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 CDK11B 984 genome.wustl.edu 37 1 1576469 1576471 + In_Frame_Del DEL CTT CTT - novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_033487.1 -1 reviewed p.E82in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL NADK 65220 genome.wustl.edu 37 1 1684396 1684396 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_023018.3 -1 validated p.R430W 0.994 85 0% 110 46.4% 62 45.1% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_NAD kinase (Pfam 01513) C1orf222 339457 genome.wustl.edu 37 1 1854876 1854876 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000493964 -1 known p.G767 0.734 39 0% 76 43.4% 0 - - - - NULL DFFB 1677 genome.wustl.edu 37 1 3775365 3775365 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_004402.2 +1 reviewed p.N66 0.686 63 0% 97 34% 55 45.4% - - - HMMPfam_CIDE-N,HMMSmart_SM00266,superfamily_CAD PB1 domains C1orf174 339448 genome.wustl.edu 37 1 3807205 3807205 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_207356.2 -1 validated p.S182 0.001 255 0% 331 44.4% 89 46% - - - NULL ICMT 23463 genome.wustl.edu 37 1 6285299 6285299 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_012405.3 -1 reviewed p.C232 0.650 53 0% 54 48.1% 80 50% - - - HMMPfam_ICMT TNFRSF25 8718 genome.wustl.edu 37 1 6524629 6524629 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_148965.1 -1 reviewed p.R149H 0.351 198 0% 220 43.6% 0 - probably_damaging(0.98) tolerated(0.1) deleterious(0.710) NULL CAMTA1 23261 genome.wustl.edu 37 1 7725109 7725109 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_015215.1 +1 validated p.S834 1.000 20 0% 22 40.9% 0 - - - - NULL KIF1B 23095 genome.wustl.edu 37 1 10425479 10425479 + Missense_Mutation SNP C C A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_015074.3 +1 reviewed p.R1463S 0.998 167 0% 273 47.6% 6 50% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL TNFRSF8 943 genome.wustl.edu 37 1 12157168 12157168 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000514649 +1 known p.R25Q 0.000 163 0% 188 50% 0 - unknown(0) - - NULL VPS13D 55187 genome.wustl.edu 37 1 12378381 12378381 + Missense_Mutation SNP G G T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_015378.2 +1 reviewed p.K2467N 1.000 273 0% 307 42.7% 5 40% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL PRAMEF7 441871 genome.wustl.edu 37 1 12979699 12979699 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001012277.1 +1 provisional p.V297 0.000 256 0% 300 31% 0 - - - - superfamily_RNI-like KAZ 23254 genome.wustl.edu 37 1 15287252 15287252 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_201628.2 +1 validated p.A100V 0.960 51 0% 63 46% 3 33.3% benign(0.013) tolerated(0.13) neutral(0.253) NULL SLC25A34 284723 genome.wustl.edu 37 1 16065123 16065123 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_207348.1 +1 provisional p.A211V 0.969 96 0% 136 41.2% 0 - benign(0) tolerated(0.89) - superfamily_Mitoch_carrier,HMMPfam_Mito_carr ATP13A2 23400 genome.wustl.edu 37 1 17330837 17330837 + Missense_Mutation SNP A A T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_022089.2 -1 reviewed p.Y183N 0.384 112 0% 160 46.3% 64 42.1% benign(0.01) tolerated(0.56) neutral(0.007) superfamily_Calcium ATPase transmembrane domain M ALDH4A1 8659 genome.wustl.edu 37 1 19216559 19216559 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_003748.3 -1 reviewed p.E35K 0.999 72 0% 88 48.9% 10 40% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_Aldehyde_DH/Histidinol_DH HSPG2 3339 genome.wustl.edu 37 1 22174385 22174385 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000453796 -1 known p.P23S 0.181 87 0% 120 19.2% 1 0% benign(0.014) tolerated(0.15) neutral(0.241) NULL LUZP1 7798 genome.wustl.edu 37 1 23420203 23420203 + Silent SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001142546.1 -1 reviewed p.E184 0.646 77 0% 90 37.8% 2 50% - - - NULL GALE 2582 genome.wustl.edu 37 1 24123563 24123563 + Silent SNP G G T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_000403.3 -1 reviewed p.P201 0.876 205 0% 262 38.2% 86 52.3% - - - HMMPfam_Epimerase,superfamily_NAD(P)-binding Rossmann-fold domains MYOM3 127294 genome.wustl.edu 37 1 24417405 24417405 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_152372.3 -1 validated p.V438 0.000 135 0% 154 48.1% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III LOC100128346 100128346 genome.wustl.edu 37 1 26496798 26496798 + Frame_Shift_Del DEL C C - novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 XM_001716649.2 -1 model p.E98fs 0.030 - - - - - - - - - NULL CEP85 64793 genome.wustl.edu 37 1 26584679 26584679 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000453146 +1 known p.A35V 0.978 149 0% 188 42.6% 7 42.8% - - - NULL FGR 2268 genome.wustl.edu 37 1 27943431 27943431 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001042729.1 -1 reviewed p.G207S 1.000 155 0% 190 38.4% 0 - probably_damaging(0.999) tolerated(0.08) deleterious(0.790) HMMPfam_SH2,HMMSmart_SH2,superfamily_SSF55550 PTPRU 10076 genome.wustl.edu 37 1 29585175 29585175 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_005704.3 +1 reviewed p.R122C 1.000 96 0% 132 50.8% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_MAM,HMMSmart_SM00137 DLGAP3 58512 genome.wustl.edu 37 1 35370007 35370007 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001080418.1 -1 provisional p.S326 0.201 44 0% 44 36.4% 0 - - - - NULL EIF2C1 26523 genome.wustl.edu 37 1 36372574 36372574 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_012199.2 +1 reviewed p.A479V 1.000 166 0.6% 204 41.7% 4 0% possibly_damaging(0.602) tolerated(0.12) deleterious(0.469) NULL KIF2C 11004 genome.wustl.edu 37 1 45226082 45226082 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_006845.3 +1 validated p.A500T 0.997 111 0% 114 13.2% 55 16.3% benign(0.353) tolerated(0.06) neutral(0.434) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases CYP4A11 1579 genome.wustl.edu 37 1 47399670 47399670 + Silent SNP G G T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_000778.3 -1 reviewed p.G390 0.566 283 0% 292 33.6% 0 - - - - HMMPfam_p450,superfamily_Cytochrome P450 C1orf185 284546 genome.wustl.edu 37 1 51613203 51613203 + Silent SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001136508.1 +1 predicted p.S120 0.985 325 0% 395 37.5% 0 - - - - NULL ACOT11 26027 genome.wustl.edu 37 1 55066960 55066960 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_015547.2 +1 reviewed p.C301 0.367 54 1.9% 68 39.7% 5 20% - - - HMMPfam_4HBT,superfamily_Thioesterase/thiol ester dehydrase-isomerase HEATR8 374977 genome.wustl.edu 37 1 55158214 55158214 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001039464.2 +1 validated p.R943 0.015 108 0% 128 41.4% 1 0% - - - superfamily_ARM repeat WDR78 79819 genome.wustl.edu 37 1 67340571 67340571 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_024763.4 -1 validated p.D231 0.981 213 0% 221 48.4% 0 - - - - NULL C1orf173 127254 genome.wustl.edu 37 1 75039054 75039054 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001002912.4 -1 validated p.A780 0.000 269 0.4% 303 35.3% 0 - - - - NULL EVI5 7813 genome.wustl.edu 37 1 93170121 93170121 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_005665.4 -1 validated p.K154 0.997 287 0% 290 29.7% 2 100% - - - superfamily_Ypt/Rab-GAP domain of gyp1p CCDC18 343099 genome.wustl.edu 37 1 93682252 93682252 + Silent SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000421014 +1 known p.L339S 0.998 94 0% 118 41.5% 1 100% - - - NULL ABCA4 24 genome.wustl.edu 37 1 94497391 94497391 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_000350.2 -1 reviewed p.A1357 0.005 120 0% 121 53.7% 0 - - - - NULL ALG14 199857 genome.wustl.edu 37 1 95448798 95448798 + Missense_Mutation SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_144988.3 -1 validated p.L162P 0.824 144 0% 150 40% 38 47.3% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Alg14,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase COL11A1 1301 genome.wustl.edu 37 1 103471859 103471859 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_080629.2 -1 reviewed p.V578I 0.977 62 0% 65 35.4% 3 0% unknown(0) tolerated(0.46) - HMMPfam_Collagen KCNC4 3749 genome.wustl.edu 37 1 110754616 110754616 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_004978.3 +1 reviewed p.D165 0.948 11 0% 16 50% 0 - - - - NULL CHIA 27159 genome.wustl.edu 37 1 111857959 111857959 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_201653.2 +1 validated p.R128C 0.998 147 0.7% 182 40.1% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_hydro_18,HMMSmart_SM00636,superfamily_(Trans)glycosidases MAGI3 260425 genome.wustl.edu 37 1 113933670 113933672 + In_Frame_Del DEL GAA GAA - novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001142782.1 +1 validated p.K9in_frame_del 1.000:1.000:1.000 - - - - - - - - - superfamily_PDZ PTPN22 26191 genome.wustl.edu 37 1 114402009 114402009 + Frame_Shift_Del DEL T T - novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_015967.4 -1 reviewed p.N54fs 1.000 - - - - - - - - - HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799 HIPK1 204851 genome.wustl.edu 37 1 114483378 114483378 + Nonsense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_198268.1 +1 reviewed p.R125* 1.000 96 1% 80 38.8% 6 33.3% - - - NULL CSDE1 7812 genome.wustl.edu 37 1 115280661 115280661 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001130523.1 -1 validated p.R124W 1.000 474 0.2% 655 45% 134 45.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CSD,HMMSmart_SM00357,superfamily_Nucleic acid-binding proteins SYCP1 6847 genome.wustl.edu 37 1 115469184 115469184 + Missense_Mutation SNP G G T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_003176.2 +1 validated p.K642N 1.000 133 0% 116 31% 0 - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_SCP-1 NOTCH2 4853 genome.wustl.edu 37 1 120464892 120464892 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_024408.2 -1 reviewed p.R1727H 0.999 195 1% 215 46.5% 9 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL MCL1 4170 genome.wustl.edu 37 1 150551566 150551566 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_021960.3 -1 reviewed p.V147 0.005 17 0% 25 32% 101 18.8% - - - NULL ENSA 2029 genome.wustl.edu 37 1 150598966 150598966 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_207042.1 -1 reviewed p.A74T 0.000 237 0% 434 31.1% 9 11.1% benign(0) tolerated(0.2) neutral(0.049) HMMPfam_Endosulfine PSMD4 5710 genome.wustl.edu 37 1 151234658 151234658 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_002810.2 +1 reviewed p.M16I 1.000 175 0% 346 28% 380 28.1% possibly_damaging(0.937) deleterious(0.01) deleterious(0.788) HMMSmart_SM00327,superfamily_vWA-like FLG 2312 genome.wustl.edu 37 1 152280012 152280012 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_002016.1 -1 reviewed p.S2450 0.000 420 0% 890 27.6% 0 - - - - NULL FLG 2312 genome.wustl.edu 37 1 152285349 152285349 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_002016.1 -1 reviewed p.G671 0.000 619 0% 1137 61.7% 0 - - - - NULL KPRP 448834 genome.wustl.edu 37 1 152732318 152732318 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001025231.1 +1 provisional p.A85V 0.166 222 0% 394 32% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL ZBTB7B 51043 genome.wustl.edu 37 1 154987528 154987528 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_015872.2 +1 validated p.P131L 0.973 23 0% 53 49.1% 43 46.5% probably_damaging(0.99) tolerated(0.07) deleterious(0.760) HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB RUSC1-AS1 284618 genome.wustl.edu 37 1 155290862 155290862 + Missense_Mutation SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001039517.1 -1 predicted p.I140V 0.033 209 0% 465 33.8% 0 - - - - NULL YY1AP1 55249 genome.wustl.edu 37 1 155630674 155630674 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_139118.1 -1 reviewed p.R389W 0.867 355 0% 617 27.4% 68 39.7% benign(0.007) tolerated(0.11) neutral(0.272) NULL LMNA 4000 genome.wustl.edu 37 1 156108279 156108279 + Missense_Mutation SNP G G T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_170707.2 +1 reviewed p.G567C 1.000 5 0.000 26 0.385 128 5.4% benign(0) tolerated(0.1) neutral(0.286) NULL C1orf85 112770 genome.wustl.edu 37 1 156264584 156264584 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_144580.1 -1 provisional p.S115N 0.960 92 0% 184 34.2% 45 46.6% probably_damaging(0.998) tolerated(0.11) deleterious(0.746) NULL SPTA1 6708 genome.wustl.edu 37 1 158614979 158614979 + Missense_Mutation SNP T T G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_003126.2 -1 reviewed p.Q1398P 1.000 250 0% 344 30.8% 0 - probably_damaging(0.99) deleterious(0.01) deleterious(0.847) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat PEX19 5824 genome.wustl.edu 37 1 160252796 160252796 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_002857.3 -1 reviewed p.A95V 1.000 261 0% 453 24.1% 34 32.3% probably_damaging(0.991) tolerated(0.53) neutral(0.452) HMMPfam_Pex19 VANGL2 57216 genome.wustl.edu 37 1 160385637 160385637 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_020335.1 +1 validated p.E4K 1.000 53 0% 93 29% 2 0% unknown(0) deleterious(0.01) - NULL LRRC52 440699 genome.wustl.edu 37 1 165532754 165532754 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001005214.3 +1 validated p.A212V 1.000 58 0% 78 29.5% 0 - benign(0.02) tolerated(1) neutral(0.001) superfamily_SSF52058 UCK2 7371 genome.wustl.edu 37 1 165859448 165859448 + Missense_Mutation SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_012474.3 +1 reviewed p.V36A 0.984 380 0% 623 29.5% 72 37.5% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_PRK,superfamily_P-loop containing nucleoside triphosphate hydrolases RASAL2 9462 genome.wustl.edu 37 1 178436504 178436504 + Missense_Mutation SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_170692.2 +1 reviewed p.H1198R 1.000 199 0% 369 25.2% 3 33.3% probably_damaging(0.995) tolerated(0.11) deleterious(0.729) NULL STX6 10228 genome.wustl.edu 37 1 180959161 180959161 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_005819.4 -1 validated p.A150T 0.999 122 0% 225 25.8% 27 33.3% benign(0.003) tolerated(0.46) neutral(0.012) NULL CACNA1E 777 genome.wustl.edu 37 1 181726068 181726068 + Missense_Mutation SNP C C A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_000721.2 +1 reviewed p.Q1379K 1.000 201 0% 375 31.7% 0 - benign(0.034) tolerated(1) neutral(0.002) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels RGSL1 353299 genome.wustl.edu 37 1 182443409 182443409 + Missense_Mutation SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001137669.1 +1 validated p.L388P 0.539 207 0% 371 29.6% 0 - - - - superfamily_Regulator of G-protein signaling RGS RGL1 23179 genome.wustl.edu 37 1 183849791 183849791 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_015149.3 +1 validated p.A191V 0.970 169 0% 288 30.9% 4 25% benign(0.01) deleterious(0.01) neutral(0.406) HMMPfam_RasGEF_N,HMMSmart_SM00229,superfamily_Ras GEF EDEM3 80267 genome.wustl.edu 37 1 184706771 184706771 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_025191.3 -1 validated p.R93 0.998 239 0% 474 29.1% 8 50% - - - HMMPfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 FAM129A 116496 genome.wustl.edu 37 1 184764655 184764657 + In_Frame_Del DEL TCT TCT - novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_052966.2 -1 validated p.E749in_frame_del 0.015:0.028:0.026 - - - - - - - - - NULL CDC73 79577 genome.wustl.edu 37 1 193111081 193111081 + Missense_Mutation SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_024529.4 +1 reviewed p.I205T 1.000 137 0.7% 282 23% 30 36.6% benign(0.062) tolerated(0.46) neutral(0.016) NULL LHX9 56956 genome.wustl.edu 37 1 197889268 197889268 + Missense_Mutation SNP A A T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_020204.2 +1 reviewed p.K114M 1.000 79 0% 161 38.5% 0 - probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_LIM,HMMSmart_SM00132,superfamily_Glucocorticoid receptor-like (DNA-binding domain) LGR6 59352 genome.wustl.edu 37 1 202287455 202287455 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001017403.1 +1 reviewed p.R675Q 0.986 37 0% 71 33.8% 1 0% benign(0.248) tolerated(0.45) neutral(0.037) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PPFIA4 8497 genome.wustl.edu 37 1 203033007 203033007 + Frame_Shift_Del DEL C C - novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_015053.1 +1 validated p.S471fs 1.000 - - - - - - - - - HMMPfam_SAM_1,HMMSmart_SM00454,superfamily_SAM/Pointed domain ATP2B4 493 genome.wustl.edu 37 1 203691752 203691752 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001684.3 +1 reviewed p.V987I 1.000 235 0% 378 30.4% 19 42.1% probably_damaging(0.982) tolerated(0.23) neutral(0.468) HMMPfam_Cation_ATPase_C,superfamily_Calcium ATPase transmembrane domain M SLC41A1 254428 genome.wustl.edu 37 1 205779378 205779378 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_173854.4 -1 validated p.D64 0.997 116 0% 265 29.1% 8 0% - - - NULL FCAMR 83953 genome.wustl.edu 37 1 207139159 207139159 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001122979.2 -1 validated p.L72 0.139 121 0% 229 30.6% 0 - - - - NULL LOC642587 642587 genome.wustl.edu 37 1 209602684 209602684 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001104548.1 +1 validated p.T14 0.000 264 0.4% 378 28.6% 0 - - - - NULL SYT14 255928 genome.wustl.edu 37 1 210187116 210187116 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_153262.2 +1 validated p.T67I 0.984 127 0% 212 28.8% 0 - benign(0.002) tolerated(0.06) neutral(0.323) NULL USH2A 7399 genome.wustl.edu 37 1 215848632 215848632 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_206933.2 -1 reviewed p.A4207 0.000 245 0% 375 29.3% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III ESRRG 2104 genome.wustl.edu 37 1 216680454 216680454 + Missense_Mutation SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001438.2 -1 validated p.Y402H 1.000 235 0% 319 31.3% 4 25% benign(0.106) tolerated(0.43) neutral(0.021) HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain GPATCH2 55105 genome.wustl.edu 37 1 217784343 217784343 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_018040.2 -1 provisional p.V302 0.012 239 0% 390 25.1% 12 41.6% - - - NULL DISP1 84976 genome.wustl.edu 37 1 223177598 223177598 + Silent SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_032890.2 +1 reviewed p.S953 0.000 211 0% 350 24.3% 11 27.2% - - - HMMPfam_Patched,superfamily_SSF82866 PSEN2 5664 genome.wustl.edu 37 1 227083146 227083146 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_000447.2 +1 reviewed p.L405 1.000 219 0% 408 33.1% 30 30% - - - HMMPfam_Presenilin,HMMSmart_SM00730 CDC42BPA 8476 genome.wustl.edu 37 1 227211022 227211022 + Silent SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000442054 -1 known p.I813V 0.968 96 0% 119 32.8% 5 0% - - - HMMPfam_CNH,HMMSmart_SM00036 TRIM17 51127 genome.wustl.edu 37 1 228598740 228598740 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001024940.2 -1 reviewed p.S221 0.766 37 0% 91 30.8% 1 0% - - - NULL ARV1 64801 genome.wustl.edu 37 1 231131563 231131563 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_022786.1 +1 provisional p.T169M 0.001 223 0% 360 29.4% 23 21.7% possibly_damaging(0.945) deleterious(0.03) deleterious(0.754) HMMPfam_Arv1 TRIM67 440730 genome.wustl.edu 37 1 231335911 231335911 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001004342.3 +1 validated p.I427 1.000 142 0% 266 32% 0 - - - - HMMSmart_SM00502 NID1 4811 genome.wustl.edu 37 1 236205339 236205339 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_002508.2 -1 reviewed p.R336W 0.003 100 1% 216 26.9% 20 10% possibly_damaging(0.768) tolerated(0.11) deleterious(0.556) NULL RYR2 6262 genome.wustl.edu 37 1 237758907 237758907 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001035.2 +1 reviewed p.G1516R 1.000 251 0% 463 32.2% 0 - probably_damaging(1) - - HMMPfam_SPRY,HMMSmart_SM00449 FMN2 56776 genome.wustl.edu 37 1 240256586 240256586 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_020066.4 +1 validated p.A393T 0.000 43 0% 84 28.6% 0 - unknown(0) deleterious(0.03) - NULL ACP1 52 genome.wustl.edu 37 2 272047 272047 + Missense_Mutation SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_004300.3 +1 reviewed p.D43G 1.000 126 0% 166 41% 70 32.8% probably_damaging(0.957) deleterious(0.01) deleterious(0.806) HMMPfam_LMWPc,HMMSmart_SM00226,superfamily_Phosphotyrosine protein phosphatases I KLF11 8462 genome.wustl.edu 37 2 10187784 10187786 + In_Frame_Del DEL CTC CTC - novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_003597.4 +1 reviewed p.P109in_frame_del 1.000:0.880:1.000 - - - - - - - - - NULL RRM2 6241 genome.wustl.edu 37 2 10269069 10269069 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001034.3 +1 reviewed p.R298Q 0.901 203 0.5% 314 42.4% 112 43.7% benign(0.001) tolerated(0.2) neutral(0.049) HMMPfam_Ribonuc_red_sm,superfamily_Ferritin/RR_like APOB 338 genome.wustl.edu 37 2 21234576 21234576 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_000384.2 -1 reviewed p.D1722N 0.979 201 0% 257 51% 0 - probably_damaging(0.992) - - NULL TP53I3 9540 genome.wustl.edu 37 2 24303667 24303667 + Missense_Mutation SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000413037 -1 known p.F209S 0.907 76 0% 82 52.4% 8 62.5% benign(0.29) deleterious(0) deleterious(0.534) NULL OTOF 9381 genome.wustl.edu 37 2 26705431 26705431 + Silent SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_194248.2 -1 reviewed p.Y474 0.974 74 0% 123 44.7% 0 - - - - HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) AGBL5 60509 genome.wustl.edu 37 2 27276020 27276020 + Missense_Mutation SNP C C G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_021831.5 +1 validated p.T65R 0.999 128 0% 162 42% 16 43.7% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL LBH 81606 genome.wustl.edu 37 2 30480356 30480356 + Missense_Mutation SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_030915.3 +1 validated p.S63P 1.000 55 0% 87 29.9% 21 23.8% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL RASGRP3 25780 genome.wustl.edu 37 2 33783830 33783831 + Frame_Shift_Ins INS - - A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001139488.1 +1 validated p.I600fs 0.969:1.000 - - - - - - - - - NULL LOC728819 728819 genome.wustl.edu 37 2 43903062 43903062 + Missense_Mutation SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001101330.1 -1 provisional p.N134D 0.962 203 0% 223 41.7% 0 - - - - NULL FSHR 2492 genome.wustl.edu 37 2 49190209 49190209 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_000145.3 -1 reviewed p.C584Y 1.000 149 0% 216 47.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like RTN4 57142 genome.wustl.edu 37 2 55253071 55253071 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_020532.4 -1 reviewed p.A722T 0.051 55 0% 52 53.8% 0 - possibly_damaging(0.81) deleterious(0.05) deleterious(0.650) NULL RPS27A 6233 genome.wustl.edu 37 2 55462017 55462019 + In_Frame_Del DEL GAA GAA - novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001135592.2 +1 reviewed p.K83in_frame_del 0.998:1.000:1.000 - - - - - - - - - superfamily_Ubiquitin-like PCBP1 5093 genome.wustl.edu 37 2 70315909 70315909 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_006196.3 +1 reviewed p.A345V 1.000 60 0% 54 37% 670 45.5% benign(0.001) tolerated(0.53) neutral(0.007) HMMSmart_SM00322,superfamily_Eukaryotic type KH-domain (KH-domain type I) EGR4 1961 genome.wustl.edu 37 2 73518784 73518784 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001965.3 -1 validated p.R421H 1.000 103 0% 151 45.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 C2orf81 388963 genome.wustl.edu 37 2 74641759 74641759 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001145054.1 -1 predicted p.G488 0.000 145 0.7% 191 45% 15 33.3% - - - NULL DOK1 1796 genome.wustl.edu 37 2 74783744 74783744 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001381.2 +1 reviewed p.D317N 1.000 113 0% 130 43.1% 96 50% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL C2orf65 130951 genome.wustl.edu 37 2 74789417 74789417 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_138804.3 -1 predicted p.R403Q 0.966 329 0% 474 42.6% 0 - probably_damaging(0.975) tolerated(0.12) deleterious(0.677) NULL HK2 3099 genome.wustl.edu 37 2 75081481 75081481 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_000189.4 +1 reviewed p.R42Q 1.000 98 0% 121 38.8% 28 60.7% possibly_damaging(0.765) deleterious(0.02) deleterious(0.667) HMMPfam_Hexokinase_1,superfamily_SSF53067 LRRTM1 347730 genome.wustl.edu 37 2 80530186 80530186 + Missense_Mutation SNP G G C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_178839.4 -1 validated p.D253E 1.000 133 0% 172 43.6% 0 - benign(0.008) tolerated(1) - superfamily_SSF52058 C2orf89 129293 genome.wustl.edu 37 2 85051237 85051237 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001080824.1 -1 predicted p.V343I 0.001 329 0% 394 46.4% 0 - benign(0) tolerated(0.44) neutral(0.013) NULL POLR1A 25885 genome.wustl.edu 37 2 86297314 86297314 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_015425.3 -1 validated p.R565C 0.917 252 0% 343 46.4% 7 28.5% benign(0.003) tolerated(0.09) neutral(0.296) HMMPfam_RNA_pol_Rpb1_2,HMMSmart_SM00663,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase CD8B 926 genome.wustl.edu 37 2 87085378 87085378 + Missense_Mutation SNP A A T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_172213.3 -1 reviewed p.F69I 0.997 330 0% 482 41.9% 2 0% probably_damaging(0.969) tolerated(0.2) neutral(0.460) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 CNGA3 1261 genome.wustl.edu 37 2 99013569 99013569 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001298.2 +1 reviewed p.R646C 0.103 54 0% 54 50% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL RFX8 731220 genome.wustl.edu 37 2 102022484 102022484 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001145664.1 -1 validated p.A283 0.654 354 0% 442 41.2% 0 - - - - NULL NCK2 8440 genome.wustl.edu 37 2 106498393 106498393 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001004720.2 +1 reviewed p.R279H 1.000 31 0% 26 42.3% 78 53.8% possibly_damaging(0.824) tolerated(0.13) deleterious(0.565) superfamily_SH3,superfamily_SSF55550 RGPD3 653489 genome.wustl.edu 37 2 107049696 107049696 + Missense_Mutation SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001144013.1 -1 validated p.M751V 0.996 787 0% 1098 24.8% 1 0% benign(0.002) tolerated(0.51) neutral(0.009) NULL SULT1C3 442038 genome.wustl.edu 37 2 108875465 108875486 + Frame_Shift_Del DEL AAACTTGGTCAGGTGATGTTAT AAACTTGGTCAGGTGATGTTAT - rs72322214 byCluster TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 AAACTTGGTCAGGTGATGTTAT AAACTTGGTCAGGTGATGTTAT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000376700 +1 known p.W224fs 0.420:0.382:0.018:0.002:0.000:0.000:0.001:0.000:0.000:0.000:0.002:0.395:0.396:0.268:0.312:0.255:0.004:0.004:0.004:0.002:0.004:0.025 - - - - - - - - - HMMPfam_Sulfotransfer_1,superfamily_SSF52540 WDR33 55339 genome.wustl.edu 37 2 128477459 128477459 + Nonsense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_018383.3 -1 reviewed p.Q714* 0.882 100 0% 128 40.6% 24 16.6% - - - HMMPfam_Collagen POTEE 445582 genome.wustl.edu 37 2 131976331 131976331 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001083538.1 +1 validated p.A119V 0.001 288 0% 362 39.5% 0 - benign(0.079) deleterious(0.01) neutral(0.411) superfamily_Ankyrin repeat ZRANB3 84083 genome.wustl.edu 37 2 135960422 135960423 + Frame_Shift_Del DEL AG AG - novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_032143.2 -1 provisional p.C1041fs 1.000:1.000 - - - - - - - - - HMMPfam_HNH,HMMSmart_SM00507 NEB 4703 genome.wustl.edu 37 2 152467320 152467320 + Missense_Mutation SNP G G T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_004543.4 -1 reviewed p.P3713T 1.000 358 0% 432 38.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Nebulin,HMMSmart_SM00227 FIGN 55137 genome.wustl.edu 37 2 164467736 164467736 + Silent SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_018086.2 -1 validated p.P202 0.986 286 0% 395 41.5% 0 - - - - NULL SCN2A 6326 genome.wustl.edu 37 2 166245668 166245668 + Silent SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001040142.1 +1 reviewed p.E1784 1.000 452 0% 620 47.3% 0 - - - - superfamily_Voltage-gated potassium channels TTC21B 79809 genome.wustl.edu 37 2 166797563 166797563 + Missense_Mutation SNP C C A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_024753.3 -1 validated p.W228C 1.000 272 0% 282 36.2% 5 40% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_TPR-like TLK1 9874 genome.wustl.edu 37 2 171850444 171850444 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_012290.4 -1 validated p.A716V 1.000 252 0% 302 40.1% 24 45.8% benign(0.001) tolerated(0.41) neutral(0.015) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase TTN 7273 genome.wustl.edu 37 2 179469945 179469945 + Missense_Mutation SNP G G T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000356127 -1 known p.P15419T 1.000 97 0% 110 49.1% 0 - benign(0.014) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179594256 179594256 + Missense_Mutation SNP C C A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000356127 -1 known p.E4965D 0.963 155 0% 209 43.5% 0 - unknown(0) - - HMMSmart_SM00409,HMMPfam_I-set FAM171B 165215 genome.wustl.edu 37 2 187626444 187626444 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_177454.3 +1 validated p.D459N 0.998 42 0% 38 36.8% 0 - unknown(0) - - HMMPfam_UPF0560 DNAH7 56171 genome.wustl.edu 37 2 196801401 196801401 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_018897.2 -1 validated p.R1065H 1.000 133 0% 95 43.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DHC_N2 CCDC150 284992 genome.wustl.edu 37 2 197531513 197531513 + Missense_Mutation SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001080539.1 +1 provisional p.Q278R 0.950 174 0% 173 49.7% 0 - possibly_damaging(0.478) tolerated(0.13) neutral(0.410) NULL NDUFS1 4719 genome.wustl.edu 37 2 207014564 207014564 + Missense_Mutation SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_005006.5 -1 reviewed p.V80A 1.000 242 0% 376 43.1% 26 34.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Fer2,superfamily_Ferredoxin IDH1 3417 genome.wustl.edu 37 2 209113297 209113297 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_005896.2 -1 reviewed p.G70 0.999 373 0% 541 39.4% 688 49.1% - - - HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like BARD1 580 genome.wustl.edu 37 2 215610465 215610465 + Silent SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_000465.2 -1 reviewed p.Y597 0.105 254 0% 289 36.7% 8 62.5% - - - HMMPfam_BRCT,HMMSmart_BRCT,superfamily_BRCT OBSL1 23363 genome.wustl.edu 37 2 220432811 220432811 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_015311.2 -1 reviewed p.G416 1.000 56 0% 75 38.7% 4 25% - - - HMMSmart_IG,superfamily_SSF48726 STK11IP 114790 genome.wustl.edu 37 2 220471198 220471198 + Missense_Mutation SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000456909 +1 known p.F316L 1.000 353 0% 494 43.7% 19 36.8% benign(0.036) tolerated(0.15) neutral(0.243) superfamily_Outer arm dynein light chain 1 SH3BP4 23677 genome.wustl.edu 37 2 235962407 235962407 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_014521.2 +1 reviewed p.V947I 0.009 192 0% 260 43.5% 54 44.4% unknown(0) tolerated(1) - NULL AGAP1 116987 genome.wustl.edu 37 2 236653432 236653432 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001037131.1 +1 validated p.A163T 1.000 265 0% 291 35.1% 6 33.3% benign(0.103) deleterious(0.02) neutral(0.391) HMMSmart_SM00173,HMMSmart_SM00175,HMMPfam_Miro,superfamily_P-loop containing nucleoside triphosphate hydrolases PER2 8864 genome.wustl.edu 37 2 239161838 239161838 + Silent SNP G G T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_022817.2 -1 reviewed p.A942 0.000 110 0% 182 42.3% 13 30.7% - - - NULL KIF1A 547 genome.wustl.edu 37 2 241724458 241724458 + Missense_Mutation SNP A A T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_004321.4 -1 reviewed p.I223N 1.000 286 0% 408 45.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases PDCD1 5133 genome.wustl.edu 37 2 242794793 242794793 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_005018.2 -1 reviewed p.R139Q 0.000 33 0% 41 43.9% 3 0% benign(0.033) tolerated(0.39) neutral(0.018) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin C3orf32 51066 genome.wustl.edu 37 3 8671354 8671354 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_015931.1 -1 predicted p.G173D 0.758 97 0% 121 39.7% 2 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL OXTR 5021 genome.wustl.edu 37 3 8794706 8794706 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_000916.3 -1 reviewed p.R376H 0.112 56 1.8% 78 48.7% 1 100% unknown(0) tolerated(0.48) - NULL OXNAD1 92106 genome.wustl.edu 37 3 16336499 16336499 + Missense_Mutation SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_138381.2 +1 validated p.N143D 1.000 171 0% 228 47.4% 10 40% benign(0.026) tolerated(0.55) neutral(0.008) superfamily_Riboflavin_synthase_like_b-brl CLASP2 23122 genome.wustl.edu 37 3 33738393 33738393 + Silent SNP G G T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_015097.1 -1 validated p.A76 1.000 135 0% 143 13.3% 4 25% - - - superfamily_ARM repeat EPM2AIP1 9852 genome.wustl.edu 37 3 37034227 37034227 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_014805.3 -1 reviewed p.G114 1.000 158 0% 182 44% 0 - - - - NULL MYRIP 25924 genome.wustl.edu 37 3 40231760 40231760 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_015460.2 +1 validated p.H491Y 0.061 99 0% 138 34.1% 11 9% benign(0) deleterious(0.02) neutral(0.383) NULL KBTBD5 131377 genome.wustl.edu 37 3 42727737 42727737 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_152393.2 +1 validated p.A209 0.317 32 0% 45 46.7% 0 - - - - HMMPfam_BACK CCDC13 152206 genome.wustl.edu 37 3 42750540 42750540 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_144719.3 -1 validated p.E694K 0.940 110 0% 146 41.8% 0 - benign(0.4) tolerated(0.06) neutral(0.451) NULL C3orf77 375337 genome.wustl.edu 37 3 44285106 44285106 + Missense_Mutation SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001145030.1 +1 validated p.K370E 0.283 23 0% 27 37% 0 - possibly_damaging(0.945) deleterious(0) deleterious(0.834) NULL ZNF445 353274 genome.wustl.edu 37 3 44488923 44488923 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_181489.5 -1 validated p.T747I 0.000 221 0% 230 38.3% 2 0% benign(0.014) tolerated(0.09) neutral(0.297) superfamily_SSF57667 LZTFL1 54585 genome.wustl.edu 37 3 45879491 45879491 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_020347.2 -1 validated p.R19H 1.000 201 0% 199 37.7% 14 28.5% possibly_damaging(0.557) tolerated(0.12) neutral(0.451) NULL CCR9 10803 genome.wustl.edu 37 3 45943215 45943215 + Missense_Mutation SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_031200.1 +1 reviewed p.L312P 1.000 352 0% 440 40.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like LAMB2 3913 genome.wustl.edu 37 3 49162039 49162039 + Frame_Shift_Del DEL G G - novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_002292.3 -1 reviewed p.T1039fs 1.000 - - - - - - - - - HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,PatternScan_EGF_LAM_1,superfamily_SSF57196 RBM15B 29890 genome.wustl.edu 37 3 51430381 51430381 + Nonsense_Mutation SNP C C G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_013286.3 +1 validated p.Y517* 0.158 36 0% 42 50% 79 51.8% - - - NULL TLR9 54106 genome.wustl.edu 37 3 52257842 52257842 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_017442.2 -1 reviewed p.A164T 0.000 262 0% 324 47.5% 0 - benign(0.001) tolerated(1) - superfamily_L domain-like ACTR8 93973 genome.wustl.edu 37 3 53904045 53904045 + Silent SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000486794 -1 known p.E319G 0.959 303 0% 402 49.3% 26 50% - - - HMMSmart_SM00268,superfamily_Actin-like ATPase domain ENSG00000222888 0 genome.wustl.edu 37 3 53916220 53916220 + RNA SNP G G T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000410956 -1 novel NULL 0.967 23 0% 25 16% 0 - - - - - MAGI1 9223 genome.wustl.edu 37 3 65415721 65415721 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000460329 -1 known p.A428V 0.280 187 0% 252 45.2% 11 36.3% - - - HMMSmart_SM00228,superfamily_PDZ domain-like ROBO1 6091 genome.wustl.edu 37 3 78987969 78987969 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_002941.3 -1 reviewed p.R94H 1.000 412 0% 503 46.3% 1 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin FAM55C 91775 genome.wustl.edu 37 3 101520209 101520209 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001134456.1 +1 validated p.R75H 0.934 144 0% 157 49% 3 33.3% benign(0.021) deleterious(0.04) neutral(0.350) HMMPfam_Neurexophilin DPPA4 55211 genome.wustl.edu 37 3 109050759 109050759 + Silent SNP G G T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_018189.3 -1 validated p.R100 0.497 340 0% 464 44.4% 0 - - - - NULL MYLK 4638 genome.wustl.edu 37 3 123452783 123452783 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_053025.3 -1 reviewed p.P354S 0.027 95 0% 104 54.8% 0 - possibly_damaging(0.532) tolerated(0.23) neutral(0.222) NULL KALRN 8997 genome.wustl.edu 37 3 124281826 124281826 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001024660.3 +1 reviewed p.R1689H 1.000 56 0% 64 43.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain UMPS 7372 genome.wustl.edu 37 3 124453942 124453942 + Silent SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_000373.3 +1 reviewed p.V53 0.964 109 0% 120 46.7% 36 50% - - - HMMPfam_Pribosyltran,superfamily_PRTase-like IFT122 55764 genome.wustl.edu 37 3 129207085 129207085 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000446384 +1 known p.D18N 0.001 184 0% 257 40.5% 0 - - - - NULL TM4SF1 4071 genome.wustl.edu 37 3 149095309 149095309 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_014220.2 -1 reviewed p.C9Y 0.926 185 0% 308 43.5% 70 40% benign(0) tolerated(0.16) neutral(0.059) HMMPfam_L6_membrane EIF2A 83939 genome.wustl.edu 37 3 150281337 150281337 + Nonsense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_032025.3 +1 validated p.Q110* 0.995 108 0% 113 40.7% 18 11.1% - - - superfamily_WD40 repeat-like EIF2A 83939 genome.wustl.edu 37 3 150299528 150299530 + In_Frame_Del DEL AAG AAG - novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_032025.3 +1 validated p.K543in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL SLC7A14 57709 genome.wustl.edu 37 3 170204024 170204024 + Missense_Mutation SNP G G C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_020949.2 -1 validated p.T298R 1.000 311 0% 492 47.2% 0 - probably_damaging(0.993) deleterious(0.01) deleterious(0.856) HMMPfam_AA_permease PLD1 5337 genome.wustl.edu 37 3 171405271 171405271 + Missense_Mutation SNP A A C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_002662.3 -1 validated p.L548R 1.000 338 0% 413 46.5% 0 - possibly_damaging(0.492) tolerated(0.08) neutral(0.464) superfamily_Phospholipase D/nuclease MCCC1 56922 genome.wustl.edu 37 3 182810273 182810273 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_020166.3 -1 reviewed p.R66H 0.997 322 0% 408 44.1% 8 50% possibly_damaging(0.463) tolerated(0.1) neutral(0.439) HMMPfam_CPSase_L_chain,superfamily_PreATP-grasp-like HTR3D 200909 genome.wustl.edu 37 3 183750729 183750729 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000382489 +1 known p.H37 0.616 222 0% 239 39.3% 0 - - - - NULL HTR3E 285242 genome.wustl.edu 37 3 183823150 183823150 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_182589.2 +1 reviewed p.G234S 0.997 211 0% 297 41.8% 0 - benign(0.01) tolerated(0.58) neutral(0.005) HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD CHRD 8646 genome.wustl.edu 37 3 184098488 184098488 + Missense_Mutation SNP T T G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_003741.2 +1 reviewed p.F53V 1.000 50 0% 71 50.7% 2 0% possibly_damaging(0.915) deleterious(0) deleterious(0.811) HMMPfam_VWC,HMMSmart_SM00214 CPN2 1370 genome.wustl.edu 37 3 194061820 194061820 + Missense_Mutation SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001080513.2 -1 validated p.I538V 0.001 45 0% 45 46.7% 0 - probably_damaging(0.985) deleterious(0) deleterious(0.877) NULL MUC4 4585 genome.wustl.edu 37 3 195475901 195475901 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_018406.5 -1 reviewed p.C5174 0.006 96 0% 115 31.3% 0 - - - - NULL GAK 2580 genome.wustl.edu 37 4 845661 845661 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_005255.2 -1 validated p.A1129T 0.000 120 0% 167 48.5% 89 47.1% benign(0) tolerated(1) - NULL IDUA 3425 genome.wustl.edu 37 4 995665 995665 + Missense_Mutation SNP G G T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_000203.3 +1 reviewed p.R263M 0.999 23 0% 31 54.8% 28 53.5% benign(0.27) deleterious(0.02) neutral(0.412) HMMPfam_Glyco_hydro_39,superfamily_Glyco_hydro_cat JAKMIP1 152789 genome.wustl.edu 37 4 6107416 6107416 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001099433.1 -1 validated p.A136 0.987 21 0% 35 34.3% 1 0% - - - NULL GPR78 27201 genome.wustl.edu 37 4 8582985 8582986 + In_Frame_Ins INS - - GCGGCGCTGAGCGTG novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_080819.2 +1 validated p.96in_frame_insVAALS 1.000:1.000 - - - - - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like LDB2 9079 genome.wustl.edu 37 4 16513622 16513622 + Missense_Mutation SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001290.3 -1 validated p.R241G 1.000 150 0% 170 41.2% 5 20% possibly_damaging(0.926) tolerated(0.07) deleterious(0.694) HMMPfam_LIM_bind PACRGL 133015 genome.wustl.edu 37 4 20706121 20706121 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_145048.3 +1 validated p.G6D 0.001 191 0% 197 44.7% 11 36.3% benign(0.086) tolerated(0.16) neutral(0.066) NULL LIMCH1 22998 genome.wustl.edu 37 4 41648508 41648509 + Frame_Shift_Del DEL GA GA - novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_014988.2 +1 validated p.E425fs 0.997:1.000 - - - - - - - - - NULL CWH43 80157 genome.wustl.edu 37 4 49005768 49005768 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_025087.2 +1 validated p.A273 0.007 128 0% 192 43.8% 14 57.1% - - - NULL EPHA5 2044 genome.wustl.edu 37 4 66242742 66242742 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_004439.5 -1 reviewed p.C610 1.000 183 0% 224 42.9% 0 - - - - NULL ODAM 54959 genome.wustl.edu 37 4 71062421 71062421 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_017855.3 +1 validated p.R22C 0.339 61 0% 59 30.5% 0 - possibly_damaging(0.905) deleterious(0.01) deleterious(0.765) NULL UTP3 57050 genome.wustl.edu 37 4 71554987 71554987 + Missense_Mutation SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_020368.2 +1 validated p.E198G 0.050 71 0% 103 39.8% 22 36.3% benign(0.037) tolerated(0.15) neutral(0.243) NULL HERC5 51191 genome.wustl.edu 37 4 89389501 89389501 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_016323.2 +1 reviewed p.S354 0.004 204 0% 200 42% 1 0% - - - superfamily_RCC1/BLIP-II SLC9B2 133308 genome.wustl.edu 37 4 103964578 103964578 + Missense_Mutation SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_178833.4 -1 validated p.F341L 0.112 248 0% 282 41.1% 3 33.3% benign(0.001) tolerated(1) - HMMPfam_Na_H_Exchanger LEF1 51176 genome.wustl.edu 37 4 109002806 109002806 + Missense_Mutation SNP G G C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_016269.4 -1 reviewed p.P220A 1.000 146 0% 193 45.1% 0 - possibly_damaging(0.65) deleterious(0.01) deleterious(0.634) NULL C4orf21 55345 genome.wustl.edu 37 4 113505260 113505260 + Missense_Mutation SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000505019 -1 known p.V1391A 0.000 232 0% 241 38.6% 3 66.6% benign(0.021) tolerated(0.22) neutral(0.043) HMMPfam_zf-GRF ANK2 287 genome.wustl.edu 37 4 114254248 114254248 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001148.4 +1 reviewed p.R1088Q 1.000 321 0.3% 395 49.6% 0 - probably_damaging(0.997) tolerated(0.07) deleterious(0.785) HMMPfam_ZU5 CAMK2D 817 genome.wustl.edu 37 4 114452377 114452377 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001221.3 -1 reviewed p.A199V 1.000 206 0% 212 39.2% 18 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase UGT8 7368 genome.wustl.edu 37 4 115544596 115544596 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001128174.1 +1 validated p.R187H 0.998 198 0.5% 222 49.1% 0 - benign(0.041) tolerated(0.42) neutral(0.017) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase NDST4 64579 genome.wustl.edu 37 4 115754767 115754767 + Silent SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_022569.1 -1 provisional p.A797 0.997 130 0% 95 49.5% 0 - - - - HMMPfam_Sulfotransfer_1,superfamily_SSF52540 METTL14 57721 genome.wustl.edu 37 4 119626804 119626809 + In_Frame_Del DEL TAGCAC TAGCAC - novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 TAGCAC TAGCAC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_020961.2 +1 provisional p.ST299in_frame_del 0.956:1.000:1.000:1.000:1.000:1.000 - - - - - - - - - HMMPfam_MT-A70 FAT4 79633 genome.wustl.edu 37 4 126328090 126328090 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_024582.4 +1 validated p.R1788H 0.954 136 0% 182 12.1% 0 - benign(0.004) tolerated(0.14) neutral(0.249) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDH18 54510 genome.wustl.edu 37 4 138452229 138452229 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_019035.3 -1 reviewed p.C338 1.000 15 0% 19 42.1% 2 0% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like MAB21L2 10586 genome.wustl.edu 37 4 151505076 151505076 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_006439.4 +1 reviewed p.R299W 1.000 64 0% 81 45.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Mab-21 TIGD4 201798 genome.wustl.edu 37 4 153691797 153691797 + Frame_Shift_Del DEL T T - novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_145720.2 -1 reviewed p.K120fs 1.000 - - - - - - - - - HMMSmart_SM00674,superfamily_Homeodomain-like,HMMPfam_CenpB-DNA-bind DCHS2 54798 genome.wustl.edu 37 4 155254491 155254491 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_017639.3 -1 validated p.A458T 0.872 69 0% 104 45.2% 0 - benign(0.013) tolerated(0.3) neutral(0.029) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like SPOCK3 50859 genome.wustl.edu 37 4 167658698 167658698 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_016950.2 -1 validated p.G354D 0.267 445 0% 536 39.9% 0 - probably_damaging(0.976) tolerated(0.22) neutral(0.460) HMMPfam_Thyroglobulin_1,HMMSmart_SM00211,PatternScan_THYROGLOBULIN_1_1,superfamily_Thyroglobulin type-1 domain MTNR1A 4543 genome.wustl.edu 37 4 187476467 187476467 + Missense_Mutation SNP C C A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_005958.3 -1 reviewed p.G18V 0.014 20 0% 15 26.7% 0 - benign(0) deleterious(0.01) neutral(0.406) superfamily_Family A G protein-coupled receptor-like PLEKHG4B 153478 genome.wustl.edu 37 5 163460 163460 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_052909.3 +1 validated p.P735 0.247 52 0% 43 58.1% 5 80% - - - NULL ADCY2 108 genome.wustl.edu 37 5 7414794 7414794 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_020546.2 +1 reviewed p.R107C 0.882 623 0.2% 836 48.4% 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL ADCY2 108 genome.wustl.edu 37 5 7773089 7773089 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_020546.2 +1 reviewed p.V753 0.960 415 0% 464 45.3% 1 0% - - - NULL DNAH5 1767 genome.wustl.edu 37 5 13900502 13900502 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001369.2 -1 reviewed p.G691D 1.000 111 0% 125 45.6% 0 - possibly_damaging(0.772) tolerated(0.05) deleterious(0.632) HMMPfam_DHC_N1 MARCH11 441061 genome.wustl.edu 37 5 16067733 16067733 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001102562.1 -1 provisional p.R352 0.995 191 0% 258 46.1% 0 - - - - NULL RAD1 5810 genome.wustl.edu 37 5 34914820 34914820 + Nonsense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_002853.3 -1 reviewed p.Q60* 1.000 304 0% 376 40.4% 34 50% - - - superfamily_DNA clamp FYB 2533 genome.wustl.edu 37 5 39202938 39202938 + Missense_Mutation SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001465.3 -1 validated p.Q42R 0.997 182 0% 168 14.9% 1 0% benign(0.133) deleterious(0) neutral(0.456) NULL SREK1IP1 285672 genome.wustl.edu 37 5 64036929 64036929 + Frame_Shift_Del DEL C C - novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_173829.3 -1 validated p.E54fs 1.000 - - - - - - - - - NULL MAP1B 4131 genome.wustl.edu 37 5 71491185 71491185 + Missense_Mutation SNP C C A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_005909.3 +1 validated p.P668H 0.045 191 0% 207 34.3% 0 - unknown(0) deleterious(0.03) - NULL FAM169A 26049 genome.wustl.edu 37 5 74109838 74109838 + Missense_Mutation SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_015566.1 -1 validated p.I166T 0.030 98 0% 98 51% 4 75% unknown(0) - - NULL VCAN 1462 genome.wustl.edu 37 5 82835229 82835232 + Frame_Shift_Del DEL AACA AACA - novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 AACA AACA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_004385.4 +1 reviewed p.T2138fs 0.727:0.688:0.713:0.678 - - - - - - - - - NULL FAM172A 83989 genome.wustl.edu 37 5 92956736 92956736 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_032042.5 -1 validated p.A403V 0.968 45 0% 83 43.4% 9 33.3% benign(0) tolerated(0.28) neutral(0.032) NULL ARSK 153642 genome.wustl.edu 37 5 94918775 94918775 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_198150.2 +1 validated p.A191V 0.914 112 0% 158 39.9% 5 80% possibly_damaging(0.869) deleterious(0.01) deleterious(0.743) HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core EPB41L4A 64097 genome.wustl.edu 37 5 111594987 111594987 + Missense_Mutation SNP G G T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_022140.3 -1 validated p.P245H 1.000 263 0% 292 39% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FERM_C,superfamily_PH domain-like PGGT1B 5229 genome.wustl.edu 37 5 114552603 114552603 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_005023.3 -1 validated p.R304H 1.000 139 0% 134 33.6% 14 50% benign(0.126) tolerated(0.1) neutral(0.297) HMMPfam_Prenyltrans,superfamily_Terpenoid cyclases/Protein prenyltransferases TMED7 51014 genome.wustl.edu 37 5 114961401 114961401 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_181836.5 -1 validated p.G30E 0.833 26 0% 33 60.6% 37 32.4% probably_damaging(0.996) tolerated(1) neutral(0.462) NULL SNX2 6643 genome.wustl.edu 37 5 122110805 122110805 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_003100.2 +1 reviewed p.A3T 1.000 28 0% 59 52.5% 26 42.3% possibly_damaging(0.842) deleterious(0.02) deleterious(0.705) HMMPfam_Sorting_nexin BRD8 10902 genome.wustl.edu 37 5 137498838 137498838 + Missense_Mutation SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_139199.1 -1 reviewed p.S690G 1.000 333 0% 383 43.9% 53 39.6% probably_damaging(0.993) deleterious(0.01) deleterious(0.856) superfamily_Bromodomain KDM3B 51780 genome.wustl.edu 37 5 137726779 137726779 + Silent SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_016604.3 +1 validated p.G486 1.000 80 0% 96 44.8% 5 20% - - - NULL SLC35A4 113829 genome.wustl.edu 37 5 139947773 139947773 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000432254 +1 known p.G161 0.000 16 0% 19 57.9% 148 36.4% - - - NULL PCDHA6 56142 genome.wustl.edu 37 5 140209300 140209300 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_018909.2 +1 reviewed p.V542M 0.001 38 0% 55 41.8% 0 - benign(0.028) tolerated(0.08) neutral(0.301) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHAC1 56135 genome.wustl.edu 37 5 140308215 140308215 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_018898.3 +1 reviewed p.V580I 1.000 203 0% 217 46.1% 0 - benign(0.429) deleterious(0.04) deleterious(0.488) HMMPfam_Cadherin,superfamily_Cadherin-like PCDHB5 26167 genome.wustl.edu 37 5 140516879 140516879 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_015669.2 +1 reviewed p.G621 0.997 24 0% 30 50% 2 0% - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHGB1 56104 genome.wustl.edu 37 5 140732027 140732027 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_018922.2 +1 reviewed p.G734R 0.000 100 0% 109 46.8% 0 - benign(0.004) tolerated(0.36) neutral(0.020) NULL PCDHGB3 56102 genome.wustl.edu 37 5 140751712 140751712 + Missense_Mutation SNP C C A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_018924.2 +1 reviewed p.P584H 0.821 33 0% 64 12.5% 2 0% - - - HMMPfam_Cadherin,superfamily_Cadherin-like PCDH1 5097 genome.wustl.edu 37 5 141244173 141244173 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_032420.2 -1 reviewed p.R575W 0.890 97 0% 110 50% 29 72.4% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDH1 5097 genome.wustl.edu 37 5 141248964 141248964 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_032420.2 -1 reviewed p.H25Y 0.958 46 0% 41 36.6% 13 69.2% unknown(0) tolerated(0.25) - NULL PPP2R2B 5521 genome.wustl.edu 37 5 145969654 145969654 + Silent SNP C C A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_181676.2 -1 reviewed p.G399 0.954 201 0% 237 43% 0 - - - - superfamily_WD40 repeat-like HTR4 3360 genome.wustl.edu 37 5 147928311 147928311 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001040173.2 -1 reviewed p.V91 1.000 237 0% 305 42% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 ANXA6 309 genome.wustl.edu 37 5 150481026 150481026 + Missense_Mutation SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001155.3 -1 reviewed p.C669R 1.000 93 0% 134 39.6% 27 22.2% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Annexin SLC36A2 153201 genome.wustl.edu 37 5 150718637 150718637 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_181776.2 -1 validated p.A170V 1.000 259 0% 268 40.7% 0 - possibly_damaging(0.755) deleterious(0) deleterious(0.723) HMMPfam_Aa_trans GABRA6 2559 genome.wustl.edu 37 5 161117341 161117341 + Missense_Mutation SNP C C A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_000811.2 +1 reviewed p.P270T 1.000 128 0% 148 31.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore ODZ2 57451 genome.wustl.edu 37 5 167551947 167551947 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001122679.1 +1 inferred p.L701 1.000 183 0% 205 47.3% 0 - - - - superfamily_Concanavalin A-like lectins/glucanases ENSG00000233913 0 genome.wustl.edu 37 5 168043623 168043623 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000421908 +1 known p.V89 1.000 136 0% 194 38.1% 305 0% - - - HMMPfam_Ribosomal_L16,superfamily_Ribosomal protein L10e HRH2 3274 genome.wustl.edu 37 5 175110341 175110341 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001131055.1 +1 reviewed p.G35 0.998 217 0% 255 38.4% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 FGFR4 2264 genome.wustl.edu 37 5 176522551 176522551 + Missense_Mutation SNP G G T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_002011.3 +1 reviewed p.V550L 1.000 60 0% 87 36.8% 269 42.7% benign(0.328) deleterious(0) deleterious(0.547) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) ENSG00000245859 0 genome.wustl.edu 37 5 176910850 176910850 + RNA SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000499364 +1 novel NULL 0.000 81 0% 73 46.6% 0 - - - - - DOK3 79930 genome.wustl.edu 37 5 176936548 176936548 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_024872.2 -1 validated p.A54 0.000 117 0% 153 41.2% 5 80% - - - NULL COL23A1 91522 genome.wustl.edu 37 5 177681993 177681993 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_173465.3 -1 validated p.T306I 0.979 191 0% 224 44.6% 1 0% probably_damaging(0.995) deleterious(0.04) deleterious(0.806) NULL LOC100289470 100289470 genome.wustl.edu 37 5 178949688 178949690 + In_Frame_Del DEL GAG GAG - novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 XM_002342585.1 +1 model p.E70in_frame_del 0.000:0.001:0.000 - - - - - - - - - NULL MGAT1 4245 genome.wustl.edu 37 5 180219397 180219397 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001114617.1 -1 reviewed p.A192V 0.995 32 0% 65 61.5% 135 38.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GNT-I,superfamily_SSF53448 NRN1 51299 genome.wustl.edu 37 6 6002687 6002687 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_016588.2 -1 reviewed p.A33 0.982 123 0% 121 32.2% 2 50% - - - NULL RREB1 6239 genome.wustl.edu 37 6 7230370 7230370 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001003699.3 +1 reviewed p.A680T 1.000 36 0% 45 53.3% 25 32% probably_damaging(0.999) tolerated(0.15) deleterious(0.732) HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 EDN1 1906 genome.wustl.edu 37 6 12294218 12294218 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001955.4 +1 reviewed p.A93V 1.000 55 0% 78 46.2% 3 66.6% benign(0.275) deleterious(0.02) neutral(0.412) NULL POM121L2 94026 genome.wustl.edu 37 6 27279451 27279451 + Missense_Mutation SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000444565 -1 known p.R167G 0.000 217 0% 214 46.7% 0 - benign(0.024) tolerated(0.21) neutral(0.045) NULL ZKSCAN4 387032 genome.wustl.edu 37 6 28219496 28219496 + Missense_Mutation SNP C C T rs144128934 by1000genomes TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_019110.3 -1 provisional p.S88N 1.000 81 0% 123 38.2% 3 33.3% unknown(0) deleterious(0.01) - HMMPfam_SCAN,HMMSmart_SCAN MDC1 9656 genome.wustl.edu 37 6 30673463 30673463 + Missense_Mutation SNP G G T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_014641.2 -1 reviewed p.P1166H 0.002 401 0% 567 49.4% 16 31.2% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL ITPR3 3710 genome.wustl.edu 37 6 33657158 33657158 + Missense_Mutation SNP C C A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_002224.2 +1 validated p.P2280T 1.000 132 0.8% 200 44.5% 269 44.2% benign(0.024) tolerated(0.07) neutral(0.320) NULL PI16 221476 genome.wustl.edu 37 6 36931624 36931624 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_153370.2 +1 validated p.S432 0.000 126 0% 177 45.8% 0 - - - - NULL MOCS1 4337 genome.wustl.edu 37 6 39895237 39895237 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_005943.5 -1 reviewed p.P27 0.000 122 0% 171 37.4% 0 - - - - NULL FRS3 10817 genome.wustl.edu 37 6 41743247 41743247 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_006653.3 -1 reviewed p.V55I 0.991 138 0.7% 158 41.1% 9 44.4% possibly_damaging(0.646) tolerated(0.23) neutral(0.268) HMMPfam_IRS,HMMSmart_PTBI,superfamily_SSF50729 C6orf132 647024 genome.wustl.edu 37 6 42073716 42073716 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000341865 -1 known p.A645V 0.001 578 0% 976 45.5% 3 33.3% benign(0.002) tolerated(0.95) - NULL POLH 5429 genome.wustl.edu 37 6 43578342 43578342 + Missense_Mutation SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_006502.2 +1 reviewed p.K376E 0.989 128 0% 156 48.7% 12 50% benign(0) tolerated(0.89) - HMMPfam_IMS TCTE1 202500 genome.wustl.edu 37 6 44253875 44253875 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_182539.3 -1 validated p.T224 0.099 87 0% 118 49.2% 0 - - - - superfamily_SSF52047 FAM83B 222584 genome.wustl.edu 37 6 54806700 54806700 + Silent SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001010872.1 +1 validated p.P977 0.001 68 0% 77 51.9% 1 100% - - - NULL C6orf221 154288 genome.wustl.edu 37 6 74072932 74072932 + Missense_Mutation SNP A A C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001017361.2 +1 validated p.Y95S 0.613 55 1.8% 104 54.8% 0 - possibly_damaging(0.45) deleterious(0.03) deleterious(0.512) NULL IMPG1 3617 genome.wustl.edu 37 6 76713605 76713605 + Missense_Mutation SNP C C A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001563.2 -1 provisional p.A400S 0.000 164 0% 199 39.7% 0 - benign(0.008) tolerated(0.29) neutral(0.029) NULL PHIP 55023 genome.wustl.edu 37 6 79650975 79650975 + Missense_Mutation SNP A A C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_017934.5 -1 validated p.L1634R 1.000 66 0% 74 40.5% 8 25% benign(0.082) deleterious(0) neutral(0.451) NULL SPACA1 81833 genome.wustl.edu 37 6 88763710 88763710 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_030960.2 +1 reviewed p.T85 0.546 183 0% 218 45.4% 0 - - - - NULL MDN1 23195 genome.wustl.edu 37 6 90359894 90359894 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_014611.1 -1 provisional p.R5352Q 1.000 187 0% 183 43.7% 19 57.8% unknown(0) deleterious(0) - NULL MDN1 23195 genome.wustl.edu 37 6 90392858 90392858 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_014611.1 -1 provisional p.A4032V 0.000 118 0% 114 44.7% 3 33.3% benign(0.001) tolerated(0.19) neutral(0.050) NULL FAM26D 221301 genome.wustl.edu 37 6 116879135 116879135 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_153036.2 +1 validated p.A50T 0.962 176 0% 258 19.4% 0 - benign(0.078) tolerated(0.15) neutral(0.246) NULL TAAR9 134860 genome.wustl.edu 37 6 132859643 132859643 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_175057.3 +1 reviewed p.A72V 0.000 491 0.2% 625 46.7% 0 - benign(0.002) tolerated(0.1) neutral(0.286) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like MAP3K5 4217 genome.wustl.edu 37 6 136958468 136958468 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_005923.3 -1 reviewed p.L671 0.988 219 0% 246 42.7% 0 - - - - NULL UTRN 7402 genome.wustl.edu 37 6 145157505 145157505 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_007124.2 +1 reviewed p.P3298L 0.823 95 0% 108 40.7% 7 42.8% benign(0.114) tolerated(0.29) neutral(0.038) NULL MTRF1L 54516 genome.wustl.edu 37 6 153311075 153311075 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_019041.5 -1 validated p.Y366 1.000 204 0% 194 37.6% 4 25% - - - superfamily_Release factor (Pfam 00472) TIAM2 26230 genome.wustl.edu 37 6 155578127 155578130 + Frame_Shift_Del DEL GACA GACA - novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 GACA GACA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_012454.3 +1 reviewed p.D1660fs 0.992:1.000:1.000:1.000 - - - - - - - - - NULL TULP4 56995 genome.wustl.edu 37 6 158923060 158923060 + Missense_Mutation SNP G G T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_020245.3 +1 validated p.G789C 0.989 75 0% 89 49.4% 6 33.3% benign(0.013) deleterious(0) neutral(0.445) NULL UNC93A 54346 genome.wustl.edu 37 6 167709744 167709744 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_018974.3 +1 validated p.S165N 0.000 152 0% 204 44.1% 1 100% benign(0.001) tolerated(0.18) neutral(0.056) HMMPfam_DUF895,superfamily_MFS_gen_substrate_transporter WDR27 253769 genome.wustl.edu 37 6 170038633 170038633 + Splice_Site SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_182552.3 -1 validated e17+2 1.000 39 0% 50 56% 0 - - - - - PMS2 5395 genome.wustl.edu 37 7 6029583 6029583 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_000535.5 -1 reviewed p.C331Y 1.000 164 0% 195 39.5% 4 50% probably_damaging(0.998) tolerated(0.09) deleterious(0.771) HMMPfam_DNA_mis_repair,superfamily_Ribosomal protein S5 domain 2-like VWDE 221806 genome.wustl.edu 37 7 12400999 12400999 + Missense_Mutation SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001135924.1 -1 provisional p.Q1016R 1.000 120 0% 141 35.5% 0 - probably_damaging(0.994) tolerated(0.67) neutral(0.455) NULL SP4 6671 genome.wustl.edu 37 7 21516701 21516701 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000448246 +1 known p.S43N 0.997 103 0% 97 45.4% 3 66.6% unknown(0) - - NULL HOXA13 3209 genome.wustl.edu 37 7 27237888 27237888 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_000522.4 -1 reviewed p.V366I 1.000 474 0% 595 45.4% 0 - probably_damaging(0.999) tolerated(0.19) deleterious(0.540) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1 PDE1C 5137 genome.wustl.edu 37 7 31887643 31887643 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_005020.1 -1 provisional p.R307C 1.000 174 0% 193 34.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PDEase_I,HMMSmart_HDc,superfamily_SSF109604 ANLN 54443 genome.wustl.edu 37 7 36478837 36478837 + Missense_Mutation SNP G G T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_018685.2 +1 validated p.G970C 1.000 263 0% 284 45.4% 9 22.2% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL EPDR1 54749 genome.wustl.edu 37 7 37989841 37989841 + Missense_Mutation SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_017549.3 +1 reviewed p.Y293C 1.000 127 0% 124 44.4% 2 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Ependymin ABCA13 154664 genome.wustl.edu 37 7 48407496 48407496 + Missense_Mutation SNP G G T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_152701.3 +1 reviewed p.Q3598H 1.000 302 0% 313 42.8% 0 - benign(0.386) - - NULL VWC2 375567 genome.wustl.edu 37 7 49815575 49815575 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_198570.3 +1 reviewed p.E182K 0.999 38 0% 35 54.3% 0 - probably_damaging(0.972) tolerated(0.1) deleterious(0.700) HMMSmart_VWC WBSCR17 64409 genome.wustl.edu 37 7 71130575 71130575 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_022479.1 +1 reviewed p.P420 0.000 86 2.3% 110 47.3% 0 - - - - superfamily_Nucleotide-diphospho-sugar transferases ELN 2006 genome.wustl.edu 37 7 73467623 73467623 + Silent SNP A A C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_000501.2 +1 reviewed p.P360 0.376 208 0% 273 45.4% 5 0% - - - NULL YWHAG 7532 genome.wustl.edu 37 7 75959468 75959468 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_012479.3 -1 reviewed p.R57H 1.000 160 0% 232 46.6% 105 32.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_14-3-3,HMMSmart_SM00101,superfamily_14-3-3 protein PCLO 27445 genome.wustl.edu 37 7 82586001 82586001 + Missense_Mutation SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_033026.5 -1 validated p.Q1423R 1.000 333 0.3% 371 36.4% 0 - possibly_damaging(0.891) - - NULL SEMA3D 223117 genome.wustl.edu 37 7 84697547 84697547 + Silent SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_152754.2 -1 validated p.C183 1.000 230 0% 243 48.1% 0 - - - - HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema KIAA1324L 222223 genome.wustl.edu 37 7 86577053 86577053 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001142749.2 -1 validated p.G166S 1.000 133 0% 146 39.7% 3 100% benign(0) tolerated(1) - superfamily_Growth factor receptor domain CROT 54677 genome.wustl.edu 37 7 87011734 87011734 + Silent SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001143935.1 +1 reviewed p.S420 1.000 190 0% 214 44.4% 4 25% - - - HMMPfam_Carn_acyltransf,superfamily_CoA-dependent acyltransferases TECPR1 25851 genome.wustl.edu 37 7 97862160 97862160 + Missense_Mutation SNP G G T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_015395.1 -1 provisional p.H599Q 1.000 69 0% 70 40% 2 100% probably_damaging(0.996) tolerated(0.68) neutral(0.464) NULL TECPR1 25851 genome.wustl.edu 37 7 97870551 97870551 + Nonsense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_015395.1 -1 provisional p.W221* 1.000 34 0% 38 21.1% 4 25% - - - HMMPfam_Hyd_WA,HMMSmart_SM00706 COPS6 10980 genome.wustl.edu 37 7 99688214 99688214 + Splice_Site SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_006833.4 +1 reviewed e5-1 1.000 286 0% 391 39.9% 3 0% - - - - GNB2 2783 genome.wustl.edu 37 7 100274423 100274424 + Splice_Site DEL GT GT - rs138290543 by1000genomes TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 GT GT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_005273.3 +1 reviewed e3+1 1.000:1.000 - - - - - - - - - - GIGYF1 64599 genome.wustl.edu 37 7 100283803 100283803 + Missense_Mutation SNP C C A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_022574.4 -1 validated p.K316N 1.000 82 0% 101 42.6% 15 53.3% possibly_damaging(0.85) deleterious(0) deleterious(0.772) NULL ZNHIT1 10467 genome.wustl.edu 37 7 100865998 100865998 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_006349.2 +1 validated p.A46T 0.955 64 0% 61 45.9% 171 46.1% possibly_damaging(0.668) deleterious(0.01) deleterious(0.642) NULL CLDN15 24146 genome.wustl.edu 37 7 100880751 100880751 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_014343.2 -1 reviewed p.V38I 1.000 207 0% 266 41.4% 10 30% probably_damaging(0.966) tolerated(0.31) neutral(0.435) HMMPfam_PMP22_Claudin NRCAM 4897 genome.wustl.edu 37 7 107872811 107872811 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001037132.1 -1 reviewed p.R129H 0.986 228 0% 336 44.3% 5 20% benign(0.007) tolerated(0.46) neutral(0.012) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin LRRN3 54674 genome.wustl.edu 37 7 110763789 110763789 + Nonsense_Mutation SNP A A T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001099658.1 +1 validated p.R321* 0.825 128 0% 133 43.6% 0 - - - - superfamily_L domain-like WEE2 494551 genome.wustl.edu 37 7 141424004 141424004 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001105558.1 +1 validated p.A384T 1.000 199 0% 210 46.7% 0 - benign(0.041) deleterious(0.02) neutral(0.386) superfamily_Kinase_like,HMMPfam_Pkinase TRBV6-1 28606 genome.wustl.edu 37 7 142028573 142028573 + Missense_Mutation SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000390353 +1 known p.S103P 0.107 117 0% 143 39.2% 0 - probably_damaging(0.963) deleterious(0.02) deleterious(0.788) HMMPfam_V-set,superfamily_SSF48726 FAM115C 285966 genome.wustl.edu 37 7 143421490 143421490 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001130025.1 +1 validated p.L735 0.353 187 0% 168 26.8% 0 - - - - NULL RARRES2 5919 genome.wustl.edu 37 7 150035812 150035812 + Nonsense_Mutation SNP C C A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_002889.3 -1 reviewed p.E132* 0.217 81 0% 84 48.8% 117 1.7% - - - NULL WDR86 349136 genome.wustl.edu 37 7 151093272 151093272 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_198285.2 -1 validated p.A106T 0.903 22 0% 20 40% 1 0% possibly_damaging(0.903) tolerated(0.3) neutral(0.387) HMMSmart_SM00320,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,HMMPfam_WD40 DLC1 10395 genome.wustl.edu 37 8 12952359 12952359 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_182643.2 -1 reviewed p.D1145 0.717 143 0% 164 44.5% 3 0% - - - HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP DOK2 9046 genome.wustl.edu 37 8 21767296 21767296 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_003974.2 -1 reviewed p.P255 0.092 183 0% 212 52.4% 0 - - - - NULL SORBS3 10174 genome.wustl.edu 37 8 22428561 22428561 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_005775.4 +1 validated p.G524S 0.001 31 0% 63 46% 246 50% benign(0.004) tolerated(0.45) neutral(0.012) superfamily_SH3-domain KCTD9 54793 genome.wustl.edu 37 8 25293759 25293759 + Nonsense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_017634.2 -1 validated p.R219* 1.000 277 0% 333 36.6% 11 0% - - - HMMPfam_Pentapeptide FGFR1 2260 genome.wustl.edu 37 8 38287368 38287368 + Missense_Mutation SNP T T A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_023110.2 -1 reviewed p.I64F 1.000 71 0% 57 45.6% 11 27.2% benign(0.029) deleterious(0.04) neutral(0.350) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin IDO1 3620 genome.wustl.edu 37 8 39781002 39781002 + Silent SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_002164.4 +1 validated p.V184 0.010 171 0% 233 43.3% 6 0% - - - HMMPfam_IDO NSMAF 8439 genome.wustl.edu 37 8 59500239 59500239 + Nonsense_Mutation SNP C C A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001144772.1 -1 reviewed p.E776* 1.000 242 0% 293 48.8% 13 7.6% - - - superfamily_WD40 repeat-like C8orf44 56260 genome.wustl.edu 37 8 67590033 67590033 + Missense_Mutation SNP C C G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_019607.1 +1 provisional p.F30L 0.006 123 0% 172 38.4% 14 50% benign(0.007) tolerated(0.21) neutral(0.044) NULL NBN 4683 genome.wustl.edu 37 8 90982637 90982637 + Missense_Mutation SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_002485.4 -1 reviewed p.D284G 0.187 210 0% 218 15.6% 27 7.4% benign(0.001) tolerated(0.08) neutral(0.300) NULL VPS13B 157680 genome.wustl.edu 37 8 100874128 100874128 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_017890.3 +1 reviewed p.G3748 0.997 46 0% 47 53.2% 3 0% - - - NULL UBR5 51366 genome.wustl.edu 37 8 103298683 103298683 + Missense_Mutation SNP G G T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_015902.4 -1 reviewed p.A1707D 1.000 307 0% 352 41.8% 11 0% possibly_damaging(0.722) tolerated(0.61) neutral(0.266) NULL CSMD3 114788 genome.wustl.edu 37 8 113317098 113317098 + Silent SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_198123.1 -1 validated p.R2706 1.000 156 0% 135 43% 0 - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain ENPP2 5168 genome.wustl.edu 37 8 120592383 120592383 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_006209.3 -1 reviewed p.R637W 1.000 274 0% 223 40.8% 3 0% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL ADCY8 114 genome.wustl.edu 37 8 132051639 132051639 + Missense_Mutation SNP G G A rs184754999 by1000genomes TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001115.2 -1 reviewed p.A314V 1.000 39 0% 45 40% 0 - benign(0) tolerated(0.26) neutral(0.034) NULL NDRG1 10397 genome.wustl.edu 37 8 134251150 134251150 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001135242.1 -1 reviewed p.G386R 0.994 32 0% 40 52.5% 219 37.8% possibly_damaging(0.455) tolerated(0.08) neutral(0.449) NULL ZFAT 57623 genome.wustl.edu 37 8 135614250 135614250 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_020863.3 -1 reviewed p.A571V 0.003 57 0% 52 11.5% 4 50% benign(0) tolerated(0.46) neutral(0.012) NULL FAM83H 286077 genome.wustl.edu 37 8 144812314 144812314 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_198488.3 -1 reviewed p.A147T 1.000 50 0% 73 37% 41 43.9% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_DUF1669,superfamily_Phospholipase D/nuclease C8orf33 65265 genome.wustl.edu 37 8 146278037 146278037 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_023080.2 +1 validated p.R24 0.002 84 0% 96 39.6% 30 56.6% - - - NULL NFIB 4781 genome.wustl.edu 37 9 14307309 14307309 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_005596.2 -1 validated p.R81C 1.000 328 0% 410 50.5% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MH1,HMMSmart_SM00523 C9orf93 203238 genome.wustl.edu 37 9 15729754 15729754 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_173550.2 +1 predicted p.L669 1.000 116 0% 95 49.5% 0 - - - - NULL ACER2 340485 genome.wustl.edu 37 9 19434994 19434994 + Missense_Mutation SNP C C A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001010887.2 +1 validated p.L139M 1.000 540 0% 772 47% 5 20% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_aPHC ENSG00000230729 0 genome.wustl.edu 37 9 34522395 34522396 + Splice_Site DEL GT GT - novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 GT GT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000439960 +1 known NULL 0.341:0.342 - - - - - - - - - - MELK 9833 genome.wustl.edu 37 9 36651775 36651775 + Silent SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_014791.2 +1 provisional p.L318 1.000 198 0% 263 41.1% 37 32.4% - - - NULL FAM122A 116224 genome.wustl.edu 37 9 71395911 71395911 + Silent SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_138333.3 +1 validated p.P277 0.985 198 0% 254 45.7% 11 63.6% - - - NULL TRPM6 140803 genome.wustl.edu 37 9 77397628 77397628 + Missense_Mutation SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_017662.4 -1 reviewed p.I1021V 1.000 266 0% 362 39.8% 0 - benign(0.155) tolerated(0.08) neutral(0.314) HMMPfam_Ion_trans PRUNE2 158471 genome.wustl.edu 37 9 79322528 79322528 + Silent SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000426088 -1 known p.S876G 0.164 187 0% 170 43.5% 0 - - - - NULL FRMD3 257019 genome.wustl.edu 37 9 85924529 85924529 + Missense_Mutation SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_174938.4 -1 validated p.M283T 1.000 117 0% 125 31.2% 1 0% benign(0) tolerated(0.76) neutral(0.001) HMMPfam_FERM_C,superfamily_PH domain-like FGD3 89846 genome.wustl.edu 37 9 95795191 95795191 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000416701 +1 known p.G607 0.000 53 0% 88 11.4% 0 - - - - superfamily_FYVE_PHD_ZnF WNK2 65268 genome.wustl.edu 37 9 96009908 96009908 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000432730 +1 known p.G538D 0.996 31 0% 41 39% 83 49.3% - - - superfamily_Protein kinase-like (PK-like) WNK2 65268 genome.wustl.edu 37 9 96021432 96021432 + Missense_Mutation SNP C C G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_006648.3 +1 reviewed p.P868A 0.719 37 0% 39 51.3% 86 38.3% unknown(0) tolerated(0.06) - NULL WNK2 65268 genome.wustl.edu 37 9 96051514 96051514 + Missense_Mutation SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_006648.3 +1 reviewed p.L1493S 0.000 24 0% 17 41.2% 130 39.2% probably_damaging(0.958) tolerated(0.25) neutral(0.439) NULL PTCH1 5727 genome.wustl.edu 37 9 98209484 98209484 + Missense_Mutation SNP G G T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_000264.3 -1 reviewed p.P1352T 1.000 12 0.000 7 0.714 8 37.5% benign(0.008) tolerated(0.23) neutral(0.042) NULL IKBKAP 8518 genome.wustl.edu 37 9 111642395 111642395 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_003640.3 -1 reviewed p.R1133C 0.994 431 0% 517 15.1% 26 7.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PALM2-AKAP2 445815 genome.wustl.edu 37 9 112899742 112899742 + Missense_Mutation SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_007203.4 +1 validated p.T640A 0.000 82 0% 104 46.2% 3 0% benign(0.003) tolerated(0.86) neutral(0.001) NULL SVEP1 79987 genome.wustl.edu 37 9 113197636 113197636 + Silent SNP T T C rs139569556 by1000genomes TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_153366.3 -1 validated p.S1591 0.003 215 0% 261 48.3% 0 - - - - HMMPfam_Pentaxin,HMMSmart_SM00159,superfamily_Concanavalin A-like lectins/glucanases RGS3 5998 genome.wustl.edu 37 9 116246421 116246421 + Missense_Mutation SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_144488.4 +1 reviewed p.S177P 1.000 77 0% 116 45.7% 20 55% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) AMBP 259 genome.wustl.edu 37 9 116823220 116823220 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001633.3 -1 reviewed p.G338S 0.992 76 0% 123 38.2% 58 15.5% possibly_damaging(0.822) deleterious(0.01) deleterious(0.717) HMMPfam_Kunitz_BPTI,HMMSmart_KU AMBP 259 genome.wustl.edu 37 9 116831979 116831979 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001633.3 -1 reviewed p.P201 0.098 110 0% 151 45.7% 37 13.5% - - - NULL ENSG00000221734 0 genome.wustl.edu 37 9 117554475 117554476 + RNA DEL GT GT - novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 GT GT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000408807 +1 novel NULL 0.007:0.006 - - - - - - - - - - CNTRL 11064 genome.wustl.edu 37 9 123935682 123935682 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_007018.4 +1 reviewed p.N2193 0.339 94 0% 71 40.8% 1 0% - - - NULL GPR21 2844 genome.wustl.edu 37 9 125797578 125797578 + Missense_Mutation SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_005294.1 +1 provisional p.C245R 0.984 106 0% 145 49% 0 - benign(0.002) tolerated(0.16) neutral(0.059) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like RABGAP1 23637 genome.wustl.edu 37 9 125827753 125827755 + In_Frame_Del DEL AAA AAA - rs3214358 TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 AAA AAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000447652 +1 known p.K576in_frame_del 0.000:0.000:0.013 - - - - - - - - - NULL PSMB7 5695 genome.wustl.edu 37 9 127115901 127115901 + Silent SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_002799.2 -1 reviewed p.T270 0.855 279 0.4% 372 46.5% 299 47.4% - - - NULL MAPKAP1 79109 genome.wustl.edu 37 9 128305364 128305364 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001006617.1 -1 reviewed p.R311Q 1.000 280 0% 332 42.2% 35 48.5% possibly_damaging(0.886) tolerated(0.26) neutral(0.380) HMMPfam_SIN1 ASB6 140459 genome.wustl.edu 37 9 132401691 132401691 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_017873.2 -1 reviewed p.R131Q 0.998 102 0% 177 38.4% 20 60% possibly_damaging(0.864) tolerated(0.22) neutral(0.377) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat POMT1 10585 genome.wustl.edu 37 9 134394258 134394258 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_007171.3 +1 reviewed p.R489Q 1.000 94 0% 120 39.2% 26 42.3% benign(0.04) tolerated(0.27) neutral(0.036) HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMSmart_SM00472 TSC1 7248 genome.wustl.edu 37 9 135771988 135771990 + In_Frame_Del DEL GCT GCT - novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 GCT GCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_000368.4 -1 reviewed p.S1043in_frame_del 0.921:0.998:1.000 - - - - - - - - - NULL TSC1 7248 genome.wustl.edu 37 9 135777991 135777991 + Splice_Site SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_000368.4 -1 reviewed e16+1 1.000 347 0% 494 44.3% 0 - - - - - C9orf96 169436 genome.wustl.edu 37 9 136268044 136268044 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_153710.3 +1 validated p.G459 0.003 45 0% 77 42.9% 0 - - - - superfamily_ARM repeat ADAMTS13 11093 genome.wustl.edu 37 9 136295131 136295131 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_139025.3 +1 reviewed p.A299 0.678 13 0% 21 28.6% 0 - - - - NULL SLC2A6 11182 genome.wustl.edu 37 9 136340602 136340602 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_017585.3 -1 validated p.R232W 0.001 32 0% 44 54.5% 1 0% probably_damaging(0.992) deleterious(0.01) deleterious(0.853) HMMPfam_Sugar_tr,superfamily_MFS_gen_substrate_transporter COL5A1 1289 genome.wustl.edu 37 9 137703225 137703225 + Missense_Mutation SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_000093.3 +1 reviewed p.Q1190R 1.000 126 0% 158 48.1% 10 0% unknown(0) tolerated(0.12) - HMMPfam_Collagen NOTCH1 4851 genome.wustl.edu 37 9 139399875 139399875 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_017617.3 -1 reviewed p.T1491 0.894 49 0% 59 50.8% 55 40% - - - HMMPfam_Notch,HMMSmart_NL,superfamily_Notch_region ITGA8 8516 genome.wustl.edu 37 10 15650256 15650256 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_003638.1 -1 provisional p.G529 0.997 202 0% 193 38.3% 1 0% - - - HMMPfam_Integrin_alpha2,superfamily_SSF69179 PDSS1 23590 genome.wustl.edu 37 10 27035267 27035267 + Missense_Mutation SNP T T A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_014317.3 +1 reviewed p.D371E 0.926 238 0% 233 47.6% 34 50% benign(0.248) deleterious(0.05) neutral(0.370) HMMPfam_polyprenyl_synt,superfamily_Terpenoid synthases PTCHD3 374308 genome.wustl.edu 37 10 27702916 27702916 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001034842.3 -1 validated p.P88 0.003 39 0% 59 25.4% 0 - - - - NULL MAP3K8 1326 genome.wustl.edu 37 10 30747080 30747080 + Missense_Mutation SNP G G C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_005204.2 +1 reviewed p.G314A 1.000 85 0% 109 44% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ENSG00000228637 0 genome.wustl.edu 37 10 42396342 42396343 + RNA INS - - A rs71240314 TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000439345 -1 novel NULL 0.000:0.000 - - - - - - - - - - SYT15 83849 genome.wustl.edu 37 10 46962096 46962096 + Silent SNP G G C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_031912.3 -1 reviewed p.G380 1.000 119 0% 161 23.6% 0 - - - - HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) SYT15 83849 genome.wustl.edu 37 10 46967504 46967504 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_031912.3 -1 reviewed p.P191 0.072 151 0% 221 22.2% 0 - - - - HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) GPRIN2 9721 genome.wustl.edu 37 10 47000086 47000086 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_014696.3 +1 validated p.V402 0.961 378 0.3% 444 21.6% 0 - - - - NULL GDF10 2662 genome.wustl.edu 37 10 48428982 48428982 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_004962.2 -1 reviewed p.E302K 1.000 21 0% 32 40.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL WDFY4 57705 genome.wustl.edu 37 10 50171962 50171962 + Missense_Mutation SNP C C G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_020945.1 +1 validated p.P2767A 0.306 179 0% 217 50.2% 0 - benign(0.119) deleterious(0.05) neutral(0.355) HMMPfam_Beach,superfamily_BEACH domain,superfamily_WD40 repeat-like CHAT 1103 genome.wustl.edu 37 10 50856579 50856579 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_020549.4 +1 reviewed p.C436 0.927 117 0% 119 42% 0 - - - - HMMPfam_Carn_acyltransf,PatternScan_ACYLTRANSF_C_2,superfamily_CoA-dependent acyltransferases AGAP6 414189 genome.wustl.edu 37 10 51769403 51769403 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001077665.2 +1 validated p.H506 1.000 171 0% 190 40.5% 30 33.3% - - - HMMPfam_ArfGap,HMMSmart_SM00105,superfamily_Pyk2-associated protein beta ARF-GAP domain ANK3 288 genome.wustl.edu 37 10 61840265 61840265 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000395293 -1 known p.T1113M 0.001 143 0% 173 36.4% 0 - possibly_damaging(0.938) deleterious(0) deleterious(0.828) NULL LRRTM3 347731 genome.wustl.edu 37 10 68687197 68687197 + Nonsense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_178011.3 +1 validated p.R175* 1.000 116 0% 146 45.2% 0 - - - - HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like NEUROG3 50674 genome.wustl.edu 37 10 71332239 71332239 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_020999.3 -1 reviewed p.S187 0.417 12 0% 11 54.5% 0 - - - - NULL DNAJC9 23234 genome.wustl.edu 37 10 75003192 75003194 + In_Frame_Del DEL CCT CCT - novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 CCT CCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_015190.3 -1 provisional p.G250in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL PPP3CB 5532 genome.wustl.edu 37 10 75239076 75239076 + Silent SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001142353.1 -1 validated p.T95 1.000 220 0% 240 12.9% 16 12.5% - - - HMMPfam_Metallophos,HMMSmart_PP2Ac,superfamily_SSF56300 KIAA0913 23053 genome.wustl.edu 37 10 75551989 75551989 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000433366 +1 known p.P287S 1.000 19 0% 22 45.5% 5 60% - - - NULL C10orf55 414236 genome.wustl.edu 37 10 75671992 75671992 + Missense_Mutation SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000409178 -1 known p.H4R 0.676 208 0% 247 46.6% 5 0% unknown(0) - - NULL KAT6B 23522 genome.wustl.edu 37 10 76735636 76735638 + In_Frame_Del DEL CTT CTT - novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_012330.2 +1 validated p.S516in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL ANXA11 311 genome.wustl.edu 37 10 81923112 81923113 + Frame_Shift_Del DEL TC TC - novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 TC TC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001157.2 -1 reviewed p.D360fs 1.000:1.000 - - - - - - - - - superfamily_Annexin,HMMPfam_Annexin TSPAN14 81619 genome.wustl.edu 37 10 82276001 82276001 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_030927.2 +1 validated p.C221 1.000 227 0% 221 50.2% 42 28.5% - - - superfamily_Tetraspanin,HMMPfam_Tetraspannin LRIT2 340745 genome.wustl.edu 37 10 85984607 85984607 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001017924.2 -1 validated p.A125V 0.991 121 0% 137 46.7% 0 - possibly_damaging(0.903) deleterious(0.04) deleterious(0.707) HMMPfam_LRR_1,superfamily_SSF52058 PTEN 5728 genome.wustl.edu 37 10 89692905 89692905 + Missense_Mutation SNP G G A rs121913292 TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000371953 +1 known p.R130Q 1.000 274 0% 343 38.8% 18 44.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DSPc,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II SLC16A12 387700 genome.wustl.edu 37 10 91192860 91192860 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_213606.3 -1 validated p.E474 0.000 133 0% 195 43.6% 0 - - - - NULL MYOF 26509 genome.wustl.edu 37 10 95111302 95111302 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_013451.3 -1 reviewed p.S1230 0.942 134 0% 173 47.4% 4 25% - - - HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) SLC35G1 159371 genome.wustl.edu 37 10 95660659 95660659 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001134658.1 +1 validated p.T170 0.003 200 0% 264 42% 3 33.3% - - - HMMPfam_DUF6,superfamily_Multidrug resistance efflux transporter EmrE DNMBP 23268 genome.wustl.edu 37 10 101639586 101639586 + Silent SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_015221.2 -1 validated p.S1510 0.000 107 0% 132 44.7% 52 51.9% - - - superfamily_SH3-domain DNMBP 23268 genome.wustl.edu 37 10 101654728 101654728 + Missense_Mutation SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_015221.2 -1 validated p.L1044P 1.000 126 0% 128 35.9% 30 40% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_BAR,HMMSmart_SM00721 TLX1 3195 genome.wustl.edu 37 10 102893975 102893975 + Splice_Site SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000467928 +1 known NULL 0.697 107 0% 163 46.6% 0 - - - - - PPRC1 23082 genome.wustl.edu 37 10 103908614 103908614 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_015062.3 +1 reviewed p.R1553H 0.989 226 0% 286 37.8% 40 55% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD GBF1 8729 genome.wustl.edu 37 10 104135324 104135324 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_004193.1 +1 provisional p.A1289V 0.773 78 0% 87 42.5% 60 40% benign(0) tolerated(0.61) neutral(0.004) NULL PDCD11 22984 genome.wustl.edu 37 10 105203756 105203756 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_014976.1 +1 validated p.R1737W 0.996 54 0% 59 35.6% 34 41.1% probably_damaging(0.994) deleterious(0.02) deleterious(0.835) HMMSmart_HAT,superfamily_SSF48452 CALHM2 51063 genome.wustl.edu 37 10 105207005 105207005 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_015916.4 -1 validated p.G292 1.000 63 0% 79 36.7% 4 25% - - - NULL CALHM2 51063 genome.wustl.edu 37 10 105209484 105209484 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_015916.4 -1 validated p.G72D 0.983 48 0% 48 31.2% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL COL17A1 1308 genome.wustl.edu 37 10 105800154 105800154 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_000494.3 -1 reviewed p.G906S 1.000 214 0% 278 36.7% 2 50% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Collagen WDR96 80217 genome.wustl.edu 37 10 105926425 105926425 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_025145.5 -1 provisional p.R954C 0.426 94 0% 128 50% 0 - possibly_damaging(0.937) tolerated(0.06) deleterious(0.706) superfamily_WD40 repeat-like C10orf46 143384 genome.wustl.edu 37 10 120514252 120514252 + Missense_Mutation SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_153810.4 -1 validated p.E8G 1.000 129 0% 175 44% 9 22.2% unknown(0) - - NULL INPP5F 22876 genome.wustl.edu 37 10 121565934 121565934 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_014937.2 +1 reviewed p.C461Y 1.000 419 0.2% 521 45.7% 5 40% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DPYSL4 10570 genome.wustl.edu 37 10 134006240 134006240 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_006426.2 +1 validated p.G69 0.024 95 0% 146 45.2% 4 0% - - - HMMPfam_Amidohydro_1,superfamily_Composite domain of metallo-dependent hydrolases,superfamily_Metallo-dependent hydrolases TUBGCP2 10844 genome.wustl.edu 37 10 135094787 135094787 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_006659.2 -1 validated p.V855I 1.000 71 0% 97 50.5% 150 40% benign(0) tolerated(0.51) neutral(0.009) NULL IFITM3 10410 genome.wustl.edu 37 11 320569 320569 + Missense_Mutation SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_021034.2 -1 validated p.V82A 0.995 102 0% 120 40.8% 301 0.9% benign(0.196) deleterious(0.04) neutral(0.367) HMMPfam_CD225 RASSF7 8045 genome.wustl.edu 37 11 562143 562144 + Frame_Shift_Del DEL AG AG - novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_003475.3 +1 validated p.E64fs 0.920:1.000 - - - - - - - - - HMMPfam_RA,HMMSmart_SM00314 HBB 3043 genome.wustl.edu 37 11 5246922 5246922 + Missense_Mutation SNP T T C rs111033582 TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_000518.4 -1 reviewed p.H117R 0.000 230 0% 256 44.5% 23 0% benign(0) tolerated(0.93) - superfamily_Globin-like OR52N2 390077 genome.wustl.edu 37 11 5842396 5842396 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001005174.1 +1 provisional p.I277 0.083 209 0% 214 49.5% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 ARFIP2 23647 genome.wustl.edu 37 11 6499012 6499012 + Missense_Mutation SNP C C A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_012402.2 -1 validated p.R269L 1.000 139 0% 162 50.6% 235 44.6% probably_damaging(0.977) deleterious(0.01) deleterious(0.825) HMMPfam_Arfaptin DNHD1 144132 genome.wustl.edu 37 11 6567862 6567862 + Missense_Mutation SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_144666.2 +1 provisional p.Q1898R 0.006 44 0% 48 41.7% 0 - benign(0.016) tolerated(0.14) neutral(0.250) NULL TUB 7275 genome.wustl.edu 37 11 8122496 8122496 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_003320.4 +1 reviewed p.V502I 1.000 187 0% 261 42.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Tub,superfamily_Tubby_C,PatternScan_TUB_1 CALCB 797 genome.wustl.edu 37 11 15096736 15096736 + Missense_Mutation SNP G G T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_000728.3 +1 validated p.Q72H 0.916 88 0% 87 37.9% 0 - benign(0.03) deleterious(0.02) neutral(0.385) NULL PLEKHA7 144100 genome.wustl.edu 37 11 16876466 16876466 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_175058.4 -1 validated p.P164 0.020 230 0% 300 42% 4 50% - - - superfamily_PH domain-like PIK3C2A 5286 genome.wustl.edu 37 11 17191179 17191179 + Missense_Mutation SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_002645.2 -1 validated p.E37G 1.000 385 0% 510 45.1% 5 60% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL NELL1 4745 genome.wustl.edu 37 11 20948958 20948958 + Silent SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_006157.3 +1 reviewed p.D288 0.827 208 0% 225 44.9% 0 - - - - HMMPfam_VWC,HMMSmart_SM00214,HMMSmart_SM00215 RAG1 5896 genome.wustl.edu 37 11 36595982 36595982 + Silent SNP C C A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_000448.2 +1 reviewed p.I376 0.272 33 3% 45 40% 0 - - - - HMMPfam_zf-RAG1 MAPK8IP1 9479 genome.wustl.edu 37 11 45924220 45924220 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_005456.2 +1 reviewed p.P301L 1.000 11 0% 20 50% 10 40% benign(0.062) deleterious(0) neutral(0.449) NULL LOC120824 120824 genome.wustl.edu 37 11 49003144 49003144 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 XM_062300.6 -1 model p.C35Y 1.000 67 0% 89 13.5% 0 - - - - HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_RING/U-box ZDHHC5 25921 genome.wustl.edu 37 11 57466520 57466520 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_015457.2 +1 validated p.R538C 0.998 84 0% 82 42.7% 96 48.9% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FAM111A 63901 genome.wustl.edu 37 11 58919767 58919767 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001142519.1 +1 validated p.R209H 0.000 235 0.4% 238 36.1% 18 61.1% benign(0.005) tolerated(0.2) neutral(0.049) NULL CD6 923 genome.wustl.edu 37 11 60739340 60739340 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_006725.3 +1 validated p.M1I 0.453 119 0% 153 39.2% 1 0% benign(0.278) deleterious(0) deleterious(0.475) NULL TUT1 64852 genome.wustl.edu 37 11 62346298 62346298 + Missense_Mutation SNP G G T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_022830.2 -1 reviewed p.L299I 0.918 243 0% 336 41.7% 20 45% benign(0.022) tolerated(0.51) neutral(0.010) NULL FKBP2 2286 genome.wustl.edu 37 11 64009974 64009974 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001135208.1 +1 reviewed p.V39M 1.000 90 0% 122 41.8% 228 42.9% probably_damaging(0.987) tolerated(0.08) deleterious(0.736) superfamily_FKBP-like RPS6KA4 8986 genome.wustl.edu 37 11 64127681 64127681 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_003942.2 +1 reviewed p.A58 0.363 11 0% 15 40% 41 46.3% unknown(0) - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase EHD1 10938 genome.wustl.edu 37 11 64627443 64627443 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_006795.2 -1 reviewed p.A290T 1.000 76 0% 95 45.3% 34 44.1% benign(0.195) tolerated(0.17) neutral(0.077) superfamily_P-loop containing nucleoside triphosphate hydrolases SPDYC 387778 genome.wustl.edu 37 11 64939991 64939991 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001008778.1 +1 provisional p.R144Q 0.000 206 0% 283 47.7% 0 - benign(0.059) tolerated(0.45) neutral(0.016) NULL SLC22A20 440044 genome.wustl.edu 37 11 64985099 64985099 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001004326.4 +1 validated p.C193 0.048 133 0% 196 43.4% 4 0% - - - superfamily_MFS general substrate transporter SNX32 254122 genome.wustl.edu 37 11 65617531 65617531 + Missense_Mutation SNP G G T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000435160 +1 known p.R94S 0.002 83 0% 89 57.3% 0 - - - - NULL SNX32 254122 genome.wustl.edu 37 11 65618804 65618804 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_152760.2 +1 validated p.A239T 1.000 99 0% 168 41.7% 0 - possibly_damaging(0.857) deleterious(0) deleterious(0.776) HMMPfam_Vps5 TBC1D10C 374403 genome.wustl.edu 37 11 67172912 67172912 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_198517.2 +1 provisional p.A99T 1.000 79 0% 87 44.8% 2 50% possibly_damaging(0.808) deleterious(0.02) deleterious(0.687) HMMPfam_TBC,HMMSmart_TBC,superfamily_RabGAP_TBC NADSYN1 55191 genome.wustl.edu 37 11 71184643 71184643 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_018161.4 +1 validated p.V193M 0.996 19 0% 34 47.1% 48 52% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_CN_hydrolase,superfamily_Carbon-nitrogen hydrolase P2RY2 5029 genome.wustl.edu 37 11 72945966 72945966 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_002564.2 +1 reviewed p.F254 0.932 115 0% 186 42.5% 1 100% - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like UCP3 7352 genome.wustl.edu 37 11 73717302 73717302 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_003356.3 -1 reviewed p.A83 0.970 49 0% 52 36.5% 2 50% - - - superfamily_Mitochondrial carrier,HMMPfam_Mito_carr MYO7A 4647 genome.wustl.edu 37 11 76905514 76905514 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_000260.3 +1 reviewed p.T1423M 0.993 139 0% 163 39.9% 2 50% possibly_damaging(0.938) tolerated(0.1) deleterious(0.670) superfamily_Second domain of FERM,HMMSmart_SM00295 ODZ4 26011 genome.wustl.edu 37 11 78523303 78523303 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001098816.2 -1 validated p.C614 1.000 182 0.5% 214 44.4% 0 - - - - HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2 KIAA1731 85459 genome.wustl.edu 37 11 93435624 93435624 + Splice_Site SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_033395.1 +1 validated e15-2 0.991 141 0% 151 41.7% 0 - - - - - DYNC2H1 79659 genome.wustl.edu 37 11 103075549 103075563 + Splice_Site DEL TTATATATTTCTTAG TTATATATTTCTTAG - novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 TTATATATTTCTTAG TTATATATTTCTTAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001080463.1 +1 reviewed e52-1 1.000:1.000 - - - - - - - - - - ZC3H12C 85463 genome.wustl.edu 37 11 110036032 110036032 + Missense_Mutation SNP G G T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_033390.1 +1 validated p.R741M 1.000 242 0% 280 42.9% 2 50% probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL USP2 9099 genome.wustl.edu 37 11 119230292 119230292 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_004205.4 -1 validated p.R302W 0.982 209 0% 227 41.9% 0 - possibly_damaging(0.936) deleterious(0.01) deleterious(0.787) HMMPfam_UCH,superfamily_Cysteine proteinases SNORD14E 85391 genome.wustl.edu 37 11 122928935 122928940 + RNA DEL AAAAAA AAAAAA - novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 AAAAAA AAAAAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NR_003125.2 -1 provisional NULL 0.000:0.000:0.000:0.000:0.000:0.000 - - - - - - - - - - GRAMD1B 57476 genome.wustl.edu 37 11 123448270 123448270 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_020716.1 +1 validated p.G73 0.081 36 0% 42 52.4% 0 - - - - NULL DDX25 29118 genome.wustl.edu 37 11 125778169 125778169 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_013264.3 +1 reviewed p.M130I 1.000 135 0% 169 37.3% 0 - benign(0.037) deleterious(0.01) neutral(0.408) HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases SRPR 6734 genome.wustl.edu 37 11 126135645 126135645 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_003139.3 -1 reviewed p.M375I 1.000 215 0% 282 42.9% 163 41.1% benign(0.004) tolerated(0.35) neutral(0.021) superfamily_SRP54 NTM 50863 genome.wustl.edu 37 11 132180039 132180039 + Missense_Mutation SNP G G T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001144058.1 +1 reviewed p.G232V 1.000 98 0% 114 54.4% 2 0% probably_damaging(0.998) deleterious(0.04) deleterious(0.823) superfamily_SSF48726 SPATA19 219938 genome.wustl.edu 37 11 133714155 133714155 + Missense_Mutation SNP C C A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_174927.1 -1 provisional p.Q115H 1.000 205 0.5% 225 38.2% 0 - possibly_damaging(0.647) deleterious(0) deleterious(0.671) NULL ACAD8 27034 genome.wustl.edu 37 11 134131678 134131678 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_014384.2 +1 reviewed p.A329V 0.992 232 0% 312 46.8% 29 55.1% possibly_damaging(0.502) deleterious(0) deleterious(0.612) HMMPfam_Acyl-CoA_dh_1,superfamily_AcylCoADH_C_like TSPAN9 10867 genome.wustl.edu 37 12 3390438 3390438 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_006675.4 +1 reviewed p.C169 1.000 37 0% 54 37% 18 44.4% - - - superfamily_Tetraspanin,HMMPfam_Tetraspannin LPCAT3 10162 genome.wustl.edu 37 12 7090789 7090790 + Frame_Shift_Ins INS - - A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_005768.5 -1 validated p.L155fs 1.000:1.000 - - - - - - - - - HMMPfam_MBOAT ZNF705A 440077 genome.wustl.edu 37 12 8327039 8327039 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001004328.2 +1 validated p.V44M 0.001 220 0% 265 21.1% 0 - probably_damaging(0.996) deleterious(0.02) deleterious(0.845) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box LST-3TM12 338821 genome.wustl.edu 37 12 21220287 21220287 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001009562.4 +1 validated p.G526S 0.569 246 0% 223 45.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_OATP,superfamily_MFS general substrate transporter ABCC9 10060 genome.wustl.edu 37 12 21971089 21971089 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_005691.2 -1 reviewed p.L1256F 1.000 149 0% 162 48.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain KIAA0528 9847 genome.wustl.edu 37 12 22676470 22676470 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_014802.1 -1 predicted p.G230 1.000 153 0% 190 33.2% 10 0% - - - NULL ITPR2 3709 genome.wustl.edu 37 12 26818947 26818947 + Missense_Mutation SNP C C A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_002223.2 -1 validated p.V483F 1.000 177 0% 217 42.4% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_RYDR_ITPR,superfamily_IP3 receptor type 1 binding core domain 2 DBX2 440097 genome.wustl.edu 37 12 45410403 45410403 + Splice_Site SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001004329.2 -1 validated e4-2 1.000 34 0% 46 47.8% 0 - - - - - ENSG00000249687 0 genome.wustl.edu 37 12 48133869 48133869 + RNA SNP G G T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000506659 +1 known NULL 0.000 41 0% 50 54% 1 100% - - - - FMNL3 91010 genome.wustl.edu 37 12 50045069 50045069 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_175736.4 -1 validated p.R560Q 1.000 128 0% 154 46.1% 2 0% benign(0.165) tolerated(0.09) neutral(0.311) superfamily_FH2_actin_bd KRT6A 3853 genome.wustl.edu 37 12 52884384 52884384 + Missense_Mutation SNP C C A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_005554.3 -1 reviewed p.R349L 0.999 413 0% 469 44.6% 96 0% probably_damaging(0.995) tolerated(0.06) deleterious(0.780) HMMPfam_Filament ZNF385A 25946 genome.wustl.edu 37 12 54778302 54778302 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001130967.1 -1 validated p.P19 0.997 114 0% 162 50% 0 - - - - NULL NCKAP1L 3071 genome.wustl.edu 37 12 54902264 54902264 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_005337.4 +1 reviewed p.R152Q 0.892 294 0% 387 35.1% 0 - possibly_damaging(0.495) deleterious(0.01) deleterious(0.571) HMMPfam_Nckap1 KIAA0748 9840 genome.wustl.edu 37 12 55368243 55368243 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001098815.1 -1 validated p.A35V 0.287 62 0% 85 48.2% 0 - benign(0.355) deleterious(0) deleterious(0.557) NULL NEUROD4 58158 genome.wustl.edu 37 12 55421198 55421198 + Silent SNP C C G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_021191.2 +1 validated p.L325 1.000 146 0% 145 44.8% 0 - - - - NULL OR6C75 390323 genome.wustl.edu 37 12 55759757 55759758 + Frame_Shift_Del DEL AC AC - novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 AC AC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001005497.1 +1 provisional p.L290fs 0.998:0.013 - - - - - - - - - superfamily_SSF81321 SMARCC2 6601 genome.wustl.edu 37 12 56558358 56558358 + Silent SNP A A G rs71660257 TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_003075.3 -1 reviewed p.F1099 0.998 357 0.3% 481 41.2% 94 52.1% - - - NULL MBD6 114785 genome.wustl.edu 37 12 57922098 57922098 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_052897.3 +1 validated p.R859W 1.000 40 0% 31 41.9% 15 53.3% probably_damaging(1) - - NULL SRGAP1 57522 genome.wustl.edu 37 12 64521714 64521714 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_020762.2 +1 validated p.H872Y 1.000 199 0% 210 40% 2 50% benign(0) tolerated(0.12) neutral(0.261) superfamily_SH3-domain TRHDE 29953 genome.wustl.edu 37 12 72666725 72666725 + Missense_Mutation SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_013381.2 +1 reviewed p.M56T 1.000 13 0.000 9 0.667 0 - benign(0.027) tolerated(0.21) neutral(0.045) NULL GLIPR1 11010 genome.wustl.edu 37 12 75875617 75875617 + Missense_Mutation SNP T T A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_006851.2 +1 reviewed p.W60R 1.000 109 0% 128 45.3% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SCP,HMMPfam_SCP,superfamily_SCP-like_extracellular PHLDA1 22822 genome.wustl.edu 37 12 76425182 76425182 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_007350.3 -1 reviewed p.A114T 1.000 12 0% 25 60% 4 0% probably_damaging(0.959) deleterious(0) deleterious(0.847) NULL CEP290 80184 genome.wustl.edu 37 12 88447509 88447509 + Missense_Mutation SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_025114.3 -1 reviewed p.Q2350R 0.912 294 0% 305 45.2% 8 62.5% benign(0) tolerated(0.36) neutral(0.020) NULL DCN 1634 genome.wustl.edu 37 12 91539835 91539838 + Frame_Shift_Del DEL TTAC TTAC - novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 TTAC TTAC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001920.3 -1 reviewed p.K359fs 0.310:0.994:1.000:1.000 - - - - - - - - - NULL FGD6 55785 genome.wustl.edu 37 12 95604317 95604317 + Missense_Mutation SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_018351.3 -1 validated p.D248G 0.261 79 0% 82 15.9% 1 0% benign(0.003) deleterious(0) neutral(0.445) NULL METAP2 10988 genome.wustl.edu 37 12 95906658 95906658 + Missense_Mutation SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_006838.3 +1 reviewed p.M384V 1.000 173 0% 260 44.6% 62 41.9% possibly_damaging(0.932) tolerated(0.06) deleterious(0.701) "HMMPfam_Peptidase_M24,superfamily_Creatinase/aminopeptidase,superfamily_""Winged helix"" DNA-binding domain" ANKS1B 56899 genome.wustl.edu 37 12 99174976 99174976 + Silent SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_152788.3 -1 validated p.S1095 1.000 112 0% 99 41.4% 0 - - - - HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like HCFC2 29915 genome.wustl.edu 37 12 104481818 104481818 + Splice_Site SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_013320.2 +1 reviewed e9+2 1.000 131 0% 133 41.4% 0 - - - - - BTBD11 121551 genome.wustl.edu 37 12 108013802 108013802 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001018072.1 +1 validated p.R831Q 1.000 107 0% 157 56.1% 1 0% possibly_damaging(0.947) tolerated(0.12) deleterious(0.651) NULL MYO1H 283446 genome.wustl.edu 37 12 109845636 109845636 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001101421.3 +1 provisional p.A342V 0.999 205 0% 294 51.7% 0 - benign(0.33) deleterious(0) deleterious(0.548) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases NAA25 80018 genome.wustl.edu 37 12 112481611 112481611 + Nonsense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_024953.3 -1 reviewed p.R690* 1.000 66 0% 88 39.8% 5 0% - - - NULL OAS1 4938 genome.wustl.edu 37 12 113355426 113355426 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001032409.1 +1 reviewed p.A320V 0.011 175 0% 225 41.3% 2 0% benign(0.228) deleterious(0.01) neutral(0.428) HMMPfam_OAS1_C,superfamily_PAP/OAS1 substrate-binding domain TPCN1 53373 genome.wustl.edu 37 12 113726051 113726051 + Missense_Mutation SNP C C A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000428632 +1 known p.P573H 0.001 68 0% 82 40.2% 1 100% - - - NULL RBM19 9904 genome.wustl.edu 37 12 114397898 114397898 + Missense_Mutation SNP G G T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_016196.3 -1 reviewed p.P102H 0.737 605 0% 775 27.6% 4 0% possibly_damaging(0.716) tolerated(0.13) deleterious(0.512) NULL KSR2 283455 genome.wustl.edu 37 12 118198856 118198856 + Missense_Mutation SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_173598.4 -1 validated p.F287L 1.000 73 0% 82 53.7% 0 - possibly_damaging(0.509) tolerated(0.32) neutral(0.195) NULL KSR2 283455 genome.wustl.edu 37 12 118199132 118199132 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_173598.4 -1 validated p.V195M 0.987 35 0% 54 40.7% 0 - possibly_damaging(0.934) tolerated(0.07) deleterious(0.699) NULL CIT 11113 genome.wustl.edu 37 12 120241040 120241040 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_007174.1 -1 validated p.S422N 1.000 148 0% 212 44.8% 3 66.6% benign(0.062) tolerated(0.22) neutral(0.046) HMMSmart_SM00133,HMMPfam_Pkinase_C GCN1L1 10985 genome.wustl.edu 37 12 120572449 120572449 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_006836.1 -1 validated p.R2364C 1.000 94 0% 159 43.4% 62 53.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HEAT,superfamily_ARM repeat OASL 8638 genome.wustl.edu 37 12 121461904 121461904 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_198213.1 -1 validated p.R232C 0.892 195 0% 238 53.4% 1 0% possibly_damaging(0.737) deleterious(0.01) deleterious(0.675) HMMPfam_OAS1_C SBNO1 55206 genome.wustl.edu 37 12 123789193 123789193 + Missense_Mutation SNP C C T rs76042452 TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_018183.3 -1 validated p.R1234Q 1.000 84 0% 89 29.2% 8 50% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL DNAH10 196385 genome.wustl.edu 37 12 124414988 124414988 + Missense_Mutation SNP C C A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_207437.3 +1 validated p.R4100S 0.998 172 0% 184 47.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Dynein_heavy NCOR2 9612 genome.wustl.edu 37 12 124839425 124839425 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_006312.3 -1 validated p.V1155I 0.644 145 0% 150 47.3% 25 56% benign(0.003) tolerated(1) - NULL TMEM132C 92293 genome.wustl.edu 37 12 128899736 128899736 + Missense_Mutation SNP G G T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001136103.2 +1 provisional p.R70L 0.945 44 0% 70 38.6% 0 - probably_damaging(0.958) tolerated(0.05) deleterious(0.747) NULL FZD10 11211 genome.wustl.edu 37 12 130649128 130649128 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_007197.2 +1 reviewed p.P547 0.194 47 0% 67 41.8% 2 0% - - - NULL EP400NL 347918 genome.wustl.edu 37 12 132589027 132589027 + Frame_Shift_Del DEL C C - novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000376625 +1 known p.P155fs 1.000 - - - - - - - - - NULL GJA3 2700 genome.wustl.edu 37 13 20717089 20717091 + In_Frame_Del DEL CTC CTC - novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_021954.3 -1 reviewed p.E113in_frame_del 0.426:0.666:0.914 - - - - - - - - - HMMPfam_Connexin XPO4 64328 genome.wustl.edu 37 13 21396313 21396313 + Missense_Mutation SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_022459.4 -1 validated p.Y319C 1.000 180 0% 203 53.2% 5 80% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM-type_fold XPO4 64328 genome.wustl.edu 37 13 21417087 21417087 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_022459.4 -1 validated p.R225H 1.000 132 0% 146 10.3% 2 0% benign(0.342) tolerated(0.19) neutral(0.158) superfamily_ARM-type_fold ATP8A2 51761 genome.wustl.edu 37 13 26145814 26145814 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_016529.4 +1 validated p.S549L 0.998 193 0% 219 34.7% 0 - benign(0.027) tolerated(0.2) neutral(0.051) superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N CDK8 1024 genome.wustl.edu 37 13 26911752 26911752 + Silent SNP C C A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001260.1 +1 reviewed p.I59 1.000 127 0% 168 36.3% 3 66.6% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase MTUS2 23281 genome.wustl.edu 37 13 30077204 30077204 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001033602.2 +1 validated p.R1334Q 1.000 151 0% 201 30.3% 0 - probably_damaging(1) tolerated(0.23) deleterious(0.541) NULL FRY 10129 genome.wustl.edu 37 13 32745382 32745382 + Missense_Mutation SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_023037.2 +1 validated p.Q709R 0.979 119 0% 151 40.4% 2 0% benign(0.018) tolerated(0.14) neutral(0.250) NULL COG3 83548 genome.wustl.edu 37 13 46103985 46103985 + Missense_Mutation SNP A A C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_031431.2 +1 reviewed p.T764P 0.998 195 5.1% 256 45.7% 9 11.1% probably_damaging(0.976) deleterious(0.02) deleterious(0.801) NULL ZC3H13 23091 genome.wustl.edu 37 13 46554140 46554140 + Splice_Site SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_015070.3 -1 validated e10-1 1.000 138 0% 167 44.3% 0 - - - - - SERPINE3 647174 genome.wustl.edu 37 13 51935954 51935954 + Silent SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001101320.1 +1 validated p.L366 1.000 102 0% 119 39.5% 2 50% - - - HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins NEK3 4752 genome.wustl.edu 37 13 52718845 52718845 + Missense_Mutation SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000258597 -1 known p.Q262R 0.000 133 0% 176 47.7% 7 71.4% benign(0) tolerated(0.61) neutral(0.004) superfamily_Protein kinase-like (PK-like) PCDH17 27253 genome.wustl.edu 37 13 58207415 58207415 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001040429.2 +1 reviewed p.A245 0.147 23 0% 27 70.4% 2 0% - - - superfamily_Cadherin-like CLDN10 9071 genome.wustl.edu 37 13 96205184 96205184 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_006984.4 +1 reviewed p.G59 0.707 49 0% 69 39.1% 0 - - - - HMMPfam_PMP22_Claudin,PatternScan_CLAUDIN MBNL2 10150 genome.wustl.edu 37 13 97999308 97999308 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_144778.2 +1 reviewed p.A264V 1.000 20 0% 10 70% 1 0% benign(0.034) tolerated(0.17) neutral(0.061) NULL DCUN1D2 55208 genome.wustl.edu 37 13 114128506 114128506 + Silent SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000438545 -1 known p.Q209R 0.000 211 0% 280 37.9% 3 33.3% - - - HMMPfam_DUF298 CHAMP1 283489 genome.wustl.edu 37 13 115089548 115089548 + Silent SNP A A T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_032436.2 +1 validated p.V77 0.107 163 0% 214 54.2% 12 83.3% - - - HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LRP10 26020 genome.wustl.edu 37 14 23341526 23341527 + In_Frame_Ins INS - - CCT novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_014045.3 +1 validated p.9in_frame_insL 0.003:0.719 - - - - - - - - - NULL DHRS1 115817 genome.wustl.edu 37 14 24761467 24761467 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001136050.2 -1 reviewed p.P193S 1.000 123 0% 138 46.4% 28 50% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_NAD(P)-bd FOXG1 2290 genome.wustl.edu 37 14 29237818 29237818 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_005249.3 +1 reviewed p.P445S 1.000 128 0% 142 43% 1 100% benign(0.01) tolerated(0.05) neutral(0.346) NULL RALGAPA1 253959 genome.wustl.edu 37 14 36133930 36133930 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_194301.2 -1 provisional p.C1243Y 1.000 205 0% 183 37.2% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL MIPOL1 145282 genome.wustl.edu 37 14 38016136 38016136 + Missense_Mutation SNP G G T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_138731.5 +1 validated p.R430M 1.000 348 0% 390 40.8% 5 60% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL PNN 5411 genome.wustl.edu 37 14 39644568 39644568 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_002687.3 +1 validated p.L29F 1.000 119 0% 126 46.8% 81 53% probably_damaging(0.962) deleterious(0.01) deleterious(0.810) HMMPfam_Pinin_SDK_N FSCB 84075 genome.wustl.edu 37 14 44976181 44976181 + Missense_Mutation SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_032135.3 -1 validated p.K4E 1.000 503 0% 589 37.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL FANCM 57697 genome.wustl.edu 37 14 45658539 45658540 + Frame_Shift_Del DEL TG TG - novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_020937.2 +1 reviewed p.C1772fs 0.022:0.000 - - - - - - - - - NULL DNAAF2 55172 genome.wustl.edu 37 14 50101129 50101129 + Nonsense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_018139.2 -1 reviewed p.Q247* 0.000 3 0.000 8 0.875 1 0% - - - HMMPfam_PIH1 MAP4K5 11183 genome.wustl.edu 37 14 50929418 50929418 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_006575.3 -1 reviewed p.A301T 0.998 421 0% 547 34.9% 9 22.2% benign(0) tolerated(0.39) neutral(0.016) superfamily_Protein kinase-like (PK-like) PSMC6 5706 genome.wustl.edu 37 14 53184803 53184803 + Frame_Shift_Del DEL G G - novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_002806.3 +1 reviewed p.G193fs 0.998 - - - - - - - - - HMMSmart_SM00382,HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases DDHD1 80821 genome.wustl.edu 37 14 53619480 53619481 + In_Frame_Ins INS - - GCCGCC novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_030637.2 -1 validated p.112in_frame_insGG 0.234:0.997 - - - - - - - - - NULL SLC35F4 341880 genome.wustl.edu 37 14 58030931 58030931 + Silent SNP C C A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001080455.1 -1 provisional p.V496 0.031 208 0% 268 39.9% 0 - - - - NULL DAAM1 23002 genome.wustl.edu 37 14 59793361 59793361 + Silent SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_014992.1 +1 reviewed p.V436 0.986 73 0% 101 50.5% 5 80% - - - HMMPfam_Drf_FH3 GPR135 64582 genome.wustl.edu 37 14 59930560 59930560 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_022571.5 -1 validated p.R462H 0.999 63 0% 76 40.8% 1 0% probably_damaging(0.998) tolerated(0.12) deleterious(0.735) NULL C14orf39 317761 genome.wustl.edu 37 14 60908849 60908849 + Missense_Mutation SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_174978.2 -1 validated p.F502L 0.965 76 0% 88 50% 0 - unknown(0) deleterious(0) - NULL PAPLN 89932 genome.wustl.edu 37 14 73729220 73729220 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_173462.3 +1 validated p.S776N 0.357 70 0% 81 51.9% 1 100% benign(0.119) deleterious(0.02) neutral(0.393) HMMPfam_Kunitz_BPTI,HMMSmart_KU,superfamily_Prot_inh_Kunz-m VRTN 55237 genome.wustl.edu 37 14 74824657 74824657 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_018228.2 +1 validated p.A391T 0.002 101 0% 157 51% 0 - benign(0) tolerated(0.19) neutral(0.050) NULL VRTN 55237 genome.wustl.edu 37 14 74825510 74825510 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_018228.2 +1 validated p.S675N 0.993 72 0% 113 46% 0 - possibly_damaging(0.713) tolerated(0.31) neutral(0.285) NULL YLPM1 56252 genome.wustl.edu 37 14 75247215 75247215 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_019589.2 +1 validated p.M406I 1.000 251 0% 340 41.8% 5 40% unknown(0) deleterious(0) - NULL TMED8 283578 genome.wustl.edu 37 14 77808156 77808156 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_213601.1 -1 provisional p.L312 0.149 185 0% 225 46.2% 4 100% - - - superfamily_SSF101576 HHIPL1 84439 genome.wustl.edu 37 14 100134578 100134578 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001127258.1 +1 validated p.S556 0.460 133 0% 147 38.8% 0 - - - - NULL CDC42BPB 9578 genome.wustl.edu 37 14 103436534 103436534 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_006035.3 -1 reviewed p.S650N 0.999 130 0% 213 46.9% 38 39.4% probably_damaging(0.998) tolerated(0.1) deleterious(0.761) NULL ASPG 374569 genome.wustl.edu 37 14 104569947 104569947 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001080464.1 +1 provisional p.V230M 1.000 61 0% 66 56.1% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_Asparaginase,superfamily_Glutaminase/Asparaginase BRF1 2972 genome.wustl.edu 37 14 105677630 105677630 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001519.2 -1 reviewed p.A609T 0.023 27 0% 36 38.9% 38 42.1% benign(0) tolerated(0.27) neutral(0.034) NULL NDN 4692 genome.wustl.edu 37 15 23932103 23932103 + Missense_Mutation SNP G G T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_002487.2 -1 reviewed p.P88T 0.661 15 0% 12 41.7% 1 0% benign(0.104) tolerated(0.08) neutral(0.308) NULL OIP5 11339 genome.wustl.edu 37 15 41624643 41624643 + Nonsense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_007280.1 -1 provisional p.W39* 1.000 98 0% 98 38.8% 25 52% - - - NULL EPB42 2038 genome.wustl.edu 37 15 43489583 43489583 + Missense_Mutation SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_000119.2 -1 reviewed p.T695A 0.995 259 0% 360 48.1% 1 0% benign(0.32) tolerated(0.3) neutral(0.129) HMMPfam_Transglut_C,superfamily_Transglut_C TGM7 116179 genome.wustl.edu 37 15 43579631 43579631 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_052955.2 -1 validated p.V238M 1.000 193 0% 234 44.4% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF54001 AP4E1 23431 genome.wustl.edu 37 15 51233923 51233923 + Missense_Mutation SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_007347.3 +1 validated p.M376T 1.000 335 0% 380 41.3% 1 0% possibly_damaging(0.455) tolerated(0.08) neutral(0.449) HMMPfam_Adaptin_N,superfamily_ARM-type_fold MYO5C 55930 genome.wustl.edu 37 15 52539171 52539171 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_018728.2 -1 validated p.A641V 1.000 246 0% 291 44% 15 20% benign(0.115) deleterious(0.01) neutral(0.415) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases PYGO1 26108 genome.wustl.edu 37 15 55838482 55838482 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_015617.1 -1 provisional p.G333 0.995 223 0% 284 45.4% 1 0% - - - NULL RFX7 64864 genome.wustl.edu 37 15 56387176 56387176 + Missense_Mutation SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_022841.5 -1 validated p.Q917R 0.999 328 0% 480 42.1% 4 75% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL HERC1 8925 genome.wustl.edu 37 15 63918254 63918254 + Missense_Mutation SNP C C A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_003922.3 -1 reviewed p.R4402L 1.000 162 0% 242 50.4% 37 32.4% probably_damaging(0.996) - - NULL UACA 55075 genome.wustl.edu 37 15 71055724 71055724 + Missense_Mutation SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_018003.2 -1 validated p.L8P 1.000 21 0% 13 38.5% 5 40% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL LOC100287646 100287646 genome.wustl.edu 37 15 74315776 74315776 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 XM_002343353.1 -1 model p.P37 0.000 7 0.000 11 0.455 0 - - - - NULL STRA6 64220 genome.wustl.edu 37 15 74483228 74483228 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001142617.1 -1 reviewed p.L294 0.866 119 0% 184 47.8% 25 28% - - - NULL STRA6 64220 genome.wustl.edu 37 15 74487742 74487742 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001142617.1 -1 reviewed p.T166 0.000 77 0% 103 42.7% 28 32.1% - - - NULL SIN3A 25942 genome.wustl.edu 37 15 75704004 75704004 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001145357.1 -1 reviewed p.P279 0.150 329 0% 434 42.2% 29 58.6% - - - NULL PTPN9 5780 genome.wustl.edu 37 15 75815503 75815503 + Silent SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_002833.2 -1 reviewed p.V127 0.817 286 0% 365 45.8% 26 50% - - - HMMPfam_CRAL_TRIO,HMMSmart_SEC14,superfamily_CRAL_TRIO_C ZFAND6 54469 genome.wustl.edu 37 15 80429912 80429912 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_019006.2 +1 provisional p.A190V 1.000 247 0% 345 13.9% 40 22.5% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) NULL EFTUD1 79631 genome.wustl.edu 37 15 82517538 82517538 + Silent SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_024580.5 -1 validated p.V420 1.000 234 0% 288 39.6% 9 55.5% - - - superfamily_Translation proteins KLHL25 64410 genome.wustl.edu 37 15 86312200 86312200 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_022480.3 -1 validated p.G281D 1.000 29 0% 33 54.5% 8 62.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Gal_oxid_central ITFG3 83986 genome.wustl.edu 37 16 314911 314911 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_032039.2 +1 validated p.R517W 0.998 45 0% 78 48.7% 89 34.8% probably_damaging(0.993) deleterious(0) deleterious(0.895) NULL SOLH 6650 genome.wustl.edu 37 16 602700 602700 + Frame_Shift_Del DEL G G - novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_005632.2 +1 reviewed p.V945fs 0.987 - - - - - - - - - NULL WDR90 197335 genome.wustl.edu 37 16 701967 701967 + Silent SNP G G T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_145294.4 +1 provisional p.T327 0.000 24 0% 21 28.6% 14 64.2% - - - NULL STUB1 10273 genome.wustl.edu 37 16 732233 732233 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_005861.2 +1 validated p.T246 0.058 102 1% 131 38.9% 452 42.9% - - - HMMPfam_U-box,HMMSmart_SM00504,superfamily_RING/U-box BAIAP3 8938 genome.wustl.edu 37 16 1391138 1391138 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_003933.3 +1 reviewed p.T194 0.000 84 0% 124 34.7% 5 40% - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB) MAPK8IP3 23162 genome.wustl.edu 37 16 1817842 1817842 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_015133.3 +1 reviewed p.T1148M 0.999 74 0% 83 51.8% 43 48.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZNF598 90850 genome.wustl.edu 37 16 2049846 2049846 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000431526 -1 known p.R568 0.154 22 0% 36 58.3% 41 53.6% - - - NULL TSC2 7249 genome.wustl.edu 37 16 2120494 2120494 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_000548.3 +1 reviewed p.R585H 0.754 91 0% 107 57.9% 99 54.5% probably_damaging(0.961) tolerated(0.05) deleterious(0.750) superfamily_ARM repeat,HMMPfam_Tuberin AMDHD2 51005 genome.wustl.edu 37 16 2571051 2571051 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_015944.3 +1 validated p.R96Q 0.980 122 0% 203 47.3% 27 40.7% benign(0.005) tolerated(0.16) neutral(0.059) HMMPfam_Amidohydro_1,superfamily_Metalo_hydrolase,superfamily_SSF51556 CREBBP 1387 genome.wustl.edu 37 16 3778767 3778767 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_004380.2 -1 reviewed p.P2094L 1.000 51 0% 67 49.3% 43 51.1% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_Nuc_recept_coact,HMMPfam_Creb_binding MGRN1 23295 genome.wustl.edu 37 16 4738831 4738831 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_015246.2 +1 validated p.L551 0.218 21 0% 18 38.9% 46 50% - - - NULL ZNF500 26048 genome.wustl.edu 37 16 4815742 4815742 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_021646.1 -1 validated p.R80W 0.984 32 0% 56 16.1% 4 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_SCAN,HMMSmart_SCAN SNN 8303 genome.wustl.edu 37 16 11769965 11769965 + Missense_Mutation SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_003498.5 +1 validated p.V17A 1.000 94 0% 107 39.3% 2 0% benign(0.227) deleterious(0) neutral(0.467) HMMPfam_SNN_transmemb RPS15A 6210 genome.wustl.edu 37 16 18794397 18794397 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001019.4 -1 reviewed p.G109 1.000 407 0% 511 30.1% 1227 48.4% - - - HMMPfam_Ribosomal_S8,PatternScan_RIBOSOMAL_S8,superfamily_Ribosomal protein S8 SYT17 51760 genome.wustl.edu 37 16 19195104 19195104 + Missense_Mutation SNP C C A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_016524.2 +1 validated p.L196M 1.000 63 0% 84 44% 0 - benign(0.335) deleterious(0.02) deleterious(0.488) superfamily_C2_CaLB UBFD1 56061 genome.wustl.edu 37 16 23569566 23569566 + Silent SNP C C A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_019116.2 +1 validated p.G107 0.920 30 0% 44 38.6% 28 42.8% - - - HMMPfam_ubiquitin,HMMSmart_UBQ,superfamily_SSF54236 ERN2 10595 genome.wustl.edu 37 16 23721844 23721844 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_033266.3 -1 validated p.V124I 0.998 138 1.4% 192 40.6% 26 38.4% possibly_damaging(0.792) tolerated(0.48) neutral(0.307) HMMPfam_PQQ,superfamily_Quinoprotein alcohol dehydrogenase-like CACNG3 10368 genome.wustl.edu 37 16 24366291 24366291 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_006539.2 +1 reviewed p.A145T 1.000 170 0% 183 38.3% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_PMP22_Claudin RBBP6 5930 genome.wustl.edu 37 16 24581419 24581422 + Frame_Shift_Del DEL AAAC AAAC - novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 AAAC AAAC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_006910.4 +1 reviewed p.K1138fs 1.000:1.000:1.000:1.000 - - - - - - - - - NULL RBBP6 5930 genome.wustl.edu 37 16 24582884 24582885 + Frame_Shift_Del DEL CT CT - novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_006910.4 +1 reviewed p.P1501fs 0.997:1.000 - - - - - - - - - NULL TNRC6A 27327 genome.wustl.edu 37 16 24788584 24788584 + Missense_Mutation SNP C C A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_014494.2 +1 reviewed p.A165D 1.000 130 0% 169 42.6% 6 33.3% possibly_damaging(0.873) deleterious(0.02) deleterious(0.722) NULL MAZ 4150 genome.wustl.edu 37 16 29820923 29820923 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001042539.1 +1 validated p.R448W 1.000 30 0% 42 54.8% 245 46.5% probably_damaging(1) tolerated(0.06) deleterious(0.823) superfamily_C2H2 and C2HC zinc fingers SEZ6L2 26470 genome.wustl.edu 37 16 29896985 29896985 + Missense_Mutation SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_201575.2 -1 validated p.S432G 1.000 65 0% 65 38.5% 6 50% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMSmart_SM00042,superfamily_Spermadhesin CUB domain ZNF48 197407 genome.wustl.edu 37 16 30409298 30409298 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_152652.1 +1 provisional p.R243W 0.249 56 0% 86 51.2% 21 57.1% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_C2H2 and C2HC zinc fingers ZNF689 115509 genome.wustl.edu 37 16 30616286 30616286 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_138447.1 -1 provisional p.R268C 0.125 117 0.9% 177 51.4% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 SETD1A 9739 genome.wustl.edu 37 16 30977525 30977525 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_014712.1 +1 provisional p.E775K 1.000 22 0% 32 34.4% 17 41.1% possibly_damaging(0.875) - - NULL ZNF646 9726 genome.wustl.edu 37 16 31091562 31091562 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_014699.3 +1 validated p.R1306Q 0.941 19 0% 40 50% 14 64.2% probably_damaging(0.985) deleterious(0.01) deleterious(0.838) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers IGHV2OR16-5 100129631 genome.wustl.edu 37 16 32859165 32859165 + Splice_Site SNP G G T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000398679 +1 known e2-1 1.000 119 0% 126 23.8% 0 - - - - - ZNF423 23090 genome.wustl.edu 37 16 49671562 49671562 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_015069.2 -1 reviewed p.V501I 0.983 172 0% 241 41.9% 1 100% benign(0) tolerated(0.54) neutral(0.007) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2 HEATR3 55027 genome.wustl.edu 37 16 50120147 50120147 + Silent SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_182922.2 +1 provisional p.R465 1.000 115 0% 155 41.9% 14 35.7% - - - superfamily_ARM repeat ADCY7 113 genome.wustl.edu 37 16 50346826 50346826 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001114.3 +1 reviewed p.C877Y 1.000 441 0% 564 45.6% 0 - probably_damaging(0.992) deleterious(0.02) deleterious(0.831) HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase CES5A 221223 genome.wustl.edu 37 16 55899902 55899902 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001143685.1 -1 validated p.S226 0.059 81 0% 116 40.5% 0 - - - - HMMPfam_COesterase,PatternScan_CARBOXYLESTERASE_B_1,superfamily_alpha/beta-Hydrolases MT1B 4490 genome.wustl.edu 37 16 56686973 56686973 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_005947.2 +1 provisional p.A61V 0.638 206 0% 215 50.2% 0 - unknown(0) deleterious(0) - HMMPfam_Metallothio,superfamily_Metallothionein NUP93 9688 genome.wustl.edu 37 16 56792463 56792463 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_014669.3 +1 validated p.G65R 1.000 121 0% 145 42.8% 27 51.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PSMB10 5699 genome.wustl.edu 37 16 67970397 67970397 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000435933 -1 known p.P26L 0.005 81 0% 132 38.6% 1 0% - - - NULL LCAT 3931 genome.wustl.edu 37 16 67977860 67977860 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_000229.1 -1 reviewed p.V49I 1.000 89 0% 140 40.7% 1 0% possibly_damaging(0.618) tolerated(0.13) neutral(0.468) superfamily_alpha/beta-Hydrolases PHLPP2 23035 genome.wustl.edu 37 16 71692651 71692651 + Missense_Mutation SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_015020.2 -1 validated p.T685A 1.000 594 0% 774 40.3% 2 0% benign(0.218) tolerated(0.39) neutral(0.037) HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364,superfamily_L domain-like HPR 3250 genome.wustl.edu 37 16 72107692 72107693 + Frame_Shift_Ins INS - - GT novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000228226 +1 known p.C10fs 0.006:0.010 - - - - - - - - - NULL GLG1 2734 genome.wustl.edu 37 16 74502869 74502869 + Missense_Mutation SNP T T G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_012201.5 -1 validated p.Q804P 1.000 39 0% 56 44.6% 104 56.7% probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_Cys_rich_FGFR KLHL36 79786 genome.wustl.edu 37 16 84691344 84691344 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_024731.2 +1 provisional p.L311F 1.000 21 0% 13 53.8% 23 47.8% probably_damaging(0.973) deleterious(0.03) deleterious(0.779) HMMSmart_SM00612,superfamily_Galactose oxidase central domain CDH15 1013 genome.wustl.edu 37 16 89251592 89251592 + Missense_Mutation SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_004933.2 +1 reviewed p.T172A 1.000 32 0% 49 36.7% 0 - possibly_damaging(0.619) deleterious(0.01) deleterious(0.621) HMMPfam_Cadherin,superfamily_Cadherin SPATA2L 124044 genome.wustl.edu 37 16 89764464 89764464 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_152339.2 -1 provisional p.A185T 0.813 15 0% 15 53.3% 14 50% possibly_damaging(0.658) tolerated(0.19) neutral(0.282) NULL SPIRE2 84501 genome.wustl.edu 37 16 89916975 89916975 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_032451.1 +1 validated p.G184 0.077 7 0.000 11 0.636 2 0% - - - HMMSmart_SM00750 SPIRE2 84501 genome.wustl.edu 37 16 89936614 89936614 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_032451.1 +1 validated p.T693 0.736 120 0% 135 17% 0 - - - - superfamily_FYVE/PHD zinc finger PFAS 5198 genome.wustl.edu 37 17 8157323 8157323 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_012393.2 +1 reviewed p.R23Q 0.000 79 0% 118 60.2% 14 78.5% benign(0) tolerated(0.51) neutral(0.009) superfamily_PurS-like MYH4 4622 genome.wustl.edu 37 17 10348368 10348368 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_017533.2 -1 validated p.L1797 1.000 384 0.3% 506 43.7% 0 - - - - HMMPfam_Myosin_tail_1 SCO1 6341 genome.wustl.edu 37 17 10596173 10596173 + Splice_Site SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000396047 -1 known e3+1 1.000 140 0% 145 41.4% 26 50% - - - - DNAH9 1770 genome.wustl.edu 37 17 11648169 11648169 + Missense_Mutation SNP C C A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001372.3 +1 reviewed p.S2056Y 1.000 96 0% 85 41.2% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) superfamily_P-loop containing nucleoside triphosphate hydrolases ZNF624 57547 genome.wustl.edu 37 17 16526901 16526901 + Silent SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_020787.2 -1 validated p.V433 0.999 242 0% 417 40.8% 1 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers RNF112 7732 genome.wustl.edu 37 17 19316635 19316635 + Missense_Mutation SNP C C A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_007148.4 +1 reviewed p.L211M 0.000 78 0% 80 51.2% 0 - - - - HMMPfam_GBP,superfamily_SSF52540 KSR1 8844 genome.wustl.edu 37 17 25932764 25932764 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_014238.1 +1 validated p.R525Q 1.000 14 0% 14 28.6% 3 33.3% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Pkinase_Tyr,superfamily_Kinase_like NOS2 4843 genome.wustl.edu 37 17 26094764 26094764 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_000625.4 -1 reviewed p.V712M 0.672 217 0% 272 47.8% 2 0% benign(0.241) tolerated(0.06) neutral(0.347) superfamily_Riboflavin synthase domain-like NF1 4763 genome.wustl.edu 37 17 29664429 29664429 + Silent SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001042492.2 +1 reviewed p.S2157 0.940 287 0% 362 42.8% 11 45.4% - - - NULL TAF15 8148 genome.wustl.edu 37 17 34151132 34151132 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_139215.1 +1 reviewed p.G179R 1.000 465 0% 632 44.6% 104 34.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL LYZL6 57151 genome.wustl.edu 37 17 34264834 34264834 + Nonsense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_020426.1 -1 provisional p.Q76* 1.000 147 0% 186 42.5% 0 - - - - HMMPfam_Lys,HMMSmart_LYZ1,superfamily_SSF53955 GPR179 440435 genome.wustl.edu 37 17 36483642 36483642 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001004334.2 -1 validated p.A1937V 0.000 126 0% 160 45.6% 0 - benign(0) deleterious(0.04) neutral(0.349) NULL GRB7 2886 genome.wustl.edu 37 17 37899223 37899223 + Missense_Mutation SNP G G A rs189871450 by1000genomes TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001030002.1 +1 reviewed p.V127M 0.992 79 0% 104 44.2% 20 60% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RA,HMMSmart_SM00314 KRT31 3881 genome.wustl.edu 37 17 39551859 39551859 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_002277.2 -1 reviewed p.R202H 0.990 165 0% 205 45.9% 0 - benign(0.074) deleterious(0) neutral(0.450) HMMPfam_Filament MEOX1 4222 genome.wustl.edu 37 17 41738739 41738739 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_004527.3 -1 reviewed p.A55V 0.934 109 0% 154 46.1% 0 - - - - NULL SLC25A39 51629 genome.wustl.edu 37 17 42399885 42399885 + Missense_Mutation SNP G G T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001143780.1 -1 validated p.L76M 0.999 253 0% 347 39.8% 320 47.5% probably_damaging(0.977) deleterious(0.01) deleterious(0.825) superfamily_Mitoch_carrier,HMMPfam_Mito_carr GRN 2896 genome.wustl.edu 37 17 42428964 42428964 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_002087.2 +1 reviewed p.T327M 0.000 111 0% 150 46% 562 45.9% probably_damaging(0.992) deleterious(0.02) deleterious(0.831) HMMPfam_Granulin,HMMSmart_SM00277,PatternScan_GRANULINS HEXIM2 124790 genome.wustl.edu 37 17 43246501 43246501 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_144608.1 +1 provisional p.V62 0.000 42 0% 37 59.5% 17 29.4% - - - NULL FMNL1 752 genome.wustl.edu 37 17 43314652 43314652 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_005892.3 +1 reviewed p.G243D 1.000 191 0% 272 43.4% 5 40% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Drf_GBD PNPO 55163 genome.wustl.edu 37 17 46019116 46019116 + Silent SNP G G T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_018129.3 +1 reviewed p.L25 0.957 35 0% 40 57.5% 40 55% - - - NULL EPN3 55040 genome.wustl.edu 37 17 48617565 48617565 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000506285 +1 known p.A298T 0.001 47 0% 55 56.4% 1 100% benign(0.008) tolerated(0.19) neutral(0.050) NULL MKS1 54903 genome.wustl.edu 37 17 56291742 56291742 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000313863 -1 known p.A175V 0.002 162 0% 247 43.7% 25 48% - - - NULL PRKCA 5578 genome.wustl.edu 37 17 64785097 64785097 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_002737.2 +1 reviewed p.V618 1.000 91 0% 106 29.2% 7 0% - - - HMMSmart_SM00133,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_C SDK2 54549 genome.wustl.edu 37 17 71398234 71398234 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001144952.1 -1 provisional p.T844I 1.000 76 0% 86 37.2% 0 - benign(0.019) tolerated(0.19) neutral(0.051) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III C17orf28 283987 genome.wustl.edu 37 17 72950440 72950440 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_030630.2 -1 validated p.A553T 1.000 119 0% 152 47.4% 242 48.7% benign(0.001) tolerated(1) - HMMPfam_Hid1 KIAA0195 9772 genome.wustl.edu 37 17 73487200 73487200 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_014738.4 +1 validated p.S400N 1.000 92 0% 98 50% 44 38.6% benign(0.026) deleterious(0.01) neutral(0.407) NULL KIAA0195 9772 genome.wustl.edu 37 17 73494748 73494748 + Missense_Mutation SNP C C A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_014738.4 +1 validated p.L1258M 1.000 529 0% 684 41.8% 87 47.1% probably_damaging(0.999) tolerated(0.2) deleterious(0.539) superfamily_Calcium ATPase transmembrane domain M UNK 85451 genome.wustl.edu 37 17 73808348 73808348 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001080419.1 +1 provisional p.R233H 1.000 104 0% 140 45.7% 16 56.2% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_CCCH zinc finger WBP2 23558 genome.wustl.edu 37 17 73845690 73845690 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_012478.3 -1 reviewed p.A100V 1.000 258 0% 329 41.3% 99 41.4% possibly_damaging(0.856) tolerated(0.13) deleterious(0.583) HMMPfam_WWbp CCDC40 55036 genome.wustl.edu 37 17 78023990 78023990 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_017950.2 +1 validated p.S356L 0.011 26 0% 46 47.8% 10 50% possibly_damaging(0.538) tolerated(0.06) deleterious(0.504) NULL BAIAP2 10458 genome.wustl.edu 37 17 79080548 79080548 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_017451.2 +1 reviewed p.L447 0.999 49 0% 79 50.6% 115 48.6% - - - NULL CCDC137 339230 genome.wustl.edu 37 17 79639635 79639635 + Silent SNP G G T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_199287.2 +1 validated p.R257 0.976 42 0% 66 31.8% 70 42.8% - - - NULL MAFG 4097 genome.wustl.edu 37 17 79880679 79880679 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_002359.2 -1 validated p.N97 0.529 47 0% 56 41.1% 6 16.6% - - - HMMPfam_bZIP_Maf,HMMSmart_BRLZ YES1 7525 genome.wustl.edu 37 18 746020 746020 + Missense_Mutation SNP C C A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_005433.3 -1 reviewed p.A168S 1.000 178 0% 134 39.6% 8 50% benign(0.002) tolerated(0.15) neutral(0.241) HMMPfam_SH2,HMMSmart_SH2,superfamily_SH3,superfamily_SSF55550 MYOM1 8736 genome.wustl.edu 37 18 3079334 3079334 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_003803.3 -1 reviewed p.S1497 0.000 254 0% 324 17.3% 0 - - - - superfamily_Immunoglobulin SLMO1 10650 genome.wustl.edu 37 18 12420418 12420418 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001142405.1 +1 validated p.V43M 0.963 29 0% 22 45.5% 8 12.5% possibly_damaging(0.88) deleterious(0) deleterious(0.788) HMMPfam_PRELI C18orf34 374864 genome.wustl.edu 37 18 30913353 30913353 + Nonsense_Mutation SNP C C A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001105528.1 -1 validated p.E222* 0.347 164 0% 219 47% 0 - - - - NULL ASXL3 80816 genome.wustl.edu 37 18 31325614 31325614 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_030632.1 +1 provisional p.M1934I 1.000 93 1.1% 104 49% 0 - possibly_damaging(0.643) deleterious(0) deleterious(0.670) NULL SLC14A2 8170 genome.wustl.edu 37 18 43224064 43224064 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_007163.3 +1 validated p.P430 0.810 498 0% 654 46% 12 50% - - - NULL HAUS1 115106 genome.wustl.edu 37 18 43698246 43698246 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_138443.3 +1 validated p.A102V 0.986 341 0% 397 48.6% 34 50% probably_damaging(0.989) deleterious(0.03) deleterious(0.804) NULL CTIF 9811 genome.wustl.edu 37 18 46385891 46385891 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001142397.1 +1 validated p.T588 0.933 58 0% 46 54.3% 11 27.2% - - - NULL MBD1 4152 genome.wustl.edu 37 18 47802076 47802076 + Missense_Mutation SNP C C A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_015846.3 -1 reviewed p.R229L 1.000 68 0% 89 49.4% 50 56% probably_damaging(0.985) deleterious(0) deleterious(0.877) HMMPfam_zf-CXXC MAPK4 5596 genome.wustl.edu 37 18 48256160 48256160 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_002747.3 +1 reviewed p.A567V 0.924 41 0% 50 42% 1 100% probably_damaging(0.955) deleterious(0) deleterious(0.843) NULL SERPINB10 5273 genome.wustl.edu 37 18 61585320 61585320 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_005024.1 +1 provisional p.T119M 0.795 148 0% 191 44% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin FBXO15 201456 genome.wustl.edu 37 18 71740880 71740880 + Missense_Mutation SNP G G T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001142958.1 -1 reviewed p.P450H 0.000 212 0% 245 44.1% 1 0% possibly_damaging(0.512) tolerated(0.15) neutral(0.413) NULL ZNF407 55628 genome.wustl.edu 37 18 72775833 72775833 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_017757.2 +1 reviewed p.A2052 0.000 62 0% 62 53.2% 3 66.6% - - - NULL SALL3 27164 genome.wustl.edu 37 18 76757021 76757021 + Missense_Mutation SNP C C A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_171999.2 +1 validated p.A1201E 0.999 88 0% 92 40.2% 0 - possibly_damaging(0.948) deleterious(0.02) deleterious(0.774) NULL CIRBP 1153 genome.wustl.edu 37 19 1271416 1271416 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001280.2 +1 validated p.G100D 0.997 80 0% 146 46.6% 114 53.5% unknown(0) deleterious(0.01) - superfamily_RNA-binding domain RBD GIPC3 126326 genome.wustl.edu 37 19 3589525 3589525 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_133261.2 +1 validated p.S226F 0.452 71 0% 101 48.5% 1 0% possibly_damaging(0.76) deleterious(0) deleterious(0.726) NULL ATCAY 85300 genome.wustl.edu 37 19 3907897 3907897 + Missense_Mutation SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_033064.4 +1 reviewed p.M175T 1.000 94 0% 93 40.9% 0 - benign(0.125) tolerated(0.05) neutral(0.356) HMMSmart_SM00516,superfamily_CRAL/TRIO domain PTPRS 5802 genome.wustl.edu 37 19 5223137 5223137 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_002850.3 -1 reviewed p.R889H 0.103 38 0% 46 32.6% 3 0% benign(0) tolerated(0.61) neutral(0.004) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III RFX2 5990 genome.wustl.edu 37 19 6026192 6026192 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_000635.3 -1 reviewed p.S193 1.000 437 0.2% 523 37.5% 3 33.3% - - - HMMPfam_RFX_DNA_binding ZNF557 79230 genome.wustl.edu 37 19 7076479 7076479 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001044387.1 +1 validated p.D70N 0.460 365 0% 504 41.9% 11 9% benign(0.091) deleterious(0.04) neutral(0.355) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box HNRNPM 4670 genome.wustl.edu 37 19 8550966 8550966 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_005968.3 +1 validated p.A552T 1.000 26 0% 39 41% 513 44.8% benign(0.036) tolerated(0.06) neutral(0.325) NULL MUC16 94025 genome.wustl.edu 37 19 9047072 9047072 + Missense_Mutation SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_024690.2 -1 validated p.V11520A 0.000 241 0% 367 41.4% 5 80% benign(0.29) - - NULL MUC16 94025 genome.wustl.edu 37 19 9074563 9074563 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_024690.2 -1 validated p.E4295K 0.000 300 0% 448 46% 3 100% unknown(0) - - NULL COL5A3 50509 genome.wustl.edu 37 19 10077410 10077410 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_015719.3 -1 reviewed p.E1491K 0.873 4 0.000 10 0.500 5 0% unknown(0) tolerated(0.09) - HMMPfam_Collagen COL5A3 50509 genome.wustl.edu 37 19 10078060 10078060 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_015719.3 -1 reviewed p.R1474H 0.622 29 0% 28 39.3% 3 0% unknown(0) deleterious(0.01) - HMMPfam_Collagen PDE4A 5141 genome.wustl.edu 37 19 10570129 10570129 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001111307.1 +1 validated p.Y385 0.001 139 0% 182 44% 3 33.3% - - - superfamily_HD-domain/PDEase-like LDLR 3949 genome.wustl.edu 37 19 11216181 11216182 + Frame_Shift_Ins INS - - C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_000527.3 +1 reviewed p.E201fs 0.026:0.041 - - - - - - - - - HMMPfam_Ldl_recept_a,HMMSmart_SM00192,superfamily_LDL receptor-like module CCDC159 126075 genome.wustl.edu 37 19 11465358 11465358 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001080503.2 +1 validated p.R292H 0.000 112 0% 201 42.3% 24 45.8% possibly_damaging(0.593) tolerated(0.13) neutral(0.458) NULL ELOF1 84337 genome.wustl.edu 37 19 11664584 11664584 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_032377.3 -1 validated p.A77T 1.000 131 0% 168 47% 60 45% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Elf1 LYL1 4066 genome.wustl.edu 37 19 13211857 13211857 + Missense_Mutation SNP C C A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_005583.3 -1 provisional p.E43D 0.700 30 0% 30 43.3% 1 0% benign(0.146) deleterious(0.04) neutral(0.361) NULL RFX1 5989 genome.wustl.edu 37 19 14094373 14094373 + Missense_Mutation SNP C C A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_002918.4 -1 validated p.E118D 0.952 21 0% 25 40% 14 21.4% benign(0.002) deleterious(0.04) neutral(0.349) NULL ASF1B 55723 genome.wustl.edu 37 19 14237047 14237047 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_018154.2 -1 reviewed p.L38 1.000 292 0% 400 39.5% 119 39.4% - - - HMMPfam_ASF1_hist_chap,superfamily_Anti-silence SYDE1 85360 genome.wustl.edu 37 19 15224486 15224486 + Silent SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_033025.4 +1 provisional p.R640 0.053 36 0% 42 52.4% 3 0% - - - NULL NOTCH3 4854 genome.wustl.edu 37 19 15272347 15272347 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_000435.2 -1 reviewed p.R2031H 1.000 59 0% 53 49.1% 27 3.7% probably_damaging(0.999) tolerated(0.06) deleterious(0.813) NULL NOTCH3 4854 genome.wustl.edu 37 19 15308343 15308343 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_000435.2 -1 reviewed p.C55 1.000 27 0% 31 58.1% 7 0% - - - HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,superfamily_EGF/Laminin AKAP8 10270 genome.wustl.edu 37 19 15471715 15471715 + Nonsense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_005858.2 -1 reviewed p.Q491* 0.996 123 0% 152 45.4% 36 36.1% - - - HMMPfam_AKAP95 WIZ 58525 genome.wustl.edu 37 19 15533916 15533916 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_021241.2 -1 validated p.A786T 0.999 102 0% 158 48.1% 62 32.2% unknown(0) deleterious(0.01) - NULL CPAMD8 27151 genome.wustl.edu 37 19 17039948 17039948 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_015692.2 -1 validated p.A1030V 1.000 101 0% 115 47.8% 0 - benign(0.348) deleterious(0) deleterious(0.554) NULL HAUS8 93323 genome.wustl.edu 37 19 17173522 17173522 + Missense_Mutation SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_033417.1 -1 validated p.L72P 0.009 311 0% 363 39.7% 21 23.8% probably_damaging(0.991) tolerated(0.13) deleterious(0.697) NULL MAP1S 55201 genome.wustl.edu 37 19 17837478 17837478 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_018174.4 +1 validated p.R429C 1.000 8 0.000 6 0.667 30 23.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL JAK3 3718 genome.wustl.edu 37 19 17955180 17955180 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_000215.3 -1 reviewed p.C16Y 1.000 30 0% 27 70.4% 1 0% probably_damaging(0.992) tolerated(0.1) deleterious(0.734) NULL CERS1 10715 genome.wustl.edu 37 19 18994996 18994996 + Missense_Mutation SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_021267.3 -1 reviewed p.Y164H 1.000 134 0% 195 50.3% 1 100% possibly_damaging(0.817) deleterious(0.04) deleterious(0.658) HMMPfam_TRAM_LAG1_CLN8,HMMSmart_SM00724 LOC100287226 100287226 genome.wustl.edu 37 19 22499142 22499142 + Missense_Mutation SNP C C A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 XM_002343636.1 +1 model p.Q842K 0.000 72 0% 67 37.3% 0 - benign(0.042) tolerated(0.26) neutral(0.037) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers MAG 4099 genome.wustl.edu 37 19 35790509 35790509 + Missense_Mutation SNP G G T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_002361.2 +1 reviewed p.E156D 1.000 69 0% 78 37.2% 0 - benign(0.392) tolerated(0.49) neutral(0.136) HMMPfam_C2-set_2,superfamily_SSF48726 CD22 933 genome.wustl.edu 37 19 35832270 35832270 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001771.3 +1 validated p.R511Q 0.000 29 0% 45 57.8% 0 - benign(0.064) deleterious(0.02) neutral(0.387) superfamily_Immunoglobulin RBM42 79171 genome.wustl.edu 37 19 36122239 36122239 + Missense_Mutation SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_024321.3 +1 provisional p.F125S 1.000 180 0% 236 42.4% 90 47.7% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL MLL4 9757 genome.wustl.edu 37 19 36220070 36220070 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_014727.1 +1 reviewed p.R1597Q 1.000 144 0% 196 47.4% 22 54.5% possibly_damaging(0.881) - - NULL CLIP3 25999 genome.wustl.edu 37 19 36517617 36517617 + Nonsense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_015526.1 -1 provisional p.Q145* 1.000 53 0% 56 66.1% 11 27.2% - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat ZNF345 25850 genome.wustl.edu 37 19 37367976 37367976 + Nonsense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_003419.3 +1 provisional p.R82* 1.000 292 0% 360 45% 1 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF585A 199704 genome.wustl.edu 37 19 37642646 37642646 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_152655.2 -1 validated p.V664M 0.001 455 0.2% 654 24.2% 4 0% benign(0.241) tolerated(0.06) neutral(0.347) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers FCGBP 8857 genome.wustl.edu 37 19 40408550 40408550 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_003890.2 -1 validated p.P1430L 0.001 160 0% 205 44.9% 1 100% possibly_damaging(0.823) deleterious(0.01) deleterious(0.717) NULL ARHGEF1 9138 genome.wustl.edu 37 19 42409116 42409116 + Missense_Mutation SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_199002.1 +1 reviewed p.Y741C 1.000 150 0% 201 53.7% 103 51.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_PH,superfamily_SSF50729 PSG2 5670 genome.wustl.edu 37 19 43585057 43585057 + Nonsense_Mutation SNP C C A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_031246.2 -1 validated p.G136* 0.006 325 0% 412 36.9% 0 - - - - HMMSmart_IG,superfamily_SSF48726 ZFP112 7771 genome.wustl.edu 37 19 44832469 44832469 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001083335.1 -1 validated p.R620Q 0.993 168 0% 195 43.1% 5 40% probably_damaging(0.988) tolerated(0.83) neutral(0.438) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers NKPD1 284353 genome.wustl.edu 37 19 45656399 45656401 + In_Frame_Del DEL CTT CTT - novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_198478.3 -1 inferred p.K210in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_KAP_NTPase OPA3 80207 genome.wustl.edu 37 19 46056966 46056966 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_025136.3 -1 reviewed p.R116C 0.703 19 0% 12 33.3% 6 33.3% possibly_damaging(0.924) deleterious(0.01) deleterious(0.778) HMMPfam_OPA3 ZC3H4 23211 genome.wustl.edu 37 19 47589753 47589753 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_015168.1 -1 validated p.R253H 0.999 36 0% 56 51.8% 7 71.4% unknown(0) tolerated(0.18) - NULL NUCB1 4924 genome.wustl.edu 37 19 49407615 49407615 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000424608 +1 known p.C49Y 1.000 126 0% 146 54.8% 156 49.3% - - - NULL GYS1 2997 genome.wustl.edu 37 19 49472562 49472562 + Missense_Mutation SNP C C A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_002103.4 -1 reviewed p.G733C 1.000 32 0% 34 50% 39 35.8% unknown(0) deleterious(0) - NULL PTH2 113091 genome.wustl.edu 37 19 49926533 49926533 + Missense_Mutation SNP G G C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_178449.3 -1 validated p.L22V 0.132 14 0% 21 47.6% 0 - unknown(0) deleterious(0) - NULL RCN3 57333 genome.wustl.edu 37 19 50040344 50040344 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_020650.2 +1 provisional p.R167Q 0.998 79 0% 149 54.4% 25 8% probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_SSF47473 PRR12 57479 genome.wustl.edu 37 19 50119293 50119293 + Missense_Mutation SNP G G A rs189469394 by1000genomes TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_020719.1 +1 validated p.A1772T 0.000 31 0% 27 51.9% 66 45.4% benign(0.002) tolerated(0.78) neutral(0.001) NULL ZNF473 25888 genome.wustl.edu 37 19 50548165 50548165 + Silent SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001006656.1 +1 validated p.G155 0.026 46 0% 40 57.5% 5 60% - - - NULL NR1H2 7376 genome.wustl.edu 37 19 50881527 50881527 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_007121.4 +1 validated p.V101 1.000 64 0% 59 13.6% 88 12.5% - - - HMMPfam_zf-C4,HMMSmart_SM00399,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain) C19orf48 84798 genome.wustl.edu 37 19 51301498 51301498 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_199249.1 -1 validated p.L70F 0.001 104 0% 142 52.1% 242 50% unknown(0) - - NULL KLK12 43849 genome.wustl.edu 37 19 51534136 51534136 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_019598.2 -1 reviewed p.V167I 0.500 187 0% 245 49.4% 201 43.7% benign(0.077) tolerated(0.15) neutral(0.246) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys SIGLEC9 27180 genome.wustl.edu 37 19 51630504 51630504 + Silent SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_014441.1 +1 provisional p.A322 0.475 65 0% 72 36.1% 0 - - - - HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726 MYADM 91663 genome.wustl.edu 37 19 54377735 54377735 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001020818.1 +1 validated p.V318I 1.000 66 0% 85 36.5% 105 32.3% possibly_damaging(0.751) tolerated(0.52) neutral(0.284) HMMPfam_MARVEL NDUFA3 4696 genome.wustl.edu 37 19 54611747 54611747 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000391764 +1 known p.A55V 0.000 44 0% 50 40% 7 42.8% benign(0) tolerated(1) - NULL LILRB4 11006 genome.wustl.edu 37 19 55179360 55179360 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_006847.3 +1 reviewed p.A413T 0.468 297 0% 360 40.8% 5 0% possibly_damaging(0.947) deleterious(0) deleterious(0.835) NULL GP6 51206 genome.wustl.edu 37 19 55526223 55526223 + Missense_Mutation SNP A A C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001083899.1 -1 validated p.W364G 0.000 110 0% 135 46.7% 0 - unknown(0) - - NULL SBK2 646643 genome.wustl.edu 37 19 56042530 56042530 + Missense_Mutation SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001101401.1 -1 provisional p.M146V 1.000 43 0% 74 43.2% 0 - benign(0.001) tolerated(0.14) neutral(0.249) superfamily_Kinase_like,HMMPfam_Pkinase EPN1 29924 genome.wustl.edu 37 19 56204336 56204336 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001130071.1 +1 validated p.T485 0.004 65 0% 77 41.6% 174 45.4% - - - NULL NLRP4 147945 genome.wustl.edu 37 19 56373465 56373465 + Missense_Mutation SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_134444.4 +1 validated p.D709G 0.000 320 0% 402 46.8% 0 - benign(0.005) tolerated(0.24) neutral(0.037) superfamily_RNI-like PEG3 5178 genome.wustl.edu 37 19 57326442 57326442 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_006210.2 -1 reviewed p.T1123I 0.000 184 0% 211 39.3% 0 - possibly_damaging(0.937) tolerated(0.42) neutral(0.397) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ANGPT4 51378 genome.wustl.edu 37 20 871003 871003 + Missense_Mutation SNP C C A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_015985.2 -1 reviewed p.R106S 0.899 136 0% 171 40.9% 0 - benign(0.007) tolerated(0.3) neutral(0.029) NULL PANK2 80025 genome.wustl.edu 37 20 3891288 3891288 + Missense_Mutation SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_153638.2 +1 reviewed p.I349T 1.000 245 0% 254 43.7% 6 33.3% benign(0.009) tolerated(0.07) neutral(0.320) HMMPfam_Fumble,superfamily_Actin-like ATPase domain LRRN4 164312 genome.wustl.edu 37 20 6022066 6022066 + Missense_Mutation SNP C C A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_152611.3 -1 validated p.G609W 0.000 34 0% 33 15.2% 0 - benign(0.001) tolerated(0.2) neutral(0.049) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III ENSG00000232838 0 genome.wustl.edu 37 20 18122864 18122864 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000432901 +1 known p.G37R 0.995 202 0% 270 37.8% 27 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL RBBP9 10741 genome.wustl.edu 37 20 18476521 18476521 + Missense_Mutation SNP G G C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_006606.2 -1 reviewed p.P35A 1.000 133 0% 127 40.2% 2 0% benign(0.018) tolerated(0.14) neutral(0.250) HMMPfam_DUF1234,superfamily_alpha/beta-Hydrolases SSTR4 6754 genome.wustl.edu 37 20 23016443 23016443 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001052.2 +1 validated p.A108V 1.000 49 0% 87 46% 0 - possibly_damaging(0.918) tolerated(0.52) neutral(0.377) HMMPfam_7tm_1,superfamily_SSF81321 PXMP4 11264 genome.wustl.edu 37 20 32298471 32298471 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_007238.4 -1 validated p.R89C 0.209 211 0% 230 44.8% 0 - benign(0.001) tolerated(0.25) neutral(0.037) HMMPfam_Pmp24 AHCY 191 genome.wustl.edu 37 20 32883206 32883206 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_000687.2 -1 reviewed p.A72T 1.000 38 0% 38 55.3% 443 52.1% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_AdoHcyase,superfamily_Formate/glycerate dehydrogenase catalytic domain-like NCOA6 23054 genome.wustl.edu 37 20 33330249 33330249 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_014071.2 -1 reviewed p.D1271N 1.000 243 0% 313 43.5% 15 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MYH7B 57644 genome.wustl.edu 37 20 33572685 33572685 + Frame_Shift_Del DEL C C - novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_020884.3 +1 reviewed p.N269fs 1.000 - - - - - - - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases CEP250 11190 genome.wustl.edu 37 20 34082468 34082469 + Frame_Shift_Del DEL GA GA - novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_007186.3 +1 reviewed p.K1054fs 1.000:1.000 - - - - - - - - - NULL ENSG00000246654 0 genome.wustl.edu 37 20 35219909 35219909 + RNA SNP G G T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000500008 -1 novel NULL 1.000 34 0% 38 34.2% 7 42.8% - - - - RPN2 6185 genome.wustl.edu 37 20 35835806 35835806 + Missense_Mutation SNP T T A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_002951.3 +1 reviewed p.V274E 0.697 307 0% 363 38.8% 457 43.1% possibly_damaging(0.768) tolerated(0.07) deleterious(0.604) HMMPfam_Ribophorin_II RALGAPB 57148 genome.wustl.edu 37 20 37154552 37154552 + Silent SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_020336.2 +1 validated p.G639 1.000 210 0% 185 47.6% 6 33.3% - - - NULL IFT52 51098 genome.wustl.edu 37 20 42264573 42264573 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_016004.2 +1 validated p.E311K 0.997 178 0% 211 50.2% 68 57.3% benign(0.001) tolerated(0.24) neutral(0.037) NULL GDAP1L1 78997 genome.wustl.edu 37 20 42885846 42885846 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000445952 +1 known p.P25S 1.000 48 0% 34 50% 0 - - - - HMMPfam_GST_N,superfamily_Thioredoxin-like TOMM34 10953 genome.wustl.edu 37 20 43588953 43588953 + Missense_Mutation SNP A A C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_006809.4 -1 reviewed p.S8A 0.029 22 0% 22 31.8% 23 52.1% probably_damaging(0.988) tolerated(0.61) neutral(0.442) NULL ZNF335 63925 genome.wustl.edu 37 20 44589308 44589308 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_022095.3 -1 reviewed p.L577F 1.000 154 0% 188 44.1% 8 25% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CD40 958 genome.wustl.edu 37 20 44751844 44751844 + Silent SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001250.4 +1 reviewed p.C161 0.989 327 0% 432 42.1% 0 - - - - HMMSmart_SM00208,superfamily_TNF receptor-like SLC2A10 81031 genome.wustl.edu 37 20 45354486 45354486 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_030777.3 +1 reviewed p.L271 0.988 91 0% 114 46.5% 9 44.4% - - - HMMPfam_Sugar_tr,superfamily_MFS general substrate transporter STAU1 6780 genome.wustl.edu 37 20 47734550 47734550 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_017453.2 -1 reviewed p.A425T 1.000 138 0% 208 43.3% 79 45.5% probably_damaging(0.999) tolerated(0.32) deleterious(0.514) NULL NFATC2 4773 genome.wustl.edu 37 20 50140514 50140514 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_173091.2 -1 reviewed p.P89L 0.999 44 0% 63 41.3% 1 100% benign(0.226) tolerated(0.55) neutral(0.029) NULL TSHZ2 128553 genome.wustl.edu 37 20 51870317 51870317 + Missense_Mutation SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_173485.4 +1 validated p.K107R 1.000 114 0% 124 52.4% 2 0% benign(0.002) tolerated(0.06) neutral(0.323) NULL TSHZ2 128553 genome.wustl.edu 37 20 51870696 51870696 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_173485.4 +1 validated p.H233 1.000 87 0% 90 43.3% 5 20% - - - PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2 BMP7 655 genome.wustl.edu 37 20 55840914 55840914 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001719.2 -1 reviewed p.A89T 1.000 60 0% 79 32.9% 17 23.5% benign(0.016) tolerated(0.2) neutral(0.050) HMMPfam_TGFb_propeptide RAB22A 57403 genome.wustl.edu 37 20 56929278 56929278 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_020673.2 +1 reviewed p.S148 1.000 212 0% 221 42.1% 16 37.5% - - - HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases GNAS 2778 genome.wustl.edu 37 20 57429998 57429998 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_080425.2 +1 reviewed p.G560S 0.025 14 0% 14 57.1% 0 - benign(0.053) tolerated(0.24) neutral(0.041) NULL SYCP2 10388 genome.wustl.edu 37 20 58442848 58442848 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_014258.2 -1 reviewed p.T1348I 0.000 112 0% 141 41.8% 0 - benign(0.067) tolerated(0.24) neutral(0.042) NULL LSM14B 149986 genome.wustl.edu 37 20 60705329 60705329 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_144703.2 +1 validated p.R217K 1.000 116 0.9% 175 40.6% 64 29.6% probably_damaging(0.974) tolerated(0.83) neutral(0.416) NULL SS18L1 26039 genome.wustl.edu 37 20 60738545 60738545 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_198935.1 +1 validated p.S196 0.193 19 0% 24 41.7% 12 50% - - - NULL OSBPL2 9885 genome.wustl.edu 37 20 60848388 60848388 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_144498.1 +1 reviewed p.S139 0.020 199 0% 230 41.3% 6 0% - - - HMMPfam_Oxysterol_BP PTK6 5753 genome.wustl.edu 37 20 62162140 62162140 + Missense_Mutation SNP G G T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_005975.2 -1 reviewed p.L325I 0.996 146 0% 235 43.8% 6 50% benign(0) tolerated(0.87) neutral(0.001) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like NCAM2 4685 genome.wustl.edu 37 21 22790836 22790836 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_004540.2 +1 reviewed p.T476I 1.000 186 0% 181 45.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_IGc2,HMMPfam_ig,superfamily_SSF48726 BACH1 571 genome.wustl.edu 37 21 30715020 30715020 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001186.2 +1 reviewed p.A693T 0.000 83 0% 117 43.6% 15 60% benign(0.002) tolerated(0.59) neutral(0.004) NULL KRTAP19-5 337972 genome.wustl.edu 37 21 31874363 31874363 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_181611.1 -1 provisional p.G16R 0.000 165 0% 220 50.9% 0 - unknown(0) - - NULL ITSN1 6453 genome.wustl.edu 37 21 35183292 35183292 + Frame_Shift_Del DEL A A - novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_003024.2 +1 reviewed p.T779fs 1.000 - - - - - - - - - HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain ITSN1 6453 genome.wustl.edu 37 21 35186339 35186339 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_003024.2 +1 reviewed p.T897M 1.000 62 0% 95 50.5% 6 100% probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_SH3-domain MORC3 23515 genome.wustl.edu 37 21 37710101 37710101 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_015358.2 +1 reviewed p.S106L 1.000 166 0.6% 199 33.2% 6 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ATP_bd_ATPase DYRK1A 1859 genome.wustl.edu 37 21 38868552 38868552 + Nonsense_Mutation SNP G G T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001396.3 +1 reviewed p.G411* 1.000 97 0% 108 37% 5 60% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase TMPRSS2 7113 genome.wustl.edu 37 21 42866413 42866413 + Silent SNP G G T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_005656.3 -1 reviewed p.V36 0.011 241 0% 269 45% 20 60% - - - NULL UMODL1 89766 genome.wustl.edu 37 21 43510464 43510464 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_173568.3 +1 validated p.A283T 0.000 257 0% 366 47.3% 0 - benign(0.242) tolerated(0.81) neutral(0.025) PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin ABCG1 9619 genome.wustl.edu 37 21 43706047 43706047 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_004915.3 +1 reviewed p.P306S 1.000 321 0% 432 37.7% 6 16.6% probably_damaging(0.986) tolerated(0.07) deleterious(0.754) NULL CBS 875 genome.wustl.edu 37 21 44482442 44482442 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_000071.2 -1 reviewed p.A340T 0.003 53 0% 87 51.7% 14 57.1% benign(0.001) tolerated(0.15) neutral(0.241) HMMPfam_PALP,superfamily_Tryptophan synthase beta subunit-like PLP-dependent enzymes C21orf2 755 genome.wustl.edu 37 21 45751863 45751863 + Silent SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_004928.2 -1 validated p.S136 0.755 119 0% 131 43.5% 35 40% - - - superfamily_Outer arm dynein light chain 1 PCNT 5116 genome.wustl.edu 37 21 47860066 47860066 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_006031.5 +1 reviewed p.G3115D 0.001 61 0% 96 41.7% 23 26% possibly_damaging(0.649) tolerated(0.56) neutral(0.235) NULL LOC729057 729057 genome.wustl.edu 37 22 16123310 16123310 + RNA SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 XR_042044.2 +1 model NULL 1.000 260 0.4% 320 11.3% 1 0% - - - - TXNRD2 10587 genome.wustl.edu 37 22 19867721 19867721 + Missense_Mutation SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_006440.3 -1 reviewed p.H419R 0.982 64 0% 70 41.4% 70 45.7% benign(0.186) deleterious(0.04) neutral(0.366) HMMPfam_Pyr_redox_dim,superfamily_FAD/NAD-linked reductases dimerisation (C-terminal) domain IGLV3-9 28804 genome.wustl.edu 37 22 23162092 23162092 + Missense_Mutation SNP C C A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000390316 +1 known p.P62H 0.676 108 0% 157 39.5% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin RAB36 9609 genome.wustl.edu 37 22 23492307 23492307 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_004914.2 +1 validated p.A109T 0.118 106 0% 126 49.2% 0 - benign(0) tolerated(0.31) neutral(0.027) HMMSmart_SM00177 ADORA2A 135 genome.wustl.edu 37 22 24836876 24836876 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_000675.4 +1 reviewed p.R220W 0.624 106 0% 158 41.1% 15 20% probably_damaging(0.993) deleterious(0.01) deleterious(0.856) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ASCC2 84164 genome.wustl.edu 37 22 30185169 30185169 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_032204.3 -1 provisional p.R703W 0.999 185 0% 246 47.2% 104 55.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LARGE 9215 genome.wustl.edu 37 22 34157439 34157439 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_004737.4 -1 reviewed p.R9W 1.000 246 0% 294 41.8% 7 57.1% probably_damaging(0.992) deleterious(0.03) deleterious(0.812) NULL MCM5 4174 genome.wustl.edu 37 22 35811955 35811955 + Missense_Mutation SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_006739.3 +1 reviewed p.E446G 1.000 315 0% 381 45.9% 163 49.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MCM,HMMSmart_SM00350,PatternScan_MCM_1,superfamily_P-loop containing nucleoside triphosphate hydrolases ELFN2 114794 genome.wustl.edu 37 22 37770959 37770959 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_052906.3 -1 validated p.V206I 1.000 41 0% 44 45.5% 0 - possibly_damaging(0.917) tolerated(0.24) neutral(0.405) HMMSmart_LRRCT,superfamily_SSF52058 PLA2G6 8398 genome.wustl.edu 37 22 38565395 38565395 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_003560.2 -1 reviewed p.G13 0.243 94 0% 136 37.5% 4 75% - - - NULL APOBEC3B 9582 genome.wustl.edu 37 22 39385523 39385523 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_004900.3 +1 reviewed p.R211W 0.000 124 0% 95 28.4% 13 7.6% benign(0.382) deleterious(0.01) deleterious(0.528) HMMPfam_APOBEC_N ATF4 468 genome.wustl.edu 37 22 39918059 39918059 + Missense_Mutation SNP C C A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001675.2 +1 reviewed p.L170M 0.349 210 0% 242 38% 641 43.8% possibly_damaging(0.539) tolerated(0.12) neutral(0.443) NULL EP300 2033 genome.wustl.edu 37 22 41531831 41531831 + Nonsense_Mutation SNP G G T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001429.3 +1 reviewed p.G515* 1.000 358 0% 474 13.3% 5 0% - - - NULL TCF20 6942 genome.wustl.edu 37 22 42609149 42609149 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_005650.1 -1 reviewed p.V721 0.969 103 0% 172 43.6% 10 20% - - - NULL POLDIP3 84271 genome.wustl.edu 37 22 42999129 42999129 + Nonsense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_032311.3 -1 reviewed p.R33* 0.994 114 0% 162 44.4% 58 67.2% - - - NULL IL17REL 400935 genome.wustl.edu 37 22 50435488 50435488 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001001694.2 -1 validated p.P330 0.000 112 0.9% 135 41.5% 0 - - - - NULL PLCXD1 55344 genome.wustl.edu 37 X 215942 215942 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_018390.3 +1 reviewed p.I304 0.044 207 0% 252 43.7% 21 66.6% - - - superfamily_PLC-like_Pdiesterase_TIM-brl PPP2R3B 28227 genome.wustl.edu 37 X 306399 306399 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_013239.4 -1 reviewed p.A296 0.998 176 0% 286 46.9% 41 39% - - - NULL ASMTL 8623 genome.wustl.edu 37 X 1537890 1537890 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_004192.3 -1 reviewed p.A455T 0.999 82 0% 86 43% 95 46.3% possibly_damaging(0.894) tolerated(0.06) deleterious(0.674) HMMPfam_Methyltransf_2,superfamily_S-adenosyl-L-methionine-dependent methyltransferases ASMTL 8623 genome.wustl.edu 37 X 1557996 1557996 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000416733 -1 known p.R35Q 0.995 339 0% 522 46.2% 30 60% benign(0.063) deleterious(0.02) neutral(0.387) NULL ZBED1 9189 genome.wustl.edu 37 X 2408381 2408381 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_004729.3 -1 reviewed p.T127M 1.000 102 0% 126 50.8% 112 51.7% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL FAM9A 171482 genome.wustl.edu 37 X 8764408 8764408 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_174951.3 -1 validated p.G130D 0.000 457 0% 538 40.7% 0 - benign(0.004) tolerated(0.2) neutral(0.049) NULL FAM9B 171483 genome.wustl.edu 37 X 9000488 9000488 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_205849.2 -1 validated p.R15C 0.005 482 0.2% 595 38.5% 0 - benign(0.298) deleterious(0.01) deleterious(0.498) NULL SHROOM2 357 genome.wustl.edu 37 X 9905447 9905447 + Missense_Mutation SNP G G T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001649.2 +1 reviewed p.Q1287H 0.000 59 1.7% 55 49.1% 1 0% possibly_damaging(0.44) tolerated(0.13) neutral(0.396) NULL ARHGAP6 395 genome.wustl.edu 37 X 11197522 11197522 + Silent SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_013427.2 -1 reviewed p.H460 1.000 184 0% 232 44.8% 1 0% - - - HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP TMEM27 57393 genome.wustl.edu 37 X 15646145 15646145 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_020665.4 -1 reviewed p.G206 0.421 370 0% 529 42.5% 0 - - - - NULL NHS 4810 genome.wustl.edu 37 X 17744822 17744822 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_198270.2 +1 reviewed p.D845N 0.709 73 0% 112 42% 1 0% probably_damaging(0.99) tolerated(0.51) neutral(0.451) NULL MAP7D2 256714 genome.wustl.edu 37 X 20043906 20043906 + Missense_Mutation SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_152780.3 -1 validated p.Q350R 0.005 339 0% 372 42.5% 0 - unknown(0) tolerated(0.84) - NULL MAP7D2 256714 genome.wustl.edu 37 X 20068979 20068979 + Missense_Mutation SNP T T G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000379643 -1 known p.R185S 0.995 285 0% 358 42.2% 0 - unknown(0) tolerated(0.13) - NULL YY2 404281 genome.wustl.edu 37 X 21875231 21875231 + Missense_Mutation SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_206923.3 +1 reviewed p.Y210C 1.000 129 0% 171 46.2% 2 0% possibly_damaging(0.704) deleterious(0) deleterious(0.698) NULL SAT1 6303 genome.wustl.edu 37 X 23801955 23801955 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_002970.2 +1 reviewed p.H53Y 1.000 353 0% 382 39.8% 290 84.4% benign(0.09) tolerated(0.11) neutral(0.278) superfamily_Acyl-CoA N-acyltransferases (Nat) CXorf58 254158 genome.wustl.edu 37 X 23953497 23953497 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_152761.2 +1 validated p.T247M 0.632 83 0% 114 43.9% 0 - probably_damaging(1) deleterious(0.05) deleterious(0.845) NULL DMD 1756 genome.wustl.edu 37 X 32591965 32591965 + Splice_Site SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_004006.2 -1 reviewed e14-2 1.000 127 0% 139 45.3% 0 - - - - - SYTL5 94122 genome.wustl.edu 37 X 37893201 37893201 + Missense_Mutation SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_138780.2 +1 reviewed p.M20T 1.000 228 0% 210 44.8% 0 - benign(0.003) tolerated(0.17) neutral(0.059) HMMPfam_RPH3A_effector,superfamily_FYVE_PHD_ZnF USP9X 8239 genome.wustl.edu 37 X 41007709 41007709 + Missense_Mutation SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001039590.2 +1 reviewed p.M503V 1.000 324 0% 378 39.9% 12 58.3% possibly_damaging(0.799) deleterious(0.02) deleterious(0.684) NULL TSPYL2 64061 genome.wustl.edu 37 X 53115251 53115251 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_022117.3 +1 reviewed p.S559 0.942 448 0.2% 644 44.4% 43 93% - - - NULL TAF1 6872 genome.wustl.edu 37 X 70608190 70608190 + Missense_Mutation SNP G G A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_004606.3 +1 reviewed p.R864Q 1.000 148 0% 164 53.7% 2 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL OGT 8473 genome.wustl.edu 37 X 70787478 70787478 + Silent SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_181672.2 +1 reviewed p.A906 1.000 228 0% 292 45.2% 36 0% - - - NULL RAB9B 51209 genome.wustl.edu 37 X 103080474 103080474 + Missense_Mutation SNP C C A novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_016370.2 -1 reviewed p.D81Y 1.000 207 0% 272 38.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 MORC4 79710 genome.wustl.edu 37 X 106224218 106224218 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_024657.4 -1 reviewed p.R280H 1.000 404 0% 450 40.9% 6 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_ATP_bd_ATPase TRPC5 7224 genome.wustl.edu 37 X 111095667 111095667 + Splice_Site SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_012471.2 -1 reviewed e4-2 1.000 175 0% 205 37.1% 0 - - - - - DOCK11 139818 genome.wustl.edu 37 X 117722429 117722429 + Silent SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_144658.3 +1 validated p.A678 0.000 648 0% 796 43.1% 0 - - - - NULL MST4 51765 genome.wustl.edu 37 X 131202580 131202580 + Missense_Mutation SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_016542.3 +1 reviewed p.S194P 1.000 123 0% 144 40.3% 6 100% possibly_damaging(0.945) deleterious(0.01) deleterious(0.795) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ZNF75D 7626 genome.wustl.edu 37 X 134421285 134421286 + Frame_Shift_Del DEL GT GT - novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 GT GT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_007131.3 -1 reviewed p.H439fs 1.000:1.000 - - - - - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 SAGE1 55511 genome.wustl.edu 37 X 134991927 134991927 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_018666.2 +1 reviewed p.T571I 0.010 123 0% 169 40.2% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL GPR112 139378 genome.wustl.edu 37 X 135405499 135405499 + Silent SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_153834.3 +1 reviewed p.D211 0.770 113 0% 127 39.4% 0 - - - - superfamily_ConA_like_lec_gl ATP11C 286410 genome.wustl.edu 37 X 138908947 138908948 + Frame_Shift_Del DEL TG TG - novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_173694.4 -1 validated p.T24fs 0.942:0.997 - - - - - - - - - NULL LOC392555 392555 genome.wustl.edu 37 X 141260813 141260813 + Silent SNP G G A rs1883360 byCluster;byFrequency;by2Hit2Allele;byHapMap;by1000genomes TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 XM_002343852.1 -1 model p.L372 0.017 46 0% 51 41.2% 0 - - - - NULL MAMLD1 10046 genome.wustl.edu 37 X 149639325 149639327 + In_Frame_Del DEL CAG CAG - novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_005491.3 +1 reviewed p.Q497in_frame_del 0.006:0.000:0.000 - - - - - - - - - NULL MTM1 4534 genome.wustl.edu 37 X 149765038 149765038 + Missense_Mutation SNP A A G novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000413012 +1 known p.K47R 1.000 202 0% 297 43.4% 0 - - - - NULL CD99L2 83692 genome.wustl.edu 37 X 149944713 149944713 + Nonsense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 ENST00000355330 -1 known p.W195* 1.000 85 0% 88 39.8% 5 60% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CNGA2 1260 genome.wustl.edu 37 X 150912711 150912711 + Missense_Mutation SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_005140.1 +1 reviewed p.M579T 1.000 123 0% 162 43.8% 0 - benign(0.012) tolerated(0.12) neutral(0.261) NULL TREX2 11219 genome.wustl.edu 37 X 152710422 152710422 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_080701.3 -1 reviewed p.R156H 0.057 13 0% 18 66.7% 0 - benign(0) tolerated(0.13) neutral(0.253) HMMSmart_EXOIII,superfamily_RNaseH_fold,HMMPfam_Exonuc_X-T BGN 633 genome.wustl.edu 37 X 152772588 152772590 + In_Frame_Del DEL ACA ACA - novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 ACA ACA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_001711.4 +1 reviewed p.N287in_frame_del 1.000:0.995:1.000 - - - - - - - - - HMMPfam_LRR_1,superfamily_SSF52058 L1CAM 3897 genome.wustl.edu 37 X 153131169 153131169 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_000425.3 -1 reviewed p.R846H 0.864 79 0% 87 29.9% 0 - possibly_damaging(0.714) deleterious(0.04) deleterious(0.607) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III HCFC1 3054 genome.wustl.edu 37 X 153221854 153221854 + Missense_Mutation SNP T T C novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_005334.2 -1 reviewed p.T882A 0.990 96 0% 134 37.3% 47 2.1% probably_damaging(0.988) deleterious(0) deleterious(0.882) NULL VBP1 7411 genome.wustl.edu 37 X 154444767 154444767 + Missense_Mutation SNP C C T novel TCGA-D1-A177-01A-21D-A12J-09 TCGA-D1-A177-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b7eecc03-d8dc-4e75-9cd6-bfbb6f807873 75cbe7dd-15c4-4f78-a710-dda53911de67 NM_003372.5 +1 reviewed p.A3V 0.628 100 0% 124 46.8% 21 0% benign(0.001) deleterious(0.03) neutral(0.364) NULL