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 chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error PIGG 54872 genome.wustl.edu 36 4 505720 505720 + Missense_Mutation SNP C C A novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 4 505720 505720 C A SNP PIGG NM_017733 human genbank 54_36p +1 validated missense c.1580 p.T527N 0.000 NULL superfamily_Alkaline_phosphatase_core - no_errors APC2 10297 genome.wustl.edu 36 19 1418803 1418803 + Silent SNP C T T rs61749994 unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 19 1418803 1418803 C T SNP APC2 NM_005883 human genbank 54_36p +1 validated silent c.4503 p.P1501 1.000 NULL superfamily_ARM repeat,HMMSmart_SM00185,HMMPfam_Arm,PatternScan_CYSTEINE_SWITCH,HMMPfam_APC_crr,HMMPfam_SAMP,HMMPfam_APC_basic - no_errors REXO1 57455 genome.wustl.edu 36 19 1778427 1778427 + Missense_Mutation SNP G G C novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 19 1778427 1778427 G C SNP REXO1 NM_020695 human genbank 54_36p -1 validated missense c.1361 p.P454R 0.003 NULL superfamily_Ribonuclease H-like,HMMSmart_SM00479,HMMPfam_Exonuc_X-T - no_errors SLC4A11 83959 genome.wustl.edu 36 20 3157863 3157863 + Silent SNP C C T novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 20 3157863 3157863 C T SNP SLC4A11 NM_032034 human genbank 54_36p -1 validated silent c.1944 p.A648 0.991 HMMPfam_HCO3_cotransp superfamily_Phoshotransferase/anion transport protein,HMMPfam_HCO3_cotransp - no_errors PLD2 5338 genome.wustl.edu 36 17 4664759 4664759 + Missense_Mutation SNP G G T novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 17 4664759 4664759 G T SNP PLD2 NM_002663 human genbank 54_36p +1 validated missense c.1091 p.W364L 1.000 superfamily_Phospholipase D/nuclease superfamily_PX domain,HMMPfam_PX,HMMSmart_SM00312,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_Phospholipase D/nuclease,HMMPfam_PLDc,HMMSmart_SM00155 - no_errors FAM90A20 728430 genome.wustl.edu 36 8 7142168 7142168 + Missense_Mutation SNP C G G novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 8 7142168 7142168 C G SNP FAM90A20 XM_001128051 human genbank 54_36p +1 model missense c.607 p.Q203E 0.004 NULL NULL - no_errors ENSG00000215372 0 genome.wustl.edu 36 8 7203207 7203207 + Missense_Mutation SNP A A T novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 8 7203207 7203207 A T SNP ENSG00000215372 ENST00000400156 human ensembl 54_36p -1 known missense c.610 p.C204S 0.881 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 HMMPfam_KRAB,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors TP53 7157 genome.wustl.edu 36 17 7518996 7518996 + Missense_Mutation SNP T C C novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 17 7518996 7518996 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.578 p.H193R 1.000 HMMPfam_P53,superfamily_p53-like transcription factors HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain - no_errors FBN3 84467 genome.wustl.edu 36 19 8051917 8051917 + Missense_Mutation SNP C T T novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 19 8051917 8051917 C T SNP FBN3 NM_032447 human genbank 54_36p -1 reviewed missense c.7423 p.G2475S 0.996 superfamily_Growth factor receptor domain,HMMPfam_EGF_CA,HMMSmart_SM00179,HMMSmart_SM00181,PatternScan_EGF_2 HMMSmart_SM00181,superfamily_EGF/Laminin,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_TB module/8-cys domain,HMMPfam_TB,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,PatternScan_ASX_HYDROXYL,HMMPfam_EGF,superfamily_Growth factor receptor domain - no_errors GATA3 2625 genome.wustl.edu 36 10 8155883 8155883 + Missense_Mutation SNP C C A novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 10 8155883 8155883 C A SNP GATA3 NM_001002295 human genbank 54_36p +1 validated missense c.1226 p.P409H 0.995 NULL superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00401,PatternScan_GATA_ZN_FINGER_1,HMMPfam_GATA - no_errors ZNF653 115950 genome.wustl.edu 36 19 11458973 11458973 + Missense_Mutation SNP T T C novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 19 11458973 11458973 T C SNP ZNF653 NM_138783 human genbank 54_36p -1 provisional missense c.1172 p.E391G 0.998 NULL HMMSmart_AT_hook,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57667 - no_errors ZNF442 79973 genome.wustl.edu 36 19 12323103 12323103 + Missense_Mutation SNP C C A novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 19 12323103 12323103 C A SNP ZNF442 NM_030824 human genbank 54_36p -1 validated missense c.296 p.S99I 0.001 NULL superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors TYRP1 7306 genome.wustl.edu 36 9 12684227 12684227 + Silent SNP T T C novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 9 12684227 12684227 T C SNP TYRP1 NM_000550 human genbank 54_36p +1 reviewed silent c.231 p.P77 0.994 NULL superfamily_Di-copper_centre,HMMPfam_Tyrosinase,PatternScan_TYROSINASE_1,PatternScan_TYROSINASE_2 - no_errors SIRT5 23408 genome.wustl.edu 36 6 13709069 13709069 + Missense_Mutation SNP C C G novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 6 13709069 13709069 C G SNP SIRT5 NM_012241 human genbank 54_36p +1 reviewed missense c.766 p.P256A 1.000 superfamily_DHS-like NAD/FAD-binding domain,HMMPfam_SIR2 superfamily_DHS-like NAD/FAD-binding domain,HMMPfam_SIR2 - no_errors TUBA8 51807 genome.wustl.edu 36 22 16989613 16989613 + Missense_Mutation SNP G G A novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 22 16989613 16989613 G A SNP TUBA8 NM_018943 human genbank 54_36p +1 provisional missense c.868 p.E290K 1.000 superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C superfamily_Tubulin nucleotide-binding domain-like,HMMPfam_Tubulin,PatternScan_TUBULIN,superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C - no_errors MRGPRX3 117195 genome.wustl.edu 36 11 18115510 18115510 + Missense_Mutation SNP C C A novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 11 18115510 18115510 C A SNP MRGPRX3 NM_054031 human genbank 54_36p +1 provisional missense c.185 p.S62Y 0.945 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors NRSN1 140767 genome.wustl.edu 36 6 24253886 24253886 + Silent SNP G G A novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 6 24253886 24253886 G A SNP NRSN1 NM_080723 human genbank 54_36p +1 validated silent c.321 p.Q107 1.000 NULL NULL - no_errors RAB10 10890 genome.wustl.edu 36 2 26186170 26186170 + Missense_Mutation SNP C C G novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 2 26186170 26186170 C G SNP RAB10 NM_016131 human genbank 54_36p +1 provisional missense c.218 p.T73S 1.000 HMMSmart_SM00177,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00173,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174,HMMSmart_SM00176 HMMSmart_SM00177,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00173,HMMSmart_SM00175,HMMPfam_Ras,PatternScan_SIGMA54_INTERACT_1,HMMSmart_SM00174,HMMSmart_SM00176 - no_errors HIST1H2BI 8346 genome.wustl.edu 36 6 26381420 26381420 + Missense_Mutation SNP C C T novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 6 26381420 26381420 C T SNP HIST1H2BI NM_003525 human genbank 54_36p +1 reviewed missense c.238 p.R80C 1.000 superfamily_Histone-fold,HMMSmart_SM00427,HMMPfam_Histone superfamily_Histone-fold,HMMSmart_SM00427,HMMPfam_Histone,PatternScan_HISTONE_H2B - no_errors GCKR 2646 genome.wustl.edu 36 2 27582927 27582927 + Silent SNP C C G novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 2 27582927 27582927 C G SNP GCKR NM_001486 human genbank 54_36p +1 reviewed silent c.945 p.T315 0.134 superfamily_SIS domain superfamily_SIS domain,PatternScan_GCKR - no_errors RNF160 26046 genome.wustl.edu 36 21 29237871 29237871 + Silent SNP A G G novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 21 29237871 29237871 A G SNP RNF160 NM_015565 human genbank 54_36p -1 validated silent c.4209 p.H1403 0.998 NULL superfamily_ARM repeat,superfamily_RING/U-box,HMMSmart_SM00744,HMMPfam_zf-C3HC4 - no_errors OR10C1 442194 genome.wustl.edu 36 6 29516502 29516502 + Missense_Mutation SNP T T A novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 6 29516502 29516502 T A SNP OR10C1 NM_013941 human genbank 54_36p +1 provisional missense c.731 p.L244Q 0.963 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors C20orf185 359710 genome.wustl.edu 36 20 31120378 31120378 + Missense_Mutation SNP A A G novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 20 31120378 31120378 A G SNP C20orf185 NM_182658 human genbank 54_36p +1 provisional missense c.1087 p.N363D 0.373 superfamily_Bactericidal_perm-incr_a/b_dom,HMMSmart_BPI2,HMMPfam_LBP_BPI_CETP_C PatternScan_LBP_BPI_CETP,superfamily_Bactericidal_perm-incr_a/b_dom,HMMSmart_BPI1,HMMPfam_LBP_BPI_CETP,HMMSmart_BPI2,HMMPfam_LBP_BPI_CETP_C - no_errors ENSG00000198493 0 genome.wustl.edu 36 6 32086990 32086990 + Silent SNP C C T novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 6 32086990 32086990 C T SNP ENSG00000198493 ENST00000359300 human ensembl 54_36p -1 known silent c.768 p.R256 0.682 superfamily_FN_III-like,HMMPfam_fn3,HMMSmart_FN3 superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3 - no_errors BBS9 27241 genome.wustl.edu 36 7 33394271 33394271 + Missense_Mutation SNP C A A novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 7 33394271 33394271 C A SNP BBS9 NM_198428 human genbank 54_36p +1 reviewed missense c.2105 p.T702N 1.000 NULL NULL - no_errors UBAP2 55833 genome.wustl.edu 36 9 33988843 33988843 + Missense_Mutation SNP C G G novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 9 33988843 33988843 C G SNP UBAP2 NM_018449 human genbank 54_36p -1 reviewed missense c.119 p.R40P 1.000 NULL HMMPfam_UBA,HMMSmart_UBA - no_errors ZNF536 9745 genome.wustl.edu 36 19 35628177 35628177 + Missense_Mutation SNP C C G novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 19 35628177 35628177 C G SNP ZNF536 NM_014717 human genbank 54_36p +1 provisional missense c.1868 p.P623R 0.994 NULL superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors VSTM2L 128434 genome.wustl.edu 36 20 35993565 35993565 + Missense_Mutation SNP G G C novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 20 35993565 35993565 G C SNP VSTM2L NM_080607 human genbank 54_36p +1 validated missense c.236 p.W79S 1.000 superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409 superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409 - no_errors EIF2C1 26523 genome.wustl.edu 36 1 36140164 36140164 + Missense_Mutation SNP C C T novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 1 36140164 36140164 C T SNP EIF2C1 NM_012199 human genbank 54_36p +1 reviewed missense c.1169 p.P390L 1.000 NULL superfamily_PAZ domain,HMMPfam_DUF1785,HMMPfam_PAZ,superfamily_Ribonuclease H-like,HMMPfam_Piwi - no_errors TGM2 7052 genome.wustl.edu 36 20 36192038 36192038 + Silent SNP G G A novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 20 36192038 36192038 G A SNP TGM2 NM_004613 human genbank 54_36p -1 reviewed silent c.2061 p.A687 0.746 superfamily_Transglutaminase two C-terminal domains superfamily_E set domains,HMMPfam_Transglut_N,superfamily_Cysteine proteinases,HMMSmart_SM00460,HMMPfam_Transglut_core,PatternScan_TRANSGLUTAMINASES,superfamily_Transglutaminase two C-terminal domains,HMMPfam_Transglut_C - no_errors APOBEC3G 60489 genome.wustl.edu 36 22 37809744 37809744 + Missense_Mutation SNP G G C novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 22 37809744 37809744 G C SNP APOBEC3G NM_021822 human genbank 54_36p +1 reviewed missense c.644 p.R215P 0.000 HMMPfam_APOBEC_N HMMPfam_APOBEC_N,superfamily_Cytidine deaminase-like,HMMPfam_APOBEC_C,PatternScan_CYT_DCMP_DEAMINASES - no_errors FBXO33 254170 genome.wustl.edu 36 14 38970743 38970743 + Silent SNP C C A novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 14 38970743 38970743 C A SNP FBXO33 NM_203301 human genbank 54_36p -1 validated silent c.375 p.L125 1.000 superfamily_SSF81383 superfamily_SSF81383,HMMPfam_F-box,HMMSmart_FBOX - no_errors INO80 54617 genome.wustl.edu 36 15 39066625 39066625 + Missense_Mutation SNP T T A novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 15 39066625 39066625 T A SNP INO80 NM_017553 human genbank 54_36p -1 validated missense c.3788 p.E1263V 1.000 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_SNF2_N,HMMSmart_SM00490,HMMPfam_Helicase_C - no_errors ADAMTS20 80070 genome.wustl.edu 36 12 42056707 42056707 + Missense_Mutation SNP C C G novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 12 42056707 42056707 C G SNP ADAMTS20 NM_025003 human genbank 54_36p -1 validated missense c.5012 p.G1671A 0.995 superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1 "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1,HMMPfam_GON" - no_errors LOC653097 653097 genome.wustl.edu 36 10 42066586 42066586 + Missense_Mutation SNP T T A novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 10 42066586 42066586 T A SNP LOC653097 XM_925973 human genbank 54_36p +1 model missense c.102 p.N34K 1.000 NULL NULL - no_errors YIPF3 25844 genome.wustl.edu 36 6 43591679 43591679 + Missense_Mutation SNP C C A novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 6 43591679 43591679 C A SNP YIPF3 NM_015388 human genbank 54_36p -1 validated missense c.214 p.A72S 0.997 NULL HMMPfam_Yip1 - no_errors ENSG00000206944 0 genome.wustl.edu 36 18 43950215 43950215 + RNA SNP T C C novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 18 43950215 43950215 T C SNP ENSG00000206944 ENST00000384217 human ensembl 54_36p -1 novel rna NULL NULL 1.000 - - - no_errors DUSP21 63904 genome.wustl.edu 36 X 44588842 44588842 + Missense_Mutation SNP G G C novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 X 44588842 44588842 G C SNP DUSP21 NM_022076 human genbank 54_36p +1 reviewed missense c.520 p.G174R 0.972 NULL superfamily_SSF52799,HMMPfam_DSPc,HMMSmart_DSPc,PatternScan_TYR_PHOSPHATASE_1 - no_errors FCGBP 8857 genome.wustl.edu 36 19 45090300 45090300 + Missense_Mutation SNP G G C novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 19 45090300 45090300 G C SNP FCGBP NM_003890 human genbank 54_36p -1 validated missense c.6507 p.H2169Q 0.000 HMMSmart_VWD,HMMPfam_VWD HMMSmart_FOLN,HMMSmart_VWD,HMMPfam_VWD,HMMPfam_C8,superfamily_Cysrich_TIL,HMMPfam_TIL,HMMPfam_TIL_assoc,HMMSmart_VWC - no_errors ABCC11 85320 genome.wustl.edu 36 16 46768347 46768347 + Missense_Mutation SNP C C T novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 16 46768347 46768347 C T SNP ABCC11 NM_032583 human genbank 54_36p -1 reviewed missense c.3527 p.R1176K 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1 - no_errors C1QL4 338761 genome.wustl.edu 36 12 48016402 48016402 + Silent SNP G G C novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 12 48016402 48016402 G C SNP C1QL4 NM_001008223 human genbank 54_36p -1 provisional silent c.126 p.P42 0.028 NULL HMMPfam_Collagen,HMMSmart_C1Q,superfamily_TNF_like,HMMPfam_C1q - no_errors LOC120824 120824 genome.wustl.edu 36 11 48959813 48959813 + Missense_Mutation SNP C C T novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 11 48959813 48959813 C T SNP LOC120824 XM_062300 human genbank 54_36p -1 model missense c.11 p.G4E 0.979 superfamily_RING/U-box superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,HMMPfam_zf-B_box,HMMSmart_SM00336,HMMPfam_SPRY - no_errors DMXL2 23312 genome.wustl.edu 36 15 49586694 49586694 + Missense_Mutation SNP T T A novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 15 49586694 49586694 T A SNP DMXL2 NM_015263 human genbank 54_36p -1 validated missense c.2693 p.E898V 1.000 NULL superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40 - no_errors DDC 1644 genome.wustl.edu 36 7 50573114 50573114 + Missense_Mutation SNP T T A novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 7 50573114 50573114 T A SNP DDC NM_000790 human genbank 54_36p -1 reviewed missense c.373 p.M125L 1.000 superfamily_PLP-dependent transferases,HMMPfam_Pyridoxal_deC superfamily_PLP-dependent transferases,HMMPfam_Pyridoxal_deC,PatternScan_DDC_GAD_HDC_YDC - no_errors WDR72 256764 genome.wustl.edu 36 15 51812530 51812530 + Missense_Mutation SNP G G T novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 15 51812530 51812530 G T SNP WDR72 NM_182758 human genbank 54_36p -1 validated missense c.109 p.Q37K 0.997 superfamily_WD40 repeat-like,HMMSmart_SM00320 superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1 - no_errors PHF7 51533 genome.wustl.edu 36 3 52431347 52431347 + Silent SNP C C A novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 3 52431347 52431347 C A SNP PHF7 NM_016483 human genbank 54_36p +1 reviewed silent c.750 p.A250 1.000 HMMSmart_RING PatternScan_ZF_RING_1,PatternScan_ZF_PHD_1,HMMSmart_PHD,HMMSmart_RING - no_errors ITGA7 3679 genome.wustl.edu 36 12 54368050 54368050 + Missense_Mutation SNP A A T novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 12 54368050 54368050 A T SNP ITGA7 NM_002206 human genbank 54_36p -1 reviewed missense c.3155 p.L1052Q 1.000 NULL superfamily_Integrin alpha N-terminal domain,HMMSmart_SM00191,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_Integrin domains,PatternScan_INTEGRIN_ALPHA,HMMPfam_Integrin_alpha - no_errors LOC442308 442308 genome.wustl.edu 36 7 55681188 55681188 + RNA SNP A A C novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 7 55681188 55681188 A C SNP LOC442308 NR_003598 human genbank 54_36p +1 provisional rna NULL NULL 1.000 - - - pseudogene OR9G4 283189 genome.wustl.edu 36 11 56267234 56267234 + Silent SNP G G A novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 11 56267234 56267234 G A SNP OR9G4 NM_001005284 human genbank 54_36p -1 provisional silent c.630 p.Y210 0.000 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors MIER3 166968 genome.wustl.edu 36 5 56269227 56269227 + Missense_Mutation SNP G G C novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 5 56269227 56269227 G C SNP MIER3 NM_152622 human genbank 54_36p -1 validated missense c.371 p.A124G 1.000 NULL PatternScan_EF_HAND_1,HMMPfam_ELM2,superfamily_Homeodomain_like,HMMSmart_SANT,HMMPfam_Myb_DNA-binding - no_errors TBX2 6909 genome.wustl.edu 36 17 56835257 56835257 + Silent SNP C T T novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 17 56835257 56835257 C T SNP TBX2 NM_005994 human genbank 54_36p +1 validated silent c.687 p.A229 1.000 superfamily_P53_like_DNA_bnd,HMMSmart_TBOX,HMMPfam_T-box superfamily_P53_like_DNA_bnd,HMMSmart_TBOX,HMMPfam_T-box,PatternScan_TBOX_1,PatternScan_TBOX_2 - no_errors OR1S1 219959 genome.wustl.edu 36 11 57739755 57739755 + Missense_Mutation SNP A A T novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 11 57739755 57739755 A T SNP OR1S1 NM_001004458 human genbank 54_36p +1 provisional missense c.963 p.K321N 0.000 superfamily_SSF81321 PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1 - no_errors OR10Q1 219960 genome.wustl.edu 36 11 57752101 57752101 + Missense_Mutation SNP C C T novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 11 57752101 57752101 C T SNP OR10Q1 NM_001004471 human genbank 54_36p -1 provisional missense c.823 p.E275K 0.013 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors MS4A3 932 genome.wustl.edu 36 11 59585365 59585365 + Silent SNP G G T novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 11 59585365 59585365 G T SNP MS4A3 NM_006138 human genbank 54_36p +1 reviewed silent c.156 p.G52 0.974 NULL HMMPfam_CD20 - no_errors STMN3 50861 genome.wustl.edu 36 20 61743914 61743914 + Silent SNP C C T novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 20 61743914 61743914 C T SNP STMN3 NM_015894 human genbank 54_36p -1 reviewed silent c.474 p.L158 1.000 superfamily_Stathmin,HMMPfam_Stathmin superfamily_Stathmin,HMMPfam_Stathmin,PatternScan_STATHMIN_1,PatternScan_STATHMIN_2 - no_errors RTEL1 51750 genome.wustl.edu 36 20 61789514 61789514 + Missense_Mutation SNP C C G novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 20 61789514 61789514 C G SNP RTEL1 NM_032957 human genbank 54_36p +1 reviewed missense c.1428 p.I476M 1.000 NULL superfamily_SSF52540,HMMSmart_DEXDc2,HMMPfam_ResIII,HMMPfam_DEAD_2,HMMSmart_HELICc2,superfamily_SSF57850 - no_errors FAM96A 84191 genome.wustl.edu 36 15 62167833 62167833 + Silent SNP C C T novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 15 62167833 62167833 C T SNP FAM96A ENST00000380290 human ensembl 54_36p -1 known silent c.291 p.V97 0.015 HMMPfam_DUF59 HMMPfam_DUF59 - no_stop_codon ROR1 4919 genome.wustl.edu 36 1 64397412 64397412 + Silent SNP C C T novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 1 64397412 64397412 C T SNP ROR1 NM_005012 human genbank 54_36p +1 validated silent c.1335 p.H445 0.300 NULL superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_Fz,superfamily_Kringle-like,HMMSmart_SM00130,HMMPfam_Kringle,PatternScan_KRINGLE_1,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_TYR - no_errors STARD8 9754 genome.wustl.edu 36 X 67854175 67854175 + Missense_Mutation SNP A A T novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 X 67854175 67854175 A T SNP STARD8 NM_014725 human genbank 54_36p +1 validated missense c.454 p.S152C 0.000 NULL superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP,superfamily_Bet v1-like,HMMPfam_START,HMMSmart_SM00234 - no_errors MYO9A 4649 genome.wustl.edu 36 15 69957616 69957616 + Missense_Mutation SNP C C T novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 15 69957616 69957616 C T SNP MYO9A NM_006901 human genbank 54_36p -1 validated missense c.5750 p.G1917E 1.000 NULL HMMPfam_RA,HMMSmart_SM00314,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,HMMSmart_SM00015,HMMPfam_IQ,superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP - no_errors LOC220077 220077 genome.wustl.edu 36 11 71639688 71639688 + RNA SNP G G T novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 11 71639688 71639688 G T SNP LOC220077 XR_017002 human genbank 54_36p -1 model rna NULL NULL 0.000 - - - no_errors GOLGA6 342096 genome.wustl.edu 36 15 72151021 72151021 + Silent SNP C C T novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 15 72151021 72151021 C T SNP GOLGA6 NM_001038640 human genbank 54_36p -1 validated silent c.1623 p.K541 0.994 NULL NULL - no_errors COMMD4 54939 genome.wustl.edu 36 15 73418475 73418475 + Missense_Mutation SNP T T A novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 15 73418475 73418475 T A SNP COMMD4 NM_017828 human genbank 54_36p +1 validated missense c.278 p.L93Q 1.000 HMMPfam_HCaRG HMMPfam_HCaRG - no_errors DCTN1 1639 genome.wustl.edu 36 2 74443794 74443794 + Missense_Mutation SNP A A T novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 2 74443794 74443794 A T SNP DCTN1 NM_004082 human genbank 54_36p -1 reviewed missense c.3364 p.S1122T 0.995 NULL superfamily_Cap-Gly domain,HMMPfam_CAP_GLY,PatternScan_CAP_GLY_1,superfamily_Spectrin repeat - no_errors AK5 26289 genome.wustl.edu 36 1 77536117 77536117 + Missense_Mutation SNP T T C novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 1 77536117 77536117 T C SNP AK5 NM_174858 human genbank 54_36p +1 reviewed missense c.596 p.I199T 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_ADK HMMPfam_Dpy-30,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_ADK,PatternScan_ADENYLATE_KINASE - no_errors ALPK3 57538 genome.wustl.edu 36 15 83185033 83185033 + Missense_Mutation SNP G G A novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 15 83185033 83185033 G A SNP ALPK3 NM_020778 human genbank 54_36p +1 validated missense c.2125 p.E709K 0.003 NULL superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Protein kinase-like (PK-like),HMMPfam_Alpha_kinase,HMMSmart_SM00811 - no_errors TCF7L1 83439 genome.wustl.edu 36 2 85214503 85214503 + Missense_Mutation SNP T T A novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 2 85214503 85214503 T A SNP TCF7L1 NM_031283 human genbank 54_36p +1 provisional missense c.185 p.L62Q 1.000 HMMPfam_CTNNB1_binding HMMPfam_CTNNB1_binding,superfamily_HMG-box,HMMSmart_HMG,HMMPfam_HMG_box - no_errors PRDM7 11105 genome.wustl.edu 36 16 88655376 88655376 + Missense_Mutation SNP G A A novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 16 88655376 88655376 G A SNP PRDM7 NM_001098173 human genbank 54_36p -1 reviewed missense c.935 p.S312L 0.060 NULL superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMSmart_SM00349,HMMPfam_KRAB,HMMPfam_SSXRD - no_errors MDN1 23195 genome.wustl.edu 36 6 90440688 90440688 + Missense_Mutation SNP G G C novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 6 90440688 90440688 G C SNP MDN1 NM_014611 human genbank 54_36p -1 provisional missense c.13103 p.P4368R 0.998 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_vWA-like,HMMSmart_SM00327 - no_errors DECR1 1666 genome.wustl.edu 36 8 91082935 91082935 + Silent SNP C C T novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 8 91082935 91082935 C T SNP DECR1 NM_001359 human genbank 54_36p +1 reviewed silent c.39 p.S13 0.010 NULL PatternScan_ADH_SHORT,superfamily_NAD(P)-bd,HMMPfam_adh_short - no_errors SLIT1 6585 genome.wustl.edu 36 10 98813962 98813962 + Silent SNP G G A novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 10 98813962 98813962 G A SNP SLIT1 NM_003061 human genbank 54_36p -1 validated silent c.582 p.T194 1.000 superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1 HMMPfam_LRRNT,HMMSmart_SM00013,superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00365,HMMSmart_SM00082,HMMPfam_LRRCT,superfamily_EGF/Laminin,HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_CA,HMMSmart_SM00274,PatternScan_ASX_HYDROXYL,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,HMMSmart_SM00041,PatternScan_CTCK_1 - no_errors LOC440313 440313 genome.wustl.edu 36 15 99142033 99142033 + RNA SNP C C T novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 15 99142033 99142033 C T SNP LOC440313 XR_041905 human genbank 54_36p -1 model rna NULL NULL 0.000 - - - no_errors POU3F2 5454 genome.wustl.edu 36 6 99390258 99390258 + Missense_Mutation SNP A A G novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 6 99390258 99390258 A G SNP POU3F2 NM_005604 human genbank 54_36p +1 validated missense c.788 p.D263G 1.000 HMMPfam_Pou,HMMSmart_SM00352 HMMPfam_Pou,HMMSmart_SM00352,superfamily_lambda repressor-like DNA-binding domains,PatternScan_POU_1,PatternScan_POU_2,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1 - no_errors PVRIG 79037 genome.wustl.edu 36 7 99655544 99655544 + Silent SNP C C A novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 7 99655544 99655544 C A SNP PVRIG NM_024070 human genbank 54_36p +1 validated silent c.75 p.T25 0.031 NULL NULL - no_errors COL11A1 1301 genome.wustl.edu 36 1 103263744 103263744 + Missense_Mutation SNP T T A novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 1 103263744 103263744 T A SNP COL11A1 NM_080629 human genbank 54_36p -1 reviewed missense c.947 p.D316V 1.000 NULL HMMSmart_TSPN,superfamily_ConA_like_lec_gl,HMMSmart_LamG,HMMPfam_Laminin_G_2,HMMPfam_Collagen,HMMSmart_COLFI,HMMPfam_COLFI - no_errors COL4A5 1287 genome.wustl.edu 36 X 107817515 107817515 + Missense_Mutation SNP A A C novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 X 107817515 107817515 A C SNP COL4A5 NM_033380 human genbank 54_36p +1 reviewed missense c.4463 p.Q1488P 0.011 superfamily_C-type_lectin_fold,HMMPfam_C4,HMMSmart_C4 HMMPfam_Collagen,superfamily_C-type_lectin_fold,HMMPfam_C4,HMMSmart_C4 - no_errors F7 2155 genome.wustl.edu 36 13 112818014 112818014 + Missense_Mutation SNP G G T novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 13 112818014 112818014 G T SNP F7 NM_000131 human genbank 54_36p +1 reviewed missense c.470 p.G157V 0.994 superfamily_EGF/Laminin,HMMSmart_SM00181 HMMSmart_SM00069,superfamily_GLA-domain,HMMPfam_Gla,PatternScan_GLA_1,PatternScan_EGF_CA,HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_ASX_HYDROXYL,PatternScan_EGF_1,superfamily_EGF/Laminin,PatternScan_EGF_2,superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER - no_errors GTPBP8 29083 genome.wustl.edu 36 3 114192750 114192750 + Missense_Mutation SNP G G C novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 3 114192750 114192750 G C SNP GTPBP8 NM_014170 human genbank 54_36p +1 validated missense c.214 p.D72H 0.999 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_MMR_HSR1 - no_errors CD2 914 genome.wustl.edu 36 1 117098962 117098962 + Missense_Mutation SNP C C A novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 1 117098962 117098962 C A SNP CD2 NM_001767 human genbank 54_36p +1 validated missense c.248 p.T83K 0.000 HMMPfam_V-set,superfamily_Immunoglobulin HMMPfam_V-set,superfamily_Immunoglobulin,HMMPfam_C2-set - no_errors CD2 914 genome.wustl.edu 36 1 117112787 117112787 + Missense_Mutation SNP G G C novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 1 117112787 117112787 G C SNP CD2 NM_001767 human genbank 54_36p +1 validated missense c.915 p.Q305H 0.984 NULL HMMPfam_C2-set,HMMPfam_V-set,superfamily_Immunoglobulin - no_errors HPD 3242 genome.wustl.edu 36 12 120771978 120771978 + Missense_Mutation SNP T T A novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 12 120771978 120771978 T A SNP HPD NM_002150 human genbank 54_36p -1 validated missense c.516 p.K172N 1.000 superfamily_Glyoxalase/Bleomycin resistance protein/Dihydroxybiphenyl dioxygenase superfamily_Glyoxalase/Bleomycin resistance protein/Dihydroxybiphenyl dioxygenase,HMMPfam_Glyoxalase - no_errors ITGB5 3693 genome.wustl.edu 36 3 126060795 126060795 + Silent SNP G G C novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 3 126060795 126060795 G C SNP ITGB5 NM_002213 human genbank 54_36p -1 provisional silent c.345 p.A115 0.000 HMMPfam_Integrin_beta,HMMSmart_INB HMMSmart_PSI,HMMPfam_Integrin_beta,HMMSmart_INB,superfamily_SSF53300,HMMSmart_VWA,superfamily_SSF69179,HMMPfam_EGF_2,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_INTEGRIN_BETA,superfamily_SSF57196,HMMSmart_EGF,superfamily_Integrin_bsu_tail,HMMPfam_Integrin_B_tail,HMMPfam_Integrin_b_cyt - no_errors LAMC3 10319 genome.wustl.edu 36 9 132952830 132952830 + Silent SNP G G T novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 9 132952830 132952830 G T SNP LAMC3 NM_006059 human genbank 54_36p +1 reviewed silent c.4377 p.R1459 0.041 NULL HMMSmart_LamNT,HMMPfam_Laminin_N,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_SSF57196,PatternScan_EGF_1,PatternScan_EGF_LAM_1,HMMPfam_Laminin_B,PatternScan_EGF_2 - no_errors TRAPPC9 83696 genome.wustl.edu 36 8 141530315 141530315 + Silent SNP G G T novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 8 141530315 141530315 G T SNP TRAPPC9 NM_031466 human genbank 54_36p -1 provisional silent c.634 p.R212 1.000 NULL HMMPfam_Trs120 - no_errors LRRC61 65999 genome.wustl.edu 36 7 149665583 149665583 + Missense_Mutation SNP G G A novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 7 149665583 149665583 G A SNP LRRC61 NM_023942 human genbank 54_36p +1 validated missense c.700 p.D234N 0.935 NULL superfamily_SSF52058,HMMPfam_LRR_1 - no_errors SYNE1 23345 genome.wustl.edu 36 6 152713097 152713097 + Missense_Mutation SNP C A A novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 6 152713097 152713097 C A SNP SYNE1 NM_182961 human genbank 54_36p -1 reviewed missense c.11800 p.V3934F 1.000 superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150 superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_Spectrin repeat,HMMSmart_SM00150,HMMPfam_Spectrin,HMMPfam_KASH - no_errors IGSF9 57549 genome.wustl.edu 36 1 158168958 158168958 + Missense_Mutation SNP C C T novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 1 158168958 158168958 C T SNP IGSF9 NM_020789 human genbank 54_36p -1 validated missense c.1165 p.G389R 0.997 superfamily_Immunoglobulin HMMPfam_V-set,HMMSmart_SM00409,superfamily_Immunoglobulin,HMMSmart_SM00408,HMMPfam_I-set,HMMPfam_ig,HMMSmart_SM00060,HMMPfam_fn3,superfamily_Fibronectin type III - no_errors ATP1A2 477 genome.wustl.edu 36 1 158366968 158366968 + Missense_Mutation SNP C C A novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 1 158366968 158366968 C A SNP ATP1A2 NM_000702 human genbank 54_36p +1 reviewed missense c.1784 p.A595D 1.000 superfamily_SSF81665,superfamily_SSF56784,HMMPfam_Hydrolase HMMPfam_Cation_ATPase_N,superfamily_SSF81665,HMMPfam_E1-E2_ATPase,superfamily_SSF81653,superfamily_SSF56784,HMMPfam_Hydrolase,PatternScan_ATPASE_E1_E2,superfamily_SSF81660,HMMPfam_Cation_ATPase_C - no_errors DOCK2 1794 genome.wustl.edu 36 5 169061929 169061929 + Missense_Mutation SNP T T G novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 5 169061929 169061929 T G SNP DOCK2 NM_004946 human genbank 54_36p +1 validated missense c.1303 p.F435V 1.000 NULL superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2,superfamily_Cytochrome c - no_errors G6PC2 57818 genome.wustl.edu 36 2 169471472 169471472 + Missense_Mutation SNP T T C novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 2 169471472 169471472 T C SNP G6PC2 NM_021176 human genbank 54_36p +1 reviewed missense c.493 p.C165R 1.000 superfamily_Acid phosphatase/Vanadium-dependent haloperoxidase,HMMSmart_SM00014,HMMPfam_PAP2 superfamily_Acid phosphatase/Vanadium-dependent haloperoxidase,HMMSmart_SM00014,HMMPfam_PAP2 - no_errors TNFSF10 8743 genome.wustl.edu 36 3 173707215 173707215 + Missense_Mutation SNP C C T novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 3 173707215 173707215 C T SNP TNFSF10 NM_003810 human genbank 54_36p -1 reviewed missense c.607 p.D203N 0.000 superfamily_TNF-like,HMMSmart_SM00207,HMMPfam_TNF superfamily_TNF-like,HMMSmart_SM00207,HMMPfam_TNF,PatternScan_TNF_1 - no_errors B4GALT7 11285 genome.wustl.edu 36 5 176963806 176963806 + Missense_Mutation SNP G G C novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 5 176963806 176963806 G C SNP B4GALT7 NM_007255 human genbank 54_36p +1 reviewed missense c.71 p.G24A 0.758 NULL superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Galactosyl_T_2 - no_errors LRRC33 375387 genome.wustl.edu 36 3 197872879 197872879 + Missense_Mutation SNP C C G novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 3 197872879 197872879 C G SNP LRRC33 NM_198565 human genbank 54_36p +1 provisional missense c.1968 p.I656M 0.013 NULL superfamily_SSF52058,HMMPfam_LRR_1,HMMSmart_LRR_TYP - no_errors CASP8 841 genome.wustl.edu 36 2 201839737 201839737 + Missense_Mutation SNP A A T novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 2 201839737 201839737 A T SNP CASP8 NM_001080125 human genbank 54_36p +1 reviewed missense c.460 p.R154W 0.823 superfamily_DEATH domain superfamily_DEATH domain,HMMSmart_SM00031,HMMPfam_DED,superfamily_Caspase-like,HMMSmart_SM00115,HMMPfam_Peptidase_C14,PatternScan_CASPASE_HIS,PatternScan_CASPASE_CYS - no_errors SERTAD4 56256 genome.wustl.edu 36 1 208482122 208482122 + Silent SNP C C G novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 1 208482122 208482122 C G SNP SERTAD4 NM_019605 human genbank 54_36p +1 validated silent c.888 p.P296 0.003 NULL HMMPfam_SERTA - no_errors CPS1 1373 genome.wustl.edu 36 2 211172483 211172483 + Missense_Mutation SNP C C T novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 2 211172483 211172483 C T SNP CPS1 NM_001875 human genbank 54_36p +1 reviewed missense c.1502 p.P501L 1.000 superfamily_PreATP-grasp domain,HMMPfam_CPSase_L_chain superfamily_Carbamoyl phosphate synthetase small subunit N-terminal domain,HMMPfam_CPSase_sm_chain,superfamily_Class I glutamine amidotransferase-like,HMMPfam_GATase,superfamily_PreATP-grasp domain,HMMPfam_CPSase_L_chain,HMMPfam_CPSase_L_D2,superfamily_Glutathione synthetase ATP-binding domain-like,PatternScan_CPSASE_1,PatternScan_CPSASE_2,superfamily_Carbamoyl phosphate synthetase large subunit connection domain,HMMPfam_CPSase_L_D3,superfamily_Methylglyoxal synthase-like,HMMPfam_MGS - no_errors EPRS 2058 genome.wustl.edu 36 1 218265110 218265110 + Missense_Mutation SNP T T C novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 1 218265110 218265110 T C SNP EPRS NM_004446 human genbank 54_36p -1 reviewed missense c.737 p.E246G 1.000 superfamily_SSF52374,HMMPfam_tRNA-synt_1c superfamily_GST_C_like,superfamily_SSF52374,HMMPfam_tRNA-synt_1c,PatternScan_AA_TRNA_LIGASE_I,HMMPfam_tRNA-synt_1c_C,superfamily_Ribosomal_L25rel,superfamily_S15/NS1_bind,HMMPfam_WHEP-TRS,PatternScan_WHEP_TRS_1,superfamily_SSF55681,HMMPfam_tRNA-synt_2b,superfamily_Anticodon_bd,HMMPfam_HGTP_anticodon,superfamily_Pro-tRNA_synth_II_C,HMMPfam_ProRS-C_1 - no_errors UGT1A4 54657 genome.wustl.edu 36 2 234292650 234292650 + Missense_Mutation SNP G G A novel unknown TCGA-13-2061-01A-01D-1526-09 TCGA-13-2061-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0b9de923-d534-4822-bf1a-56ea599bf007 b8882c3b-a721-4993-ac63-d57990255883 2 234292650 234292650 G A SNP UGT1A4 NM_007120 human genbank 54_36p +1 reviewed missense c.445 p.V149I 0.175 superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT,PatternScan_UDPGT - no_errors