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 WDR81 124997 genome.wustl.edu 36 17 1583602 1583602 + Missense_Mutation SNP C C A novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 17 1583602 1583602 C A SNP WDR81 ENST00000409644 human ensembl 54_36p +1 known missense c.4521 p.H1507Q 0.997 superfamily_WD40 repeat-like superfamily_BEACH domain,HMMPfam_Beach,superfamily_WD40 repeat-like,PatternScan_FBPASE,HMMSmart_SM00320,HMMPfam_WD40 - no_errors SERPINB9 5272 genome.wustl.edu 36 6 2835403 2835403 + Missense_Mutation SNP G G A novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 6 2835403 2835403 G A SNP SERPINB9 NM_004155 human genbank 54_36p -1 validated missense c.1124 p.S375L 0.760 HMMPfam_Serpin,superfamily_Prot_inh_serpin,HMMSmart_SERPIN HMMPfam_Serpin,superfamily_Prot_inh_serpin,HMMSmart_SERPIN,PatternScan_SERPIN - no_errors KIF1C 10749 genome.wustl.edu 36 17 4864560 4864560 + Silent SNP G G A novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 17 4864560 4864560 G A SNP KIF1C NM_006612 human genbank 54_36p +1 provisional silent c.1800 p.P600 0.996 NULL HMMSmart_KISc,superfamily_SSF52540,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_SMAD_FHA,HMMSmart_FHA,HMMPfam_FHA - no_errors BRD4 23476 genome.wustl.edu 36 19 15227124 15227124 + Silent SNP C C T novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 19 15227124 15227124 C T SNP BRD4 NM_058243 human genbank 54_36p -1 reviewed silent c.2031 p.K677 0.998 NULL superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1 - no_errors PSIP1 11168 genome.wustl.edu 36 9 15458838 15458838 + Missense_Mutation SNP G G C novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 9 15458838 15458838 G C SNP PSIP1 NM_033222 human genbank 54_36p -1 validated missense c.1210 p.R404G 1.000 NULL superfamily_Tudor/PWWP/MBT,HMMPfam_PWWP,HMMSmart_SM00293 - no_errors PTER 9317 genome.wustl.edu 36 10 16593191 16593191 + Missense_Mutation SNP G G T novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 10 16593191 16593191 G T SNP PTER NM_001001484 human genbank 54_36p +1 validated missense c.980 p.R327I 1.000 superfamily_Metallo-dependent hydrolases,HMMPfam_PTE superfamily_Metallo-dependent hydrolases,HMMPfam_PTE,PatternScan_PHOSPHOTRIESTERASE_1 - no_errors FLCN 201163 genome.wustl.edu 36 17 17075923 17075923 + Splice_Site SNP T T C novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 17 17075923 17075923 T C SNP FLCN NM_144997 human genbank 54_36p -1 reviewed splice_site c.1-2 e1-2 0.010 - - - no_errors ATP13A2 23400 genome.wustl.edu 36 1 17199346 17199346 + Missense_Mutation SNP C C A novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 1 17199346 17199346 C A SNP ATP13A2 NM_022089 human genbank 54_36p -1 reviewed missense c.889 p.V297L 0.960 superfamily_Calcium ATPase transmembrane domain M,HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A superfamily_Calcium ATPase transmembrane domain M,HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,HMMPfam_Hydrolase,PatternScan_ATPASE_E1_E2,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_HAD-like,PatternScan_COF_2 - no_errors GSC2 2928 genome.wustl.edu 36 22 17517290 17517290 + Missense_Mutation SNP G C C novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 22 17517290 17517290 G C SNP GSC2 NM_005315 human genbank 54_36p -1 reviewed missense c.399 p.F133L 1.000 superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1 - no_errors DRG2 1819 genome.wustl.edu 36 17 17944625 17944625 + Silent SNP C C A novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 17 17944625 17944625 C A SNP DRG2 NM_001388 human genbank 54_36p +1 reviewed silent c.558 p.G186 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_MMR_HSR1,PatternScan_GTP1_OBG,HMMPfam_TGS - no_errors LLGL1 3996 genome.wustl.edu 36 17 18080701 18080701 + Missense_Mutation SNP C C T novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 17 18080701 18080701 C T SNP LLGL1 NM_004140 human genbank 54_36p +1 reviewed missense c.1408 p.L470F 0.837 superfamily_WD40 repeat-like HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_LLGL,HMMPfam_WD40 - no_errors ITPRIPL2 162073 genome.wustl.edu 36 16 19034824 19034824 + Missense_Mutation SNP C C A novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 16 19034824 19034824 C A SNP ITPRIPL2 NM_001034841 human genbank 54_36p +1 validated missense c.1540 p.R514S 1.000 NULL NULL - no_errors NKX2-4 644524 genome.wustl.edu 36 20 21324927 21324927 + Silent SNP C C A novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 20 21324927 21324927 C A SNP NKX2-4 NM_033176 human genbank 54_36p -1 provisional silent c.687 p.T229 1.000 superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1 superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1 - no_errors HERC2 8924 genome.wustl.edu 36 15 26147985 26147985 + Silent SNP C C T novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 15 26147985 26147985 C T SNP HERC2 NM_004667 human genbank 54_36p -1 validated silent c.5223 p.Q1741 1.000 NULL superfamily_RCC1/BLIP-II,HMMPfam_RCC1,HMMSmart_SM00706,superfamily_Cytochrome b5-like heme/steroid binding domain,HMMPfam_Cyt-b5,HMMPfam_MIB_HERC2,HMMPfam_ZZ,HMMSmart_SM00291,PatternScan_ZF_ZZ_1,superfamily_Galactose-binding domain-like,PatternScan_PROTEIN_KINASE_ATP,PatternScan_RCC1_2,superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT - no_errors DPYSL2 1808 genome.wustl.edu 36 8 26540648 26540648 + Missense_Mutation SNP A A G novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 8 26540648 26540648 A G SNP DPYSL2 NM_001386 human genbank 54_36p +1 validated missense c.541 p.I181V 1.000 superfamily_Composite domain of metallo-dependent hydrolases,HMMPfam_Amidohydro_1,superfamily_Metallo-dependent hydrolases superfamily_Composite domain of metallo-dependent hydrolases,HMMPfam_Amidohydro_1,superfamily_Metallo-dependent hydrolases - no_errors TRIM39 56658 genome.wustl.edu 36 6 30417856 30417856 + Silent SNP C C T novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 6 30417856 30417856 C T SNP TRIM39 NM_021253 human genbank 54_36p +1 reviewed silent c.1398 p.A466 0.677 HMMPfam_SPRY,HMMSmart_SM00449 superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_SM00336,HMMSmart_SM00589,HMMPfam_SPRY,HMMSmart_SM00449 - no_errors SPAG4L 140732 genome.wustl.edu 36 20 31054359 31054359 + Silent SNP G G A novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 20 31054359 31054359 G A SNP SPAG4L NM_080675 human genbank 54_36p -1 validated silent c.105 p.S35 0.710 NULL HMMPfam_Sad1_UNC - no_errors DMD 1756 genome.wustl.edu 36 X 31097592 31097592 + Missense_Mutation SNP T T C novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 X 31097592 31097592 T C SNP DMD NM_004006 human genbank 54_36p -1 reviewed missense c.10442 p.Q3481R 1.000 NULL superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,HMMPfam_Spectrin,superfamily_Spectrin repeat,HMMSmart_SM00150,superfamily_t-snare proteins,superfamily_WW domain,HMMSmart_SM00456,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_EF-hand,HMMPfam_efhand_1,HMMPfam_efhand_2,HMMPfam_ZZ,HMMSmart_SM00291,PatternScan_ZF_ZZ_1,superfamily_Prefoldin - no_errors ITGAD 3681 genome.wustl.edu 36 16 31316691 31316691 + Missense_Mutation SNP G G A novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 16 31316691 31316691 G A SNP ITGAD ENST00000316569 human ensembl 54_36p +1 known missense c.104 p.R35H 0.000 HMMSmart_SM00327 HMMSmart_SM00327,HMMPfam_VWA,superfamily_vWA-like - no_start_codon DOM3Z 1797 genome.wustl.edu 36 6 32045722 32045722 + Missense_Mutation SNP C C G novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 6 32045722 32045722 C G SNP DOM3Z NM_005510 human genbank 54_36p -1 reviewed missense c.1102 p.D368H 0.993 NULL HMMPfam_RAI1 - no_errors C4A 720 genome.wustl.edu 36 6 32103139 32103139 + Missense_Mutation SNP T T C novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 6 32103139 32103139 T C SNP C4A NM_007293 human genbank 54_36p +1 reviewed missense c.2741 p.V914A 0.992 NULL HMMPfam_A2M_N,HMMPfam_A2M_N_2,superfamily_Anaphylatoxin,HMMPfam_ANATO,HMMSmart_ANATO,PatternScan_ANAPHYLATOXIN_1,HMMPfam_A2M,superfamily_Terp_cyc_toroid,HMMPfam_Thiol-ester_cl,PatternScan_ALPHA_2_MACROGLOBULIN,HMMPfam_A2M_comp,superfamily_AM_receptor_bind,HMMPfam_A2M_recep,HMMSmart_C345C,HMMPfam_NTR - no_errors BSDC1 55108 genome.wustl.edu 36 1 32614516 32614516 + Missense_Mutation SNP C C G novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 1 32614516 32614516 C G SNP BSDC1 NM_018045 human genbank 54_36p -1 validated missense c.1141 p.D381H 1.000 NULL HMMPfam_BSD,HMMSmart_BSD - no_errors KCNE1 3753 genome.wustl.edu 36 21 34743503 34743503 + Silent SNP C C G novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 21 34743503 34743503 C G SNP KCNE1 NM_000219 human genbank 54_36p -1 reviewed silent c.300 p.L100 0.991 HMMPfam_ISK_Channel HMMPfam_ISK_Channel - no_errors C20orf118 140711 genome.wustl.edu 36 20 34942507 34942507 + Silent SNP C C G novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 20 34942507 34942507 C G SNP C20orf118 NM_080628 human genbank 54_36p +1 predicted silent c.378 p.L126 0.995 HMMSmart_TLDc,HMMPfam_TLD HMMSmart_TLDc,HMMPfam_TLD - no_errors GPATCH1 55094 genome.wustl.edu 36 19 38300695 38300695 + Missense_Mutation SNP G G C novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 19 38300695 38300695 G C SNP GPATCH1 NM_018025 human genbank 54_36p +1 provisional missense c.2321 p.G774A 0.492 NULL HMMPfam_DUF1604,HMMSmart_G_patch,HMMPfam_G-patch - no_errors SCN10A 6336 genome.wustl.edu 36 3 38768868 38768868 + Missense_Mutation SNP C C T novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 3 38768868 38768868 C T SNP SCN10A NM_006514 human genbank 54_36p -1 validated missense c.1601 p.R534Q 0.038 NULL superfamily_SSF81324,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc - no_errors DAB2 1601 genome.wustl.edu 36 5 39418927 39418927 + Silent SNP G G A novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 5 39418927 39418927 G A SNP DAB2 NM_001343 human genbank 54_36p -1 validated silent c.891 p.D297 0.912 NULL superfamily_PH domain-like,HMMSmart_SM00462,HMMPfam_PID,PatternScan_PFKB_KINASES_1 - no_errors RBM47 54502 genome.wustl.edu 36 4 40134964 40134964 + Missense_Mutation SNP A A T novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 4 40134964 40134964 A T SNP RBM47 NM_001098634 human genbank 54_36p -1 validated missense c.704 p.I235N 1.000 NULL superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1 - no_errors SLC14A2 8170 genome.wustl.edu 36 18 41477962 41477962 + Missense_Mutation SNP C C G novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 18 41477962 41477962 C G SNP SLC14A2 NM_007163 human genbank 54_36p +1 validated missense c.1190 p.P397R 0.822 HMMPfam_UT HMMPfam_UT,PatternScan_MULTICOPPER_OXIDASE1 - no_errors HIVEP3 59269 genome.wustl.edu 36 1 41821456 41821456 + Missense_Mutation SNP G G T novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 1 41821456 41821456 G T SNP HIVEP3 NM_024503 human genbank 54_36p -1 validated missense c.1600 p.P534T 1.000 NULL PatternScan_AIPM_HOMOCIT_SYNTH_1,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_C2H2 and C2HC zinc fingers - no_errors GLI3 2737 genome.wustl.edu 36 7 41972538 41972538 + Silent SNP C C T novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 7 41972538 41972538 C T SNP GLI3 NM_000168 human genbank 54_36p -1 reviewed silent c.2658 p.P886 0.998 NULL superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors SPG11 80208 genome.wustl.edu 36 15 42738701 42738701 + Missense_Mutation SNP G G A novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 15 42738701 42738701 G A SNP SPG11 NM_025137 human genbank 54_36p -1 reviewed missense c.535 p.P179S 1.000 NULL PatternScan_GLYCOSYL_HYDROL_F1_1 - no_errors GTF2F2 2963 genome.wustl.edu 36 13 44621918 44621918 + Missense_Mutation SNP A A C novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 13 44621918 44621918 A C SNP GTF2F2 NM_004128 human genbank 54_36p +1 validated missense c.154 p.T52P 1.000 superfamily_TFIIF_interactn,HMMPfam_TFIIF_beta superfamily_TFIIF_interactn,HMMPfam_TFIIF_beta,superfamily_SSF46785 - no_errors MAP4 4134 genome.wustl.edu 36 3 48015254 48015254 + Missense_Mutation SNP A A C novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 3 48015254 48015254 A C SNP MAP4 NM_002375 human genbank 54_36p -1 reviewed missense c.101 p.F34C 1.000 NULL HMMPfam_Tubulin-binding,PatternScan_TAU_MAP - no_errors LHCGR 3973 genome.wustl.edu 36 2 48768595 48768595 + Missense_Mutation SNP A A T novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 2 48768595 48768595 A T SNP LHCGR NM_000233 human genbank 54_36p -1 reviewed missense c.1845 p.N615K 1.000 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 superfamily_L domain-like,superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors ENSG00000205035 0 genome.wustl.edu 36 11 49554473 49554473 + Missense_Mutation SNP G G T novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 11 49554473 49554473 G T SNP ENSG00000205035 ENST00000357667 human ensembl 54_36p +1 novel missense c.100 p.D34Y 1.000 superfamily_Periplasmic binding protein-like I superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor - no_start_codon:no_stop_codon TSHZ2 128553 genome.wustl.edu 36 20 51306468 51306468 + Missense_Mutation SNP G G A novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 20 51306468 51306468 G A SNP TSHZ2 NM_173485 human genbank 54_36p +1 validated missense c.3064 p.E1022K 1.000 NULL PatternScan_HOMEOBOX_1,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_HOX,HMMPfam_Homeobox,HMMPfam_zf-C2H2 - no_errors SOAT2 8435 genome.wustl.edu 36 12 51795649 51795649 + Missense_Mutation SNP G G A novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 12 51795649 51795649 G A SNP SOAT2 NM_003578 human genbank 54_36p +1 reviewed missense c.652 p.V218M 1.000 HMMPfam_MBOAT HMMPfam_MBOAT - no_errors PRKD2 25865 genome.wustl.edu 36 19 51889111 51889111 + Silent SNP G G A novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 19 51889111 51889111 G A SNP PRKD2 NM_001079880 human genbank 54_36p -1 reviewed silent c.1437 p.G479 1.000 superfamily_PH domain-like,HMMSmart_SM00233 superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors LOC100128353 0 genome.wustl.edu 36 3 57480760 57480760 + RNA SNP G G A novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 3 57480760 57480760 G A SNP LOC100128353 XR_039610 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene TLN2 83660 genome.wustl.edu 36 15 60735493 60735493 + Silent SNP G G A novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 15 60735493 60735493 G A SNP TLN2 NM_015059 human genbank 54_36p +1 reviewed silent c.576 p.T192 0.690 HMMSmart_B41,HMMPfam_FERM_N PatternScan_FERM_1,HMMSmart_B41,HMMPfam_FERM_N,superfamily_FERM_3-hlx,HMMPfam_FERM_M,PatternScan_FERM_2,superfamily_SSF50729,superfamily_Talin_cent,HMMPfam_Talin_middle,superfamily_SSF109885,HMMPfam_VBS,HMMSmart_ILWEQ,HMMPfam_I_LWEQ - no_errors GAL3ST3 89792 genome.wustl.edu 36 11 65567273 65567273 + Missense_Mutation SNP C C T novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 11 65567273 65567273 C T SNP GAL3ST3 NM_033036 human genbank 54_36p -1 reviewed missense c.577 p.A193T 0.972 HMMPfam_Gal-3-0_sulfotr HMMPfam_Gal-3-0_sulfotr - no_errors MTL5 9633 genome.wustl.edu 36 11 68271260 68271260 + Missense_Mutation SNP T T A novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 11 68271260 68271260 T A SNP MTL5 NM_004923 human genbank 54_36p -1 reviewed missense c.622 p.N208Y 0.760 NULL HMMPfam_CXC - no_errors IGHMBP2 3508 genome.wustl.edu 36 11 68463615 68463615 + Missense_Mutation SNP G G A novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 11 68463615 68463615 G A SNP IGHMBP2 NM_002180 human genbank 54_36p +1 reviewed missense c.2822 p.R941Q 1.000 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMSmart_SM00382,HMMSmart_SM00393,superfamily_R3H domain,HMMPfam_R3H,HMMSmart_SM00154 - no_errors HYDIN 54768 genome.wustl.edu 36 16 69653689 69653689 + Missense_Mutation SNP C C A novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 16 69653689 69653689 C A SNP HYDIN NM_032821 human genbank 54_36p -1 validated missense c.2260 p.G754W 0.668 NULL superfamily_PapD-like,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors GDPD4 220032 genome.wustl.edu 36 11 76657209 76657209 + Missense_Mutation SNP C C T novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 11 76657209 76657209 C T SNP GDPD4 NM_182833 human genbank 54_36p -1 provisional missense c.648 p.M216I 1.000 superfamily_PLC-like_Pdiesterase_TIM-brl,HMMPfam_GDPD superfamily_PLC-like_Pdiesterase_TIM-brl,HMMPfam_GDPD - no_errors POMT2 29954 genome.wustl.edu 36 14 76816561 76816561 + Splice_Site SNP T T A novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 14 76816561 76816561 T A SNP POMT2 NM_013382 human genbank 54_36p -1 reviewed splice_site c.1654-2 e16-2 1.000 - - - no_errors AP3B1 8546 genome.wustl.edu 36 5 77559766 77559766 + Missense_Mutation SNP A A T novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 5 77559766 77559766 A T SNP AP3B1 NM_003664 human genbank 54_36p -1 reviewed missense c.333 p.D111E 1.000 HMMPfam_Adaptin_N,superfamily_ARM repeat HMMPfam_Adaptin_N,superfamily_ARM repeat - no_errors ZSCAN2 54993 genome.wustl.edu 36 15 82966245 82966245 + Missense_Mutation SNP G G C novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 15 82966245 82966245 G C SNP ZSCAN2 NM_181877 human genbank 54_36p +1 reviewed missense c.1815 p.Q605H 1.000 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 HMMPfam_SCAN,HMMSmart_SM00431,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors LPAR3 23566 genome.wustl.edu 36 1 85104078 85104078 + Missense_Mutation SNP C C T novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 1 85104078 85104078 C T SNP LPAR3 NM_012152 human genbank 54_36p -1 reviewed missense c.314 p.R105H 1.000 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors FLRT2 23768 genome.wustl.edu 36 14 85158959 85158959 + Missense_Mutation SNP T T C novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 14 85158959 85158959 T C SNP FLRT2 NM_013231 human genbank 54_36p +1 reviewed missense c.1348 p.Y450H 0.994 HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like superfamily_SSF52058,HMMPfam_LRRNT,HMMSmart_LRRNT,HMMPfam_LRR_1,HMMSmart_LRR_TYP,HMMSmart_LRRCT,HMMPfam_LRRCT,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like - no_errors HS2ST1 9653 genome.wustl.edu 36 1 87330878 87330878 + Missense_Mutation SNP T T G novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 1 87330878 87330878 T G SNP HS2ST1 NM_012262 human genbank 54_36p +1 reviewed missense c.526 p.F176V 1.000 HMMPfam_HS2ST,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMPfam_HS2ST,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors C14orf102 55051 genome.wustl.edu 36 14 89840070 89840070 + Missense_Mutation SNP G G A novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 14 89840070 89840070 G A SNP C14orf102 NM_017970 human genbank 54_36p -1 validated missense c.967 p.R323W 0.019 superfamily_Prenyl_trans,HMMPfam_DUF1740 superfamily_Prenyl_trans,HMMPfam_DUF1740 - no_errors GOLGA5 9950 genome.wustl.edu 36 14 92333973 92333973 + Missense_Mutation SNP G G C novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 14 92333973 92333973 G C SNP GOLGA5 NM_005113 human genbank 54_36p +1 reviewed missense c.438 p.K146N 0.004 NULL HMMPfam_Golgin_A5,superfamily_Prefoldin - no_errors GRID2 2895 genome.wustl.edu 36 4 94912656 94912656 + Missense_Mutation SNP G G C novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 4 94912656 94912656 G C SNP GRID2 NM_001510 human genbank 54_36p +1 validated missense c.3008 p.R1003P 1.000 NULL superfamily_SSF53822,HMMPfam_ANF_receptor,HMMSmart_PBPe,superfamily_SSF53850,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan - no_errors CHD1 1105 genome.wustl.edu 36 5 98235655 98235655 + Silent SNP C C T novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 5 98235655 98235655 C T SNP CHD1 NM_001270 human genbank 54_36p -1 reviewed silent c.3861 p.K1287 1.000 superfamily_Homeodomain-like superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_Chromo domain-like,HMMSmart_SM00298,HMMPfam_Chromo,PatternScan_CHROMO_1,HMMSmart_SM00487,HMMPfam_SNF2_N,HMMSmart_SM00490,HMMPfam_Helicase_C,superfamily_Homeodomain-like - no_errors LOC441734 441734 genome.wustl.edu 36 15 100111903 100111903 + Missense_Mutation SNP T G G novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 15 100111903 100111903 T G SNP LOC441734 XM_001715597 human genbank 54_36p +1 model missense c.1955 p.F652C 1.000 NULL NULL - no_start_codon CHST11 50515 genome.wustl.edu 36 12 103675363 103675363 + Silent SNP C C T novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 12 103675363 103675363 C T SNP CHST11 NM_018413 human genbank 54_36p +1 provisional silent c.711 p.F237 1.000 HMMPfam_Sulfotransfer_2 HMMPfam_Sulfotransfer_2 - no_errors RNF128 79589 genome.wustl.edu 36 X 105902951 105902951 + Missense_Mutation SNP G G C novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 X 105902951 105902951 G C SNP RNF128 NM_194463 human genbank 54_36p +1 reviewed missense c.637 p.V213L 1.000 superfamily_Transferrin receptor ectodomain apical domain superfamily_Transferrin receptor ectodomain apical domain,HMMPfam_PA,superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4 - no_errors ATM 472 genome.wustl.edu 36 11 107686117 107686117 + Missense_Mutation SNP T T G novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 11 107686117 107686117 T G SNP ATM NM_000051 human genbank 54_36p +1 reviewed missense c.5783 p.F1928C 1.000 superfamily_ARM repeat superfamily_ARM repeat,HMMPfam_FAT,superfamily_Protein kinase-like (PK-like),HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2,HMMPfam_FATC - no_errors OSTM1 28962 genome.wustl.edu 36 6 108472708 108472708 + Missense_Mutation SNP C C A novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 6 108472708 108472708 C A SNP OSTM1 NM_014028 human genbank 54_36p -1 reviewed missense c.979 p.A327S 1.000 HMMPfam_OSTMP1 HMMPfam_OSTMP1 - no_errors CD96 10225 genome.wustl.edu 36 3 112851326 112851326 + Missense_Mutation SNP G G A novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 3 112851326 112851326 G A SNP CD96 NM_198196 human genbank 54_36p +1 reviewed missense c.1741 p.E581K 0.999 NULL HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409 - no_errors TBX3 6926 genome.wustl.edu 36 12 113602107 113602107 + Silent SNP A A G novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 12 113602107 113602107 A G SNP TBX3 NM_016569 human genbank 54_36p -1 reviewed silent c.711 p.G237 0.998 superfamily_p53-like transcription factors,HMMSmart_SM00425,HMMPfam_T-box superfamily_p53-like transcription factors,HMMSmart_SM00425,HMMPfam_T-box,PatternScan_TBOX_1,PatternScan_TBOX_2 - no_errors ROS1 6098 genome.wustl.edu 36 6 117793058 117793058 + Missense_Mutation SNP G G C novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 6 117793058 117793058 G C SNP ROS1 NM_002944 human genbank 54_36p -1 reviewed missense c.2976 p.F992L 0.956 HMMSmart_FN3,superfamily_FN_III-like HMMSmart_FN3,HMMPfam_fn3,superfamily_FN_III-like,superfamily_SSF63825,HMMSmart_LY,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR,PatternScan_RECEPTOR_TYR_KIN_II - no_errors FBXO40 51725 genome.wustl.edu 36 3 122824055 122824055 + Silent SNP T T C novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 3 122824055 122824055 T C SNP FBXO40 NM_016298 human genbank 54_36p +1 validated silent c.1089 p.L363 0.835 NULL superfamily_TRAF domain-like,superfamily_F-box domain,HMMPfam_F-box - no_errors OR10G7 390265 genome.wustl.edu 36 11 123414733 123414733 + Silent SNP G G T novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 11 123414733 123414733 G T SNP OR10G7 NM_001004463 human genbank 54_36p -1 provisional silent c.186 p.T62 0.021 superfamily_SSF81321,HMMPfam_7tm_1 PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1 - no_errors CDON 50937 genome.wustl.edu 36 11 125336083 125336083 + Missense_Mutation SNP G G T novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 11 125336083 125336083 G T SNP CDON NM_016952 human genbank 54_36p -1 validated missense c.3759 p.S1253R 0.011 NULL superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_I-set,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3 - no_errors LAMA2 3908 genome.wustl.edu 36 6 129461144 129461144 + Missense_Mutation SNP T T C novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 6 129461144 129461144 T C SNP LAMA2 NM_000426 human genbank 54_36p +1 reviewed missense c.530 p.L177P 1.000 HMMSmart_LamNT,HMMPfam_Laminin_N,superfamily_Gal_bind_like HMMSmart_LamNT,HMMPfam_Laminin_N,superfamily_Gal_bind_like,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_ConA_like_lec_gl,PatternScan_EGF_1,PatternScan_EGF_LAM_1,superfamily_SSF57196,PatternScan_EGF_2,HMMSmart_LamB,HMMPfam_Laminin_B,HMMPfam_Laminin_I,superfamily_SSF56399,HMMPfam_Laminin_II,HMMSmart_LamG,HMMPfam_Laminin_G_1,HMMPfam_Laminin_G_2 - no_errors LAMA2 3908 genome.wustl.edu 36 6 129827205 129827205 + Missense_Mutation SNP G G T novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 6 129827205 129827205 G T SNP LAMA2 NM_000426 human genbank 54_36p +1 reviewed missense c.7070 p.W2357L 1.000 superfamily_ConA_like_lec_gl HMMPfam_Laminin_B,HMMSmart_LamG,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,PatternScan_EGF_LAM_1,HMMPfam_Laminin_N,HMMSmart_LamNT,superfamily_Gal_bind_like,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_I,HMMPfam_Laminin_II,HMMPfam_Laminin_G_1,HMMPfam_Laminin_G_2,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_LamB,superfamily_SSF56399,superfamily_SSF57196 - no_errors MBD4 8930 genome.wustl.edu 36 3 130638271 130638271 + Silent SNP C C G novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 3 130638271 130638271 C G SNP MBD4 NM_003925 human genbank 54_36p -1 reviewed silent c.906 p.V302 0.000 NULL superfamily_DNA-binding domain,HMMPfam_MBD,HMMSmart_SM00391,superfamily_DNA-glycosylase,HMMPfam_HhH-GPD - no_errors LOC401007 401007 genome.wustl.edu 36 2 131665652 131665652 + RNA SNP G G T novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 2 131665652 131665652 G T SNP LOC401007 XR_017052 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene ACAD8 27034 genome.wustl.edu 36 11 133636855 133636855 + Missense_Mutation SNP C C T novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 11 133636855 133636855 C T SNP ACAD8 NM_014384 human genbank 54_36p +1 validated missense c.953 p.T318I 0.983 HMMPfam_Acyl-CoA_dh_1,superfamily_AcylCoADH_C_like PatternScan_ACYL_COA_DH_2,superfamily_AcylCoA_dehyd_NM,HMMPfam_Acyl-CoA_dh_N,HMMPfam_Acyl-CoA_dh_M,PatternScan_ACYL_COA_DH_1,HMMPfam_Acyl-CoA_dh_1,superfamily_AcylCoADH_C_like - no_errors MAP3K5 4217 genome.wustl.edu 36 6 137061497 137061497 + Missense_Mutation SNP T T C novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 6 137061497 137061497 T C SNP MAP3K5 NM_005923 human genbank 54_36p -1 reviewed missense c.629 p.Y210C 1.000 NULL HMMSmart_S_TKc,HMMPfam_Pkinase,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,superfamily_SAM_homology - no_errors LOC728783 728783 genome.wustl.edu 36 1 142220434 142220434 + RNA SNP G G A novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 1 142220434 142220434 G A SNP LOC728783 XR_037226 human genbank 54_36p +1 model rna NULL NULL 0.997 - - - pseudogene EXOSC4 54512 genome.wustl.edu 36 8 145207267 145207267 + Silent SNP G G A novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 8 145207267 145207267 G A SNP EXOSC4 NM_019037 human genbank 54_36p +1 validated silent c.513 p.A171 0.556 superfamily_3_ExoRNase,HMMPfam_RNase_PH_C superfamily_Ribosomal_S5_D2-typ_fold,HMMPfam_RNase_PH,superfamily_3_ExoRNase,HMMPfam_RNase_PH_C - no_errors POGZ 23126 genome.wustl.edu 36 1 149669770 149669770 + Missense_Mutation SNP G G C novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 1 149669770 149669770 G C SNP POGZ NM_015100 human genbank 54_36p -1 reviewed missense c.455 p.T152R 1.000 NULL superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2,HMMPfam_CenpB-DNA-bind,superfamily_Homeodomain-like,HMMSmart_SM00674,HMMPfam_DDE - no_errors LINGO4 339398 genome.wustl.edu 36 1 150040333 150040333 + Missense_Mutation SNP C C G novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 1 150040333 150040333 C G SNP LINGO4 NM_001004432 human genbank 54_36p -1 provisional missense c.1472 p.G491A 1.000 superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2 superfamily_SSF52058,HMMPfam_LRRNT,HMMSmart_LRRNT,HMMSmart_LRR_TYP,HMMPfam_LRR_1,HMMSmart_LRRCT,superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2 - no_errors RHBG 57127 genome.wustl.edu 36 1 154613813 154613813 + Silent SNP C C T novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 1 154613813 154613813 C T SNP RHBG NM_020407 human genbank 54_36p +1 reviewed silent c.285 p.L95 1.000 HMMPfam_Ammonium_transp,superfamily_Ammonium ransporter (Pfam 00909) HMMPfam_Ammonium_transp,superfamily_Ammonium ransporter (Pfam 00909) - no_errors KIRREL 55243 genome.wustl.edu 36 1 156331373 156331373 + Nonsense_Mutation SNP C C T novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 1 156331373 156331373 C T SNP KIRREL NM_018240 human genbank 54_36p +1 validated nonsense c.1621 p.R541* 1.000 NULL superfamily_SSF48726,HMMPfam_V-set,HMMPfam_I-set,HMMSmart_IGc2,HMMPfam_ig,HMMSmart_IG - no_errors OR10K1 391109 genome.wustl.edu 36 1 156702604 156702604 + Missense_Mutation SNP C C T novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 1 156702604 156702604 C T SNP OR10K1 NM_001004473 human genbank 54_36p +1 provisional missense c.629 p.P210L 0.002 superfamily_SSF81321,HMMPfam_7tm_1 PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1 - no_errors OR10X1 128367 genome.wustl.edu 36 1 156815900 156815900 + Silent SNP G G T novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 1 156815900 156815900 G T SNP OR10X1 NM_001004477 human genbank 54_36p -1 provisional silent c.414 p.R138 0.736 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors SCN2A 6326 genome.wustl.edu 36 2 165951649 165951649 + Missense_Mutation SNP A A G novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 2 165951649 165951649 A G SNP SCN2A NM_001040142 human genbank 54_36p +1 reviewed missense c.4699 p.N1567D 1.000 superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,HMMSmart_SM00015,HMMPfam_IQ - no_errors SCN1A 6323 genome.wustl.edu 36 2 166606158 166606158 + Nonsense_Mutation SNP C C T novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 2 166606158 166606158 C T SNP SCN1A NM_006920 human genbank 54_36p -1 validated nonsense c.2211 p.W737* 1.000 NULL superfamily_SSF81324,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,HMMSmart_IQ,HMMPfam_IQ,PatternScan_RIBONUCLEASE_P - no_errors SCN9A 6335 genome.wustl.edu 36 2 166868790 166868790 + Missense_Mutation SNP G G C novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 2 166868790 166868790 G C SNP SCN9A ENST00000375387 human ensembl 54_36p -1 known missense c.688 p.P230A 1.000 superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,HMMSmart_SM00015,HMMPfam_IQ - no_errors TTN 7273 genome.wustl.edu 36 2 179337653 179337653 + Silent SNP C C A novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 2 179337653 179337653 C A SNP TTN NM_133379 human genbank 54_36p -1 reviewed silent c.9834 p.L3278 0.990 superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2 superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2,HMMSmart_IG,HMMPfam_Titin_Z,HMMPfam_ig,PatternScan_IG_MHC,PatternScan_THIOL_PROTEASE_HIS - no_errors EIF4G1 1981 genome.wustl.edu 36 3 185535286 185535286 + Missense_Mutation SNP A A G novel unknown TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3780ee50-4398-4e65-8d5e-4facca800051 eba71276-f166-4844-ad3e-cfae95a56378 3 185535286 185535286 A G SNP EIF4G1 NM_182917 human genbank 54_36p +1 reviewed missense c.4696 p.S1566G 1.000 superfamily_ARM repeat,HMMSmart_SM00515,HMMPfam_W2 superfamily_ARM repeat,HMMPfam_MIF4G,HMMSmart_SM00543,HMMPfam_MA3,HMMSmart_SM00544,HMMSmart_SM00515,HMMPfam_W2 - no_errors