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 PLEKHG5 57449 genome.wustl.edu 37 1 6529183 6529185 + In_Frame_Del DEL TCC TCC - rs113541584 byCluster;by1000genomes TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_198681.2 -1 reviewed p.E800in_frame_del 0.152:0.271:0.391 - - - - - - - - - NULL C1QB 713 genome.wustl.edu 37 1 22987360 22987360 + Silent SNP G G A novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_000491.3 +1 reviewed p.G81 0.024 27 0% 29 62.1% - - - - - HMMPfam_Collagen ADPRHL2 54936 genome.wustl.edu 37 1 36557393 36557393 + Silent SNP C C T novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_017825.2 +1 reviewed p.S161 0.993 47 0% 63 15.9% - - - - - HMMPfam_ADP_ribosyl_GH,superfamily_Ribosyl_crysJ1 ZMPSTE24 10269 genome.wustl.edu 37 1 40737662 40737662 + Missense_Mutation SNP G G T novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_005857.3 +1 reviewed p.A242S 1.000 138 0% 194 49% - - benign(0.31) deleterious(0.03) neutral(0.461) HMMPfam_Peptidase_M48 TIE1 7075 genome.wustl.edu 37 1 43779579 43779579 + Silent SNP G G T novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_005424.2 +1 provisional p.L783 0.961 23 0% 51 43.1% - - - - - NULL CD1C 911 genome.wustl.edu 37 1 158261021 158261021 + Silent SNP G G A novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_001765.2 +1 reviewed p.L53 0.037 73 0% 117 12% - - - - - HMMPfam_MHC_I,superfamily_MHC_I/II-like_Ag-recog SPTA1 6708 genome.wustl.edu 37 1 158614070 158614070 + Silent SNP G G A rs189877287 by1000genomes TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_003126.2 -1 reviewed p.D1437 0.945 131 0% 140 32.1% - - - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat OR10J3 441911 genome.wustl.edu 37 1 159283976 159283976 + Missense_Mutation SNP A A C novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_001004467.1 -1 provisional p.I158M 0.007 62 0% 104 14.4% - - benign(0.046) tolerated(0.43) neutral(0.016) HMMPfam_7tm_1,superfamily_SSF81321 UFC1 51506 genome.wustl.edu 37 1 161128232 161128232 + Missense_Mutation SNP G G C novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_016406.3 +1 validated p.D152H 1.000 85 0% 120 38.3% - - probably_damaging(0.974) tolerated(0.58) neutral(0.421) HMMPfam_UFC1 NAV1 89796 genome.wustl.edu 37 1 201762944 201762944 + Missense_Mutation SNP C C G novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_020443.4 +1 reviewed p.Q1116E 1.000 111 0% 148 31.8% - - benign(0.354) deleterious(0.01) deleterious(0.518) NULL RYR2 6262 genome.wustl.edu 37 1 237666725 237666725 + Missense_Mutation SNP A A T novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_001035.2 +1 reviewed p.T845S 0.002 68 0% 67 17.9% - - benign(0) - - NULL OR2M7 391196 genome.wustl.edu 37 1 248487776 248487776 + Missense_Mutation SNP A A G novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_001004691.1 -1 provisional p.L32P 0.032 521 0% 413 11.4% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) superfamily_SSF81321 OR2T4 127074 genome.wustl.edu 37 1 248525914 248525914 + Missense_Mutation SNP A A C novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_001004696.1 +1 provisional p.Q344H 0.006 90 0% 118 10.2% - - possibly_damaging(0.746) deleterious(0) deleterious(0.719) NULL NT5C1B 93034 genome.wustl.edu 37 2 18757609 18757609 + Silent SNP A A G novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 ENST00000418427 -1 known p.W105R 0.060 69 0% 57 10.5% - - - - - HMMPfam_5-nucleotidase APOB 338 genome.wustl.edu 37 2 21234158 21234158 + Missense_Mutation SNP C C A novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_000384.2 -1 reviewed p.G1861V 0.119 133 0% 142 16.2% - - probably_damaging(0.979) - - NULL EML6 400954 genome.wustl.edu 37 2 55098674 55098674 + Missense_Mutation SNP A A T novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_001039753.2 +1 validated p.Q759L 1.000 205 0% 188 13.3% - - possibly_damaging(0.451) tolerated(0.47) neutral(0.159) superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase ADD2 119 genome.wustl.edu 37 2 70890681 70890681 + Missense_Mutation SNP G G A novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_001617.3 -1 reviewed p.S686L 1.000 134 0% 143 53.8% - - probably_damaging(0.963) tolerated(0.13) deleterious(0.658) NULL COX5B 1329 genome.wustl.edu 37 2 98263847 98263847 + Missense_Mutation SNP C C T novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_001862.2 +1 reviewed p.T73I 1.000 155 0% 179 12.8% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_COX5B,superfamily_Rubredoxin-like MARCO 8685 genome.wustl.edu 37 2 119727791 119727791 + Missense_Mutation SNP C C A novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_006770.3 +1 reviewed p.H101N 0.000 40 0% 46 43.5% - - benign(0.053) tolerated(0.75) neutral(0.005) NULL MGAT5 4249 genome.wustl.edu 37 2 135012073 135012073 + Silent SNP C C T novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_002410.3 +1 validated p.T33 1.000 141 0% 135 28.1% - - - - - NULL TTN 7273 genome.wustl.edu 37 2 179501285 179501285 + Silent SNP A A G novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 ENST00000356127 -1 known p.G11155 0.119 137 0.7% 163 49.1% - - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179669338 179669338 + Missense_Mutation SNP G G T novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_133379.3 -1 reviewed p.P11Q 1.000 85 0% 97 55.7% - - possibly_damaging(0.526) deleterious(0.02) deleterious(0.560) HMMPfam_I-set,superfamily_SSF48726 WDR75 84128 genome.wustl.edu 37 2 190332311 190332311 + Missense_Mutation SNP C C T novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_032168.1 +1 provisional p.T522I 1.000 147 0% 267 37.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_WD40,superfamily_WD40_like MFSD6 54842 genome.wustl.edu 37 2 191362210 191362210 + Missense_Mutation SNP T T C novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_017694.3 +1 validated p.V646A 1.000 154 0% 260 30.8% - - possibly_damaging(0.942) deleterious(0.02) deleterious(0.770) NULL ACSL3 2181 genome.wustl.edu 37 2 223773753 223773753 + Missense_Mutation SNP T T C novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_004457.3 +1 reviewed p.L88S 0.972 133 0% 190 30.5% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_SSF56801 ZFYVE20 64145 genome.wustl.edu 37 3 15131936 15131936 + Missense_Mutation SNP C C G novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_022340.2 -1 validated p.D87H 1.000 158 0% 167 16.2% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL DAZL 1618 genome.wustl.edu 37 3 16639595 16639595 + Missense_Mutation SNP C C G novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_001351.2 -1 reviewed p.G81R 1.000 137 0% 114 18.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 TRIM71 131405 genome.wustl.edu 37 3 32915422 32915422 + Missense_Mutation SNP G G A novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_001039111.1 +1 provisional p.R322Q 0.999 44 0% 48 31.2% - - possibly_damaging(0.934) tolerated(0.1) deleterious(0.666) NULL TRAK1 22906 genome.wustl.edu 37 3 42251736 42251736 + Frame_Shift_Del DEL G G - novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_014965.3 +1 validated p.R683fs 1.000 - - - - - - - - - NULL MAP4 4134 genome.wustl.edu 37 3 47908735 47908735 + Splice_Site SNP C C T novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_002375.4 -1 reviewed e14+1 1.000 121 0% 97 12.4% - - - - - - FAM19A1 407738 genome.wustl.edu 37 3 68055862 68055862 + Silent SNP C C T novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_213609.2 +1 reviewed p.F31 1.000 199 0% 97 22.7% - - - - - NULL CHCHD6 84303 genome.wustl.edu 37 3 126571530 126571530 + Missense_Mutation SNP G G C novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_032343.1 +1 provisional p.R151P 0.224 107 0% 90 22.2% - - probably_damaging(0.996) tolerated(0.13) deleterious(0.714) HMMPfam_DUF737 SHOX2 6474 genome.wustl.edu 37 3 157820570 157820570 + Missense_Mutation SNP T T G novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_006884.3 -1 reviewed p.Q151P 1.000 149 0% 153 31.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like TPRG1 285386 genome.wustl.edu 37 3 188925281 188925281 + Silent SNP G G A novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_198485.3 +1 validated p.P36 0.001 218 0% 274 21.2% - - - - - NULL NKX6-1 4825 genome.wustl.edu 37 4 85416881 85416881 + Missense_Mutation SNP C C G novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_006168.2 -1 validated p.G263R 1.000 128 0% 110 21.8% - - unknown(0) deleterious(0.04) - HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like SLC10A6 345274 genome.wustl.edu 37 4 87770134 87770134 + Silent SNP G G C novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_197965.2 -1 validated p.L45 0.995 31 0% 31 12.9% - - - - - HMMPfam_SBF FHDC1 85462 genome.wustl.edu 37 4 153881964 153881964 + Missense_Mutation SNP C C T novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_033393.2 +1 validated p.T273I 0.006 150 0% 114 41.2% - - benign(0.06) deleterious(0.05) neutral(0.349) HMMSmart_FH2,HMMPfam_FH2,superfamily_FH2_actin_bd SLC1A3 6507 genome.wustl.edu 37 5 36608665 36608665 + Missense_Mutation SNP G G T novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_004172.4 +1 reviewed p.R47L 1.000 105 0% 91 16.5% - - probably_damaging(0.986) deleterious(0.01) deleterious(0.840) NULL NLN 57486 genome.wustl.edu 37 5 65088393 65088393 + Missense_Mutation SNP G G C novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_020726.3 +1 provisional p.V480L 0.000 105 0% 79 15.2% - - benign(0) deleterious(0.02) neutral(0.383) HMMPfam_Peptidase_M3,superfamily_SSF55486 PIK3R1 5295 genome.wustl.edu 37 5 67589599 67589613 + In_Frame_Del DEL TCAGTTTCAAGAAAA TCAGTTTCAAGAAAA - novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 TCAGTTTCAAGAAAA TCAGTTTCAAGAAAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_181523.1 +1 reviewed p.QFQEK455in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 - - - - - - - - - NULL RASGRF2 5924 genome.wustl.edu 37 5 80513215 80513228 + Frame_Shift_Del DEL ACAGACCTGGCATT ACAGACCTGGCATT - novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 ACAGACCTGGCATT ACAGACCTGGCATT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_006909.1 +1 validated p.T1159fs 1.000:1.000:0.884:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.905:1.000:1.000 - - - - - - - - - HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF,PatternScan_RASGEF NREP 9315 genome.wustl.edu 37 5 111311045 111311045 + Missense_Mutation SNP T T C novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_001142475.1 -1 validated p.R21G 0.000 201 0% 178 12.9% - - possibly_damaging(0.626) tolerated(0.46) neutral(0.230) NULL KCNN2 3781 genome.wustl.edu 37 5 113822771 113822771 + Missense_Mutation SNP C C T novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_021614.2 +1 reviewed p.L427F 1.000 120 0% 111 24.3% - - probably_damaging(0.976) deleterious(0) deleterious(0.863) HMMPfam_CaMBD,superfamily_CaM_bd,superfamily_SSF81324 RREB1 6239 genome.wustl.edu 37 6 7248872 7248872 + Missense_Mutation SNP G G A novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_001003699.3 +1 reviewed p.E1634K 0.997 50 0% 59 22% - - benign(0.093) deleterious(0.02) neutral(0.390) NULL GNL1 2794 genome.wustl.edu 37 6 30514092 30514092 + Splice_Site SNP T T C novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_005275.3 -1 validated e12-2 1.000 47 0% 46 30.4% - - - - - - CPNE5 57699 genome.wustl.edu 37 6 36759825 36759825 + Missense_Mutation SNP C C G novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_020939.1 -1 reviewed p.E171D 1.000 94 0% 93 36.6% - - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMSmart_C2,superfamily_C2_CaLB GPR110 266977 genome.wustl.edu 37 6 46979901 46979901 + Missense_Mutation SNP C C T novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_153840.2 -1 validated p.E320K 0.041 138 0% 166 42.8% - - probably_damaging(0.996) tolerated(0.62) neutral(0.466) NULL BAI3 577 genome.wustl.edu 37 6 69665940 69665940 + Missense_Mutation SNP G G A novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_001704.2 +1 reviewed p.S407N 1.000 128 0% 139 10.8% - - possibly_damaging(0.694) tolerated(0.17) neutral(0.308) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat NCOA7 135112 genome.wustl.edu 37 6 126136541 126136541 + Missense_Mutation SNP A A T novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_181782.3 +1 validated p.Y14F 1.000 136 0% 167 24% - - possibly_damaging(0.85) deleterious(0) deleterious(0.772) NULL SHPRH 257218 genome.wustl.edu 37 6 146256575 146256575 + Missense_Mutation SNP G G T novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_001042683.2 -1 validated p.L858I 1.000 63 0% 58 13.8% - - probably_damaging(0.978) tolerated(0.06) deleterious(0.743) HMMPfam_SNF2_N,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases GRM1 2911 genome.wustl.edu 37 6 146350754 146350754 + Missense_Mutation SNP C C G rs12190109 byCluster TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_000838.3 +1 reviewed p.S34C 0.846 61 0% 68 11.8% - - possibly_damaging(0.942) deleterious(0.04) deleterious(0.736) NULL PLEKHG1 57480 genome.wustl.edu 37 6 151151764 151151764 + Missense_Mutation SNP C C T novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_001029884.1 +1 provisional p.S506F 0.726 59 0% 61 24.6% - - benign(0.135) deleterious(0.05) neutral(0.357) NULL PKD1L1 168507 genome.wustl.edu 37 7 47921619 47921619 + Silent SNP C C G novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_138295.2 -1 reviewed p.G1110 0.999 38 0% 71 21.1% - - - - - NULL ZNF273 10793 genome.wustl.edu 37 7 64378580 64378580 + Missense_Mutation SNP G G A novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_021148.2 +1 reviewed p.A79T 0.672 297 0% 217 30% - - benign(0.017) tolerated(0.29) neutral(0.030) HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ADAM22 53616 genome.wustl.edu 37 7 87810896 87810896 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_021723.2 +1 reviewed p.R829* 0.888 102 0% 54 64.8% - - - - - NULL SAMD9L 219285 genome.wustl.edu 37 7 92760925 92760925 + Missense_Mutation SNP A A G novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_152703.2 -1 validated p.S1454P 0.043 67 0% 48 45.8% - - probably_damaging(0.989) tolerated(0.08) deleterious(0.740) NULL COPS6 10980 genome.wustl.edu 37 7 99689085 99689085 + Missense_Mutation SNP C C G novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_006833.4 +1 reviewed p.A262G 0.995 107 0% 118 41.5% - - benign(0.002) tolerated(0.1) neutral(0.286) NULL STAG3 10734 genome.wustl.edu 37 7 99797903 99797903 + Silent SNP G G T novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_012447.2 +1 validated p.V574 0.876 87 0% 86 31.4% - - - - - superfamily_ARM repeat LRRC61 65999 genome.wustl.edu 37 7 150034209 150034209 + Missense_Mutation SNP C C G novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_001142928.1 +1 validated p.L87V 0.962 14 0.000 8 0.875 - - benign(0.002) tolerated(0.11) neutral(0.272) HMMPfam_LRR_1,superfamily_SSF52058 RB1CC1 9821 genome.wustl.edu 37 8 53569733 53569733 + Missense_Mutation SNP C C T novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_014781.4 -1 reviewed p.E886K 1.000 35 0% 44 47.7% - - benign(0.013) deleterious(0.04) neutral(0.349) NULL SLC7A13 157724 genome.wustl.edu 37 8 87235330 87235330 + Missense_Mutation SNP C C G novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_138817.2 -1 validated p.E230Q 0.731 88 0% 74 18.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AA_permease GNE 10020 genome.wustl.edu 37 9 36249285 36249285 + Missense_Mutation SNP G G A novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_001128227.1 -1 reviewed p.S54F 1.000 127 0% 178 12.4% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_SSF53756 BAAT 570 genome.wustl.edu 37 9 104124839 104124839 + Silent SNP C C T novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_001127610.1 -1 reviewed p.T376 0.000 170 0% 109 77.1% - - - - - HMMPfam_BAAT_C,superfamily_SSF53474 UCK1 83549 genome.wustl.edu 37 9 134406046 134406046 + Missense_Mutation SNP A A G novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 ENST00000372211 -1 known p.L37P 0.000 39 0% 25 28% - - benign(0.23) tolerated(0.05) neutral(0.368) NULL MRC1 4360 genome.wustl.edu 37 10 17949670 17949670 + Missense_Mutation SNP T T C novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_001009567.1 +1 reviewed p.I1345T 0.292 319 0% 336 28.6% - - benign(0) tolerated(0.61) neutral(0.004) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like,PatternScan_C_TYPE_LECTIN_1 PRKG1 5592 genome.wustl.edu 37 10 53822348 53822348 + Missense_Mutation SNP A A T novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_006258.2 +1 validated p.T298S 1.000 87 0% 67 25.4% - - benign(0) tolerated(0.29) neutral(0.029) HMMPfam_cNMP_binding,HMMSmart_SM00100,superfamily_cAMP-binding domain-like GRID1 2894 genome.wustl.edu 37 10 87614350 87614350 + Missense_Mutation SNP C C G novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_017551.2 -1 reviewed p.G379A 1.000 97 0% 71 12.7% - - benign(0.301) deleterious(0) deleterious(0.537) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I MRGPRX4 117196 genome.wustl.edu 37 11 18194947 18194947 + Silent SNP G G T novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_054032.3 +1 validated p.V48 0.034 100 0% 69 11.6% - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like AMBRA1 55626 genome.wustl.edu 37 11 46564363 46564373 + Frame_Shift_Del DEL GGCTAGACAGA GGCTAGACAGA - novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 GGCTAGACAGA GGCTAGACAGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_017749.2 -1 validated p.L309fs 1.000:1.000:1.000:0.992:0.975:1.000:0.996:0.988:0.979:0.772:0.765 - - - - - - - - - NULL EHD1 10938 genome.wustl.edu 37 11 64645741 64645741 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_006795.2 -1 reviewed p.Q66* 1.000 51 0% 47 27.7% - - - - - HMMPfam_Dynamin_N,superfamily_P-loop containing nucleoside triphosphate hydrolases SIDT2 51092 genome.wustl.edu 37 11 117066728 117066728 + Silent SNP G G A novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_001040455.1 +1 validated p.L815 1.000 89 0% 133 27.1% - - - - - NULL BACE1 23621 genome.wustl.edu 37 11 117161767 117161767 + Splice_Site SNP T T A novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_012104.3 -1 reviewed e7-2 1.000 55 0% 67 14.9% - - - - - - SLC37A2 219855 genome.wustl.edu 37 11 124953754 124953754 + Silent SNP C C T novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_198277.2 +1 validated p.F340 0.827 110 0% 94 46.8% - - - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter GLB1L2 89944 genome.wustl.edu 37 11 134240186 134240186 + Splice_Site SNP G G A novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_138342.3 +1 validated e12-1 0.546 140 0% 121 37.2% - - - - - - NCKAP1L 3071 genome.wustl.edu 37 12 54914482 54914482 + Missense_Mutation SNP C C T novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_005337.4 +1 reviewed p.H544Y 1.000 186 0% 211 32.2% - - benign(0) tolerated(1) - HMMPfam_Nckap1 KIF5A 3798 genome.wustl.edu 37 12 57961359 57961359 + Silent SNP C C T novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_004984.2 +1 reviewed p.L224 0.998 99 0% 120 16.7% - - - - - HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases OAS2 4939 genome.wustl.edu 37 12 113440810 113440810 + Missense_Mutation SNP G G A novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_016817.2 +1 reviewed p.C361Y 0.001 141 0% 129 38.8% - - benign(0) tolerated(0.84) neutral(0.001) superfamily_Nucleotidyltransferase TESC 54997 genome.wustl.edu 37 12 117484389 117484389 + Missense_Mutation SNP G G A novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_017899.3 -1 validated p.A218V 0.998 6 0.000 17 0.824 - - benign(0.159) tolerated(0.13) neutral(0.267) superfamily_EF-hand KSR2 283455 genome.wustl.edu 37 12 118293328 118293328 + Missense_Mutation SNP T T G novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_173598.4 -1 validated p.Q97P 1.000 75 0% 66 10.6% - - benign(0.053) deleterious(0.01) neutral(0.409) NULL CIT 11113 genome.wustl.edu 37 12 120148139 120148139 + Missense_Mutation SNP T T C novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_007174.1 -1 validated p.N1621S 1.000 71 0% 69 78.3% - - possibly_damaging(0.932) tolerated(0.33) neutral(0.403) HMMPfam_CNH,HMMSmart_SM00036 DOCK9 23348 genome.wustl.edu 37 13 99462436 99462436 + Missense_Mutation SNP C C T novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 ENST00000357329 -1 known p.R1748Q 1.000 134 0% 134 14.9% - - probably_damaging(0.999) tolerated(0.42) deleterious(0.504) NULL OR4N2 390429 genome.wustl.edu 37 14 20296069 20296069 + Silent SNP C C T novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_001004723.1 +1 provisional p.V154 0.000 278 0% 103 34% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 DDHD1 80821 genome.wustl.edu 37 14 53619480 53619481 + In_Frame_Ins INS - - GCCGCC novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_030637.2 -1 validated p.112in_frame_insGG 0.234:0.997 - - - - - - - - - NULL PLEKHG3 26030 genome.wustl.edu 37 14 65210121 65210121 + Silent SNP C C T novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_015549.1 +1 validated p.P1064 0.159 13 0% 17 70.6% - - - - - NULL TUBGCP5 114791 genome.wustl.edu 37 15 22867014 22867014 + Missense_Mutation SNP G G T novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_001102610.1 +1 validated p.G844V 1.000 191 0% 262 12.6% - - benign(0.174) tolerated(0.18) neutral(0.072) HMMPfam_Spc97_Spc98 NUSAP1 51203 genome.wustl.edu 37 15 41669443 41669443 + Missense_Mutation SNP A A T novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_016359.3 +1 validated p.Q391H 0.027 59 0% 66 22.7% - - possibly_damaging(0.509) deleterious(0.03) deleterious(0.535) NULL WDR72 256764 genome.wustl.edu 37 15 53992110 53992110 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_182758.2 -1 validated p.C534* 1.000 118 0% 65 38.5% - - - - - HMMSmart_SM00320,superfamily_WD40 repeat-like PDE8A 5151 genome.wustl.edu 37 15 85652331 85652331 + Missense_Mutation SNP G G A novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_002605.2 +1 validated p.V362I 1.000 90 0% 82 22% - - benign(0.155) deleterious(0.01) neutral(0.419) NULL THOC6 79228 genome.wustl.edu 37 16 3077048 3077048 + Missense_Mutation SNP T T C novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_024339.3 +1 validated p.C225R 1.000 211 0% 215 27% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_WD40 repeat-like CNOT1 23019 genome.wustl.edu 37 16 58577621 58577621 + Missense_Mutation SNP G G A novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_016284.3 -1 validated p.H1442Y 1.000 93 0% 97 15.5% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL KCNG4 93107 genome.wustl.edu 37 16 84270874 84270874 + Missense_Mutation SNP G G C novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_172347.1 -1 reviewed p.P73R 1.000 11 0% 14 35.7% - - probably_damaging(1) tolerated(0.55) deleterious(0.507) HMMPfam_K_tetra,superfamily_POZ domain GP1BA 2811 genome.wustl.edu 37 17 4837281 4837281 + Missense_Mutation SNP G G T novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_000173.5 +1 reviewed p.S448I 0.000 63 0% 77 28.6% - - unknown(0) deleterious(0) - NULL KIAA0753 9851 genome.wustl.edu 37 17 6503712 6503712 + Silent SNP C C T novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_014804.2 -1 validated p.L692 0.982 97 0% 98 19.4% - - - - - NULL GPS2 2874 genome.wustl.edu 37 17 7216551 7216551 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_004489.4 -1 reviewed p.Q262* 1.000 83 0% 70 72.9% - - - - - NULL TP53 7157 genome.wustl.edu 37 17 7577536 7577536 + Missense_Mutation SNP T T A rs67185453 TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_000546.4 -1 reviewed p.R249W 0.998 59 0% 44 77.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53 RCVRN 5957 genome.wustl.edu 37 17 9804349 9804349 + Missense_Mutation SNP C C G novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_002903.2 -1 reviewed p.K150N 0.990 102 0% 111 11.7% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_EF-hand RAI1 10743 genome.wustl.edu 37 17 17700499 17700499 + Missense_Mutation SNP A A G novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_030665.3 +1 reviewed p.M1413V 0.000 23 0% 20 55% - - benign(0) tolerated(0.94) - NULL NEK8 284086 genome.wustl.edu 37 17 27065214 27065214 + Silent SNP G G C novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_178170.2 +1 reviewed p.V391 1.000 43 0% 36 80.6% - - unknown(0) - - superfamily_RCC1/BLIP-II ATAD5 79915 genome.wustl.edu 37 17 29162452 29162452 + Silent SNP T T G novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_024857.3 +1 provisional p.G451 0.001 30 0% 44 72.7% - - - - - NULL PHB 5245 genome.wustl.edu 37 17 47486458 47486458 + Missense_Mutation SNP G G C novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_002634.2 -1 reviewed p.D152E 0.848 27 0% 50 44% - - benign(0.002) tolerated(0.96) - HMMPfam_Band_7,HMMSmart_SM00244 TMC8 147138 genome.wustl.edu 37 17 76129995 76129995 + Missense_Mutation SNP G G A novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_152468.4 +1 reviewed p.A244T 0.001 22 0% 26 53.8% - - benign(0.001) tolerated(0.39) neutral(0.016) NULL ANKRD30B 374860 genome.wustl.edu 37 18 14851767 14851767 + Missense_Mutation SNP C C G novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_001145029.1 +1 validated p.T1156R 0.998 41 0% 28 21.4% - - probably_damaging(0.978) deleterious(0) deleterious(0.865) NULL ATP8B1 5205 genome.wustl.edu 37 18 55398888 55398899 + In_Frame_Del DEL GCTTCCCTGTTG GCTTCCCTGTTG - novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 GCTTCCCTGTTG GCTTCCCTGTTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_005603.4 -1 reviewed p.NREA48in_frame_del 0.386:0.698:0.789:0.957:0.995:0.996:0.995:1.000:1.000:1.000:1.000:0.966 - - - - - - - - - superfamily_SSF81665 CCBE1 147372 genome.wustl.edu 37 18 57134033 57134033 + Missense_Mutation SNP C C A novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_133459.3 -1 reviewed p.G164V 1.000 67 0% 47 23.4% - - probably_damaging(1) - - HMMSmart_SM00179,HMMSmart_SM00181,PatternScan_EGF_2,HMMPfam_EGF_CA,superfamily_EGF/Laminin BSG 682 genome.wustl.edu 37 19 581444 581444 + Missense_Mutation SNP G G A novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_001728.2 +1 reviewed p.G308S 0.995 15 0% 21 28.6% - - possibly_damaging(0.753) tolerated(0.12) deleterious(0.537) HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Immunoglobulin PRAM1 84106 genome.wustl.edu 37 19 8564070 8564070 + Missense_Mutation SNP C C G novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_032152.3 -1 reviewed p.E208Q 0.000 33 0% 37 13.5% - - benign(0.013) tolerated(0.39) neutral(0.017) NULL CYP4F22 126410 genome.wustl.edu 37 19 15661569 15661569 + Splice_Site SNP T T A novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_173483.3 +1 reviewed e11+2 1.000 79 0% 102 26.5% - - - - - - SLC5A5 6528 genome.wustl.edu 37 19 17991703 17991703 + Silent SNP C C T novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_000453.2 +1 reviewed p.F333 0.006 85 0% 115 29.6% - - - - - NULL FKBP8 23770 genome.wustl.edu 37 19 18648453 18648453 + Missense_Mutation SNP C C A novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_012181.3 -1 reviewed p.E301D 0.995 16 0% 27 37% - - possibly_damaging(0.925) tolerated(0.15) deleterious(0.615) HMMPfam_TPR_1,superfamily_SSF48452 ZNF708 7562 genome.wustl.edu 37 19 21477058 21477058 + Missense_Mutation SNP G G A novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_021269.2 -1 validated p.S237L 0.001 38 0% 28 42.9% - - possibly_damaging(0.485) deleterious(0.04) deleterious(0.510) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers MAP4K1 11184 genome.wustl.edu 37 19 39108072 39108072 + Missense_Mutation SNP G G C novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_007181.4 -1 validated p.S57C 1.000 99 0% 136 12.5% - - possibly_damaging(0.563) deleterious(0) deleterious(0.637) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase TIMM50 92609 genome.wustl.edu 37 19 39979194 39979194 + Missense_Mutation SNP G G T novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_001001563.1 +1 validated p.G393V 0.020 42 0% 40 12.5% - - benign(0.154) tolerated(0.07) neutral(0.333) HMMPfam_NIF,superfamily_SSF56784 ARHGAP35 2909 genome.wustl.edu 37 19 47423373 47423373 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_004491.4 +1 reviewed p.Q481* 1.000 33 0% 41 29.3% - - - - - HMMSmart_SM00441 LENG9 94059 genome.wustl.edu 37 19 54973989 54973991 + In_Frame_Del DEL CCT CCT - rs140013148 byCluster;by1000genomes TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 CCT CCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_198988.1 -1 validated p.E262in_frame_del 0.000:0.000:0.000 - - - - - - - - - NULL KIR3DX1 90011 genome.wustl.edu 37 19 55048376 55048376 + Missense_Mutation SNP C C T novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 ENST00000335056 +1 known p.P315S 0.001 39 0% 57 26.3% - - benign(0.169) deleterious(0) neutral(0.460) HMMSmart_SM00409 NKX2-2 4821 genome.wustl.edu 37 20 21494276 21494276 + Missense_Mutation SNP G G A novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_002509.2 -1 reviewed p.S11L 1.000 42 0% 47 25.5% - - benign(0.429) deleterious(0) deleterious(0.584) NULL PAX1 5075 genome.wustl.edu 37 20 21695212 21695212 + Missense_Mutation SNP C C T novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_006192.3 +1 validated p.P459L 0.000 7 0.000 14 0.571 - - possibly_damaging(0.605) deleterious(0) deleterious(0.654) NULL COMMD7 149951 genome.wustl.edu 37 20 31315728 31315728 + Missense_Mutation SNP G G C novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_053041.2 -1 validated p.I71M 0.460 113 0% 179 57% - - probably_damaging(0.995) deleterious(0.02) deleterious(0.841) HMMPfam_HCaRG TRPC4AP 26133 genome.wustl.edu 37 20 33603857 33603857 + Missense_Mutation SNP G G C novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_015638.2 -1 validated p.S435C 1.000 70 0% 109 27.5% - - probably_damaging(0.99) tolerated(0.06) deleterious(0.764) NULL C20orf24 55969 genome.wustl.edu 37 20 35240822 35240823 + RNA INS - - ATC novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NR_026562.1 +1 validated NULL 0.000:0.006 - - - - - - - - - - ATF4 468 genome.wustl.edu 37 22 39917859 39917859 + Missense_Mutation SNP A A G novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_001675.2 +1 reviewed p.D103G 0.955 137 0% 140 60.7% - - probably_damaging(0.992) tolerated(0.2) deleterious(0.496) NULL MED14 9282 genome.wustl.edu 37 X 40522214 40522214 + Missense_Mutation SNP A A C novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_004229.3 -1 reviewed p.M1216R 1.000 156 0% 110 33.6% - - possibly_damaging(0.923) deleterious(0) deleterious(0.817) NULL LOC653354 653354 genome.wustl.edu 37 X 100852580 100852580 + Missense_Mutation SNP C C T novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 XM_001717888.2 +1 model p.A45V 0.000 84 0% 105 27.6% - - - - - HMMPfam_DUF634 ZFP92 139735 genome.wustl.edu 37 X 152686158 152686158 + Missense_Mutation SNP T T A novel TCGA-B5-A0JN-01A-11D-A10B-09 TCGA-B5-A0JN-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dd14f0e-8601-4aa1-864c-3c49e768cdd1 fee036ee-2e61-44bc-aff0-6d82beafcd59 NM_001136273.1 +1 validated p.L108H 0.000 34 0% 36 16.7% - - - - - NULL