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 CCDC27 148870 genome.wustl.edu 37 1 3679934 3679934 + Missense_Mutation SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_152492.2 +1 validated p.S406L 0.000 30 0% 41 46.3% 0 - possibly_damaging(0.602) deleterious(0.01) deleterious(0.614) NULL RPL22 6146 ucsc.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T - - novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_000983.3 -1 reviewed p.K15fs 1 - - - - - - - - - HMMPfam_Ribosomal_L22e ARID1A 8289 genome.wustl.edu 37 1 27106896 27106897 + In_Frame_Ins INS - - CTG novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_006015.4 +1 reviewed p.2171in_frame_insL 1.000:1.000 - - - - - - - - - NULL PHC2 1912 genome.wustl.edu 37 1 33795739 33795739 + Missense_Mutation SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_198040.2 -1 reviewed p.A693V 0.334 24 0% 27 55.6% 133 45.8% benign(0.311) tolerated(0.31) neutral(0.124) NULL PGM1 5236 genome.wustl.edu 37 1 64089430 64089430 + Missense_Mutation SNP G G T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba ENST00000371083 +1 known p.G100V 1.000 99 0% 80 38.8% 2 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_PGM_PMM_I,superfamily_A-D-PHexomutase_a/b/a-I/II/III GLMN 11146 genome.wustl.edu 37 1 92712653 92712653 + Missense_Mutation SNP T T C novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_053274.2 -1 reviewed p.E545G 1.000 240 0% 310 18.7% 4 100% possibly_damaging(0.445) tolerated(0.08) neutral(0.446) HMMPfam_FKBP12 PALMD 54873 genome.wustl.edu 37 1 100154788 100154788 + Silent SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_017734.4 +1 validated p.P324 0.009 226 0% 233 42.1% 100 40% - - - NULL LOC100129138 100129138 genome.wustl.edu 37 1 104616052 104616052 + RNA SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba XR_036957.2 +1 model NULL 0.078 39 0% 24 66.7% 0 - - - - - WDR77 79084 genome.wustl.edu 37 1 111990091 111990091 + Missense_Mutation SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_024102.2 -1 provisional p.G137S 0.989 106 0% 69 49.3% 81 25.9% benign(0.005) tolerated(0.29) neutral(0.029) HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 CD160 11126 genome.wustl.edu 37 1 145704052 145704052 + Missense_Mutation SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_007053.2 -1 validated p.R122H 0.001 782 0.1% 952 29.3% 0 - benign(0.008) tolerated(0.22) neutral(0.042) NULL BCAN 63827 genome.wustl.edu 37 1 156626136 156626136 + Missense_Mutation SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_021948.3 +1 validated p.R669C 1.000 102 0% 131 28.2% 0 - probably_damaging(0.999) tolerated(0.09) deleterious(0.787) HMMPfam_EGF,HMMSmart_SM00181,superfamily_EGF/Laminin SH2D2A 9047 genome.wustl.edu 37 1 156785879 156785879 + Silent SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_003975.3 -1 reviewed p.H14 0.000 48 0% 45 24.4% 1 0% - - - NULL ATP1A2 477 genome.wustl.edu 37 1 160097393 160097393 + Missense_Mutation SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_000702.3 +1 reviewed p.R267H 1.000 147 0% 172 30.2% 1 100% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_E1-E2_ATPase,superfamily_SSF81653,superfamily_SSF81665 LMX1A 4009 genome.wustl.edu 37 1 165218837 165218837 + Missense_Mutation SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_177398.3 -1 validated p.A102T 1.000 87 0% 98 24.5% 0 - benign(0.001) tolerated(0.14) neutral(0.249) HMMPfam_LIM,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain) MIR199A2 406977 genome.wustl.edu 37 1 172113757 172113757 + RNA SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba ENST00000385289 -1 known NULL 1.000 139 0% 219 62.6% 0 - - - - - CENPL 91687 genome.wustl.edu 37 1 173772216 173772216 + Missense_Mutation SNP A A G novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_001127181.2 -1 validated p.F329S 1.000 132 0% 190 17.4% 6 0% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL PRELP 5549 genome.wustl.edu 37 1 203452495 203452495 + Silent SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_002725.3 +1 reviewed p.P61 0.965 306 0% 319 32.3% 0 - - - - superfamily_L domain-like NFASC 23114 genome.wustl.edu 37 1 204948557 204948557 + Silent SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba ENST00000367173 +1 known p.P652L 0.976 54 0% 97 30.9% 2 0% - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III USH2A 7399 genome.wustl.edu 37 1 216017814 216017814 + Missense_Mutation SNP T T G novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_206933.2 -1 reviewed p.E3027A 1.000 233 0% 367 31.1% 0 - probably_damaging(0.991) tolerated(0.67) neutral(0.447) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III SUSD4 55061 genome.wustl.edu 37 1 223396819 223396819 + Missense_Mutation SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_017982.3 -1 validated p.V406M 0.594 65 0% 31 29% 2 0% benign(0.029) tolerated(0.18) neutral(0.058) NULL ZNF496 84838 genome.wustl.edu 37 1 247464264 247464264 + Missense_Mutation SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_032752.1 -1 provisional p.G441R 1.000 37 0% 58 27.6% 51 23.5% possibly_damaging(0.719) deleterious(0.04) deleterious(0.609) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 DNMT3A 1788 genome.wustl.edu 37 2 25457158 25457158 + Missense_Mutation SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_022552.3 -1 reviewed p.A910V 1.000 73 0% 83 49.4% 70 47.1% possibly_damaging(0.725) deleterious(0) deleterious(0.708) NULL CAD 790 genome.wustl.edu 37 2 27460967 27460967 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba ENST00000458503 +1 known p.Q243* 1.000 36 0% 41 34.1% 29 62% probably_damaging(0.962) deleterious(0) deleterious(0.850) superfamily_Metallo-dependent hydrolases MFSD9 84804 genome.wustl.edu 37 2 103348781 103348783 + In_Frame_Del DEL CTA CTA - novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 CTA CTA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_032718.3 -1 validated p.V84in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter C2orf49 79074 genome.wustl.edu 37 2 105953938 105953939 + Frame_Shift_Ins INS - - C rs3217439 byCluster;by1000genomes TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba ENST00000437250 +1 known p.L4fs 0.881:0.072 - - - - - - - - - NULL NEB 4703 genome.wustl.edu 37 2 152359956 152359956 + Splice_Site SNP C C A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_004543.4 -1 reviewed e137-1 1.000 102 0% 77 49.4% 0 - - - - - GAD1 2571 genome.wustl.edu 37 2 171716238 171716238 + Missense_Mutation SNP C C G novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_000817.2 +1 reviewed p.A544G 1.000 67 0% 60 56.7% 4 75% probably_damaging(0.994) tolerated(0.25) deleterious(0.489) superfamily_PLP-dependent transferases TTN 7273 genome.wustl.edu 37 2 179453672 179453672 + Missense_Mutation SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba ENST00000356127 -1 known p.R18357H 1.000 67 0% 96 38.5% 0 - possibly_damaging(0.737) - - HMMPfam_fn3,HMMSmart_SM00060 DNAH7 56171 genome.wustl.edu 37 2 196825024 196825024 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_018897.2 -1 validated p.R951* 1.000 229 0% 308 11.7% 0 - - - - HMMPfam_DHC_N2 HECW2 57520 genome.wustl.edu 37 2 197184005 197184005 + Missense_Mutation SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_020760.1 -1 provisional p.A537T 0.036 79 0% 64 50% 2 50% benign(0.002) tolerated(1) - NULL NOP58 51602 genome.wustl.edu 37 2 203165016 203165016 + Missense_Mutation SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_015934.3 +1 provisional p.R443H 1.000 424 0% 320 45.3% 24 50% probably_damaging(0.998) deleterious(0.04) deleterious(0.823) NULL NRP2 8828 genome.wustl.edu 37 2 206608018 206608018 + Silent SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_201266.1 +1 reviewed p.S461 1.000 195 0% 125 12.8% 8 37.5% - - - HMMPfam_F5_F8_type_C,HMMSmart_SM00231,superfamily_Galactose-binding domain-like IGFBP2 3485 genome.wustl.edu 37 2 217526640 217526640 + Missense_Mutation SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba ENST00000436812 +1 known p.R67Q 0.001 40 0% 41 51.2% 1600 49% unknown(0) - - NULL TNS1 7145 genome.wustl.edu 37 2 218712887 218712889 + In_Frame_Del DEL GCT GCT - novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 GCT GCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_022648.4 -1 reviewed p.Q659in_frame_del 1.000:1.000:0.994 - - - - - - - - - NULL ABCB6 10058 genome.wustl.edu 37 2 220077769 220077769 + Silent SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba ENST00000295750 -1 known p.T456M 0.708 16 0% 19 26.3% 32 3.1% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases NCL 4691 genome.wustl.edu 37 2 232325441 232325441 + Missense_Mutation SNP G G T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_005381.2 -1 reviewed p.D250E 0.016 301 0.3% 292 43.2% 1349 41.4% unknown(0) tolerated(1) - NULL TBC1D5 9779 genome.wustl.edu 37 3 17425426 17425426 + Silent SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_001134381.1 -1 validated p.N197 0.999 96 0% 99 46.5% 2 0% - - - HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p NKTR 4820 genome.wustl.edu 37 3 42679208 42679208 + Missense_Mutation SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_005385.3 +1 reviewed p.S671L 0.963 291 0% 267 47.2% 1 0% unknown(0) deleterious(0) - NULL MAP4 4134 genome.wustl.edu 37 3 47951282 47951282 + Missense_Mutation SNP G G C novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_030884.3 -1 reviewed p.I150M 0.000 245 0% 272 50.7% 0 - possibly_damaging(0.917) deleterious(0) deleterious(0.812) NULL PTPRG 5793 genome.wustl.edu 37 3 62278200 62278200 + Missense_Mutation SNP A A G novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_002841.3 +1 reviewed p.N1387S 1.000 334 0% 275 46.5% 9 55.5% possibly_damaging(0.837) tolerated(0.12) deleterious(0.580) HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II CADPS 8618 genome.wustl.edu 37 3 62464048 62464048 + Missense_Mutation SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_003716.3 -1 reviewed p.A1073T 1.000 109 0% 88 45.5% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL GSK3B 2932 genome.wustl.edu 37 3 119562149 119562149 + Missense_Mutation SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_002093.3 -1 reviewed p.R396Q 1.000 119 0% 123 13.8% 48 0% benign(0.012) tolerated(0.1) neutral(0.287) NULL MYLK 4638 genome.wustl.edu 37 3 123383094 123383094 + Silent SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_053025.3 -1 reviewed p.S1281 0.773 238 0% 189 56.1% 9 44.4% - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin AMOTL2 51421 genome.wustl.edu 37 3 134080403 134080403 + Missense_Mutation SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_016201.2 -1 reviewed p.R509H 1.000 11 0% 15 53.3% 10 20% probably_damaging(1) deleterious(0) deleterious(0.945) NULL KIAA0226 9711 genome.wustl.edu 37 3 197444856 197444856 + Missense_Mutation SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_001145642.2 -1 validated p.R11C 1.000 235 0% 184 48.9% 4 75% benign(0.002) deleterious(0.04) neutral(0.349) NULL GRK4 2868 genome.wustl.edu 37 4 3021472 3021472 + Silent SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_182982.2 +1 reviewed p.P282 0.885 171 0% 102 50% 0 - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase EVC2 132884 genome.wustl.edu 37 4 5630291 5630291 + Silent SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_147127.4 -1 reviewed p.H627 0.007 85 0% 66 43.9% 1 0% - - - NULL CHIC2 26511 genome.wustl.edu 37 4 54880236 54880237 + Frame_Shift_Ins INS - - TATA novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_012110.2 -1 reviewed p.H128fs 1.000:1.000 - - - - - - - - - HMMPfam_Erf4 DMP1 1758 genome.wustl.edu 37 4 88584074 88584074 + Missense_Mutation SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_004407.3 +1 reviewed p.D382N 0.203 767 0% 314 47.1% 1 0% benign(0.101) tolerated(0.29) neutral(0.037) HMMPfam_DMP1 HERC3 8916 genome.wustl.edu 37 4 89527178 89527178 + Silent SNP T T C novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_014606.1 +1 provisional p.H68 0.560 100 0% 66 45.5% 1 100% - - - HMMPfam_RCC1,superfamily_RCC1/BLIP-II FBXW7 55294 genome.wustl.edu 37 4 153273708 153273708 + Missense_Mutation SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_018315.4 -1 validated p.R59W 1.000 121 0% 148 12.8% 0 - unknown(0) deleterious(0) - NULL FAT1 2195 genome.wustl.edu 37 4 187509893 187509893 + Silent SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba ENST00000512772 -1 known p.R320C 0.570 124 0% 112 47.3% 170 38.2% - - - NULL RICTOR 253260 genome.wustl.edu 37 5 38996929 38996929 + Missense_Mutation SNP C C G novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_152756.3 -1 validated p.V150L 1.000 335 0% 388 51.8% 0 - benign(0.159) tolerated(0.14) neutral(0.264) superfamily_ARM repeat PIK3R1 5295 genome.wustl.edu 37 5 67591132 67591134 + In_Frame_Del DEL GAC GAC - novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 GAC GAC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_181523.1 +1 reviewed p.T576in_frame_del 1.000:1.000:0.999 - - - - - - - - - NULL FBN2 2201 genome.wustl.edu 37 5 127654571 127654571 + Missense_Mutation SNP C C A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_001999.3 -1 reviewed p.D1532Y 1.000 158 0% 159 44.7% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00179,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin CDKL3 51265 genome.wustl.edu 37 5 133642368 133642368 + Missense_Mutation SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_001113575.1 -1 reviewed p.R464C 0.952 44 0% 53 45.3% 0 - benign(0.029) deleterious(0) neutral(0.446) NULL BRD8 10902 genome.wustl.edu 37 5 137496603 137496603 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_139199.1 -1 reviewed p.R802* 0.970 445 0% 363 46.8% 41 24.3% - - - HMMSmart_SM00297,superfamily_Bromodomain PCDHB4 56131 genome.wustl.edu 37 5 140502135 140502135 + Silent SNP T T C novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_018938.2 +1 reviewed p.S185 0.002 91 0% 106 50.9% 0 - - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin TSPAN17 26262 genome.wustl.edu 37 5 176083740 176083740 + Missense_Mutation SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_012171.1 +1 validated p.V227M 1.000 35 0% 32 34.4% 31 45.1% probably_damaging(0.988) deleterious(0) deleterious(0.882) superfamily_Tetraspanin,HMMPfam_Tetraspannin GRM6 2916 genome.wustl.edu 37 5 178408805 178408805 + Silent SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_000843.3 -1 reviewed p.S829 1.000 29 0% 24 54.2% 0 - - - - HMMPfam_7tm_3 ENSG00000250311 0 genome.wustl.edu 37 6 26478487 26478489 + RNA DEL CTT CTT - novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba ENST00000511597 -1 known NULL 0.989:1.000:1.000 - - - - - - - - - - HIST1H4L 8368 genome.wustl.edu 37 6 27841231 27841231 + Missense_Mutation SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_003546.2 -1 reviewed p.R20C 1.000 47 0% 42 14.3% 0 - unknown(0) deleterious(0) - HMMSmart_SM00417,superfamily_Histone-fold CUL9 23113 genome.wustl.edu 37 6 43188269 43188269 + Missense_Mutation SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_015089.2 +1 validated p.D2119N 1.000 129 0.8% 162 43.8% 41 41.4% probably_damaging(0.998) deleterious(0.04) deleterious(0.823) superfamily_RING/U-box BAI3 577 genome.wustl.edu 37 6 70049294 70049294 + Silent SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_001704.2 +1 reviewed p.A1119 0.998 278 0% 239 42.7% 3 0% - - - HMMPfam_7tm_2 IRAK1BP1 134728 genome.wustl.edu 37 6 79577442 79577442 + Missense_Mutation SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_001010844.1 +1 provisional p.T50I 0.858 39 0% 33 33.3% 4 25% benign(0.244) tolerated(0.17) neutral(0.083) NULL LAMA2 3908 genome.wustl.edu 37 6 129649469 129649469 + Missense_Mutation SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_000426.3 +1 reviewed p.R1408H 0.013 220 0% 230 45.2% 1 0% benign(0.005) tolerated(0.09) neutral(0.296) HMMPfam_Laminin_EGF,superfamily_ConA_like_lec_gl HIVEP2 3097 genome.wustl.edu 37 6 143092591 143092591 + Silent SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_006734.3 -1 provisional p.G1095 0.224 39 0% 43 46.5% 7 42.8% - - - NULL MTHFD1L 25902 genome.wustl.edu 37 6 151331015 151331015 + Missense_Mutation SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_015440.3 +1 validated p.R729Q 1.000 179 0% 139 49.6% 21 28.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FTHFS,superfamily_P-loop containing nucleoside triphosphate hydrolases PARK2 5071 genome.wustl.edu 37 6 162206907 162206907 + Silent SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_004562.2 -1 reviewed p.R256 1.000 41 0% 54 57.4% 2 100% - - - NULL ABCB5 340273 genome.wustl.edu 37 7 20738159 20738159 + Missense_Mutation SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_178559.5 +1 validated p.A269T 0.987 56 0% 49 51% 0 - benign(0.008) deleterious(0.05) neutral(0.345) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain TBX20 57057 genome.wustl.edu 37 7 35288338 35288338 + Missense_Mutation SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_001077653.2 -1 reviewed p.R166W 1.000 19 0% 19 52.6% 1 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_T-box,HMMSmart_TBOX,superfamily_P53_like_DNA_bnd LOC100132308 100132308 genome.wustl.edu 37 7 63020463 63020463 + Missense_Mutation SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba XM_001715240.2 +1 model p.V205I 1.000 14 0% 24 29.2% 2 0% - - - HMMPfam_Nucleoside_tran GTF2IRD2 84163 genome.wustl.edu 37 7 74211395 74211395 + Missense_Mutation SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_173537.2 -1 validated p.G819D 0.925 347 0% 286 32.5% 9 11.1% probably_damaging(0.983) tolerated(0.28) neutral(0.461) NULL RHBDD2 57414 genome.wustl.edu 37 7 75517573 75517573 + Missense_Mutation SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_001040456.1 +1 validated p.T334M 0.102 44 0% 63 11.1% 146 16.4% possibly_damaging(0.456) deleterious(0.01) deleterious(0.555) NULL TRRAP 8295 genome.wustl.edu 37 7 98551030 98551030 + Missense_Mutation SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_003496.2 +1 validated p.A1877T 1.000 147 0% 80 52.5% 19 73.6% probably_damaging(1) tolerated(0.15) deleterious(0.741) superfamily_ARM repeat ZNF394 84124 genome.wustl.edu 37 7 99097348 99097348 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_032164.2 -1 provisional p.W123* 0.992 145 0% 141 41.8% 9 33.3% - - - HMMPfam_SCAN,HMMSmart_SM00431 EPO 2056 genome.wustl.edu 37 7 100319326 100319326 + Silent SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_000799.2 +1 reviewed p.T53 1.000 31 0% 31 54.8% 0 - - - - HMMPfam_EPO_TPO,superfamily_4_helix_cytokine,PatternScan_EPO_TPO MUC3A 4584 genome.wustl.edu 37 7 100552197 100552197 + Silent SNP T T C novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba XM_001725354.2 +1 model p.L926 0.003 445 0.2% 386 23.3% 0 - - - - NULL OPN1SW 611 genome.wustl.edu 37 7 128415072 128415072 + Silent SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_001708.2 -1 reviewed p.G163 0.005 68 0% 60 38.3% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like TNPO3 23534 genome.wustl.edu 37 7 128630110 128630110 + Missense_Mutation SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_012470.2 -1 validated p.R468H 0.950 132 0% 126 37.3% 23 69.5% benign(0.002) tolerated(0.42) neutral(0.014) superfamily_ARM repeat CSPP1 79848 genome.wustl.edu 37 8 68107733 68107733 + Missense_Mutation SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_001077204.1 +1 validated p.R1226C 0.013 249 0% 349 14.6% 10 0% possibly_damaging(0.95) deleterious(0) deleterious(0.838) NULL TMEM65 157378 genome.wustl.edu 37 8 125335564 125335564 + Missense_Mutation SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_194291.2 -1 validated p.A157V 1.000 71 0% 57 12.3% 5 0% benign(0.025) deleterious(0) neutral(0.446) HMMPfam_DUF2453 TMEM71 137835 genome.wustl.edu 37 8 133764099 133764099 + Silent SNP G G A rs183699304 by1000genomes TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_144649.2 -1 validated p.C82 0.814 442 0% 307 50.8% 1 0% - - - NULL JAK2 3717 genome.wustl.edu 37 9 5126705 5126705 + Missense_Mutation SNP T T G novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_004972.3 +1 reviewed p.C1105G 1.000 92 0% 92 41.3% 7 28.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like PTPRD 5789 genome.wustl.edu 37 9 8528597 8528597 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_002839.3 -1 reviewed p.R179* 1.000 475 0% 528 47% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin BNC2 54796 genome.wustl.edu 37 9 16552698 16552698 + Missense_Mutation SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_017637.5 -1 validated p.V167I 1.000 112 0% 103 47.6% 0 - possibly_damaging(0.533) deleterious(0.02) deleterious(0.563) NULL TRBV20OR9-2 6962 genome.wustl.edu 37 9 33618444 33618444 + Silent SNP C C A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba ENST00000379435 +1 known p.S110 0.000 97 0% 108 13.9% 0 - - - - HMMPfam_V-set,superfamily_SSF48726 UNC13B 10497 genome.wustl.edu 37 9 35381682 35381682 + Missense_Mutation SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_006377.3 +1 reviewed p.R792C 1.000 181 0% 218 45.9% 26 42.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LOC642406 642406 genome.wustl.edu 37 9 40610116 40610116 + Missense_Mutation SNP G G T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba XM_002344253.1 -1 model p.P40H 0.989 56 0% 87 8% 1 0% - - - HMMSmart_SM00231,superfamily_Galactose-binding domain-like PCSK5 5125 genome.wustl.edu 37 9 78789992 78789992 + Missense_Mutation SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_006200.3 +1 reviewed p.R616H 1.000 193 0% 228 49.6% 4 0% possibly_damaging(0.92) tolerated(0.12) deleterious(0.631) NULL SHC3 53358 genome.wustl.edu 37 9 91657028 91657028 + Missense_Mutation SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_016848.4 -1 validated p.V425I 0.995 147 0% 113 15.9% 1 0% possibly_damaging(0.91) tolerated(0.26) neutral(0.396) NULL MUSK 4593 genome.wustl.edu 37 9 113530241 113530241 + Silent SNP G G A rs139945437 by1000genomes TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_005592.3 +1 reviewed p.T354 0.013 276 0% 239 42.7% 0 - - - - HMMPfam_Fz OLFML2A 169611 genome.wustl.edu 37 9 127572305 127572305 + Missense_Mutation SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_182487.2 +1 validated p.V525M 1.000 16 0% 24 54.2% 2 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_OLF,HMMSmart_SM00284 GARNL3 84253 genome.wustl.edu 37 9 130145790 130145790 + Silent SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_032293.4 +1 validated p.F745 1.000 149 0% 130 46.9% 0 - - - - HMMPfam_CNH,HMMSmart_SM00036 AKR1C1 1645 genome.wustl.edu 37 10 5011055 5011055 + Silent SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba ENST00000442997 +1 known p.S130L 0.943 238 0% 177 42.9% 4 0% - - - HMMPfam_Aldo_ket_red,superfamily_NAD(P)-linked oxidoreductase,PatternScan_ALDOKETO_REDUCTASE_2 CUL2 8453 genome.wustl.edu 37 10 35305157 35305157 + Missense_Mutation SNP A A G novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_003591.2 -1 provisional p.L617S 1.000 64 0% 48 12.5% 3 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Cullin,superfamily_Cullin homology domain OGDHL 55753 genome.wustl.edu 37 10 50966551 50966551 + Missense_Mutation SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_018245.2 -1 validated p.R30C 0.005 14 0% 20 40% 9 77.7% benign(0) deleterious(0.01) neutral(0.406) NULL ARID5B 84159 genome.wustl.edu 37 10 63850844 63850845 + Frame_Shift_Del DEL CA CA - novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_032199.2 +1 validated p.L542fs 0.005:0.000 - - - - - - - - - NULL ZNF365 22891 genome.wustl.edu 37 10 64148296 64148296 + Missense_Mutation SNP G G C novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_199451.2 +1 reviewed p.Q295H 1.000 60 0% 43 46.5% 0 - possibly_damaging(0.476) deleterious(0.02) deleterious(0.540) NULL MAT1A 4143 genome.wustl.edu 37 10 82043703 82043703 + Silent SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_000429.2 -1 reviewed p.I87 1.000 44 0% 43 41.9% 10 0% - - - HMMPfam_S-AdoMet_synt_N,superfamily_S-AdoMet_synt AGAP11 119385 genome.wustl.edu 37 10 88768445 88768445 + Missense_Mutation SNP C C A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_133447.1 +1 validated p.L146M 0.695 510 0% 394 46.4% 0 - - - - HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 PTEN 5728 genome.wustl.edu 37 10 89717672 89717672 + Nonsense_Mutation SNP C C T rs121909219 byCluster TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba ENST00000371953 +1 known p.R233* 0.984 271 0.4% 322 45.7% 92 6.5% - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 PTEN 5728 genome.wustl.edu 37 10 89725043 89725043 + Splice_Site SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba ENST00000371953 +1 known e9-1 1.000 82 0% 75 45.3% 0 - - - - - DPCD 25911 genome.wustl.edu 37 10 103361062 103361062 + Missense_Mutation SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_015448.1 +1 provisional p.R125C 1.000 60 0% 62 50% 125 52% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LGR4 55366 genome.wustl.edu 37 11 27414057 27414057 + Missense_Mutation SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_018490.2 -1 validated p.A89V 1.000 57 0% 65 47.7% 8 37.5% probably_damaging(0.978) deleterious(0.01) deleterious(0.826) HMMPfam_LRR_1,superfamily_SSF52058 AHNAK 79026 genome.wustl.edu 37 11 62291324 62291324 + Missense_Mutation SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_001620.1 -1 validated p.P3522L 1.000 161 0.6% 246 41.9% 12 50% benign(0) tolerated(0.74) neutral(0.002) NULL SIPA1 6494 genome.wustl.edu 37 11 65417455 65417455 + Silent SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_006747.3 +1 reviewed p.D927 0.976 11 0% 27 63% 158 35.4% - - - NULL PACS1 55690 genome.wustl.edu 37 11 65984193 65984193 + Missense_Mutation SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_018026.2 +1 reviewed p.R309W 0.685 59 0% 38 47.4% 15 53.3% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL STARD10 10809 genome.wustl.edu 37 11 72466754 72466754 + Missense_Mutation SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_006645.2 -1 validated p.A208T 1.000 23 0% 15 40% 156 48.7% benign(0.108) deleterious(0.01) neutral(0.414) HMMPfam_START,HMMSmart_START,superfamily_SSF55961 C2CD3 26005 genome.wustl.edu 37 11 73814558 73814558 + Missense_Mutation SNP A A G novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_015531.4 -1 validated p.L733P 0.000 310 0% 334 44.3% 1 100% probably_damaging(0.979) deleterious(0.01) deleterious(0.828) NULL ALG8 79053 genome.wustl.edu 37 11 77835216 77835216 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_024079.4 -1 reviewed p.W73* 1.000 212 0% 207 38.2% 15 26.6% - - - HMMPfam_Alg6_Alg8 APOC3 345 genome.wustl.edu 37 11 116701581 116701581 + Missense_Mutation SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_000040.1 +1 reviewed p.V50M 0.015 10 0.000 9 0.556 0 - possibly_damaging(0.481) tolerated(0.15) neutral(0.400) HMMPfam_Apo-CIII OR4D5 219875 genome.wustl.edu 37 11 123811102 123811102 + Missense_Mutation SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_001001965.1 +1 provisional p.R260K 0.945 290 0% 306 48% 0 - probably_damaging(0.989) tolerated(0.05) deleterious(0.785) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like USP5 8078 genome.wustl.edu 37 12 6969622 6969622 + Missense_Mutation SNP G G T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_001098536.1 +1 validated p.Q437H 1.000 105 1% 72 47.2% 23 69.5% benign(0.005) tolerated(0.62) neutral(0.004) HMMPfam_UCH,superfamily_Cysteine proteinases WBP11 51729 genome.wustl.edu 37 12 14949866 14949866 + Frame_Shift_Del DEL T T - novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_016312.2 -1 reviewed p.T88fs 1.000 - - - - - - - - - HMMPfam_Wbp11 ERP27 121506 genome.wustl.edu 37 12 15068492 15068492 + Silent SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_152321.2 -1 validated p.L235 0.002 218 0% 141 43.3% 0 - - - - superfamily_Thiordxn-like_fd LRRK2 120892 genome.wustl.edu 37 12 40704417 40704417 + Missense_Mutation SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_198578.3 +1 reviewed p.R1501Q 1.000 330 0% 318 50.3% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_SSF52540 ASIC1 41 genome.wustl.edu 37 12 50471078 50471078 + Missense_Mutation SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_020039.2 +1 reviewed p.T214M 0.998 75 0% 50 40% 15 26.6% benign(0.089) tolerated(0.62) neutral(0.010) HMMPfam_ASC KRT80 144501 genome.wustl.edu 37 12 52565197 52565197 + Silent SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_182507.2 -1 reviewed p.S448 0.008 128 0% 100 36% 1 100% - - - NULL LRP1 4035 genome.wustl.edu 37 12 57584635 57584635 + Missense_Mutation SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_002332.2 +1 reviewed p.R2360Q 1.000 57 0% 49 10.2% 9 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ldl_recept_b,HMMSmart_SM00135,superfamily_YWTD domain LRP1 4035 genome.wustl.edu 37 12 57601869 57601869 + Missense_Mutation SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_002332.2 +1 reviewed p.G3970R 1.000 10 0% 18 33.3% 83 38.5% probably_damaging(0.974) tolerated(0.37) neutral(0.435) HMMPfam_Ldl_recept_b,HMMSmart_SM00135,superfamily_YWTD domain NAV3 89795 genome.wustl.edu 37 12 78362373 78362373 + Missense_Mutation SNP C C A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_014903.4 +1 validated p.H188N 1.000 104 0% 80 45% 0 - possibly_damaging(0.812) tolerated(0.08) deleterious(0.605) superfamily_Calponin-homology domain CH-domain PLXNC1 10154 genome.wustl.edu 37 12 94692519 94692519 + Missense_Mutation SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_005761.1 +1 provisional p.E1396K 1.000 125 0% 86 43% 0 - possibly_damaging(0.923) tolerated(0.43) neutral(0.386) superfamily_Rho_GAP,HMMPfam_Plexin_cytopl VSIG10 54621 genome.wustl.edu 37 12 118517241 118517241 + Missense_Mutation SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_019086.5 -1 validated p.E279K 0.368 102 0% 107 43% 20 25% benign(0) tolerated(0.8) neutral(0.001) superfamily_Immunoglobulin CIT 11113 genome.wustl.edu 37 12 120263005 120263005 + Silent SNP G G T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_007174.1 -1 validated p.T307 0.795 117 0% 130 17.7% 0 - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase LOC100288312 100288312 genome.wustl.edu 37 12 125396905 125396905 + Missense_Mutation SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba XM_002343222.1 +1 model p.E263K 0.277 214 0% 297 23.6% 6298 21.8% - - - NULL POSTN 10631 genome.wustl.edu 37 13 38160990 38160990 + Missense_Mutation SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_006475.2 -1 validated p.R228C 1.000 76 0% 68 42.6% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Fasciclin,HMMSmart_SM00554,superfamily_FAS1 domain RB1 5925 genome.wustl.edu 37 13 48941648 48941648 + Nonsense_Mutation SNP C C T rs121913300 TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_000321.2 +1 reviewed p.R320* 1.000 239 0% 186 38.7% 1 0% - - - NULL RB1 5925 genome.wustl.edu 37 13 49039506 49039506 + Splice_Site SNP T T A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_000321.2 +1 reviewed e23+2 1.000 191 0% 154 42.2% 3 100% - - - - TDRD3 81550 genome.wustl.edu 37 13 61102778 61102778 + Silent SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_030794.2 +1 validated p.P380 0.016 157 0.6% 163 24.5% 5 40% - - - NULL RBM26 64062 genome.wustl.edu 37 13 79945232 79945232 + Missense_Mutation SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_022118.3 -1 validated p.R161Q 1.000 131 0% 218 46.8% 4 50% unknown(0) tolerated(0.19) - NULL TPP2 7174 genome.wustl.edu 37 13 103299696 103299696 + Splice_Site SNP T T C novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_003291.2 +1 reviewed e21+2 1.000 170 0% 115 10.4% 0 - - - - - CHD8 57680 genome.wustl.edu 37 14 21863147 21863147 + Missense_Mutation SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_020920.3 -1 reviewed p.R1493C 1.000 98 0% 156 46.2% 24 45.8% probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_P-loop containing nucleoside triphosphate hydrolases PRPF39 55015 genome.wustl.edu 37 14 45566145 45566145 + Missense_Mutation SNP A A G novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_017922.3 +1 validated p.Y169C 1.000 23 0% 20 45% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00386,superfamily_TPR-like MUDENG 55745 genome.wustl.edu 37 14 57755522 57755522 + Missense_Mutation SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_018229.3 +1 validated p.R465W 1.000 149 0% 135 34.8% 7 42.8% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Adap_comp_sub,superfamily_Second domain of Mu2 adaptin subunit (ap50) of ap2 adaptor TTC7B 145567 genome.wustl.edu 37 14 91113310 91113310 + Silent SNP A A G novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_001010854.1 -1 provisional p.L525 0.018 165 0% 159 44% 20 35% unknown(0) - - HMMSmart_SM00028,superfamily_TPR-like UNC79 57578 genome.wustl.edu 37 14 94087998 94087998 + Silent SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_020818.3 +1 validated p.T1296 1.000 320 0% 287 41.5% 0 - - - - NULL TTBK2 146057 genome.wustl.edu 37 15 43093314 43093314 + Silent SNP A A G novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba ENST00000263802 -1 known p.P623 0.885 113 0% 105 11.4% 0 - - - - NULL EIF3J 8669 genome.wustl.edu 37 15 44853344 44853348 + Frame_Shift_Del DEL GTGAC GTGAC - novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 GTGAC GTGAC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_003758.2 +1 validated p.M258fs 1.000:1.000:1.000:1.000 - - - - - - - - - HMMPfam_eIF3_subunit VPS13C 54832 genome.wustl.edu 37 15 62305295 62305295 + Silent SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_020821.1 -1 validated p.S256 0.998 91 0% 84 11.9% 0 - - - - NULL ISLR2 57611 genome.wustl.edu 37 15 74425259 74425259 + Missense_Mutation SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_001130136.1 +1 validated p.T55M 1.000 59 0% 45 51.1% 65 49.2% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_LRRNT,superfamily_SSF52058 SCNN1G 6340 genome.wustl.edu 37 16 23226597 23226597 + Missense_Mutation SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_001039.3 +1 reviewed p.R586H 0.000 118 0% 128 13.3% 15 13.3% benign(0.396) tolerated(0.13) neutral(0.380) NULL HS3ST4 9951 genome.wustl.edu 37 16 26147293 26147293 + Silent SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba ENST00000331351 +1 known p.A365 0.001 320 0% 294 40.5% 0 - - - - HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases VPS35 55737 genome.wustl.edu 37 16 46696186 46696186 + Missense_Mutation SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_018206.4 -1 reviewed p.S679F 1.000 94 0% 93 53.8% 109 54.1% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Vps35 NOD2 64127 genome.wustl.edu 37 16 50733825 50733825 + Missense_Mutation SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_022162.1 +1 reviewed p.C167Y 0.922 35 0% 65 38.5% 3 0% possibly_damaging(0.807) deleterious(0.04) deleterious(0.653) HMMPfam_CARD,superfamily_DEATH domain CTCF 10664 genome.wustl.edu 37 16 67654643 67654643 + Missense_Mutation SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_006565.2 +1 reviewed p.R377H 1.000 244 0% 254 48.8% 58 89.6% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_C2H2 and C2HC zinc fingers CTRB1 1504 genome.wustl.edu 37 16 75256927 75256927 + Missense_Mutation SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_001906.4 +1 validated p.A73T 0.992 37 0% 14 64.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases,PatternScan_TRYPSIN_HIS CA5A 763 genome.wustl.edu 37 16 87936054 87936055 + Frame_Shift_Del DEL CC CC - novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 CC CC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_001739.1 -1 reviewed p.L177fs 1.000:1.000 - - - - - - - - - HMMPfam_Carb_anhydrase,superfamily_Carbonic anhydrase NOS2 4843 genome.wustl.edu 37 17 26105788 26105788 + Silent SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_000625.4 -1 reviewed p.T403 0.186 217 0% 258 48.8% 0 - - - - HMMPfam_NO_synthase,superfamily_Nitric oxide (NO) synthase oxygenase domain CNTNAP1 8506 genome.wustl.edu 37 17 40839042 40839042 + Missense_Mutation SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_003632.2 +1 reviewed p.R341H 0.667 13 0% 15 66.7% 21 57.1% benign(0.038) tolerated(0.33) neutral(0.026) superfamily_ConA_like_lec_gl DHX40 79665 genome.wustl.edu 37 17 57644069 57644069 + Missense_Mutation SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_024612.4 +1 reviewed p.A65V 1.000 93 0% 99 41.4% 13 53.8% benign(0.001) deleterious(0.02) neutral(0.383) HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases SMARCD2 6603 genome.wustl.edu 37 17 61911351 61911351 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_001098426.1 -1 reviewed p.R367* 1.000 120 0% 86 50% 148 11.4% - - - HMMPfam_SWIB,superfamily_MDM2 SEC14L1 6397 genome.wustl.edu 37 17 75208079 75208079 + Silent SNP C C T rs145965497 by1000genomes TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_001039573.2 +1 reviewed p.F553 1.000 122 0% 101 39.6% 45 57.7% - - - superfamily_Supernatant protein factor (SPF) C-terminal domain SEPT9 10801 genome.wustl.edu 37 17 75398665 75398665 + Missense_Mutation SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_001113491.1 +1 reviewed p.A201T 0.000 12 0% 11 63.6% 101 45.5% benign(0) tolerated(0.75) neutral(0.002) NULL LAMA1 284217 genome.wustl.edu 37 18 6982514 6982514 + Missense_Mutation SNP G G T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_005559.2 -1 validated p.L1958I 0.041 240 0% 186 15.6% 7 42.8% possibly_damaging(0.728) tolerated(0.21) neutral(0.309) superfamily_Concanavalin A-like lectins/glucanases LOC646359 646359 genome.wustl.edu 37 18 14378685 14378685 + Silent SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba XM_929288.3 -1 model p.F26 0.002 20 0% 20 60% 0 - - - - NULL ATP8B1 5205 genome.wustl.edu 37 18 55328610 55328610 + Missense_Mutation SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_005603.4 -1 reviewed p.R835W 0.773 140 0% 125 42.4% 3 100% possibly_damaging(0.916) deleterious(0.04) deleterious(0.716) superfamily_SSF56784,superfamily_SSF81665 ZNF532 55205 genome.wustl.edu 37 18 56586709 56586709 + Missense_Mutation SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_018181.4 +1 validated p.A397V 0.011 171 0% 209 44.5% 15 26.6% benign(0.03) tolerated(0.16) neutral(0.061) NULL PLIN4 729359 genome.wustl.edu 37 19 4504922 4504922 + Missense_Mutation SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_001080400.1 -1 provisional p.R1233H 0.006 7 0.000 12 0.333 1 100% benign(0.013) tolerated(0.17) neutral(0.059) superfamily_Mannose-6-phosphate receptor binding protein 1 (Tip47) C-terminal domain ACSBG2 81616 genome.wustl.edu 37 19 6166026 6166026 + Silent SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_030924.3 +1 validated p.N246 0.246 223 0% 193 43% 0 - - - - HMMPfam_AMP-binding,superfamily_SSF56801 MUC16 94025 genome.wustl.edu 37 19 9070753 9070753 + Missense_Mutation SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_024690.2 -1 validated p.V5565I 0.000 828 0.1% 698 11.5% 4 50% unknown(0) - - NULL PRKACA 5566 genome.wustl.edu 37 19 14208688 14208688 + Missense_Mutation SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_002730.3 -1 reviewed p.R145H 1.000 22 0% 22 45.5% 207 49.7% probably_damaging(0.987) deleterious(0.01) deleterious(0.842) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase YIF1B 90522 genome.wustl.edu 37 19 38799441 38799441 + Missense_Mutation SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_001039672.2 -1 validated p.T177I 1.000 71 0% 74 37.8% 100 50% benign(0.176) tolerated(0.79) neutral(0.017) HMMPfam_YIF1 SAMD4B 55095 genome.wustl.edu 37 19 39873876 39873876 + Missense_Mutation SNP G G T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_018028.2 +1 provisional p.E667D 1.000 199 0% 166 27.1% 57 14% benign(0.026) tolerated(0.93) neutral(0.001) NULL CLPTM1 1209 genome.wustl.edu 37 19 45490603 45490603 + Silent SNP C C A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_001294.1 +1 provisional p.A320 0.998 46 0% 39 41% 88 50% - - - HMMPfam_CLPTM1 SNRNP70 6625 genome.wustl.edu 37 19 49593560 49593560 + Missense_Mutation SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_003089.4 +1 validated p.A54T 1.000 62 0% 68 45.6% 182 40.1% benign(0) tolerated(0.46) neutral(0.012) NULL RCN3 57333 genome.wustl.edu 37 19 50040444 50040444 + Missense_Mutation SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_020650.2 +1 provisional p.M200I 1.000 87 0% 96 11.5% 100 7% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_SSF47473 ZNF835 90485 genome.wustl.edu 37 19 57175767 57175767 + Missense_Mutation SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_001005850.1 -1 provisional p.R289H 0.134 7 0.000 12 0.417 2 0% benign(0.098) tolerated(0.07) neutral(0.327) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 SLC24A3 57419 genome.wustl.edu 37 20 19261704 19261704 + Missense_Mutation SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_020689.3 +1 validated p.R82W 0.001 60 0% 60 58.3% 8 87.5% possibly_damaging(0.912) deleterious(0.02) deleterious(0.746) NULL PLAGL2 5326 genome.wustl.edu 37 20 30784278 30784278 + Missense_Mutation SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_002657.3 -1 reviewed p.R490C 1.000 24 0% 44 52.3% 7 42.8% probably_damaging(0.958) deleterious(0) deleterious(0.846) NULL ACSS2 55902 genome.wustl.edu 37 20 33507380 33507383 + Splice_Site DEL GTGT GTGT - rs143168521 byCluster;by1000genomes TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 GTGT GTGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba ENST00000475459 +1 known e3+1 0.975:0.974 - - - - - - - - - - B4GALT5 9334 genome.wustl.edu 37 20 48256282 48256282 + Missense_Mutation SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_004776.3 -1 validated p.R284W 0.605 572 0% 492 41.7% 34 44.1% benign(0.015) tolerated(0.16) neutral(0.060) HMMPfam_Galactosyl_T_2,superfamily_SSF53448 CDH4 1002 genome.wustl.edu 37 20 60485572 60485572 + Missense_Mutation SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_001794.2 +1 reviewed p.A428V 1.000 18 0% 19 21.1% 0 - benign(0.138) deleterious(0) neutral(0.456) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin KRTAP19-1 337882 genome.wustl.edu 37 21 31852407 31852407 + Missense_Mutation SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_181607.1 -1 provisional p.R77H 0.000 580 0% 538 46.8% 0 - unknown(0) - - NULL ZNF295 49854 genome.wustl.edu 37 21 43411428 43411428 + Missense_Mutation SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_001098402.1 -1 validated p.R926H 1.000 76 0% 70 42.9% 13 53.8% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers RRP1B 23076 genome.wustl.edu 37 21 45096709 45096709 + Missense_Mutation SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_015056.2 +1 validated p.T237I 0.004 178 0% 146 11% 5 20% probably_damaging(0.991) tolerated(0.07) deleterious(0.763) NULL PWP2 5822 genome.wustl.edu 37 21 45535214 45535214 + Missense_Mutation SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba ENST00000456705 +1 known p.S147F 1.000 51 0% 33 54.5% 23 34.7% unknown(0) - - NULL HMOX1 3162 genome.wustl.edu 37 22 35783150 35783150 + Missense_Mutation SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_002133.1 +1 reviewed p.A206V 0.936 56 0% 59 42.4% 49 32.6% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Heme_oxygenase,superfamily_Heme oxygenase-like TBL1X 6907 genome.wustl.edu 37 X 9683001 9683001 + Silent SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_001139466.1 +1 reviewed p.N555 0.994 29 0% 25 36% 15 100% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like TLR7 51284 genome.wustl.edu 37 X 12906683 12906683 + Missense_Mutation SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_016562.3 +1 reviewed p.P1019L 1.000 473 0.2% 530 44.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00255,superfamily_Toll/Interleukin receptor TIR domain HDX 139324 genome.wustl.edu 37 X 83723496 83723496 + Missense_Mutation SNP T T A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_144657.4 -1 validated p.N412I 1.000 59 0% 55 23.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ENSG00000223499 0 genome.wustl.edu 37 X 118207887 118207887 + Silent SNP A A G novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba ENST00000419982 +1 known p.E200 0.000 131 0% 125 49.6% 0 - - - - NULL BCORL1 63035 genome.wustl.edu 37 X 129150016 129150016 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_021946.3 +1 reviewed p.R1090* 0.732 35 0% 54 11.1% 15 0% - - - NULL SPANXN1 494118 genome.wustl.edu 37 X 144337285 144337285 + Missense_Mutation SNP G G T novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_001009614.2 +1 reviewed p.R57M 0.000 957 0.1% 1071 45.8% 0 - possibly_damaging(0.805) deleterious(0) deleterious(0.748) HMMPfam_SPAN-X FLNA 2316 genome.wustl.edu 37 X 153580009 153580009 + Silent SNP G G A novel TCGA-AX-A05Y-01A-11W-A027-09 TCGA-AX-A05Y-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ad39cba-d236-44df-99a9-3dd4ff04b270 0fb9213c-86b7-40a7-b28c-e407d0ecc0ba NM_001110556.1 -1 reviewed p.F2321 1.000 8 0.000 11 0.364 234 80.3% - - - HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin