) neutral(0.029) HMMPfam_Calpain_III,HMMSmart_calpain_III,superfamily_Peptidase_C2 LONRF3 79836 genome.wustl.edu 37 X 118145842 118145842 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001031855.1 +1 reviewed p.H573Y 1.000 175 0% 163 29.4% 1 0% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_LON,HMMSmart_SM00464 STAG2 10735 genome.wustl.edu 37 X 123229236 123229236 + Silent SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001042749.1 +1 validated p.N1240 1.000 206 0% 250 29.6% 27 66.6% - - - NULL ODZ1 10178 genome.wustl.edu 37 X 123779173 123779173 + Silent SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_014253.3 -1 reviewed p.L566 1.000 501 0% 465 40.2% 0 - - - - NULL ODZ1 10178 genome.wustl.edu 37 X 123838905 123838905 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_014253.3 -1 reviewed p.A325T 1.000 613 0% 635 19.1% 0 - possibly_damaging(0.804) tolerated(0.1) deleterious(0.589) NULL DCAF12L1 139170 genome.wustl.edu 37 X 125685420 125685420 + Missense_Mutation SNP A A G novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_178470.4 -1 reviewed p.L391P 0.000 109 0% 110 31.8% 0 - benign(0) tolerated(0.21) neutral(0.044) NULL SASH3 54440 genome.wustl.edu 37 X 128927024 128927024 + Silent SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_018990.3 +1 reviewed p.L287 0.995 98 0% 85 31.8% 15 0% - - - HMMSmart_SAM,superfamily_SAM_homology,HMMPfam_SAM_2 FAM122B 159090 genome.wustl.edu 37 X 133923150 133923150 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_145284.5 -1 validated p.Q81* 1.000 140 0% 178 34.8% 21 0% - - - NULL RBMX 27316 genome.wustl.edu 37 X 135961586 135961588 + In_Frame_Del DEL TGT TGT - novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 TGT TGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_002139.3 -1 reviewed p.MVEA1in_frame_delWLK 1.000 - - - - - - - - - NULL ATP11C 286410 genome.wustl.edu 37 X 138882264 138882264 + Missense_Mutation SNP A A G novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_173694.4 -1 validated p.V225A 1.000 302 0% 281 33.8% 0 - possibly_damaging(0.58) tolerated(0.54) neutral(0.207) superfamily_Calcium ATPase transduction domain A PNMA5 114824 genome.wustl.edu 37 X 152159783 152159783 + Silent SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001103150.1 -1 validated p.V120 0.134 228 0% 172 30.2% 0 - - - - NULL PNMA5 114824 genome.wustl.edu 37 X 152160101 152160101 + Silent SNP G G A novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_001103150.1 -1 validated p.D14 0.154 258 0% 168 35.1% 0 - - - - NULL IDH3G 3421 genome.wustl.edu 37 X 153053545 153053545 + Missense_Mutation SNP C C T novel TCGA-B5-A0JZ-01A-11W-A062-09 TCGA-B5-A0JZ-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4ee60d98-1cb1-497b-8552-96fd18630057 75d2462e-1dda-4da1-9527-a938d336605e NM_004135.2 -1 reviewed p.R131Q 0.995 111 0% 87 39.1% 97 0% possibly_damaging(0.805) tolerated(0.07) deleterious(0.622) HMMPfam_Iso_dh,superfamily_SSF53659