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 DIP2C 22982 genome.wustl.edu 36 10 365384 365384 + Missense_Mutation SNP C C T novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 10 365384 365384 C T SNP DIP2C NM_014974 human genbank 54_36p -1 reviewed missense c.3742 p.E1248K 0.998 superfamily_SSF56801,HMMPfam_AMP-binding PatternScan_AMP_BINDING,HMMPfam_DMAP_binding,superfamily_SSF56801,HMMPfam_AMP-binding - no_errors MAPK8IP3 23162 genome.wustl.edu 36 16 1757726 1757726 + Missense_Mutation SNP G G A novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 16 1757726 1757726 G A SNP MAPK8IP3 NM_015133 human genbank 54_36p +1 reviewed missense c.3395 p.S1132N 1.000 NULL HMMPfam_Jnk-SapK_ap_N,superfamily_WD40 repeat-like - no_errors MYOM2 9172 genome.wustl.edu 36 8 1987693 1987693 + Missense_Mutation SNP A A G novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 8 1987693 1987693 A G SNP MYOM2 NM_003970 human genbank 54_36p +1 validated missense c.118 p.T40A 0.000 NULL superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IG,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3,HMMPfam_ig,HMMSmart_IGc2 - no_errors AVP 551 genome.wustl.edu 36 20 3013243 3013243 + Silent SNP C C T novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 20 3013243 3013243 C T SNP AVP NM_000490 human genbank 54_36p -1 reviewed silent c.78 p.P26 0.942 HMMPfam_Hormone_4,PatternScan_NEUROHYPOPHYS_HORM HMMPfam_Hormone_4,PatternScan_NEUROHYPOPHYS_HORM,superfamily_Neurhyp_horm,HMMPfam_Hormone_5,HMMSmart_NH - no_errors ARSF 416 genome.wustl.edu 36 X 3017646 3017646 + Missense_Mutation SNP A A C novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 X 3017646 3017646 A C SNP ARSF NM_004042 human genbank 54_36p +1 reviewed missense c.940 p.N314H 0.978 superfamily_Alkaline phosphatase-like,HMMPfam_Sulfatase superfamily_Alkaline phosphatase-like,HMMPfam_Sulfatase,PatternScan_SULFATASE_1,PatternScan_SULFATASE_2 - no_errors WDR8 49856 genome.wustl.edu 36 1 3539924 3539924 + Missense_Mutation SNP C A A novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 1 3539924 3539924 C A SNP WDR8 NM_017818 human genbank 54_36p -1 reviewed missense c.820 p.V274L 1.000 superfamily_C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase superfamily_C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase,HMMSmart_SM00320,HMMPfam_WD40 - no_errors IRX1 79192 genome.wustl.edu 36 5 3652675 3652675 + Missense_Mutation SNP C C A novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 5 3652675 3652675 C A SNP IRX1 NM_024337 human genbank 54_36p +1 validated missense c.613 p.L205I 0.662 NULL superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1,HMMSmart_IRO - no_errors NOL9 79707 genome.wustl.edu 36 1 6511687 6511687 + Silent SNP C C A novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 1 6511687 6511687 C A SNP NOL9 NM_024654 human genbank 54_36p -1 validated silent c.1779 p.G593 0.825 HMMPfam_NUC156 HMMPfam_NUC156 - no_errors ACRBP 84519 genome.wustl.edu 36 12 6623631 6623631 + Nonsense_Mutation SNP G G A novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 12 6623631 6623631 G A SNP ACRBP NM_032489 human genbank 54_36p -1 reviewed nonsense c.877 p.Q293* 0.881 NULL HMMPfam_PBP_sp32,superfamily_SSF100895,HMMSmart_KAZAL - no_errors LAMA1 284217 genome.wustl.edu 36 18 7030226 7030226 + Missense_Mutation SNP G G A novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 18 7030226 7030226 G A SNP LAMA1 NM_005559 human genbank 54_36p -1 validated missense c.1271 p.P424L 0.998 superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00181,HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin HMMSmart_SM00136,HMMPfam_Laminin_N,superfamily_Galactose-binding domain-like,HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_Concanavalin A-like lectins/glucanases,PatternScan_EGF_1,PatternScan_EGF_LAM_1,HMMSmart_SM00181,superfamily_EGF/Laminin,PatternScan_EGF_2,HMMSmart_SM00281,HMMPfam_Laminin_B,HMMPfam_Laminin_I,HMMPfam_Laminin_II,HMMSmart_SM00282,HMMPfam_Laminin_G_1,HMMPfam_Laminin_G_2 - no_errors FXR2 9513 genome.wustl.edu 36 17 7435854 7435854 + Missense_Mutation SNP G G C novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 17 7435854 7435854 G C SNP FXR2 ENST00000250113 human ensembl 54_36p -1 known missense c.2041 p.P681A 1.000 NULL HMMPfam_Agenet,superfamily_Eukaryotic type KH-domain (KH-domain type I),HMMSmart_SM00322,HMMPfam_KH_1 - no_errors TP53 7157 genome.wustl.edu 36 17 7517845 7517845 + Missense_Mutation SNP C C T novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 17 7517845 7517845 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.818 p.R273H 0.807 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 USP7 7874 genome.wustl.edu 36 16 8896187 8896187 + Missense_Mutation SNP C C A novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 16 8896187 8896187 C A SNP USP7 NM_003470 human genbank 54_36p -1 validated missense c.3066 p.K1022N 1.000 NULL superfamily_Traf_like,HMMSmart_MATH,HMMPfam_MATH,superfamily_SSF54001,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2 - no_errors DNAH9 1770 genome.wustl.edu 36 17 11738508 11738508 + Missense_Mutation SNP C C A novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 17 11738508 11738508 C A SNP DNAH9 NM_001372 human genbank 54_36p +1 reviewed missense c.11376 p.F3792L 1.000 HMMPfam_Dynein_heavy HMMPfam_DHC_N1,superfamily_Spectrin repeat,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,HMMPfam_Dynein_heavy,PatternScan_CPSASE_2 - no_errors SPEN 23013 genome.wustl.edu 36 1 16133761 16133761 + Silent SNP G G C novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 1 16133761 16133761 G C SNP SPEN NM_015001 human genbank 54_36p +1 reviewed silent c.8439 p.G2813 0.981 NULL superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1,superfamily_SPOC-like,HMMPfam_SPOC - no_errors KLHDC7A 127707 genome.wustl.edu 36 1 18681734 18681734 + Missense_Mutation SNP C C T novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 1 18681734 18681734 C T SNP KLHDC7A NM_152375 human genbank 54_36p +1 validated missense c.1672 p.R558C 1.000 superfamily_Gal_oxid_central,HMMPfam_Kelch_1,HMMSmart_Kelch superfamily_Gal_oxid_central,HMMPfam_Kelch_1,HMMSmart_Kelch - no_errors LOC100133072 0 genome.wustl.edu 36 19 19151321 19151321 + Missense_Mutation SNP C T T novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 19 19151321 19151321 C T SNP LOC100133072 XM_001726862 human genbank 54_36p -1 model missense c.488 p.S163N 0.003 NULL NULL - no_errors LZTR1 8216 genome.wustl.edu 36 22 19673123 19673123 + Silent SNP C C T novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 22 19673123 19673123 C T SNP LZTR1 NM_006767 human genbank 54_36p +1 reviewed silent c.555 p.D185 1.000 superfamily_Galactose oxidase central domain,HMMSmart_SM00612,HMMPfam_Kelch_1 superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1,HMMSmart_SM00612,HMMPfam_Kelch_2,superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_BTB - no_errors TEP1 7011 genome.wustl.edu 36 14 19917071 19917071 + Missense_Mutation SNP T T C novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 14 19917071 19917071 T C SNP TEP1 NM_007110 human genbank 54_36p -1 reviewed missense c.5161 p.I1721V 0.757 superfamily_WD40 repeat-like,HMMSmart_SM00320 HMMPfam_TEP1_N,HMMPfam_TROVE,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_NACHT,HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40 - no_errors EPHA8 2046 genome.wustl.edu 36 1 22788003 22788003 + Silent SNP G G A novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 1 22788003 22788003 G A SNP EPHA8 NM_020526 human genbank 54_36p +1 reviewed silent c.1032 p.V344 0.989 superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3 superfamily_Gal_bind_like,HMMPfam_Ephrin_lbd,HMMSmart_EPH_lbd,PatternScan_RECEPTOR_TYR_KIN_V_1,PatternScan_RECEPTOR_TYR_KIN_V_2,PatternScan_EGF_2,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR,superfamily_SAM_homology,HMMSmart_SAM,HMMPfam_SAM_1 - no_errors IPO4 79711 genome.wustl.edu 36 14 23722091 23722091 + Silent SNP G G A novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 14 23722091 23722091 G A SNP IPO4 NM_024658 human genbank 54_36p -1 validated silent c.2352 p.T784 0.000 superfamily_ARM repeat superfamily_ARM repeat,HMMPfam_IBN_N,HMMPfam_HEAT,PatternScan_PA2_HIS - no_errors OTOF 9381 genome.wustl.edu 36 2 26578730 26578730 + Missense_Mutation SNP G G A novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 2 26578730 26578730 G A SNP OTOF NM_194248 human genbank 54_36p -1 reviewed missense c.652 p.P218S 1.000 NULL HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2,HMMPfam_FerI,HMMPfam_FerB - no_errors PDS5B 23047 genome.wustl.edu 36 13 32179093 32179093 + Missense_Mutation SNP A A G novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 13 32179093 32179093 A G SNP PDS5B NM_015032 human genbank 54_36p +1 validated missense c.1879 p.K627E 1.000 superfamily_ARM repeat superfamily_ARM repeat,HMMPfam_HEAT,HMMPfam_AT_hook - no_errors CDC42EP1 11135 genome.wustl.edu 36 22 36294300 36294300 + Missense_Mutation SNP A A G novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 22 36294300 36294300 A G SNP CDC42EP1 NM_152243 human genbank 54_36p +1 reviewed missense c.703 p.T235A 0.217 NULL HMMPfam_PBD,HMMSmart_SM00285 - no_errors TRIOBP 11078 genome.wustl.edu 36 22 36427395 36427395 + Missense_Mutation SNP G G C novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 22 36427395 36427395 G C SNP TRIOBP NM_001039141 human genbank 54_36p +1 reviewed missense c.77 p.C26S 0.038 NULL HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like - no_errors EPDR1 54749 genome.wustl.edu 36 7 37926996 37926996 + Missense_Mutation SNP A A C novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 7 37926996 37926996 A C SNP EPDR1 NM_017549 human genbank 54_36p +1 reviewed missense c.290 p.H97P 0.000 NULL HMMPfam_Ependymin,PatternScan_EPENDYMIN_1,PatternScan_EPENDYMIN_2 - no_errors ZNF33A 7581 genome.wustl.edu 36 10 38384209 38384209 + Missense_Mutation SNP C C T novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 10 38384209 38384209 C T SNP ZNF33A NM_006954 human genbank 54_36p +1 validated missense c.1151 p.P384L 0.987 superfamily_C2H2 and C2HC zinc fingers superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors ENTHD1 150350 genome.wustl.edu 36 22 38613424 38613424 + Missense_Mutation SNP T T C novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 22 38613424 38613424 T C SNP ENTHD1 NM_152512 human genbank 54_36p -1 provisional missense c.275 p.H92R 1.000 superfamily_ENTH/VHS domain,HMMPfam_ENTH,HMMSmart_SM00273 superfamily_ENTH/VHS domain,HMMPfam_ENTH,HMMSmart_SM00273 - no_errors LRRK2 120892 genome.wustl.edu 36 12 39015134 39015134 + Silent SNP G G A novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 12 39015134 39015134 G A SNP LRRK2 NM_198578 human genbank 54_36p +1 reviewed silent c.5856 p.K1952 0.128 superfamily_Kinase_like,HMMPfam_Pkinase superfamily_ARM-type_fold,superfamily_SSF52058,HMMPfam_LRR_1,superfamily_SSF52540,HMMPfam_Miro,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST,superfamily_WD40_like,HMMSmart_WD40,PatternScan_RCC1_2 - no_errors BCOR 54880 genome.wustl.edu 36 X 39818504 39818504 + Missense_Mutation SNP T T C novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 X 39818504 39818504 T C SNP BCOR NM_017745 human genbank 54_36p -1 reviewed missense c.1039 p.T347A 0.114 NULL superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank - no_errors FOXO1 2308 genome.wustl.edu 36 13 40032759 40032759 + Nonsense_Mutation SNP G G T novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 13 40032759 40032759 G T SNP FOXO1 NM_002015 human genbank 54_36p -1 reviewed nonsense c.869 p.S290* 0.952 NULL PatternScan_FORK_HEAD_1,HMMPfam_Fork_head,superfamily_SSF46785,HMMSmart_FH,PatternScan_FORK_HEAD_2 - no_errors TGM7 116179 genome.wustl.edu 36 15 41358689 41358689 + Missense_Mutation SNP C C G novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 15 41358689 41358689 C G SNP TGM7 NM_052955 human genbank 54_36p -1 validated missense c.1757 p.G586A 0.990 superfamily_Transglut_C,HMMPfam_Transglut_C superfamily_Ig_E-set,HMMPfam_Transglut_N,superfamily_SSF54001,HMMSmart_TGc,HMMPfam_Transglut_core,PatternScan_TRANSGLUTAMINASES,superfamily_Transglut_C,HMMPfam_Transglut_C - no_errors EPSTI1 94240 genome.wustl.edu 36 13 42464224 42464224 + Silent SNP G G A novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 13 42464224 42464224 G A SNP EPSTI1 NM_001002264 human genbank 54_36p -1 validated silent c.78 p.D26 0.000 NULL NULL - no_errors RIMKLA 284716 genome.wustl.edu 36 1 42653131 42653131 + Missense_Mutation SNP C C T novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 1 42653131 42653131 C T SNP RIMKLA NM_173642 human genbank 54_36p +1 validated missense c.952 p.R318W 1.000 NULL superfamily_Glutathione synthetase ATP-binding domain-like,HMMPfam_RimK - no_errors RBPJL 11317 genome.wustl.edu 36 20 43375561 43375561 + Missense_Mutation SNP G G T novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 20 43375561 43375561 G T SNP RBPJL NM_014276 human genbank 54_36p +1 reviewed missense c.659 p.R220L 1.000 superfamily_Beta-trefoil,HMMPfam_Beta-trefoil superfamily_P53_like_DNA_bnd,HMMPfam_LAG1-DNAbind,superfamily_Beta-trefoil,HMMPfam_Beta-trefoil,superfamily_Ig_E-set,HMMPfam_TIG - no_errors FCGBP 8857 genome.wustl.edu 36 19 45125515 45125515 + Silent SNP G G A novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 19 45125515 45125515 G A SNP FCGBP NM_003890 human genbank 54_36p -1 validated silent c.594 p.Y198 0.320 NULL HMMSmart_FOLN,HMMSmart_VWD,HMMPfam_VWD,HMMPfam_C8,superfamily_Cysrich_TIL,HMMPfam_TIL,HMMPfam_TIL_assoc,HMMSmart_VWC - no_errors KIAA1602 57701 genome.wustl.edu 36 12 48475112 48475112 + Missense_Mutation SNP C C G novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 12 48475112 48475112 C G SNP KIAA1602 ENST00000335999 human ensembl 54_36p -1 known missense c.1571 p.R524P 1.000 NULL NULL - no_errors uc001rvf.1 0 genome.wustl.edu 36 12 48484010 48484010 + Missense_Mutation SNP T T G novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 12 48484010 48484010 T G SNP uc001rvf.1 ENST00000408986 human ensembl 54_36p -1 known missense c.73 p.T25P 0.999 NULL NULL - no_errors SYMPK 8189 genome.wustl.edu 36 19 51042947 51042947 + Silent SNP G G A novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 19 51042947 51042947 G A SNP SYMPK NM_004819 human genbank 54_36p -1 reviewed silent c.579 p.T193 1.000 superfamily_ARM repeat superfamily_ARM repeat,HMMPfam_HEAT - no_errors UNC13C 440279 genome.wustl.edu 36 15 52093515 52093515 + Nonsense_Mutation SNP C C T novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 15 52093515 52093515 C T SNP UNC13C NM_001080534 human genbank 54_36p +1 provisional nonsense c.1123 p.R375* 0.996 NULL superfamily_SSF57889,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2,HMMPfam_DUF1041,HMMPfam_Membr_traf_MHD - no_errors PRPF38A 84950 genome.wustl.edu 36 1 52643969 52643969 + Missense_Mutation SNP T T G novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 1 52643969 52643969 T G SNP PRPF38A NM_032864 human genbank 54_36p +1 validated missense c.160 p.L54V 1.000 HMMPfam_PRP38 HMMPfam_PRP38 - no_errors FAM83E 54854 genome.wustl.edu 36 19 53808273 53808273 + Missense_Mutation SNP G G A novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 19 53808273 53808273 G A SNP FAM83E NM_017708 human genbank 54_36p -1 validated missense c.169 p.P57S 0.996 HMMPfam_DUF1669 HMMPfam_DUF1669,superfamily_Phospholipase D/nuclease - no_errors CACNA1D 776 genome.wustl.edu 36 3 53820204 53820204 + Missense_Mutation SNP C C T novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 3 53820204 53820204 C T SNP CACNA1D NM_000720 human genbank 54_36p +1 validated missense c.6277 p.R2093C 1.000 NULL superfamily_SSF81324,HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ - no_errors IZUMO1 284359 genome.wustl.edu 36 19 53936917 53936917 + Missense_Mutation SNP C C T novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 19 53936917 53936917 C T SNP IZUMO1 NM_182575 human genbank 54_36p -1 validated missense c.695 p.R232H 0.997 superfamily_Immunoglobulin superfamily_Immunoglobulin - no_errors CDC20B 166979 genome.wustl.edu 36 5 54478308 54478308 + Missense_Mutation SNP G G A novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 5 54478308 54478308 G A SNP CDC20B NM_152623 human genbank 54_36p -1 provisional missense c.260 p.S87F 0.000 superfamily_WD40_like superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,PatternScan_WD_REPEATS_1 - no_errors PAN2 9924 genome.wustl.edu 36 12 55003124 55003124 + Missense_Mutation SNP C C G novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 12 55003124 55003124 C G SNP PAN2 NM_014871 human genbank 54_36p -1 validated missense c.2482 p.D828H 0.799 superfamily_Cysteine proteinases,HMMPfam_UCH superfamily_WD40 repeat-like,superfamily_Cysteine proteinases,HMMPfam_UCH,superfamily_Ribonuclease H-like,HMMSmart_SM00479,HMMPfam_Exonuc_X-T - no_errors HAS1 3036 genome.wustl.edu 36 19 56908538 56908538 + Missense_Mutation SNP C C T novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 19 56908538 56908538 C T SNP HAS1 NM_001523 human genbank 54_36p -1 reviewed missense c.1691 p.R564Q 0.938 NULL superfamily_SSF53448,HMMPfam_Glycos_transf_2 - no_errors DACT1 51339 genome.wustl.edu 36 14 58183117 58183117 + Missense_Mutation SNP G G A novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 14 58183117 58183117 G A SNP DACT1 NM_016651 human genbank 54_36p +1 validated missense c.2023 p.D675N 0.685 NULL NULL - no_errors CSH1 1442 genome.wustl.edu 36 17 59326587 59326587 + Missense_Mutation SNP T T C novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 17 59326587 59326587 T C SNP CSH1 NM_022640 human genbank 54_36p -1 reviewed missense c.434 p.E145G 0.994 HMMPfam_Hormone_1,superfamily_4_helix_cytokine HMMPfam_Hormone_1,superfamily_4_helix_cytokine,PatternScan_SOMATOTROPIN_1 - no_errors GH1 2688 genome.wustl.edu 36 17 59348599 59348599 + Splice_Site SNP C C T novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 17 59348599 59348599 C T SNP GH1 NM_000515 human genbank 54_36p -1 reviewed splice_site c.457-1 e5-1 0.944 - - - no_errors DIAPH3 81624 genome.wustl.edu 36 13 59443194 59443194 + Silent SNP A A C novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 13 59443194 59443194 A C SNP DIAPH3 NM_001042517 human genbank 54_36p -1 validated silent c.1752 p.G584 0.414 NULL HMMPfam_Drf_GBD,HMMPfam_Drf_FH3,superfamily_Formin homology 2 domain (FH2 domain),HMMSmart_SM00498,HMMPfam_FH2,PatternScan_RNASE_PANCREATIC,HMMPfam_Drf_DAD - no_errors SNHG1 0 genome.wustl.edu 36 11 62376655 62376655 + RNA SNP C C T novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 11 62376655 62376655 C T SNP SNHG1 NR_003098 human genbank 54_36p -1 provisional rna NULL NULL 0.004 - - - no_errors NOX5 79400 genome.wustl.edu 36 15 67105962 67105962 + Missense_Mutation SNP G G A novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 15 67105962 67105962 G A SNP NOX5 NM_024505 human genbank 54_36p +1 provisional missense c.37 p.V13M 1.000 superfamily_SSF47473 superfamily_SSF47473,HMMSmart_EFh,HMMPfam_efhand,PatternScan_EF_HAND_1,HMMPfam_Ferric_reduct,superfamily_Riboflavin_synthase_like_b-brl,HMMPfam_FAD_binding_8,superfamily_SSF52343,HMMPfam_NAD_binding_6 - no_errors PLEK 5341 genome.wustl.edu 36 2 68467148 68467148 + Silent SNP C C A novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 2 68467148 68467148 C A SNP PLEK NM_002664 human genbank 54_36p +1 validated silent c.483 p.V161 0.957 superfamily_SSF46785,HMMPfam_DEP,HMMSmart_DEP superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,superfamily_SSF46785,HMMPfam_DEP,HMMSmart_DEP - no_errors SLC39A9 55334 genome.wustl.edu 36 14 68935910 68935910 + Missense_Mutation SNP T T A novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 14 68935910 68935910 T A SNP SLC39A9 NM_018375 human genbank 54_36p +1 validated missense c.71 p.I24N 1.000 HMMPfam_Zip HMMPfam_Zip - no_errors BDP1 55814 genome.wustl.edu 36 5 70855879 70855879 + Silent SNP T T G novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 5 70855879 70855879 T G SNP BDP1 NM_018429 human genbank 54_36p +1 reviewed silent c.5745 p.S1915 1.000 NULL superfamily_Homeodomain-like,HMMSmart_SM00717,HMMPfam_Myb_DNA-binding,PatternScan_DNA_LIGASE_A1 - no_errors POM121 9883 genome.wustl.edu 36 7 72048375 72048375 + Missense_Mutation SNP G G A novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 7 72048375 72048375 G A SNP POM121 NM_172020 human genbank 54_36p +1 reviewed missense c.700 p.G234S 0.940 NULL NULL - no_errors ELN 2006 genome.wustl.edu 36 7 73094881 73094881 + Silent SNP G G C novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 7 73094881 73094881 G C SNP ELN NM_000501 human genbank 54_36p +1 reviewed silent c.234 p.G78 0.369 NULL PatternScan_ENDONUCLEASE_III_2,PatternScan_HEXAPEP_TRANSFERASES - no_errors UCP3 7352 genome.wustl.edu 36 11 73393199 73393199 + Silent SNP C C G novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 11 73393199 73393199 C G SNP UCP3 NM_003356 human genbank 54_36p -1 reviewed silent c.621 p.L207 1.000 superfamily_Mitochondrial carrier,HMMPfam_Mito_carr superfamily_Mitochondrial carrier,HMMPfam_Mito_carr - no_errors RPS6KL1 83694 genome.wustl.edu 36 14 74447778 74447778 + Missense_Mutation SNP A A C novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 14 74447778 74447778 A C SNP RPS6KL1 NM_031464 human genbank 54_36p -1 validated missense c.497 p.V166G 0.996 superfamily_Kinase_like HMMSmart_MIT,HMMPfam_MIT,superfamily_Kinase_like,HMMPfam_Pkinase - no_errors ANGEL1 23357 genome.wustl.edu 36 14 76342818 76342818 + Silent SNP T T G novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 14 76342818 76342818 T G SNP ANGEL1 NM_015305 human genbank 54_36p -1 validated silent c.1074 p.L358 0.997 HMMPfam_Exo_endo_phos,superfamily_Exo_endo_phos HMMPfam_Exo_endo_phos,superfamily_Exo_endo_phos - no_errors PAK1 5058 genome.wustl.edu 36 11 76744360 76744360 + Splice_Site SNP C C A novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 11 76744360 76744360 C A SNP PAK1 NM_002576 human genbank 54_36p -1 reviewed splice_site c.772+1 e6+1 1.000 - - - no_errors NARF 26502 genome.wustl.edu 36 17 78036790 78036790 + Missense_Mutation SNP A A C novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 17 78036790 78036790 A C SNP NARF NM_012336 human genbank 54_36p +1 reviewed missense c.1100 p.H367P 1.000 superfamily_Fe-only hydrogenase,HMMPfam_Fe_hyd_lg_C superfamily_Fe-only hydrogenase,HMMPfam_Fe_hyd_lg_C,HMMPfam_Fe_hyd_SSU - no_errors AKAP13 11214 genome.wustl.edu 36 15 83924500 83924500 + Missense_Mutation SNP C C G novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 15 83924500 83924500 C G SNP AKAP13 NM_006738 human genbank 54_36p +1 reviewed missense c.2197 p.P733A 0.000 NULL superfamily_ANK,HMMPfam_RII_binding_1,superfamily_SSF57889,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,PatternScan_EF_HAND_1,superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,HMMPfam_PH,superfamily_SSF50729,HMMSmart_PH - no_errors ABCB4 5244 genome.wustl.edu 36 7 86906971 86906971 + Missense_Mutation SNP G G A novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 7 86906971 86906971 G A SNP ABCB4 NM_018849 human genbank 54_36p -1 reviewed missense c.1679 p.T560M 0.996 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 SHC3 53358 genome.wustl.edu 36 9 90879937 90879937 + Silent SNP G A A novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 9 90879937 90879937 G A SNP SHC3 NM_016848 human genbank 54_36p -1 validated silent c.636 p.I212 1.000 superfamily_PH domain-like,HMMSmart_SM00462,HMMPfam_PID superfamily_PH domain-like,HMMSmart_SM00462,HMMPfam_PID,superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2 - no_errors SLC24A4 123041 genome.wustl.edu 36 14 91985174 91985174 + Silent SNP C C T novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 14 91985174 91985174 C T SNP SLC24A4 NM_153646 human genbank 54_36p +1 validated silent c.690 p.Y230 1.000 NULL HMMPfam_Na_Ca_ex - no_errors DIAPH2 1730 genome.wustl.edu 36 X 95899905 95899905 + Missense_Mutation SNP G G T novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 X 95899905 95899905 G T SNP DIAPH2 NM_006729 human genbank 54_36p +1 reviewed missense c.439 p.A147S 1.000 HMMPfam_Drf_GBD HMMPfam_Drf_GBD,HMMPfam_Drf_FH3,superfamily_Formin homology 2 domain (FH2 domain),HMMSmart_SM00498,HMMPfam_FH2,HMMPfam_Drf_DAD - no_errors CYP3A43 64816 genome.wustl.edu 36 7 99297267 99297267 + Silent SNP G G C novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 7 99297267 99297267 G C SNP CYP3A43 NM_022820 human genbank 54_36p +1 reviewed silent c.1122 p.T374 0.986 HMMPfam_p450,superfamily_Cytochrome P450 HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450 - no_errors LRCH4 4034 genome.wustl.edu 36 7 100012563 100012563 + Missense_Mutation SNP C C T novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 7 100012563 100012563 C T SNP LRCH4 NM_002319 human genbank 54_36p -1 reviewed missense c.1366 p.G456S 0.032 NULL superfamily_SSF52058,HMMSmart_LRR_TYP,HMMPfam_LRR_1,HMMPfam_CH,superfamily_Calponin-homology,HMMSmart_CH - no_errors ZAN 7455 genome.wustl.edu 36 7 100207498 100207498 + Silent SNP C C T novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 7 100207498 100207498 C T SNP ZAN ENST00000349350 human ensembl 54_36p +1 known silent c.5344 p.L1782 0.862 HMMPfam_C8 HMMSmart_SM00137,HMMPfam_MAM,PatternScan_MAM_1,superfamily_Serine proterase inhibitors,HMMPfam_TIL,PatternScan_EGF_2,HMMSmart_SM00215,HMMPfam_TIL_assoc,HMMSmart_SM00216,HMMPfam_VWD,HMMPfam_C8,HMMSmart_SM00181,HMMSmart_SM00214,superfamily_EGF/Laminin,HMMPfam_EGF,PatternScan_EGF_1 - no_errors MAP4K4 9448 genome.wustl.edu 36 2 101857023 101857023 + Missense_Mutation SNP C C T novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 2 101857023 101857023 C T SNP MAP4K4 NM_145686 human genbank 54_36p +1 reviewed missense c.2926 p.P976S 1.000 NULL superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_SM00036,HMMPfam_CNH - no_errors POLR3B 55703 genome.wustl.edu 36 12 105362483 105362483 + Missense_Mutation SNP G G A novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 12 105362483 105362483 G A SNP POLR3B NM_018082 human genbank 54_36p +1 provisional missense c.2068 p.G690R 1.000 superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase,HMMPfam_RNA_pol_Rpb2_6 superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase,HMMPfam_RNA_pol_Rpb2_1,HMMPfam_RNA_pol_Rpb2_2,HMMPfam_RNA_pol_Rpb2_3,HMMPfam_RNA_pol_Rpb2_4,HMMPfam_RNA_pol_Rpb2_5,HMMPfam_RNA_pol_Rpb2_6,PatternScan_RNA_POL_BETA,HMMPfam_RNA_pol_Rpb2_7 - no_errors SLC26A3 1811 genome.wustl.edu 36 7 107210987 107210987 + Missense_Mutation SNP C C T novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 7 107210987 107210987 C T SNP SLC26A3 NM_000111 human genbank 54_36p -1 reviewed missense c.1018 p.V340I 0.004 HMMPfam_Sulfate_transp PatternScan_SLC26A,HMMPfam_Sulfate_transp,superfamily_STAS,HMMPfam_STAS - no_errors COL4A2 1284 genome.wustl.edu 36 13 109758452 109758452 + Missense_Mutation SNP T T C novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 13 109758452 109758452 T C SNP COL4A2 NM_001846 human genbank 54_36p +1 reviewed missense c.80 p.L27P 0.050 NULL HMMPfam_Collagen,HMMPfam_C4,HMMSmart_C4,superfamily_C-type_lectin_fold - no_errors MORC1 27136 genome.wustl.edu 36 3 110171231 110171231 + Missense_Mutation SNP T T G novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 3 110171231 110171231 T G SNP MORC1 NM_014429 human genbank 54_36p -1 reviewed missense c.2579 p.K860T 0.834 NULL superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase,HMMPfam_HATPase_c,HMMPfam_zf-CW - no_errors C12orf51 283450 genome.wustl.edu 36 12 111165918 111165918 + Silent SNP G G A novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 12 111165918 111165918 G A SNP C12orf51 NM_001109662 human genbank 54_36p -1 validated silent c.3414 p.S1138 1.000 NULL superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT - no_errors SVEP1 79987 genome.wustl.edu 36 9 112209637 112209637 + Silent SNP T T C novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 9 112209637 112209637 T C SNP SVEP1 NM_153366 human genbank 54_36p -1 validated silent c.8064 p.G2688 0.899 HMMSmart_SM00032,HMMPfam_Sushi,superfamily_Complement control module/SCR domain superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,superfamily_Growth factor receptor domain,PatternScan_EGF_2,HMMPfam_GCC2_GCC3,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_HYR,superfamily_EGF/Laminin,HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_CA,PatternScan_ASX_HYDROXYL,HMMSmart_SM00159,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Pentaxin,HMMPfam_EGF_CA,HMMPfam_EGF_2 - no_errors SVEP1 79987 genome.wustl.edu 36 9 112210144 112210144 + Silent SNP G G A novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 9 112210144 112210144 G A SNP SVEP1 NM_153366 human genbank 54_36p -1 validated silent c.7557 p.T2519 0.289 HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain PatternScan_ASX_HYDROXYL,HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_Pentaxin,HMMSmart_SM00159,HMMSmart_SM00179,HMMPfam_VWA,HMMSmart_SM00327,HMMPfam_HYR,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Growth factor receptor domain,HMMPfam_GCC2_GCC3,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,HMMPfam_EGF_2,superfamily_Complement control module/SCR domain,PatternScan_EGF_CA,superfamily_vWA-like,superfamily_EGF/Laminin - no_errors SIDT2 51092 genome.wustl.edu 36 11 116557996 116557996 + Missense_Mutation SNP C C G novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 11 116557996 116557996 C G SNP SIDT2 NM_001040455 human genbank 54_36p +1 validated missense c.481 p.Q161E 0.803 NULL NULL - no_errors FLNC 2318 genome.wustl.edu 36 7 128277714 128277714 + Missense_Mutation SNP C C A novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 7 128277714 128277714 C A SNP FLNC NM_001458 human genbank 54_36p +1 reviewed missense c.5339 p.S1780Y 1.000 HMMSmart_SM00557 superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_E set domains,HMMPfam_Filamin,HMMSmart_SM00557 - no_errors ADAMTS8 11095 genome.wustl.edu 36 11 129794236 129794236 + Silent SNP G G A novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 11 129794236 129794236 G A SNP ADAMTS8 NM_007037 human genbank 54_36p -1 reviewed silent c.882 p.C294 1.000 "superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin" "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,HMMSmart_SM00608,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1" - no_errors TCERG1L 256536 genome.wustl.edu 36 10 132855087 132855087 + Missense_Mutation SNP C C T novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 10 132855087 132855087 C T SNP TCERG1L NM_174937 human genbank 54_36p -1 validated missense c.908 p.R303Q 0.009 NULL PatternScan_WW_DOMAIN_1,superfamily_WW_Rsp5_WWP,HMMSmart_WW,HMMPfam_WW,superfamily_FF,HMMSmart_FF,HMMPfam_FF - no_errors FAM131B 9715 genome.wustl.edu 36 7 142766069 142766069 + Missense_Mutation SNP C C T novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 7 142766069 142766069 C T SNP FAM131B NM_001031690 human genbank 54_36p -1 validated missense c.355 p.G119S 0.999 NULL NULL - no_errors BAI1 575 genome.wustl.edu 36 8 143567741 143567741 + Silent SNP G G C novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 8 143567741 143567741 G C SNP BAI1 NM_001702 human genbank 54_36p +1 reviewed silent c.2571 p.V857 1.000 NULL superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMSmart_SM00008,HMMPfam_HRM,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2 - no_errors NR3C2 4306 genome.wustl.edu 36 4 149577381 149577381 + Missense_Mutation SNP G G A novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 4 149577381 149577381 G A SNP NR3C2 NM_000901 human genbank 54_36p -1 validated missense c.82 p.R28C 0.847 NULL HMMSmart_ZnF_C4,HMMPfam_zf-C4,superfamily_SSF57716,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Str_ncl_receptor,HMMSmart_HOLI,HMMPfam_Hormone_recep - no_errors FLG 2312 genome.wustl.edu 36 1 150542451 150542451 + Silent SNP G G A novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 1 150542451 150542451 G A SNP FLG NM_002016 human genbank 54_36p -1 provisional silent c.11535 p.S3845 0.000 HMMPfam_Filaggrin superfamily_SSF47473,HMMPfam_S_100,PatternScan_S100_CABP,PatternScan_EF_HAND_1,HMMPfam_Filaggrin - no_errors L1CAM 3897 genome.wustl.edu 36 X 152784148 152784148 + Missense_Mutation SNP A A C novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 X 152784148 152784148 A C SNP L1CAM NM_000425 human genbank 54_36p -1 reviewed missense c.2549 p.V850G 1.000 superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3 HMMPfam_I-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3 - no_errors HCN3 57657 genome.wustl.edu 36 1 153520970 153520970 + Missense_Mutation SNP G G A novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 1 153520970 153520970 G A SNP HCN3 NM_020897 human genbank 54_36p +1 validated missense c.887 p.R296H 1.000 superfamily_SSF81324,HMMPfam_Ion_trans PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2,HMMPfam_Ion_trans_N,superfamily_SSF81324,HMMPfam_Ion_trans,superfamily_cNMP_binding,HMMSmart_cNMP,HMMPfam_cNMP_binding - no_errors HMCN1 83872 genome.wustl.edu 36 1 184229040 184229040 + Missense_Mutation SNP C C G novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 1 184229040 184229040 C G SNP HMCN1 NM_031935 human genbank 54_36p +1 reviewed missense c.3481 p.Q1161E 1.000 HMMPfam_I-set,superfamily_Immunoglobulin,HMMSmart_SM00409 superfamily_vWA-like,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig,HMMSmart_SM00408,HMMPfam_I-set,HMMSmart_SM00406,PatternScan_CECROPIN,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMSmart_SM00682,HMMPfam_G2F,superfamily_GFP-like,PatternScan_EGF_CA,HMMSmart_SM00179,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_ASX_HYDROXYL,HMMPfam_EGF_CA,PatternScan_EGF_2 - no_errors EPHA4 2043 genome.wustl.edu 36 2 222136781 222136781 + Missense_Mutation SNP T T G novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 2 222136781 222136781 T G SNP EPHA4 NM_004438 human genbank 54_36p -1 reviewed missense c.737 p.Y246S 1.000 NULL superfamily_Gal_bind_like,HMMPfam_Ephrin_lbd,HMMSmart_EPH_lbd,PatternScan_RECEPTOR_TYR_KIN_V_1,PatternScan_RECEPTOR_TYR_KIN_V_2,superfamily_FN_III-like,HMMPfam_fn3,HMMSmart_FN3,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR,superfamily_SAM_homology,HMMSmart_SAM,HMMPfam_SAM_2 - no_errors TRIM17 51127 genome.wustl.edu 36 1 226669101 226669101 + Missense_Mutation SNP C T T novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 1 226669101 226669101 C T SNP TRIM17 NM_001024940 human genbank 54_36p -1 reviewed missense c.296 p.C99Y 0.135 superfamily_SSF57850,HMMPfam_zf-B_box,HMMSmart_BBOX superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_BBOX,HMMSmart_PRY,HMMPfam_SPRY,HMMSmart_SPRY - no_errors OR2T33 391195 genome.wustl.edu 36 1 246503189 246503189 + Missense_Mutation SNP C C T novel unknown TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 20010c6e-bfe6-4508-9d0c-9288b7a59040 276aadad-c777-425a-b847-f7e8749e7f99 1 246503189 246503189 C T SNP OR2T33 NM_001004695 human genbank 54_36p -1 provisional missense c.551 p.R184H 0.001 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