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 RPL22 6146 ucsc.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T - - novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_000983.3 -1 reviewed p.K15fs 1 - - - - - - - - - HMMPfam_Ribosomal_L22e SLC2A7 155184 genome.wustl.edu 37 1 9064853 9064853 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_207420.2 -1 provisional p.W426* 1.000 87 0% 76 36.8% - - - - - HMMPfam_Sugar_tr,superfamily_MFS_gen_substrate_transporter TMEM51 55092 genome.wustl.edu 37 1 15541757 15541757 + Silent SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001136216.1 +1 validated p.L58 0.801 62 0% 111 26.1% - - - - - NULL PLA2G2D 26279 genome.wustl.edu 37 1 20440659 20440659 + Missense_Mutation SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_012400.2 -1 provisional p.R129Q 0.000 37 0% 33 21.2% - - benign(0.028) deleterious(0.04) neutral(0.350) HMMPfam_Phospholip_A2_1,HMMSmart_PA2c,superfamily_PhospholipaseA2 LDLRAD2 401944 genome.wustl.edu 37 1 22140931 22140931 + Silent SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001013693.2 +1 validated p.D42 1.000 13 0% 14 28.6% - - - - - superfamily_CUB KHDRBS1 10657 genome.wustl.edu 37 1 32503460 32503460 + Silent SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_006559.1 +1 provisional p.R310 0.994 128 0% 148 23.6% - - - - - NULL ADC 113451 genome.wustl.edu 37 1 33557704 33557704 + Nonsense_Mutation SNP C C A rs192729842 by1000genomes TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_052998.2 +1 validated p.C111* 0.462 182 0% 120 26.7% - - - - - HMMPfam_Orn_Arg_deC_N,superfamily_PLP-binding barrel IPO13 9670 genome.wustl.edu 37 1 44415659 44415659 + Missense_Mutation SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_014652.3 +1 reviewed p.R219C 1.000 18 0% 25 40% - - possibly_damaging(0.862) deleterious(0.01) deleterious(0.739) HMMPfam_Xpo1,superfamily_ARM-type_fold KIF2C 11004 genome.wustl.edu 37 1 45227626 45227626 + Silent SNP T T C novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 ENST00000423289 +1 known p.I52T 0.997 93 0% 122 13.9% - - - - - HMMPfam_Kinesin,superfamily_P-loop containing nucleoside triphosphate hydrolases PTCH2 8643 genome.wustl.edu 37 1 45294011 45294011 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_003738.4 -1 reviewed p.R556W 1.000 31 0% 27 22.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Patched TOE1 114034 genome.wustl.edu 37 1 45808640 45808640 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_025077.3 +1 validated p.R293H 0.000 117 0% 131 32.8% - - benign(0.008) tolerated(0.12) neutral(0.261) HMMPfam_CAF1 LRRC41 10489 genome.wustl.edu 37 1 46751559 46751559 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_006369.4 -1 validated p.R324C 1.000 96 0% 121 23.1% - - probably_damaging(0.988) deleterious(0) deleterious(0.882) NULL NRD1 4898 genome.wustl.edu 37 1 52254944 52254944 + Missense_Mutation SNP T T C novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 ENST00000440943 -1 known p.T527A 0.992 333 0% 285 21.1% - - benign(0.001) tolerated(0.52) neutral(0.009) NULL CYB5RL 606495 genome.wustl.edu 37 1 54656521 54656521 + Missense_Mutation SNP T T C novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001031672.2 -1 provisional p.I83V 0.985 30 0% 22 27.3% - - benign(0) tolerated(0.88) - HMMPfam_FAD_binding_6,superfamily_Riboflavin synthase domain-like LRRC8D 55144 genome.wustl.edu 37 1 90400109 90400109 + Silent SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001134479.1 +1 validated p.V494 1.000 119 0% 95 21.1% - - - - - superfamily_SSF52058 ABCA4 24 genome.wustl.edu 37 1 94488947 94488947 + Silent SNP T T C novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_000350.2 -1 reviewed p.E1554 1.000 62 0% 60 11.7% - - - - - NULL AMY2A 279 genome.wustl.edu 37 1 104160191 104160191 + Silent SNP T T C novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 ENST00000423678 +1 known p.*42R 1.000 403 0% 414 22.7% - - - - - HMMPfam_Alpha-amylase,HMMSmart_SM00642,superfamily_(Trans)glycosidases TRIM33 51592 genome.wustl.edu 37 1 114970500 114970500 + Missense_Mutation SNP C C A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_015906.3 -1 reviewed p.R391I 1.000 109 0% 128 24.2% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMSmart_SM00502 CSDE1 7812 genome.wustl.edu 37 1 115267885 115267885 + Missense_Mutation SNP T T G novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001130523.1 -1 validated p.K585N 1.000 459 0% 504 24.2% - - probably_damaging(0.999) tolerated(0.24) deleterious(0.528) HMMPfam_CSD,HMMSmart_SM00357,superfamily_Nucleic acid-binding proteins HAO2 51179 genome.wustl.edu 37 1 119927403 119927403 + Silent SNP C C A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001005783.1 +1 reviewed p.A96 0.435 156 0% 164 23.2% - - - - - HMMPfam_FMN_dh,superfamily_FMN-linked oxidoreductases HIST2H2BF 440689 genome.wustl.edu 37 1 149783765 149783765 + Silent SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 ENST00000427880 -1 known p.Y38 0.997 296 0% 288 25.3% - - - - - HMMSmart_H2B,HMMPfam_Histone,superfamily_Histone-fold ARNT 405 genome.wustl.edu 37 1 150786565 150786565 + Nonsense_Mutation SNP C C A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001668.2 -1 reviewed p.G701* 0.967 183 0% 160 19.4% - - - - - superfamily_Positive stranded ssRNA viruses CGN 57530 genome.wustl.edu 37 1 151507517 151507517 + Splice_Site SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_020770.2 +1 validated e15-1 1.000 72 0% 53 24.5% - - - - - - FLG 2312 genome.wustl.edu 37 1 152285586 152285586 + Silent SNP G G T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_002016.1 -1 reviewed p.S592 0.001 393 0% 282 24.8% - - - - - HMMPfam_Filaggrin GBA 2629 genome.wustl.edu 37 1 155207998 155207998 + Missense_Mutation SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_000157.3 -1 reviewed p.V230M 0.998 46 0% 54 27.8% - - benign(0.007) tolerated(0.98) - HMMPfam_Glyco_hydro_30,superfamily_(Trans)glycosidases ASH1L 55870 genome.wustl.edu 37 1 155317683 155317683 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_018489.2 -1 reviewed p.R2523C 1.000 252 0% 306 24.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain KIRREL 55243 genome.wustl.edu 37 1 158063222 158063222 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_018240.5 +1 validated p.R522Q 1.000 101 0% 85 18.8% - - probably_damaging(0.993) tolerated(0.11) deleterious(0.722) NULL PYHIN1 149628 genome.wustl.edu 37 1 158911853 158911853 + Silent SNP A A G novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_152501.3 +1 validated p.A222 0.002 102 0% 126 24.6% - - - - - HMMPfam_HIN ADAMTS4 9507 genome.wustl.edu 37 1 161167873 161167873 + Missense_Mutation SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_005099.4 -1 reviewed p.R182H 1.000 69 0% 97 20.6% - - probably_damaging(0.999) tolerated(0.09) deleterious(0.787) HMMPfam_Pep_M12B_propep LMX1A 4009 genome.wustl.edu 37 1 165182886 165182886 + Missense_Mutation SNP A A G novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_177398.3 -1 validated p.C221R 1.000 187 0% 136 25% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like DUSP27 92235 genome.wustl.edu 37 1 167096896 167096896 + Missense_Mutation SNP T T C novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001080426.1 +1 provisional p.M843T 1.000 217 0% 190 22.6% - - possibly_damaging(0.923) deleterious(0) deleterious(0.817) NULL CAMSAP2 23271 genome.wustl.edu 37 1 200776506 200776506 + Silent SNP T T C novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_203459.1 +1 validated p.S134 0.997 242 0% 266 21.4% - - - - - NULL SYT2 127833 genome.wustl.edu 37 1 202574843 202574843 + Missense_Mutation SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001136504.1 -1 validated p.A20T 0.601 74 0% 60 30% - - unknown(0) tolerated(0.44) - NULL PM20D1 148811 genome.wustl.edu 37 1 205811843 205811843 + Silent SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_152491.4 -1 validated p.S288 0.000 144 0% 163 26.4% - - - - - HMMPfam_Peptidase_M20,HMMPfam_M20_dimer,superfamily_Bacterial exopeptidase dimerisation domain,superfamily_Zn-dependent exopeptidases FAM71A 149647 genome.wustl.edu 37 1 212799052 212799052 + Missense_Mutation SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_153606.3 +1 validated p.A278V 0.000 101 0% 72 22.2% - - benign(0.007) tolerated(0.28) neutral(0.032) NULL ADSS 159 genome.wustl.edu 37 1 244579341 244579341 + Silent SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001126.2 -1 reviewed p.T370 0.860 129 0% 103 27.2% - - - - - HMMPfam_Adenylsucc_synt,HMMSmart_SM00788,superfamily_P-loop containing nucleoside triphosphate hydrolases LTBP1 4052 genome.wustl.edu 37 2 33614375 33614375 + Splice_Site SNP T T C novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_206943.2 +1 reviewed e32+2 1.000 192 0% 201 20.4% - - - - - - DHX57 90957 genome.wustl.edu 37 2 39090627 39090627 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_198963.1 -1 provisional p.R87C 0.460 308 0% 433 26.6% - - probably_damaging(0.992) deleterious(0.01) deleterious(0.853) NULL SPTBN1 6711 genome.wustl.edu 37 2 54895587 54895587 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_003128.2 +1 reviewed p.A2326T 1.000 98 0% 82 23.2% - - benign(0.004) deleterious(0.01) neutral(0.406) NULL CCDC85A 114800 genome.wustl.edu 37 2 56602995 56602995 + Silent SNP A A G novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001080433.1 +1 provisional p.S499 1.000 132 0% 94 26.6% - - - - - NULL GMCL1 64395 genome.wustl.edu 37 2 70070283 70070283 + Silent SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_178439.3 +1 provisional p.D194 1.000 103 0% 137 24.8% - - - - - HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB DAPL1 92196 genome.wustl.edu 37 2 159718997 159718997 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 ENST00000343761 +1 known p.R101H 0.014 108 0% 89 33.7% - - possibly_damaging(0.463) tolerated(0.69) neutral(0.154) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like SCN1A 6323 genome.wustl.edu 37 2 166904218 166904218 + Silent SNP T T C novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_006920.4 -1 reviewed p.T363 1.000 119 0% 173 27.7% - - - - - HMMPfam_Ion_trans,superfamily_SSF81324 RAPGEF4 11069 genome.wustl.edu 37 2 173881932 173881932 + Missense_Mutation SNP G G T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_007023.3 +1 validated p.K643N 1.000 132 0% 154 19.5% - - benign(0.013) tolerated(0.13) neutral(0.253) superfamily_Ras GEF NFE2L2 4780 genome.wustl.edu 37 2 178098969 178098969 + Missense_Mutation SNP G G T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_006164.3 -1 validated p.Q26K 1.000 85 0% 85 22.4% - - unknown(0) deleterious(0) - NULL COL5A2 1290 genome.wustl.edu 37 2 189944748 189944748 + Missense_Mutation SNP C C A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_000393.3 -1 reviewed p.G306C 1.000 102 0% 118 28% - - unknown(0) - - HMMPfam_Collagen ANKRD44 91526 genome.wustl.edu 37 2 197943382 197943383 + Frame_Shift_Ins INS - - TG novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 ENST00000409153 -1 known p.T566fs 0.000:0.001 - - - - - - - - - superfamily_ANK PIKFYVE 200576 genome.wustl.edu 37 2 209167079 209167079 + Splice_Site SNP T T C novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_015040.3 +1 reviewed e9+2 1.000 112 0% 140 26.4% - - - - - - ASIC4 55515 genome.wustl.edu 37 2 220397179 220397179 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_018674.4 +1 reviewed p.C460Y 1.000 26 0% 51 39.2% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_ASC,PatternScan_ASC DNER 92737 genome.wustl.edu 37 2 230411754 230411754 + Missense_Mutation SNP A A G novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_139072.3 -1 validated p.V301A 1.000 180 0% 202 25.2% - - possibly_damaging(0.6) deleterious(0.01) deleterious(0.613) NULL ALPP 250 genome.wustl.edu 37 2 233243529 233243531 + In_Frame_Del DEL TGC TGC - novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 TGC TGC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001632.3 +1 reviewed p.L10in_frame_del 0.645:0.641:0.627 - - - - - - - - - NULL USP40 55230 genome.wustl.edu 37 2 234394542 234394542 + Silent SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 ENST00000454354 -1 known p.T60M 0.122 11 0% 14 28.6% - - - - - NULL CHL1 10752 genome.wustl.edu 37 3 405048 405048 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_006614.2 +1 reviewed p.A523T 0.994 193 0% 239 23.4% - - benign(0.145) tolerated(0.24) neutral(0.050) HMMSmart_SM00409,superfamily_Immunoglobulin SLC4A7 9497 genome.wustl.edu 37 3 27475478 27475478 + Missense_Mutation SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_003615.3 -1 validated p.R227Q 1.000 165 0% 211 21.3% - - possibly_damaging(0.613) tolerated(0.39) neutral(0.228) HMMPfam_Band_3_cyto,superfamily_Phoshotransferase/anion transport protein CTNNB1 1499 genome.wustl.edu 37 3 41266101 41266101 + Missense_Mutation SNP C C T rs121913400 byCluster TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001098209.1 +1 reviewed p.S33F 1.000 55 0% 92 32.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL MST1R 4486 genome.wustl.edu 37 3 49935008 49935008 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_002447.2 -1 validated p.P664L 0.000 42 0% 33 27.3% - - benign(0) tolerated(0.24) neutral(0.037) HMMPfam_TIG,HMMSmart_SM00429 PDHB 5162 genome.wustl.edu 37 3 58414340 58414340 + Missense_Mutation SNP A A G novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_000925.3 -1 reviewed p.V265A 1.000 113 0% 89 27% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Transketolase_C,superfamily_TK C-terminal domain-like ATXN7 6314 genome.wustl.edu 37 3 63981736 63981736 + Silent SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001128149.2 +1 reviewed p.Y746 0.981 166 0% 147 27.2% - - - - - NULL CNTN3 5067 genome.wustl.edu 37 3 74316438 74316438 + Silent SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_020872.1 -1 validated p.E932 1.000 130 0% 109 15.6% - - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III CLDND1 56650 genome.wustl.edu 37 3 98237835 98237835 + Missense_Mutation SNP T T C novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 ENST00000503799 -1 known p.I106V 1.000 96 0% 126 30.2% - - unknown(0) deleterious(0) - NULL MYH15 22989 genome.wustl.edu 37 3 108224618 108224618 + Silent SNP T T C novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_014981.1 -1 validated p.K69 0.931 253 0% 357 25.5% - - - - - HMMPfam_Myosin_N BOC 91653 genome.wustl.edu 37 3 112989783 112989783 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_033254.2 +1 validated p.R220H 1.000 113 0% 67 22.4% - - probably_damaging(1) tolerated(0.54) deleterious(0.507) HMMSmart_SM00409,HMMPfam_V-set SPICE1 152185 genome.wustl.edu 37 3 113222068 113222068 + Missense_Mutation SNP C C T rs141190252 by1000genomes TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_144718.3 -1 validated p.V36M 1.000 103 0% 149 24.8% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL KIAA1407 57577 genome.wustl.edu 37 3 113697767 113697767 + Missense_Mutation SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_020817.1 -1 predicted p.A800T 0.008 301 0% 445 26.7% - - probably_damaging(0.999) tolerated(0.1) deleterious(0.777) NULL ADCY5 111 genome.wustl.edu 37 3 123047605 123047605 + Missense_Mutation SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_183357.1 -1 validated p.G564E 1.000 76 0% 41 36.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase EEFSEC 60678 genome.wustl.edu 37 3 128060646 128060646 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_021937.3 +1 validated p.G453R 1.000 44 0% 43 30.2% - - probably_damaging(0.963) tolerated(0.39) neutral(0.422) NULL ACAD11 84129 genome.wustl.edu 37 3 132280029 132280029 + Silent SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_032169.4 -1 validated p.R678 0.998 113 0% 130 28.5% - - - - - HMMPfam_Acyl-CoA_dh_1,superfamily_Acyl-CoA dehydrogenase C-terminal domain-like LRRC33 375387 genome.wustl.edu 37 3 196386688 196386688 + Silent SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_198565.1 +1 provisional p.H58 0.000 23 0% 20 30% - - - - - superfamily_SSF52058 HTT 3064 genome.wustl.edu 37 4 3234946 3234946 + Silent SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_002111.6 +1 reviewed p.S2774 1.000 42 0% 31 32.3% - - - - - NULL TBC1D19 55296 genome.wustl.edu 37 4 26638864 26638864 + Nonsense_Mutation SNP T T A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_018317.2 +1 validated p.L109* 1.000 196 0% 164 19.5% - - - - - NULL KLF3 51274 genome.wustl.edu 37 4 38696440 38696440 + Missense_Mutation SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_016531.5 +1 validated p.R257W 1.000 188 0% 172 23.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_C2H2 and C2HC zinc fingers SHISA3 152573 genome.wustl.edu 37 4 42403091 42403091 + Missense_Mutation SNP T T C novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001080505.1 +1 provisional p.S114P 1.000 219 0% 227 30.4% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL LRRC66 339977 genome.wustl.edu 37 4 52861565 52861565 + Silent SNP A A G novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001024611.1 -1 provisional p.T541 0.000 283 0% 286 23.4% - - - - - NULL PPEF2 5470 genome.wustl.edu 37 4 76813045 76813045 + Missense_Mutation SNP A A G novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_006239.2 -1 reviewed p.F48L 1.000 127 0% 131 23.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SHROOM3 57619 genome.wustl.edu 37 4 77661573 77661573 + Silent SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_020859.3 +1 validated p.S749 0.000 34 0% 16 25% - - - - - NULL MAPK10 5602 genome.wustl.edu 37 4 86938453 86938453 + Silent SNP G G T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_138982.2 -1 reviewed p.T441 0.653 124 0% 150 29.3% - - - - - NULL SLC39A8 64116 genome.wustl.edu 37 4 103184333 103184335 + In_Frame_Del DEL ATC ATC - novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 ATC ATC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001135146.1 -1 reviewed p.D417in_frame_del 0.699:0.971:0.977 - - - - - - - - - HMMPfam_Zip FAT4 79633 genome.wustl.edu 37 4 126372809 126372809 + Nonsense_Mutation SNP T T A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_024582.4 +1 validated p.Y3546* 0.209 269 0% 273 23.8% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like ZNF827 152485 genome.wustl.edu 37 4 146824171 146824171 + Silent SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_178835.3 -1 validated p.T80 0.105 138 0% 135 30.4% - - - - - NULL HMGB2 3148 genome.wustl.edu 37 4 174253279 174253279 + Silent SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001130688.1 -1 reviewed p.E194 0.850 151 0% 142 23.9% - - - - - NULL FAT1 2195 genome.wustl.edu 37 4 187524774 187524774 + Nonsense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_005245.3 -1 reviewed p.Q3636* 0.081 55 0% 58 31% - - - - - HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases CCT5 22948 genome.wustl.edu 37 5 10262702 10262702 + Missense_Mutation SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_012073.3 +1 reviewed p.A430V 1.000 181 0% 142 25.4% - - possibly_damaging(0.714) deleterious(0.02) deleterious(0.641) HMMPfam_Cpn60_TCP1,superfamily_GroEL equatorial domain-like CTNND2 1501 genome.wustl.edu 37 5 11018172 11018172 + Splice_Site SNP T T C novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001332.2 -1 validated e18-2 1.000 103 0% 86 24.4% - - - - - - WDR70 55100 genome.wustl.edu 37 5 37396643 37396645 + In_Frame_Del DEL GAA GAA - novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_018034.2 +1 provisional p.E158in_frame_del 0.995:0.988:0.979 - - - - - - - - - superfamily_WD40_like LIFR 3977 genome.wustl.edu 37 5 38510581 38510581 + Missense_Mutation SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001127671.1 -1 reviewed p.V326I 0.974 138 0% 182 23.6% - - probably_damaging(0.999) tolerated(0.08) deleterious(0.790) superfamily_Fibronectin type III PTGER4 5734 genome.wustl.edu 37 5 40681465 40681465 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_000958.2 +1 reviewed p.A124T 1.000 117 0% 122 11.5% - - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_7tm_1,superfamily_SSF81321 PPAP2A 8611 genome.wustl.edu 37 5 54737683 54737683 + Missense_Mutation SNP A A G novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_176895.1 -1 reviewed p.V183A 1.000 341 0% 334 24.6% - - benign(0.103) deleterious(0.01) neutral(0.414) HMMPfam_PAP2,HMMSmart_SM00014,superfamily_Acid phosphatase/Vanadium-dependent haloperoxidase IL6ST 3572 genome.wustl.edu 37 5 55247880 55247880 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_002184.2 -1 reviewed p.R526W 1.000 127 0% 129 27.9% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PIK3R1 5295 genome.wustl.edu 37 5 67589591 67589591 + Missense_Mutation SNP T T A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_181523.1 +1 reviewed p.Y452N 1.000 98 0% 104 33.7% - - probably_damaging(0.996) deleterious(0.04) deleterious(0.810) NULL PIK3R1 5295 genome.wustl.edu 37 5 67589619 67589620 + In_Frame_Ins INS - - AGA novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_181523.1 +1 reviewed p.463in_frame_insE 0.483:0.234 - - - - - - - - - NULL PIK3R1 5295 genome.wustl.edu 37 5 67590446 67590446 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_181523.1 +1 reviewed p.R503Q 1.000 67 0% 95 31.6% - - possibly_damaging(0.741) tolerated(0.2) neutral(0.321) NULL MARVELD2 153562 genome.wustl.edu 37 5 68715384 68715384 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001038603.2 +1 validated p.G58S 1.000 120 0% 149 26.2% - - unknown(0) deleterious(0) - NULL JMY 133746 genome.wustl.edu 37 5 78610354 78610354 + Missense_Mutation SNP T T C novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_152405.4 +1 validated p.L780P 0.992 274 0% 279 20.8% - - benign(0.056) deleterious(0) neutral(0.448) NULL XRCC4 7518 genome.wustl.edu 37 5 82400876 82400876 + Silent SNP A A G novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_022406.2 +1 reviewed p.T46 1.000 129 0% 157 25.5% - - - - - superfamily_XRCC4 N-terminal domain,HMMPfam_XRCC4 CAMK4 814 genome.wustl.edu 37 5 110819922 110819922 + Silent SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001744.3 +1 reviewed p.L394 0.538 106 0% 122 25.4% - - - - - NULL DMXL1 1657 genome.wustl.edu 37 5 118576134 118576134 + Missense_Mutation SNP C C G novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_005509.4 +1 validated p.T2870S 1.000 87 0% 136 19.1% - - probably_damaging(1) tolerated(0.09) deleterious(0.796) superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1 IK 3550 genome.wustl.edu 37 5 140038908 140038908 + Silent SNP C C T rs190024283 by1000genomes TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_006083.3 +1 reviewed p.D395 0.565 79 0% 152 21.1% - - - - - NULL PCDHA7 56141 genome.wustl.edu 37 5 140214328 140214328 + Silent SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_018910.2 +1 reviewed p.D120 0.998 129 0% 206 15.5% - - - - - HMMSmart_SM00112,superfamily_Cadherin-like PCDHB12 56124 genome.wustl.edu 37 5 140589966 140589966 + Missense_Mutation SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_018932.3 +1 reviewed p.P496L 0.000 142 0% 123 17.9% - - benign(0) tolerated(0.24) neutral(0.037) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHGB5 56101 genome.wustl.edu 37 5 140777975 140777975 + Missense_Mutation SNP A A G novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_018925.2 +1 reviewed p.E94G 0.999 105 0% 126 12.7% - - - - - HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDHGA11 56105 genome.wustl.edu 37 5 140801469 140801469 + Silent SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_018914.2 +1 reviewed p.G225 0.005 114 0% 93 26.9% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FBXO38 81545 genome.wustl.edu 37 5 147807329 147807329 + Silent SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_205836.1 +1 validated p.G824 1.000 84 0% 71 26.8% - - - - - NULL SLC36A1 206358 genome.wustl.edu 37 5 150844716 150844716 + Silent SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_078483.2 +1 reviewed p.H135 0.016 110 0% 119 26.1% - - - - - HMMPfam_Aa_trans CYFIP2 26999 genome.wustl.edu 37 5 156766176 156766176 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001037332.2 +1 validated p.A833T 1.000 65 0% 45 22.2% - - possibly_damaging(0.945) deleterious(0.01) deleterious(0.795) HMMPfam_FragX_IP GABRP 2568 genome.wustl.edu 37 5 170222322 170222322 + Silent SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_014211.2 +1 reviewed p.V117 1.000 279 0% 282 27.7% - - - - - HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like C6orf201 404220 genome.wustl.edu 37 6 4099331 4099331 + Silent SNP G G A rs147712155 by1000genomes TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001085401.1 +1 validated p.P61 0.001 179 0% 196 21.9% - - - - - NULL GCM2 9247 genome.wustl.edu 37 6 10874580 10874580 + Missense_Mutation SNP G G T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_004752.3 -1 reviewed p.S390Y 1.000 108 0% 119 26.1% - - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL SCAND3 114821 genome.wustl.edu 37 6 28543628 28543628 + Missense_Mutation SNP T T A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_052923.1 -1 provisional p.E285V 1.000 193 0% 233 25.8% - - probably_damaging(0.98) tolerated(0.17) deleterious(0.483) NULL GTF2H4 2968 genome.wustl.edu 37 6 30881097 30881097 + Silent SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001517.4 +1 validated p.L383 0.999 143 0% 141 26.2% - - - - - NULL TNXB 7148 genome.wustl.edu 37 6 32020478 32020478 + Silent SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_019105.6 -1 reviewed p.R3026 0.021 67 0% 75 22.7% - - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III ENSG00000248398 0 genome.wustl.edu 37 6 33650290 33650290 + RNA SNP A A T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 ENST00000511225 -1 known NULL 0.000 35 0% 26 19.2% - - - - - - KCNK17 89822 genome.wustl.edu 37 6 39267316 39267316 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_031460.3 -1 reviewed p.R296W 0.000 161 0% 156 24.4% - - possibly_damaging(0.922) deleterious(0.01) deleterious(0.777) NULL MOCS1 4337 genome.wustl.edu 37 6 39876849 39876849 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001075098.3 -1 reviewed p.R378W 1.000 54 0% 71 28.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF102114 ZNF318 24149 genome.wustl.edu 37 6 43325106 43325106 + Nonsense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_014345.2 -1 validated p.R316* 1.000 199 0% 178 20.2% - - - - - NULL ABCC10 89845 genome.wustl.edu 37 6 43402404 43402404 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_033450.2 +1 reviewed p.G433R 0.967 160 0% 110 23.6% - - benign(0.005) tolerated(0.29) neutral(0.029) HMMPfam_ABC_membrane,superfamily_ABC_TM_1 GSTA2 2939 genome.wustl.edu 37 6 52617767 52617767 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_000846.4 -1 reviewed p.A100V 0.015 440 0% 519 27% - - benign(0.003) tolerated(0.29) neutral(0.029) HMMPfam_GST_C,superfamily_GST_C_like LAMA4 3910 genome.wustl.edu 37 6 112435280 112435280 + Silent SNP T T C novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001105206.1 -1 reviewed p.P1775 1.000 238 0% 323 23.2% - - - - - HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 TRMT11 60487 genome.wustl.edu 37 6 126332561 126332561 + Missense_Mutation SNP A A T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001031712.2 +1 validated p.D308V 1.000 116 0% 95 21.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UPF0020,PatternScan_N6_MTASE,superfamily_S-adenosyl-L-methionine-dependent methyltransferases ABCB5 340273 genome.wustl.edu 37 7 20691218 20691218 + Missense_Mutation SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_178559.5 +1 validated p.A58V 1.000 233 0.4% 241 23.7% - - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases GLI3 2737 genome.wustl.edu 37 7 42004666 42004666 + Silent SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_000168.5 -1 reviewed p.P1335 0.992 48 0% 36 41.7% - - - - - NULL HECW1 23072 genome.wustl.edu 37 7 43484937 43484937 + Silent SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_015052.3 +1 validated p.V722 0.992 74 0% 34 26.5% - - - - - NULL URGCP 55665 genome.wustl.edu 37 7 43917299 43917299 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001077663.1 -1 validated p.T588M 0.977 60 0% 48 27.1% - - benign(0.004) tolerated(0.13) neutral(0.253) NULL ABCA13 154664 genome.wustl.edu 37 7 48450181 48450181 + Silent SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 ENST00000453246 +1 known p.R311C 0.047 268 0% 206 26.2% - - - - - HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases PCLO 27445 genome.wustl.edu 37 7 82584314 82584314 + Silent SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_033026.5 -1 validated p.Q1985 0.943 595 0.2% 735 18.9% - - - - - NULL DMTF1 9988 genome.wustl.edu 37 7 86823243 86823243 + Missense_Mutation SNP A A G novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001142327.1 +1 reviewed p.H618R 0.984 151 0% 163 22.1% - - benign(0) tolerated(0.48) neutral(0.011) NULL ZNF804B 219578 genome.wustl.edu 37 7 88966032 88966032 + Missense_Mutation SNP A A G novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_181646.2 +1 provisional p.I1246V 0.039 315 0% 314 21% - - benign(0.006) deleterious(0.02) neutral(0.383) NULL LMTK2 22853 genome.wustl.edu 37 7 97823413 97823413 + Silent SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_014916.3 +1 reviewed p.G1212 0.000 27 0% 30 33.3% - - - - - NULL TRRAP 8295 genome.wustl.edu 37 7 98513428 98513428 + Missense_Mutation SNP G G T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_003496.2 +1 validated p.R761L 1.000 102 0% 120 19.2% - - probably_damaging(1) tolerated(0.05) deleterious(0.845) superfamily_ARM repeat ZSCAN21 7589 genome.wustl.edu 37 7 99661471 99661471 + Missense_Mutation SNP A A T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_145914.2 +1 validated p.E218V 0.080 211 0% 209 21.1% - - benign(0.141) tolerated(0.24) neutral(0.050) NULL ZNF3 7551 genome.wustl.edu 37 7 99668869 99668869 + Missense_Mutation SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_032924.3 -1 validated p.R413H 0.965 115 0.9% 123 26% - - probably_damaging(0.993) deleterious(0.05) deleterious(0.795) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 RELN 5649 genome.wustl.edu 37 7 103244841 103244841 + Missense_Mutation SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_005045.3 -1 reviewed p.C1033Y 1.000 117 0% 121 14.9% - - probably_damaging(0.959) deleterious(0) deleterious(0.847) HMMPfam_EGF_2 IRF5 3663 genome.wustl.edu 37 7 128586057 128586057 + Silent SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001098629.1 +1 reviewed p.Y118 1.000 55 0% 20 20% - - - - - HMMPfam_IRF,HMMSmart_IRF,superfamily_SSF46785 OR2F1 26211 genome.wustl.edu 37 7 143657291 143657291 + Silent SNP T T C novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_012369.2 +1 provisional p.S76 0.001 593 0% 530 23% - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR2A5 393046 genome.wustl.edu 37 7 143747686 143747686 + Silent SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_012365.1 +1 provisional p.H64 0.955 344 0% 377 20.7% - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ZNF786 136051 genome.wustl.edu 37 7 148768291 148768291 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_152411.3 -1 validated p.R525C 0.001 21 0% 16 31.2% - - probably_damaging(0.999) tolerated(0.2) deleterious(0.539) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SGK223 157285 genome.wustl.edu 37 8 8185588 8185588 + Missense_Mutation SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001080826.1 -1 validated p.G902S 0.000 108 0% 59 18.6% - - probably_damaging(0.975) tolerated(0.29) neutral(0.446) NULL RP1L1 94137 genome.wustl.edu 37 8 10468375 10468375 + Missense_Mutation SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_178857.5 -1 validated p.R1078Q 0.001 17 0% 18 38.9% - - probably_damaging(0.989) deleterious(0.01) deleterious(0.845) NULL SLC7A2 6542 genome.wustl.edu 37 8 17401002 17401002 + Missense_Mutation SNP G G T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_003046.5 +1 validated p.V92F 1.000 60 0% 85 27.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL BMP1 649 genome.wustl.edu 37 8 22037927 22037927 + Silent SNP T T C novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_006129.4 +1 reviewed p.P336 0.004 278 0.4% 231 15.2% - - - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain KIAA1967 57805 genome.wustl.edu 37 8 22473255 22473255 + Missense_Mutation SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_021174.4 +1 validated p.R480W 0.986 41 0% 61 21.3% - - benign(0.346) tolerated(0.18) neutral(0.166) NULL ZFHX4 79776 genome.wustl.edu 37 8 77768157 77768157 + Silent SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_024721.4 +1 validated p.G2955 0.965 122 0% 145 19.3% - - - - - NULL ZFHX4 79776 genome.wustl.edu 37 8 77776582 77776582 + Silent SNP T T C novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_024721.4 +1 validated p.S3499 1.000 195 0% 230 18.7% - - - - - NULL MMP16 4325 genome.wustl.edu 37 8 89068387 89068387 + Missense_Mutation SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_005941.4 -1 reviewed p.V448I 1.000 158 0% 195 19.5% - - possibly_damaging(0.762) tolerated(0.08) deleterious(0.583) superfamily_Hemopexin-like domain,HMMPfam_Hemopexin,HMMSmart_SM00120 OSR2 116039 genome.wustl.edu 37 8 99961711 99961711 + Silent SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001142462.1 +1 validated p.C177 1.000 262 0.4% 244 18.4% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CSMD3 114788 genome.wustl.edu 37 8 113504823 113504823 + Missense_Mutation SNP A A G novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_198123.1 -1 validated p.Y1725H 1.000 213 0% 260 18.8% - - probably_damaging(0.962) tolerated(0.06) deleterious(0.728) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain ASAP1 50807 genome.wustl.edu 37 8 131149208 131149208 + Missense_Mutation SNP T T C novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_018482.2 -1 validated p.D386G 1.000 143 0% 294 16% - - probably_damaging(0.977) deleterious(0) deleterious(0.863) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 LRRC6 23639 genome.wustl.edu 37 8 133637545 133637545 + Missense_Mutation SNP T T C novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_012472.3 -1 provisional p.K270R 1.000 281 0% 312 19.6% - - benign(0.122) tolerated(0.61) neutral(0.014) NULL TG 7038 genome.wustl.edu 37 8 133885382 133885382 + Missense_Mutation SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_003235.4 +1 reviewed p.A185V 0.004 57 0% 75 25.3% - - benign(0.15) deleterious(0.04) neutral(0.362) superfamily_Thyroglobulin type-1 domain TG 7038 genome.wustl.edu 37 8 133899033 133899033 + Silent SNP T T C novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_003235.4 +1 reviewed p.F472 1.000 202 0% 228 21.5% - - - - - NULL ST3GAL1 6482 genome.wustl.edu 37 8 134474160 134474160 + Silent SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_003033.3 -1 reviewed p.T269 0.889 78 0% 101 14.9% - - - - - HMMPfam_Glyco_transf_29 FAM135B 51059 genome.wustl.edu 37 8 139163912 139163912 + Missense_Mutation SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_015912.3 -1 validated p.E936K 0.833 279 0% 355 17.5% - - possibly_damaging(0.846) deleterious(0) deleterious(0.770) NULL GLI4 2738 genome.wustl.edu 37 8 144351572 144351572 + Silent SNP A A G novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_138465.3 +1 validated p.A2 0.376 62 0% 43 14% - - - - - NULL SNAPC3 6619 genome.wustl.edu 37 9 15453143 15453143 + Missense_Mutation SNP T T A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001039697.1 +1 validated p.F307Y 1.000 197 0% 197 24.4% - - benign(0.015) tolerated(1) neutral(0.001) NULL KIAA1797 54914 genome.wustl.edu 37 9 20912872 20912872 + Missense_Mutation SNP T T C novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_017794.3 +1 validated p.L909P 0.984 136 0% 142 21.8% - - benign(0.011) tolerated(0.12) neutral(0.261) superfamily_ARM-type_fold LOC730110 730110 genome.wustl.edu 37 9 35148362 35148362 + Missense_Mutation SNP T T A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 XM_002342891.1 -1 model p.T274S 0.001 117 0% 174 24.1% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SLC35D2 11046 genome.wustl.edu 37 9 99086398 99086398 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_007001.2 -1 validated p.T269M 0.994 142 0% 169 23.1% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_TPT SVEP1 79987 genome.wustl.edu 37 9 113170657 113170657 + Missense_Mutation SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_153366.3 -1 validated p.C2408Y 1.000 77 0% 98 37.8% - - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain PSMD5 5711 genome.wustl.edu 37 9 123580190 123580190 + Silent SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_005047.2 -1 reviewed p.A503 0.590 173 0% 218 19.7% - - - - - HMMPfam_Proteasom_PSMB STXBP1 6812 genome.wustl.edu 37 9 130444789 130444789 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_003165.3 +1 reviewed p.R551H 1.000 50 0% 36 22.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sec1,superfamily_Sec1/munc18-like (SM) proteins DBH 1621 genome.wustl.edu 37 9 136508677 136508677 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_000787.3 +1 reviewed p.R296H 1.000 37 0% 26 26.9% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Cu2_monooxygen,superfamily_PHM_PNGase_F PPP1R26 9858 genome.wustl.edu 37 9 138377292 138377292 + Silent SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_014811.3 +1 validated p.T312 0.001 51 0% 28 25% - - - - - NULL CREM 1390 genome.wustl.edu 37 10 35500202 35500202 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_183011.1 +1 reviewed p.R259H 1.000 74 0% 88 25% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00338,PatternScan_BZIP_BASIC,HMMPfam_bZIP_1 RET 5979 genome.wustl.edu 37 10 43597795 43597795 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_020975.4 +1 reviewed p.G115S 0.967 56 0% 58 22.4% - - benign(0.043) tolerated(0.55) neutral(0.009) NULL MARCH8 220972 genome.wustl.edu 37 10 45959741 45959741 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001002265.1 -1 validated p.P63L 1.000 106 0% 115 27.8% - - benign(0.007) tolerated(0.19) neutral(0.050) superfamily_SSF57850 PCDH15 65217 genome.wustl.edu 37 10 55566836 55566836 + Missense_Mutation SNP A A G novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001142771.1 -1 reviewed p.S1518P 1.000 109 0% 135 24.4% - - possibly_damaging(0.846) deleterious(0) deleterious(0.770) NULL PCDH15 65217 genome.wustl.edu 37 10 55973760 55973760 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001142763.1 -1 reviewed p.A350V 1.000 129 0% 133 25.6% - - probably_damaging(0.998) tolerated(0.14) deleterious(0.724) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like ARID5B 84159 genome.wustl.edu 37 10 63850751 63850761 + Frame_Shift_Del DEL CCAGAGTAGAC CCAGAGTAGAC - novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 CCAGAGTAGAC CCAGAGTAGAC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_032199.2 +1 validated p.V512fs 0.022:0.001:0.004:0.535:0.612:0.650:0.987:0.989:0.999:1.000:1.000 - - - - - - - - - NULL ZNF365 22891 genome.wustl.edu 37 10 64136198 64136198 + Silent SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_199451.2 +1 reviewed p.P82 0.996 56 0% 60 33.3% - - - - - NULL SLC25A16 8034 genome.wustl.edu 37 10 70263436 70263436 + Missense_Mutation SNP A A G novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_152707.2 -1 reviewed p.L125P 1.000 87 0% 120 28.3% - - possibly_damaging(0.673) deleterious(0.02) deleterious(0.622) superfamily_Mitoch_carrier,HMMPfam_Mito_carr NDST2 8509 genome.wustl.edu 37 10 75567737 75567737 + Missense_Mutation SNP A A G novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_003635.3 -1 reviewed p.L137S 1.000 163 0% 103 26.2% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL MAT1A 4143 genome.wustl.edu 37 10 82043688 82043688 + Silent SNP G G A rs184358377 by1000genomes TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_000429.2 -1 reviewed p.Y92 0.067 70 0% 51 23.5% - - - - - HMMPfam_S-AdoMet_synt_N,superfamily_S-AdoMet_synt PTEN 5728 genome.wustl.edu 37 10 89692905 89692905 + Missense_Mutation SNP G G A rs121913292 TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 ENST00000371953 +1 known p.R130Q 1.000 258 0% 318 24.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DSPc,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II PTEN 5728 genome.wustl.edu 37 10 89717729 89717729 + Missense_Mutation SNP G G T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 ENST00000371953 +1 known p.D252Y 1.000 340 0% 306 21.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 ANKRD22 118932 genome.wustl.edu 37 10 90591777 90591777 + Missense_Mutation SNP A A G novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_144590.2 -1 validated p.C10R 1.000 386 0% 370 15.4% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_Ankyrin repeat CNNM2 54805 genome.wustl.edu 37 10 104809596 104809596 + Missense_Mutation SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_017649.3 +1 validated p.T585I 1.000 133 0% 105 21% - - probably_damaging(0.982) deleterious(0.01) deleterious(0.832) NULL SH3PXD2A 9644 genome.wustl.edu 37 10 105363177 105363177 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_014631.2 -1 validated p.R572W 1.000 107 0% 77 23.4% - - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL RAB11FIP2 22841 genome.wustl.edu 37 10 119799986 119799986 + Silent SNP G G A rs188765663 by1000genomes TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_014904.2 -1 validated p.T148 0.997 104 0% 122 29.5% - - - - - NULL FGFR2 2263 genome.wustl.edu 37 10 123279677 123279677 + Missense_Mutation SNP G G C rs79184941 byCluster TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_022970.3 -1 reviewed p.S252W 1.000 65 0% 81 28.4% - - probably_damaging(0.963) tolerated(0.07) deleterious(0.725) NULL ZNF195 7748 genome.wustl.edu 37 11 3392255 3392255 + Missense_Mutation SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001130520.1 -1 validated p.R59Q 0.000 364 0% 321 12.5% - - probably_damaging(1) tolerated(0.34) deleterious(0.523) HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) FAM160A2 84067 genome.wustl.edu 37 11 6233053 6233053 + Missense_Mutation SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_032127.3 -1 validated p.A882T 0.998 236 0% 226 22.6% - - benign(0.004) tolerated(0.47) neutral(0.011) NULL DCHS1 8642 genome.wustl.edu 37 11 6662451 6662451 + Nonsense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_003737.2 -1 reviewed p.R132* 0.994 44 0% 39 23.1% - - - - - HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin DENND5A 23258 genome.wustl.edu 37 11 9165706 9165706 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_015213.2 -1 validated p.P1081L 0.998 101 0% 74 25.7% - - probably_damaging(0.994) tolerated(0.1) deleterious(0.738) NULL DCDC5 100506627 genome.wustl.edu 37 11 30902833 30902833 + Missense_Mutation SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 XM_002343054.1 -1 model p.R936H 0.659 115 0% 120 23.3% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_DCX,HMMSmart_SM00537,superfamily_Doublecortin (DC) ENSG00000186082 0 genome.wustl.edu 37 11 35882686 35882686 + Missense_Mutation SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 ENST00000333983 -1 known p.E123K 1.000 110 0% 116 23.3% - - - - - HMMPfam_Filament OSBP 5007 genome.wustl.edu 37 11 59344146 59344146 + Missense_Mutation SNP C C A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_002556.2 -1 reviewed p.K776N 1.000 436 0% 506 21.1% - - benign(0.051) tolerated(0.27) neutral(0.037) HMMPfam_Oxysterol_BP AHNAK 79026 genome.wustl.edu 37 11 62289296 62289296 + Missense_Mutation SNP A A G novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001620.1 -1 validated p.M4198T 1.000 645 0.2% 428 23.8% - - possibly_damaging(0.945) deleterious(0.04) deleterious(0.738) NULL AHNAK 79026 genome.wustl.edu 37 11 62301509 62301509 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001620.1 -1 validated p.T127M 0.999 39 0% 25 20% - - probably_damaging(0.969) deleterious(0.03) deleterious(0.776) NULL EML3 256364 genome.wustl.edu 37 11 62370707 62370707 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 ENST00000394776 -1 known p.W751* 0.971 38 0% 32 21.9% - - benign(0.017) tolerated(0.62) neutral(0.005) NULL FRMD8 83786 genome.wustl.edu 37 11 65168208 65168208 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_031904.3 +1 validated p.G314D 1.000 11 0% 21 33.3% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL DPP3 10072 genome.wustl.edu 37 11 66262679 66262679 + Silent SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_005700.3 +1 reviewed p.D464 1.000 52 0% 46 26.1% - - - - - HMMPfam_Peptidase_M49 IGHMBP2 3508 genome.wustl.edu 37 11 68704310 68704310 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_002180.2 +1 reviewed p.R788* 0.000 24 0% 19 31.6% - - - - - NULL GAB2 9846 genome.wustl.edu 37 11 77932791 77932791 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_080491.2 -1 reviewed p.R565C 1.000 114 0% 53 22.6% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL ODZ4 26011 genome.wustl.edu 37 11 78380542 78380542 + Missense_Mutation SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001098816.2 -1 validated p.R2283Q 1.000 194 0% 85 27.1% - - benign(0.047) deleterious(0.01) neutral(0.409) HMMPfam_RHS_repeat ANKRD42 338699 genome.wustl.edu 37 11 82959023 82959023 + Missense_Mutation SNP G G T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_182603.2 +1 validated p.D384Y 1.000 106 0% 93 23.7% - - possibly_damaging(0.92) deleterious(0.03) deleterious(0.736) NULL PICALM 8301 genome.wustl.edu 37 11 85733485 85733485 + Missense_Mutation SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_007166.2 -1 validated p.R126Q 1.000 253 0% 248 20.2% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_ENTH/VHS domain,HMMPfam_ANTH,HMMSmart_SM00273 FAT3 120114 genome.wustl.edu 37 11 92577532 92577532 + Missense_Mutation SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001008781.2 +1 validated p.H3667Y 1.000 67 0% 63 30.2% - - possibly_damaging(0.925) deleterious(0) deleterious(0.818) superfamily_Concanavalin A-like lectins/glucanases BIRC2 329 genome.wustl.edu 37 11 102221477 102221477 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001166.3 +1 reviewed p.V298M 1.000 381 0% 276 19.9% - - benign(0.023) tolerated(0.11) neutral(0.273) HMMPfam_BIR,HMMSmart_BIR,PatternScan_BIR_REPEAT_1,superfamily_SSF57924 MLL 4297 genome.wustl.edu 37 11 118371776 118371776 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_005933.2 +1 validated p.R2075H 1.000 127 0% 145 29% - - probably_damaging(0.999) - - NULL OR10G8 219869 genome.wustl.edu 37 11 123901198 123901198 + Missense_Mutation SNP G G T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001004464.1 +1 provisional p.R290M 1.000 283 0% 290 22.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Family A G protein-coupled receptor-like KIRREL3 84623 genome.wustl.edu 37 11 126314880 126314880 + Missense_Mutation SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_032531.3 -1 reviewed p.V416I 1.000 49 0% 44 22.7% - - possibly_damaging(0.751) tolerated(0.08) deleterious(0.576) HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin VPS26B 112936 genome.wustl.edu 37 11 134110010 134110010 + Missense_Mutation SNP A A G novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_052875.3 +1 validated p.E169G 1.000 205 0% 202 29.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Vps26 PTMS 5763 genome.wustl.edu 37 12 6879359 6879359 + Missense_Mutation SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_002824.4 +1 validated p.A78V 1.000 119 0% 59 22% - - unknown(0) - - HMMPfam_Prothymosin SLC38A4 55089 genome.wustl.edu 37 12 47172402 47172402 + Missense_Mutation SNP C C T rs189669525 by1000genomes TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001143824.1 -1 validated p.R292H 0.000 180 0% 129 19.4% - - benign(0) tolerated(0.12) neutral(0.261) HMMPfam_Aa_trans MLL2 8085 genome.wustl.edu 37 12 49421001 49421001 + Silent SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_003482.3 -1 validated p.P4916 0.780 63 0% 43 32.6% - - - - - NULL KCNH3 23416 genome.wustl.edu 37 12 49935492 49935492 + Silent SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_012284.1 +1 validated p.H130 1.000 124 0% 50 34% - - - - - HMMSmart_PAC,HMMPfam_PAS,superfamily_SSF55785 XPOT 11260 genome.wustl.edu 37 12 64827364 64827364 + Silent SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_007235.3 +1 reviewed p.S811 0.809 182 0% 202 21.3% - - - - - superfamily_ARM-type_fold MDM1 56890 genome.wustl.edu 37 12 68715185 68715185 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_017440.4 -1 reviewed p.A316V 1.000 111 0% 116 10.3% - - possibly_damaging(0.767) tolerated(0.07) deleterious(0.603) NULL OTOGL 283310 genome.wustl.edu 37 12 80613571 80613573 + In_Frame_Del DEL TTT TTT - novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 TTT TTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 XM_002343203.1 +1 model p.F16in_frame_del 0.783:0.235:0.100 - - - - - - - - - NULL MYBPC1 4604 genome.wustl.edu 37 12 101988851 101988851 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_002465.2 +1 validated p.M1I 1.000 71 0% 67 25.4% - - benign(0.016) deleterious(0) neutral(0.445) NULL MYBPC1 4604 genome.wustl.edu 37 12 102067349 102067349 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_002465.2 +1 validated p.V920I 1.000 243 0% 253 23.7% - - benign(0.292) tolerated(0.07) neutral(0.409) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin PWP1 11137 genome.wustl.edu 37 12 108093183 108093183 + Missense_Mutation SNP C C A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_007062.1 +1 provisional p.L260I 1.000 214 0% 220 22.7% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 OAS1 4938 genome.wustl.edu 37 12 113354429 113354429 + Missense_Mutation SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001032409.1 +1 reviewed p.T257M 0.000 264 0% 297 23.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_OAS1_C,superfamily_PAP/OAS1 substrate-binding domain BRCA2 675 genome.wustl.edu 37 13 32972645 32972645 + Missense_Mutation SNP C C A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_000059.3 +1 reviewed p.S3332Y 0.000 213 0% 131 31.3% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL PDS5B 23047 genome.wustl.edu 37 13 33268398 33268398 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_015032.3 +1 reviewed p.R503Q 1.000 217 0% 236 28% - - probably_damaging(0.986) deleterious(0) deleterious(0.879) superfamily_ARM repeat FOXO1 2308 genome.wustl.edu 37 13 41133865 41133865 + Missense_Mutation SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_002015.3 -1 reviewed p.G588D 1.000 153 0.7% 139 27.3% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL ENOX1 55068 genome.wustl.edu 37 13 43900589 43900589 + Missense_Mutation SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001127615.1 -1 validated p.R370H 1.000 124 0% 162 17.9% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL WDFY2 115825 genome.wustl.edu 37 13 52325482 52325482 + Silent SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_052950.3 +1 reviewed p.T254 0.013 73 0% 87 19.5% - - - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 CLN5 1203 genome.wustl.edu 37 13 77574678 77574678 + Silent SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_006493.2 +1 reviewed p.S266 1.000 107 0% 131 29% - - - - - NULL MIR622 693207 genome.wustl.edu 37 13 90883508 90883508 + RNA SNP G G T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 ENST00000385123 +1 known NULL 0.068 55 0% 69 29% - - - - - - STK24 8428 genome.wustl.edu 37 13 99114047 99114047 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_003576.3 -1 validated p.S357L 0.028 170 0% 208 24.5% - - benign(0) tolerated(0.19) neutral(0.050) NULL TEP1 7011 genome.wustl.edu 37 14 20841456 20841456 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_007110.4 -1 reviewed p.R2263W 0.019 115 0% 114 24.6% - - probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 OSGEP 55644 genome.wustl.edu 37 14 20917379 20917379 + Missense_Mutation SNP A A G novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_017807.2 -1 validated p.I153T 1.000 213 0.5% 252 23.8% - - possibly_damaging(0.904) deleterious(0) deleterious(0.803) HMMPfam_Peptidase_M22,superfamily_SSF53067 LOC100288922 100288922 genome.wustl.edu 37 14 23886164 23886164 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 XM_002343268.1 +1 model p.A178T 0.000 133 0% 113 19.5% - - - - - NULL CLEC14A 161198 genome.wustl.edu 37 14 38724727 38724727 + Silent SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_175060.1 -1 provisional p.N167 0.152 54 0% 28 25% - - - - - HMMSmart_CLECT,superfamily_C-type_lectin_fold FANCM 57697 genome.wustl.edu 37 14 45667941 45667941 + Silent SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_020937.2 +1 reviewed p.C1937 1.000 226 0% 223 23.3% - - possibly_damaging(0.482) tolerated(0.24) neutral(0.198) superfamily_Restriction endonuclease-like ARG2 384 genome.wustl.edu 37 14 68112429 68112429 + Silent SNP C C A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001172.3 +1 reviewed p.A144 0.990 100 0% 95 28.4% - - - - - HMMPfam_Arginase,PatternScan_ARGINASE_2,superfamily_Arginase/deacetylase ZFYVE26 23503 genome.wustl.edu 37 14 68249647 68249647 + Missense_Mutation SNP T T C novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_015346.3 -1 reviewed p.I1408V 0.000 198 0% 178 26.4% - - benign(0) tolerated(1) - NULL PNMA1 9240 genome.wustl.edu 37 14 74180253 74180253 + Silent SNP A A G novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_006029.4 -1 validated p.C30 1.000 115 0% 128 24.2% - - - - - NULL DLK1 8788 genome.wustl.edu 37 14 101201015 101201015 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_003836.5 +1 reviewed p.V312M 0.925 92 0% 90 21.1% - - possibly_damaging(0.929) deleterious(0.01) deleterious(0.782) NULL MARK3 4140 genome.wustl.edu 37 14 103932314 103932315 + Frame_Shift_Del DEL GA GA - novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001128918.1 +1 validated p.R264fs 0.999:1.000 - - - - - - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase OCA2 4948 genome.wustl.edu 37 15 28202862 28202862 + Silent SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_000275.2 -1 reviewed p.H552 0.319 44 0% 59 23.7% - - - - - HMMPfam_CitMHS HERC2 8924 genome.wustl.edu 37 15 28389028 28389028 + Silent SNP T T C novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_004667.4 -1 reviewed p.T3803 0.022 208 0% 227 22.9% - - - - - NULL TMOD3 29766 genome.wustl.edu 37 15 52192449 52192449 + Missense_Mutation SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_014547.4 +1 validated p.A278V 1.000 95 0% 92 33.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Tropomodulin,superfamily_SSF52047 SIN3A 25942 genome.wustl.edu 37 15 75684761 75684763 + In_Frame_Del DEL GTT GTT - novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 GTT GTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001145357.1 -1 reviewed p.N891in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL SIN3A 25942 genome.wustl.edu 37 15 75706615 75706615 + Missense_Mutation SNP A A G novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001145357.1 -1 reviewed p.L135P 1.000 77 0% 94 25.5% - - probably_damaging(0.991) deleterious(0.05) deleterious(0.789) superfamily_PAH SV2B 9899 genome.wustl.edu 37 15 91769694 91769694 + Silent SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_014848.4 +1 validated p.A67 0.000 109 0% 70 34.3% - - - - - NULL LRRK1 79705 genome.wustl.edu 37 15 101549158 101549158 + Silent SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_024652.3 +1 validated p.L293 0.298 68 0% 49 24.5% - - - - - HMMSmart_SM00369,HMMSmart_SM00364,superfamily_L domain-like WDR90 197335 genome.wustl.edu 37 16 709252 709252 + Frame_Shift_Del DEL C C - novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_145294.4 +1 provisional p.A1021fs 0.000 - - - - - - - - - NULL MEFV 4210 genome.wustl.edu 37 16 3293384 3293384 + Silent SNP C C T rs104895095 TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_000243.2 -1 reviewed p.A701 0.000 56 0% 106 26.4% - - - - - HMMPfam_SPRY,HMMSmart_SM00449 RSPRY1 89970 genome.wustl.edu 37 16 57246987 57246987 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_133368.1 +1 provisional p.G207D 1.000 170 0% 158 26.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat GPR97 222487 genome.wustl.edu 37 16 57713197 57713197 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_170776.4 +1 validated p.V201I 1.000 131 0% 139 28.1% - - benign(0) deleterious(0.02) neutral(0.383) NULL MMP15 4324 genome.wustl.edu 37 16 58073998 58073998 + Silent SNP C C A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_002428.2 +1 reviewed p.A220 0.902 22 0% 17 29.4% - - - - - HMMPfam_Peptidase_M10,HMMSmart_ZnMc,superfamily_SSF55486 CTCF 10664 genome.wustl.edu 37 16 67646013 67646014 + Frame_Shift_Del DEL AC AC - novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 AC AC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_006565.2 +1 reviewed p.T317fs 1.000:1.000 - - - - - - - - - superfamily_C2H2 and C2HC zinc fingers RANBP10 57610 genome.wustl.edu 37 16 67763215 67763215 + Missense_Mutation SNP C C A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_020850.1 -1 provisional p.Q440H 1.000 40 0% 45 13.3% - - possibly_damaging(0.861) tolerated(0.34) neutral(0.356) NULL LCAT 3931 genome.wustl.edu 37 16 67974002 67974002 + Silent SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_000229.1 -1 reviewed p.S376 0.986 19 0% 28 53.6% - - - - - HMMPfam_LACT,superfamily_alpha/beta-Hydrolases CFDP1 10428 genome.wustl.edu 37 16 75339062 75339062 + Silent SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_006324.2 -1 validated p.G223 1.000 277 0% 307 21.5% - - - - - HMMPfam_BCNT MNT 4335 genome.wustl.edu 37 17 2290573 2290573 + Silent SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_020310.2 -1 reviewed p.H457 0.812 30 0% 26 30.8% - - - - - NULL ZNF594 84622 genome.wustl.edu 37 17 5086202 5086202 + Missense_Mutation SNP G G T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_032530.1 -1 validated p.H450Q 0.046 274 0% 367 23.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 DHX33 56919 genome.wustl.edu 37 17 5347717 5347717 + Silent SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_020162.2 -1 reviewed p.T644 0.991 25 0% 43 27.9% - - - - - HMMPfam_DUF1605 NEURL4 84461 genome.wustl.edu 37 17 7222518 7222518 + Missense_Mutation SNP C C A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_032442.2 -1 validated p.D1179Y 1.000 57 0% 42 11.9% - - probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_Neuralized,HMMSmart_SM00588 TP53 7157 genome.wustl.edu 37 17 7577586 7577586 + Missense_Mutation SNP A A G novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_000546.4 -1 reviewed p.I232T 1.000 84 0% 119 21% - - benign(0.032) deleterious(0.01) neutral(0.407) superfamily_p53-like transcription factors,HMMPfam_P53 PFAS 5198 genome.wustl.edu 37 17 8170105 8170105 + Silent SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_012393.2 +1 reviewed p.L952 1.000 35 0% 26 19.2% - - - - - HMMPfam_AIRS_C,superfamily_PurM C-terminal domain-like SLC5A10 125206 genome.wustl.edu 37 17 18918442 18918442 + Missense_Mutation SNP C C A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_152351.3 +1 validated p.L407I 0.995 59 0% 54 20.4% - - possibly_damaging(0.927) tolerated(0.56) neutral(0.382) HMMPfam_SSF KSR1 8844 genome.wustl.edu 37 17 25877651 25877651 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 ENST00000268763 +1 known p.G20S 0.008 267 0.4% 161 20.5% - - benign(0) tolerated(0.36) neutral(0.020) NULL ALDOC 230 genome.wustl.edu 37 17 26900565 26900565 + Silent SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_005165.2 -1 reviewed p.Y358 0.986 91 0% 80 28.7% - - - - - HMMPfam_Glycolytic,superfamily_Aldolase FLOT2 2319 genome.wustl.edu 37 17 27208928 27208928 + Missense_Mutation SNP T T C novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_004475.2 -1 reviewed p.Q273R 1.000 38 0% 42 23.8% - - benign(0.001) tolerated(0.05) neutral(0.345) NULL GGNBP2 79893 genome.wustl.edu 37 17 34934502 34934502 + Missense_Mutation SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_024835.2 +1 validated p.A244V 1.000 160 0% 215 20.9% - - probably_damaging(0.963) deleterious(0.03) deleterious(0.770) NULL KRTAP4-1 85285 genome.wustl.edu 37 17 39340854 39340854 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 ENST00000398472 -1 known p.R85C 0.964 51 0% 50 28% - - probably_damaging(1) deleterious(0.05) deleterious(0.845) HMMPfam_Keratin_B2 HAP1 9001 genome.wustl.edu 37 17 39881134 39881134 + Missense_Mutation SNP A A G novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_177977.2 -1 reviewed p.L560P 1.000 147 0% 177 24.9% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL GPATCH8 23131 genome.wustl.edu 37 17 42580729 42580729 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001002909.1 -1 validated p.R4C 1.000 15 0% 18 33.3% - - unknown(0) deleterious(0) - NULL GFAP 2670 genome.wustl.edu 37 17 42990697 42990697 + Silent SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_002055.3 -1 reviewed p.T240 0.006 112 0% 105 21.9% - - - - - HMMPfam_Filament NFE2L1 4779 genome.wustl.edu 37 17 46136840 46136842 + In_Frame_Del DEL AGG AGG - novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_003204.2 +1 validated p.E720in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL CCDC40 55036 genome.wustl.edu 37 17 78021186 78021186 + Missense_Mutation SNP G G C novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_017950.2 +1 validated p.V221L 0.000 10 0% 14 35.7% - - benign(0) tolerated(0.52) neutral(0.009) NULL CLUL1 27098 genome.wustl.edu 37 18 618041 618041 + Missense_Mutation SNP G G T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_014410.4 +1 validated p.W14L 0.526 70 0% 69 21.7% - - possibly_damaging(0.807) tolerated(0.43) neutral(0.318) HMMPfam_Clusterin SOGA2 23255 genome.wustl.edu 37 18 8783858 8783858 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_015210.3 +1 predicted p.G250S 1.000 51 0% 65 27.7% - - benign(0.097) tolerated(0.32) neutral(0.032) NULL POTEC 388468 genome.wustl.edu 37 18 14524957 14524957 + Missense_Mutation SNP C C A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001137671.1 -1 validated p.E384D 0.163 164 0% 119 21.8% - - probably_damaging(0.99) tolerated(0.24) deleterious(0.479) NULL ASXL3 80816 genome.wustl.edu 37 18 31324508 31324508 + Missense_Mutation SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_030632.1 +1 provisional p.P1566S 0.437 22 0% 35 37.1% - - benign(0.029) deleterious(0) neutral(0.446) NULL MYO5B 4645 genome.wustl.edu 37 18 47500857 47500857 + Silent SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001080467.2 -1 reviewed p.Q395 1.000 291 0% 284 26.1% - - - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MBD1 4152 genome.wustl.edu 37 18 47803504 47803504 + Missense_Mutation SNP G G T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_015846.3 -1 reviewed p.L61I 1.000 107 0% 66 21.2% - - probably_damaging(0.983) deleterious(0.02) deleterious(0.812) HMMPfam_MBD,HMMSmart_SM00391,superfamily_DNA-binding domain ZNF557 79230 genome.wustl.edu 37 19 7083282 7083282 + Missense_Mutation SNP C C T rs190142455 by1000genomes TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001044387.1 +1 validated p.R274C 0.065 145 0% 141 22.7% - - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 MUC16 94025 genome.wustl.edu 37 19 9004910 9004910 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_024690.2 -1 validated p.P13303L 0.000 58 0% 75 25.3% - - benign(0.001) deleterious(0) neutral(0.445) NULL MUC16 94025 genome.wustl.edu 37 19 9068790 9068790 + Missense_Mutation SNP T T A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_024690.2 -1 validated p.N6219I 0.001 283 0% 530 24.3% - - unknown(0) - - NULL OR7G1 125962 genome.wustl.edu 37 19 9225896 9225896 + Missense_Mutation SNP C C T rs147939135 by1000genomes TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001005192.1 -1 provisional p.V182I 0.000 257 0% 400 26% - - benign(0.004) tolerated(0.25) neutral(0.037) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ZNF699 374879 genome.wustl.edu 37 19 9406689 9406689 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_198535.1 -1 provisional p.A464V 0.000 124 0% 204 20.6% - - probably_damaging(0.993) tolerated(0.36) deleterious(0.470) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 CLEC17A 388512 genome.wustl.edu 37 19 14694191 14694191 + Missense_Mutation SNP G G T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_207390.2 +1 validated p.E22D 0.000 62 0% 88 12.5% - - unknown(0) deleterious(0) - NULL MYO9B 4650 genome.wustl.edu 37 19 17270248 17270248 + Missense_Mutation SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_004145.3 +1 reviewed p.T458M 1.000 31 0% 20 20% - - probably_damaging(0.997) deleterious(0.02) deleterious(0.849) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 RHPN2 85415 genome.wustl.edu 37 19 33471155 33471157 + In_Frame_Del DEL TTA TTA - novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 TTA TTA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_033103.4 -1 reviewed p.N602in_frame_del 1.000:1.000:1.000 - - - - - - - - - superfamily_PDZ RHPN2 85415 genome.wustl.edu 37 19 33535170 33535170 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_033103.4 -1 reviewed p.A57V 1.000 111 0% 150 26% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HR1,HMMSmart_Hr1,superfamily_PKN_effector CEBPG 1054 genome.wustl.edu 37 19 33870519 33870519 + Missense_Mutation SNP A A G novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001806.2 +1 reviewed p.H125R 1.000 45 0% 49 32.7% - - probably_damaging(0.99) deleterious(0.02) deleterious(0.825) NULL ZFP82 284406 genome.wustl.edu 37 19 36883961 36883961 + Silent SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_133466.2 -1 provisional p.C427 0.998 328 0% 459 35.3% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers C19orf47 126526 genome.wustl.edu 37 19 40829936 40829936 + Missense_Mutation SNP C C A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_178830.2 -1 predicted p.A184S 1.000 147 0% 170 24.1% - - possibly_damaging(0.903) tolerated(0.76) neutral(0.359) NULL CCDC97 90324 genome.wustl.edu 37 19 41825633 41825633 + Silent SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_052848.1 +1 provisional p.P219 0.768 119 0% 121 34.7% - - - - - HMMPfam_DUF2052 CKM 1158 genome.wustl.edu 37 19 45810871 45810871 + Missense_Mutation SNP A A G novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001824.2 -1 reviewed p.M272T 1.000 49 0% 31 29% - - benign(0.17) tolerated(0.05) neutral(0.361) HMMPfam_ATP-gua_Ptrans,superfamily_SSF55931 CPT1C 126129 genome.wustl.edu 37 19 50210791 50210791 + Missense_Mutation SNP T T C novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_152359.1 +1 provisional p.F454L 1.000 40 0% 37 27% - - benign(0.078) deleterious(0.04) neutral(0.354) HMMPfam_Carn_acyltransf,PatternScan_ACYLTRANSF_C_2,superfamily_CoA-dependent acyltransferases NLRP12 91662 genome.wustl.edu 37 19 54314085 54314085 + Silent SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_144687.2 -1 reviewed p.S276 0.000 55 0% 42 35.7% - - - - - HMMPfam_NACHT MBOAT7 79143 genome.wustl.edu 37 19 54691157 54691157 + Silent SNP G G T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_024298.3 -1 reviewed p.A73 0.995 11 0% 11 36.4% - - - - - NULL TBC1D20 128637 genome.wustl.edu 37 20 420954 420954 + Missense_Mutation SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_144628.2 -1 validated p.V236M 0.996 36 0% 36 30.6% - - possibly_damaging(0.867) deleterious(0) deleterious(0.781) HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p C20orf141 128653 genome.wustl.edu 37 20 2796055 2796055 + Silent SNP T T G novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_080739.2 +1 validated p.L75 0.016 81 0% 98 18.4% - - - - - NULL C20orf141 128653 genome.wustl.edu 37 20 2796056 2796056 + Missense_Mutation SNP C C G novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_080739.2 +1 validated p.L76V 0.026 81 0% 98 17.3% - - possibly_damaging(0.936) deleterious(0) deleterious(0.826) NULL KIF16B 55614 genome.wustl.edu 37 20 16360433 16360433 + Silent SNP A A G novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 ENST00000450176 -1 known p.M173T 0.936 333 0% 581 25.6% - - - - - NULL C20orf26 26074 genome.wustl.edu 37 20 20257854 20257854 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_015585.3 +1 validated p.V850M 0.213 75 0% 49 38.8% - - probably_damaging(0.964) deleterious(0.01) deleterious(0.812) superfamily_FAD/NAD(P)-binding domain GZF1 64412 genome.wustl.edu 37 20 23350333 23350333 + Silent SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_022482.3 +1 validated p.C580 0.734 186 0% 120 23.3% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers EPB41L1 2036 genome.wustl.edu 37 20 34763489 34763491 + In_Frame_Del DEL AGA AGA - novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_012156.2 +1 reviewed p.K66in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL TTPAL 79183 genome.wustl.edu 37 20 43108645 43108645 + Silent SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001039199.1 +1 validated p.S2 0.989 104 0% 125 26.4% - - - - - NULL SALL4 57167 genome.wustl.edu 37 20 50407891 50407891 + Silent SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_020436.3 -1 reviewed p.A377 0.003 74 1.4% 88 21.6% - - - - - NULL DIDO1 11083 genome.wustl.edu 37 20 61512975 61512975 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_033081.1 -1 reviewed p.P1445S 1.000 14 0% 25 20% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL C21orf59 56683 genome.wustl.edu 37 21 33976522 33976522 + Missense_Mutation SNP C C A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 ENST00000300260 -1 known p.G127C 0.002 117 0% 63 27% - - benign(0) deleterious(0) neutral(0.445) NULL DSCAM 1826 genome.wustl.edu 37 21 42064794 42064794 + Silent SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001389.3 -1 validated p.S150 0.994 157 0% 126 19.8% - - - - - HMMSmart_SM00409,superfamily_Immunoglobulin LOC100128009 100128009 genome.wustl.edu 37 22 17414574 17414574 + Missense_Mutation SNP G G T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 XM_001726296.1 -1 model p.P211H 1.000 249 0% 246 28.9% - - - - - HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin TXNRD2 10587 genome.wustl.edu 37 22 19918613 19918613 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 ENST00000334363 -1 known p.R38W 0.000 110 0% 87 27.6% - - benign(0.009) deleterious(0.04) neutral(0.349) NULL HPS4 89781 genome.wustl.edu 37 22 26860141 26860141 + Silent SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_022081.4 -1 reviewed p.T485 0.000 235 0% 145 22.8% - - - - - NULL PNPLA3 80339 genome.wustl.edu 37 22 44340602 44340602 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_025225.2 +1 reviewed p.D382N 0.004 99 0% 92 21.7% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL SHOX 6473 genome.wustl.edu 37 X 591764 591764 + Silent SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_000451.3 +1 reviewed p.A44 0.998 13 0% 13 61.5% - - - - - NULL ARHGAP6 395 genome.wustl.edu 37 X 11206862 11206862 + Missense_Mutation SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_013427.2 -1 reviewed p.R355W 0.987 246 0% 255 26.7% - - probably_damaging(0.954) deleterious(0) deleterious(0.842) NULL EGFL6 25975 genome.wustl.edu 37 X 13651119 13651119 + Nonsense_Mutation SNP G G T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_015507.3 +1 reviewed p.E523* 1.000 245 0% 252 23.4% - - - - - HMMPfam_MAM,HMMSmart_SM00137 PHEX 5251 genome.wustl.edu 37 X 22095598 22095598 + Silent SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_000444.4 +1 reviewed p.A147 0.085 493 0% 575 20% - - - - - HMMPfam_Peptidase_M13_N,superfamily_SSF55486 ZFX 7543 genome.wustl.edu 37 X 24228853 24228853 + Missense_Mutation SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_003410.3 +1 reviewed p.T593M 1.000 401 0% 329 24.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers DCAF8L2 347442 genome.wustl.edu 37 X 27765127 27765127 + Missense_Mutation SNP A A G novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001136533.1 +1 provisional p.I39V 0.000 13 0% 34 20.6% - - - - - NULL FAM47C 442444 genome.wustl.edu 37 X 37027101 37027101 + Silent SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001013736.2 +1 validated p.P206 0.003 187 0.5% 121 33.1% - - - - - NULL USP9X 8239 genome.wustl.edu 37 X 41060457 41060457 + Missense_Mutation SNP A A G novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001039590.2 +1 reviewed p.N1583S 1.000 198 0% 211 16.6% - - benign(0.005) tolerated(0.55) neutral(0.007) HMMPfam_UCH,superfamily_Cysteine proteinases PQBP1 10084 genome.wustl.edu 37 X 48759749 48759749 + Missense_Mutation SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001032381.1 +1 reviewed p.H178Y 0.978 28 0% 19 42.1% - - benign(0) tolerated(1) - NULL KDM5C 8242 genome.wustl.edu 37 X 53223716 53223717 + Frame_Shift_Del DEL AC AC - novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 AC AC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_004187.3 -1 reviewed p.V1216fs 0.998:1.000 - - - - - - - - - HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger,PatternScan_ZF_PHD_1,HMMPfam_PHD FOXR2 139628 genome.wustl.edu 37 X 55650270 55650270 + Silent SNP T T C novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_198451.3 +1 validated p.A42 0.373 184 0% 156 28.2% - - - - - NULL KLHL4 56062 genome.wustl.edu 37 X 86924385 86924385 + Silent SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_057162.2 +1 reviewed p.L718 0.001 195 0% 203 23.2% - - - - - NULL PCDH11X 27328 genome.wustl.edu 37 X 91090945 91090945 + Missense_Mutation SNP A A G novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_032968.3 +1 reviewed p.I148V 1.000 155 0% 192 21.4% - - probably_damaging(0.993) tolerated(0.3) deleterious(0.479) HMMPfam_Cadherin,superfamily_Cadherin-like PCDH19 57526 genome.wustl.edu 37 X 99662948 99662948 + Silent SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001105243.1 -1 reviewed p.P216 0.740 54 0% 39 15.4% - - - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin ALG13 79868 genome.wustl.edu 37 X 110951600 110951600 + Silent SNP C C A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 ENST00000394780 +1 known p.L243 1.000 317 0% 399 26.6% - - - - - HMMPfam_OTU,superfamily_SSF54001 LRCH2 57631 genome.wustl.edu 37 X 114468285 114468285 + Missense_Mutation SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_020871.3 -1 validated p.G107D 0.909 4 0.000 10 0.400 - - possibly_damaging(0.527) tolerated(0.23) neutral(0.220) superfamily_SSF52058 RNF113A 7737 genome.wustl.edu 37 X 119005322 119005322 + Silent SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_006978.2 -1 reviewed p.S85 0.999 203 0% 259 23.2% - - - - - NULL AKAP14 158798 genome.wustl.edu 37 X 119037261 119037261 + Silent SNP G G A novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_178813.5 +1 reviewed p.P25 0.000 187 0% 187 25.1% - - - - - NULL NKAP 79576 genome.wustl.edu 37 X 119066144 119066144 + Missense_Mutation SNP C C T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_024528.3 -1 reviewed p.R258K 0.467 221 0% 240 26.7% - - unknown(0) tolerated(1) - NULL NKAP 79576 genome.wustl.edu 37 X 119068461 119068461 + Missense_Mutation SNP T T C novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_024528.3 -1 reviewed p.R245G 0.591 141 0% 121 28.9% - - unknown(0) tolerated(0.09) - NULL DNASE1L1 1774 genome.wustl.edu 37 X 153633811 153633812 + Frame_Shift_Ins INS - - T novel TCGA-A5-A0GW-01A-11W-A062-09 TCGA-A5-A0GW-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 68e69d98-8db7-4800-a5f5-419bcd63b323 c78f5bf8-3f2a-49c8-bca9-ea5f98440716 NM_001009932.1 -1 reviewed p.V34fs 0.976:0.990 - - - - - - - - - HMMPfam_Exo_endo_phos,superfamily_Exo_endo_phos,HMMSmart_DNaseIc