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 ENSG00000211459 0 genome.wustl.edu 36 MT 764 764 + RNA SNP G A A novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb MT 764 764 G A SNP ENSG00000211459 ENST00000389680 human ensembl 54_36p +1 novel rna NULL NULL NULL - - - no_errors MT-ND4 4538 genome.wustl.edu 36 MT 10972 10972 + Nonsense_Mutation SNP G G A novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb MT 10972 10972 G A SNP MT-ND4 ENST00000361381 human ensembl 54_36p +1 known nonsense c.212 p.W71* NULL HMMPfam_Oxidored_q5_N HMMPfam_Oxidored_q5_N,HMMPfam_Oxidored_q1 - no_stop_codon:bad_bp_length_for_coding_region SGSM2 9905 genome.wustl.edu 36 17 2223506 2223506 + Silent SNP C T T novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 17 2223506 2223506 C T SNP SGSM2 NM_014853 human genbank 54_36p +1 validated silent c.2049 p.I683 0.967 superfamily_RabGAP_TBC,HMMSmart_TBC HMMPfam_RUN,HMMSmart_RUN,superfamily_RabGAP_TBC,HMMSmart_TBC,HMMPfam_TBC - no_errors P2RX1 5023 genome.wustl.edu 36 17 3754036 3754036 + Silent SNP G A A novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 17 3754036 3754036 G A SNP P2RX1 NM_002558 human genbank 54_36p -1 reviewed silent c.459 p.N153 0.036 HMMPfam_P2X_receptor HMMPfam_P2X_receptor,PatternScan_P2X_RECEPTOR - no_errors TP53 7157 genome.wustl.edu 36 17 7517819 7517819 + Missense_Mutation SNP G A A rs28934574 unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 17 7517819 7517819 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.844 p.R282W 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 PPP1R3B 79660 genome.wustl.edu 36 8 9035844 9035844 + Missense_Mutation SNP A A T novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 8 9035844 9035844 A T SNP PPP1R3B NM_024607 human genbank 54_36p -1 validated missense c.728 p.M243K 0.000 NULL HMMPfam_CBM_21 - no_errors ADAM17 6868 genome.wustl.edu 36 2 9578889 9578889 + Missense_Mutation SNP A A C novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 2 9578889 9578889 A C SNP ADAM17 NM_003183 human genbank 54_36p -1 reviewed missense c.851 p.I284S 1.000 "superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin" "superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,PatternScan_ZINC_PROTEASE,HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin)" - no_errors LOC646090 646090 genome.wustl.edu 36 15 18694046 18694046 + RNA SNP T T G novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 15 18694046 18694046 T G SNP LOC646090 XR_017120 human genbank 54_36p -1 model rna NULL NULL 0.988 - - - pseudogene uc003jgf.2 0 genome.wustl.edu 36 5 21495557 21495557 + Silent SNP C C T novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 5 21495557 21495557 C T SNP uc003jgf.2 ENST00000399751 human ensembl 54_36p +1 known silent c.39 p.D13 0.299 NULL NULL - no_errors HR 55806 genome.wustl.edu 36 8 22032456 22032456 + Missense_Mutation SNP G G C novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 8 22032456 22032456 G C SNP HR NM_005144 human genbank 54_36p -1 reviewed missense c.3165 p.H1055Q 0.997 HMMSmart_SM00558 HMMSmart_SM00558,HMMPfam_JmjC - no_errors ENSG00000215548 0 genome.wustl.edu 36 20 28226044 28226044 + Silent SNP C C A novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 20 28226044 28226044 C A SNP ENSG00000215548 ENST00000358464 human ensembl 54_36p +1 known silent c.153 p.L51 0.078 NULL NULL - no_stop_codon LOC647224 0 genome.wustl.edu 36 16 33648327 33648327 + RNA SNP C C T novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 16 33648327 33648327 C T SNP LOC647224 XR_037918 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene BRPF3 27154 genome.wustl.edu 36 6 36276847 36276847 + Missense_Mutation SNP G G A novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 6 36276847 36276847 G A SNP BRPF3 NM_015695 human genbank 54_36p +1 validated missense c.770 p.R257H 1.000 superfamily_FYVE_PHD_ZnF,HMMSmart_PHD,HMMPfam_PHD,PatternScan_ZF_PHD_1 HMMPfam_EPL1,superfamily_FYVE_PHD_ZnF,HMMSmart_PHD,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_Bromodomain,HMMSmart_BROMO,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1,superfamily_SSF63748,HMMPfam_PWWP,HMMSmart_PWWP - no_errors N4BP2 55728 genome.wustl.edu 36 4 39780683 39780683 + Missense_Mutation SNP G G A novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 4 39780683 39780683 G A SNP N4BP2 NM_018177 human genbank 54_36p +1 reviewed missense c.823 p.V275I 0.000 NULL superfamily_UBA-like,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_DUF1771,HMMSmart_SM00463,HMMPfam_Smr - no_errors C21orf29 54084 genome.wustl.edu 36 21 44812270 44812270 + Missense_Mutation SNP C C A novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 21 44812270 44812270 C A SNP C21orf29 NM_144991 human genbank 54_36p -1 provisional missense c.130 p.A44S 0.000 NULL HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_EPTP - no_errors FCGBP 8857 genome.wustl.edu 36 19 45113020 45113020 + Missense_Mutation SNP C C G novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 19 45113020 45113020 C G SNP FCGBP NM_003890 human genbank 54_36p -1 validated missense c.2741 p.S914T 0.928 HMMSmart_VWD,HMMPfam_VWD HMMSmart_FOLN,HMMSmart_VWD,HMMPfam_VWD,HMMPfam_C8,superfamily_Cysrich_TIL,HMMPfam_TIL,HMMPfam_TIL_assoc,HMMSmart_VWC - no_errors CELSR1 9620 genome.wustl.edu 36 22 45151652 45151652 + Missense_Mutation SNP G T T novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 22 45151652 45151652 G T SNP CELSR1 NM_014246 human genbank 54_36p -1 reviewed missense c.7554 p.F2518L 0.995 HMMPfam_7tm_2 superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_SM00179,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,PatternScan_ASX_HYDROXYL,HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,HMMSmart_SM00008,HMMPfam_HRM,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2 - no_errors LRP4 4038 genome.wustl.edu 36 11 46853945 46853945 + Missense_Mutation SNP C C T novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 11 46853945 46853945 C T SNP LRP4 NM_002334 human genbank 54_36p -1 validated missense c.3685 p.D1229N 1.000 superfamily_YWTD domain,HMMSmart_SM00135,HMMPfam_Ldl_recept_b superfamily_LDL receptor-like module,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,HMMSmart_SM00181,superfamily_EGF/Laminin,HMMPfam_EGF,PatternScan_EGF_2,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,PatternScan_ASX_HYDROXYL,superfamily_YWTD domain,HMMSmart_SM00135,HMMPfam_Ldl_recept_b - no_errors GALK2 2585 genome.wustl.edu 36 15 47399146 47399146 + Nonsense_Mutation SNP C T T novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 15 47399146 47399146 C T SNP GALK2 NM_002044 human genbank 54_36p +1 reviewed nonsense c.1021 p.R341* 0.760 superfamily_SSF55060 superfamily_Ribosomal_S5_D2-typ_fold,HMMPfam_GalKase_gal_bdg,PatternScan_GALACTOKINASE,HMMPfam_GHMP_kinases_N,PatternScan_GHMP_KINASES_ATP,superfamily_SSF55060,HMMPfam_GHMP_kinases_C - no_errors SCN8A 6334 genome.wustl.edu 36 12 50379638 50379638 + Missense_Mutation SNP G G A novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 12 50379638 50379638 G A SNP SCN8A NM_014191 human genbank 54_36p +1 validated missense c.724 p.G242S 1.000 superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,PatternScan_ODR_DC_2_1,HMMSmart_SM00015,HMMPfam_IQ - no_errors KRT76 51350 genome.wustl.edu 36 12 51456884 51456884 + Silent SNP C C T novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 12 51456884 51456884 C T SNP KRT76 NM_015848 human genbank 54_36p -1 validated silent c.459 p.G153 0.281 NULL HMMPfam_Filament,superfamily_Prefoldin,PatternScan_IF - no_errors GRLF1 2909 genome.wustl.edu 36 19 52114874 52114874 + Nonsense_Mutation SNP A A T novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 19 52114874 52114874 A T SNP GRLF1 NM_004491 human genbank 54_36p +1 reviewed nonsense c.1102 p.K368* 1.000 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Ras,HMMSmart_SM00441,HMMPfam_FF,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP - no_errors ARL15 54622 genome.wustl.edu 36 5 53642065 53642065 + Missense_Mutation SNP A A T novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 5 53642065 53642065 A T SNP ARL15 NM_019087 human genbank 54_36p -1 validated missense c.2 p.M1K 1.000 NULL HMMPfam_Arf,superfamily_SSF52540 - no_errors MAP3K1 4214 genome.wustl.edu 36 5 56212335 56212335 + Missense_Mutation SNP T T C novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 5 56212335 56212335 T C SNP MAP3K1 NM_005921 human genbank 54_36p +1 validated missense c.2128 p.C710R 1.000 NULL PatternScan_ZF_RING_1,HMMPfam_SWIM,superfamily_SSF57850,HMMSmart_RING,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors SMTNL1 219537 genome.wustl.edu 36 11 57074118 57074118 + Missense_Mutation SNP G G A novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 11 57074118 57074118 G A SNP SMTNL1 NM_001105565 human genbank 54_36p +1 provisional missense c.1496 p.R499H 1.000 HMMPfam_CH,superfamily_Calponin-homology domain CH-domain HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain - no_errors FTSJ3 117246 genome.wustl.edu 36 17 59251037 59251037 + Missense_Mutation SNP C C T novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 17 59251037 59251037 C T SNP FTSJ3 NM_017647 human genbank 54_36p -1 reviewed missense c.2401 p.V801I 1.000 HMMPfam_Spb1_C superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_FtsJ,HMMPfam_Spb1_C - no_errors CDH7 1005 genome.wustl.edu 36 18 61681033 61681033 + Silent SNP C C T novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 18 61681033 61681033 C T SNP CDH7 NM_004361 human genbank 54_36p +1 reviewed silent c.1764 p.D588 0.999 superfamily_Cadherin-like,HMMSmart_SM00112 superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C - no_errors PLCB3 5331 genome.wustl.edu 36 11 63788103 63788103 + Silent SNP C C T novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 11 63788103 63788103 C T SNP PLCB3 NM_000932 human genbank 54_36p +1 provisional silent c.2595 p.H865 0.997 NULL superfamily_EF-hand,HMMPfam_efhand_like,HMMSmart_SM00148,HMMPfam_PI-PLC-X,superfamily_PLC-like phosphodiesterases,HMMPfam_PI-PLC-Y,HMMSmart_SM00149,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,HMMPfam_PLC-beta_C - no_errors HYDIN 54768 genome.wustl.edu 36 16 69452189 69452189 + Missense_Mutation SNP C C T novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 16 69452189 69452189 C T SNP HYDIN NM_032821 human genbank 54_36p -1 validated missense c.11891 p.R3964H 0.965 NULL superfamily_PapD-like,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors PTGR2 145482 genome.wustl.edu 36 14 73413576 73413576 + Silent SNP A A T novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 14 73413576 73413576 A T SNP PTGR2 NM_152444 human genbank 54_36p +1 provisional silent c.471 p.T157 0.967 superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_ADH_zinc_N superfamily_GroES-like,superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_ADH_zinc_N - no_errors MTHFD2 10797 genome.wustl.edu 36 2 74286398 74286398 + Missense_Mutation SNP C C T novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 2 74286398 74286398 C T SNP MTHFD2 NM_006636 human genbank 54_36p +1 reviewed missense c.160 p.R54W 1.000 superfamily_SSF53223,HMMPfam_THF_DHG_CYH superfamily_SSF53223,HMMPfam_THF_DHG_CYH,PatternScan_THF_DHG_CYH_1,superfamily_NAD(P)-bd,HMMPfam_THF_DHG_CYH_C,PatternScan_THF_DHG_CYH_2 - no_errors LOC100129795 0 genome.wustl.edu 36 11 74467955 74467955 + RNA SNP G G C novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 11 74467955 74467955 G C SNP LOC100129795 XR_037716 human genbank 54_36p -1 model rna NULL NULL 0.992 - - - pseudogene PQLC1 80148 genome.wustl.edu 36 18 75780237 75780237 + Silent SNP G A A novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 18 75780237 75780237 G A SNP PQLC1 NM_025078 human genbank 54_36p -1 provisional silent c.543 p.T181 0.998 HMMPfam_PQ-loop HMMPfam_PQ-loop,HMMSmart_SM00679 - no_errors PRSS35 167681 genome.wustl.edu 36 6 84290531 84290531 + Missense_Mutation SNP G G T novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 6 84290531 84290531 G T SNP PRSS35 NM_153362 human genbank 54_36p +1 provisional missense c.652 p.G218C 0.006 superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc PatternScan_TRYPSIN_SER,superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS - no_errors NAALAD2 10003 genome.wustl.edu 36 11 89554504 89554504 + Missense_Mutation SNP G G A novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 11 89554504 89554504 G A SNP NAALAD2 NM_005467 human genbank 54_36p +1 reviewed missense c.1927 p.V643I 0.936 superfamily_Transferrin receptor ectodomain C-terminal domain,HMMPfam_TFR_dimer superfamily_Transferrin receptor ectodomain apical domain,HMMPfam_PA,superfamily_Zn-dependent exopeptidases,HMMPfam_Peptidase_M28,superfamily_Transferrin receptor ectodomain C-terminal domain,HMMPfam_TFR_dimer - no_errors DPYD 1806 genome.wustl.edu 36 1 97937689 97937689 + Silent SNP T T C novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 1 97937689 97937689 T C SNP DPYD NM_000110 human genbank 54_36p -1 reviewed silent c.486 p.V162 0.799 superfamily_Helical_ferredxn superfamily_Helical_ferredxn,superfamily_SSF51971,HMMPfam_Pyr_redox_2,superfamily_SSF51395,HMMPfam_DHO_dh,superfamily_SSF54862,HMMPfam_Fer4,PatternScan_4FE4S_FER_1 - no_errors STAG3 10734 genome.wustl.edu 36 7 99640659 99640659 + Missense_Mutation SNP C C T novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 7 99640659 99640659 C T SNP STAG3 NM_012447 human genbank 54_36p +1 validated missense c.3047 p.S1016F 0.998 superfamily_ARM repeat superfamily_ARM repeat,HMMPfam_STAG - no_errors MUC17 140453 genome.wustl.edu 36 7 100466000 100466000 + Missense_Mutation SNP G G C novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 7 100466000 100466000 G C SNP MUC17 NM_001040105 human genbank 54_36p +1 provisional missense c.4583 p.S1528T 0.001 NULL superfamily_EGF/Laminin,PatternScan_EGF_1,superfamily_SEA domain,HMMSmart_SM00200,HMMPfam_SEA - no_errors UBR5 51366 genome.wustl.edu 36 8 103340431 103340431 + Missense_Mutation SNP C C T novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 8 103340431 103340431 C T SNP UBR5 NM_015902 human genbank 54_36p -1 reviewed missense c.8059 p.V2687M 1.000 superfamily_HECT,HMMSmart_HECTc,HMMPfam_HECT HMMPfam_zf-UBR,HMMSmart_ZnF_UBR1,superfamily_HECT,superfamily_PABP_HYD,HMMPfam_PABP,HMMSmart_PolyA,HMMSmart_HECTc,HMMPfam_HECT - no_errors NCK2 8440 genome.wustl.edu 36 2 105838035 105838035 + Silent SNP G G T novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 2 105838035 105838035 G T SNP NCK2 NM_001004720 human genbank 54_36p +1 reviewed silent c.84 p.R28 0.710 superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3 superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2 - no_errors SORCS1 114815 genome.wustl.edu 36 10 108429437 108429437 + Missense_Mutation SNP A A T novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 10 108429437 108429437 A T SNP SORCS1 NM_001013031 human genbank 54_36p -1 reviewed missense c.1606 p.Y536N 1.000 superfamily_SSF110296,HMMSmart_VPS10 superfamily_SSF110296,HMMSmart_VPS10,HMMSmart_PKD,superfamily_PKD,HMMPfam_PKD - no_errors ZNF462 58499 genome.wustl.edu 36 9 108811666 108811666 + Missense_Mutation SNP C C A novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 9 108811666 108811666 C A SNP ZNF462 NM_021224 human genbank 54_36p +1 validated missense c.7209 p.D2403E 0.340 superfamily_beta-sandwich domain of Sec23/24,superfamily_C2H2 and C2HC zinc fingers superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_beta-sandwich domain of Sec23/24 - no_errors C4orf21 55345 genome.wustl.edu 36 4 113758970 113758970 + Nonsense_Mutation SNP C C T novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 4 113758970 113758970 C T SNP C4orf21 NM_018392 human genbank 54_36p -1 predicted nonsense c.1677 p.W559* 0.000 NULL HMMPfam_DUF2439 - no_errors ANK2 287 genome.wustl.edu 36 4 114472635 114472635 + Missense_Mutation SNP C C T novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 4 114472635 114472635 C T SNP ANK2 NM_001148 human genbank 54_36p +1 reviewed missense c.3184 p.R1062C 1.000 HMMPfam_ZU5 superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank,HMMPfam_ZU5,PatternScan_ALDEHYDE_DEHYDR_GLU,superfamily_DEATH_like,HMMSmart_DEATH,HMMPfam_Death - no_errors CEP164 22897 genome.wustl.edu 36 11 116758773 116758773 + Missense_Mutation SNP T T A novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 11 116758773 116758773 T A SNP CEP164 NM_014956 human genbank 54_36p +1 validated missense c.1629 p.H543Q 0.000 NULL superfamily_WW domain,HMMSmart_SM00456,HMMPfam_WW - no_errors KPNA5 3841 genome.wustl.edu 36 6 117117234 117117234 + Silent SNP C C T novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 6 117117234 117117234 C T SNP KPNA5 NM_002269 human genbank 54_36p +1 reviewed silent c.63 p.A21 0.847 HMMPfam_IBB HMMPfam_IBB,superfamily_ARM repeat,HMMPfam_Arm,HMMSmart_SM00185 - no_errors OASL 8638 genome.wustl.edu 36 12 119953751 119953751 + Silent SNP G G A novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 12 119953751 119953751 G A SNP OASL NM_003733 human genbank 54_36p -1 validated silent c.534 p.I178 0.154 superfamily_Nucleotidyltransferase,HMMPfam_OAS1_C superfamily_Nucleotidyltransferase,PatternScan_25A_SYNTH_1,HMMPfam_OAS1_C,superfamily_PAP/OAS1 substrate-binding domain,PatternScan_25A_SYNTH_2,HMMSmart_SM00213,superfamily_Ubiquitin-like,HMMPfam_ubiquitin - no_errors CLASP1 23332 genome.wustl.edu 36 2 121932978 121932978 + Missense_Mutation SNP C C T novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 2 121932978 121932978 C T SNP CLASP1 NM_015282 human genbank 54_36p -1 validated missense c.1222 p.E408K 1.000 superfamily_ARM repeat superfamily_ARM repeat,HMMPfam_HEAT - no_errors HSPA5 3309 genome.wustl.edu 36 9 127038815 127038815 + Missense_Mutation SNP T T A novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 9 127038815 127038815 T A SNP HSPA5 NM_005347 human genbank 54_36p -1 validated missense c.1842 p.E614D 1.000 HMMPfam_HSP70,superfamily_Heat shock protein 70kD (HSP70) C-terminal subdomain superfamily_Actin-like ATPase domain,HMMPfam_HSP70,PatternScan_HSP70_1,PatternScan_HSP70_2,PatternScan_HSP70_3,superfamily_Heat shock protein 70kD (HSP70) peptide-binding domain,superfamily_Heat shock protein 70kD (HSP70) C-terminal subdomain - no_errors AK1 203 genome.wustl.edu 36 9 129670149 129670149 + Missense_Mutation SNP C C G novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 9 129670149 129670149 C G SNP AK1 NM_000476 human genbank 54_36p -1 reviewed missense c.544 p.V182L 0.998 superfamily_P-loop containing nucleoside triphosphate hydrolases superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_ADK,PatternScan_ADENYLATE_KINASE - no_errors SLC23A1 9963 genome.wustl.edu 36 5 138743846 138743846 + Silent SNP G G A novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 5 138743846 138743846 G A SNP SLC23A1 NM_152685 human genbank 54_36p -1 reviewed silent c.609 p.V203 0.994 HMMPfam_Xan_ur_permease HMMPfam_Xan_ur_permease - no_errors PCDHA2 56146 genome.wustl.edu 36 5 140155043 140155043 + Missense_Mutation SNP A A T novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 5 140155043 140155043 A T SNP PCDHA2 NM_018905 human genbank 54_36p +1 reviewed missense c.310 p.I104F 0.259 superfamily_Cadherin-like,HMMSmart_SM00112,HMMPfam_Cadherin_2 superfamily_Cadherin-like,HMMSmart_SM00112,HMMPfam_Cadherin_2,PatternScan_CADHERIN_1,HMMPfam_Cadherin - no_errors PCDHB10 56126 genome.wustl.edu 36 5 140553852 140553852 + Missense_Mutation SNP G G A novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 5 140553852 140553852 G A SNP PCDHB10 NM_018930 human genbank 54_36p +1 reviewed missense c.1543 p.A515T 0.256 superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA HMMPfam_Cadherin_2,superfamily_Cadherin,PatternScan_CADHERIN_1,HMMPfam_Cadherin,HMMSmart_CA - no_errors FLJ43860 389690 genome.wustl.edu 36 8 142575626 142575626 + Missense_Mutation SNP A A G novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 8 142575626 142575626 A G SNP FLJ43860 NM_207414 human genbank 54_36p -1 validated missense c.238 p.F80L 0.830 NULL superfamily_ARM repeat,HMMPfam_HEAT - pseudogene KYNU 8942 genome.wustl.edu 36 2 143459141 143459141 + Missense_Mutation SNP G G C novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 2 143459141 143459141 G C SNP KYNU NM_003937 human genbank 54_36p +1 reviewed missense c.748 p.D250H 1.000 superfamily_PLP-dependent transferases,HMMPfam_Aminotran_5 superfamily_PLP-dependent transferases,HMMPfam_Aminotran_5 - no_errors REPIN1 29803 genome.wustl.edu 36 7 149699757 149699757 + Missense_Mutation SNP G G A novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 7 149699757 149699757 G A SNP REPIN1 NM_001099695 human genbank 54_36p +1 validated missense c.665 p.R222Q 0.013 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors PLXNA3 55558 genome.wustl.edu 36 X 153345762 153345762 + Silent SNP G A A novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb X 153345762 153345762 G A SNP PLXNA3 NM_017514 human genbank 54_36p +1 validated silent c.1740 p.A580 0.000 NULL superfamily_Sema,HMMPfam_Sema,HMMSmart_Sema,HMMPfam_PSI,HMMSmart_PSI,superfamily_Plexin-like_fold,HMMSmart_IPT,superfamily_Ig_E-set,HMMPfam_TIG,HMMPfam_Plexin_cytopl,superfamily_Rho_GAP - no_errors LOC149501 149501 genome.wustl.edu 36 1 155309648 155309648 + RNA SNP G G A novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 1 155309648 155309648 G A SNP LOC149501 XR_017100 human genbank 54_36p +1 model rna NULL NULL 0.004 - - - pseudogene TULP4 56995 genome.wustl.edu 36 6 158843852 158843852 + Missense_Mutation SNP G G A novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 6 158843852 158843852 G A SNP TULP4 NM_020245 human genbank 54_36p +1 validated missense c.3169 p.A1057T 0.811 NULL HMMSmart_SM00320,HMMPfam_WD40,superfamily_WD40 repeat-like,superfamily_TNF-like,HMMPfam_SOCS_box,superfamily_Transcriptional factor tubby C-terminal domain,HMMPfam_Tub - no_errors GABRG2 2566 genome.wustl.edu 36 5 161509153 161509153 + Missense_Mutation SNP A A C novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 5 161509153 161509153 A C SNP GABRG2 ENST00000393933 human ensembl 54_36p +1 known missense c.1136 p.K379T 0.000 superfamily_Neu_channel_TM,HMMPfam_Neur_chan_memb superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neu_channel_TM,HMMPfam_Neur_chan_memb - no_stop_codon TTN 7273 genome.wustl.edu 36 2 179146830 179146830 + Nonsense_Mutation SNP G G T novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 2 179146830 179146830 G T SNP TTN ENST00000375038 human ensembl 54_36p -1 known nonsense c.60218 p.S20073* 0.998 superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408 superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,HMMPfam_Titin_Z,HMMSmart_SM00406,PatternScan_IG_MHC,HMMPfam_PPAK,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,PatternScan_FGGY_KINASES_1,PatternScan_PEROXIDASE_1,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_TYR - no_errors PIK3CA 5290 genome.wustl.edu 36 3 180399651 180399651 + Missense_Mutation SNP G G T novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 3 180399651 180399651 G T SNP PIK3CA NM_006218 human genbank 54_36p +1 reviewed missense c.344 p.R115L 1.000 superfamily_SSF54236 HMMPfam_PI3K_p85B,HMMSmart_PI3K_p85B,superfamily_SSF54236,HMMPfam_PI3K_rbd,HMMSmart_PI3K_rbd,HMMSmart_PI3K_C2,superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_PI3K_C2,superfamily_ARM-type_fold,HMMSmart_PI3Ka,HMMPfam_PI3Ka,superfamily_Kinase_like,HMMPfam_PI3_PI4_kinase,HMMSmart_PI3Kc,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2 - no_errors FAM171B 165215 genome.wustl.edu 36 2 187313291 187313291 + Silent SNP G G A novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 2 187313291 187313291 G A SNP FAM171B NM_177454 human genbank 54_36p +1 validated silent c.330 p.T110 0.988 HMMPfam_UPF0560 HMMPfam_UPF0560 - no_errors ENSG00000180015 0 genome.wustl.edu 36 4 189897207 189897207 + Silent SNP G G A novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 4 189897207 189897207 G A SNP ENSG00000180015 ENST00000321235 human ensembl 54_36p +1 known silent c.609 p.P203 0.996 superfamily_SSF75620,HMMPfam_RF-1 superfamily_SSF75620,HMMPfam_PCRF,HMMPfam_RF-1 - no_start_codon CFHR1 3078 genome.wustl.edu 36 1 195066359 195066359 + Silent SNP G G A novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 1 195066359 195066359 G A SNP CFHR1 NM_002113 human genbank 54_36p +1 validated silent c.714 p.Q238 0.680 superfamily_Complement_control_module,HMMPfam_Sushi,HMMSmart_CCP superfamily_Complement_control_module,HMMPfam_Sushi,HMMSmart_CCP - no_errors ADIPOR1 51094 genome.wustl.edu 36 1 201177941 201177941 + Silent SNP G G A novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 1 201177941 201177941 G A SNP ADIPOR1 NM_015999 human genbank 54_36p -1 validated silent c.834 p.G278 0.959 HMMPfam_HlyIII HMMPfam_HlyIII - no_errors OBSL1 23363 genome.wustl.edu 36 2 220139853 220139853 + Missense_Mutation SNP C C T novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 2 220139853 220139853 C T SNP OBSL1 NM_015311 human genbank 54_36p -1 provisional missense c.2077 p.A693T 0.923 superfamily_SSF48726 superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2,HMMSmart_IG,HMMPfam_ig,HMMPfam_fn3,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_V-set - no_errors LOC100133328 0 genome.wustl.edu 36 1 224381518 224381518 + RNA SNP C C T novel unknown TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22fc11f7-fd86-4de0-8e21-ff4aea4e6f83 4a03326c-ccd1-4545-b569-8c4c45e38feb 1 224381518 224381518 C T SNP LOC100133328 XR_038620 human genbank 54_36p +1 model rna NULL NULL 0.014 - - - pseudogene