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 LOC100133120 0 genome.wustl.edu 36 7 57375 57375 + RNA SNP G A A novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 7 57375 57375 G A SNP LOC100133120 XR_037156 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene PXDN 7837 genome.wustl.edu 36 2 1649241 1649241 + Missense_Mutation SNP G G C novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 2 1649241 1649241 G C SNP PXDN NM_012293 human genbank 54_36p -1 validated missense c.1043 p.P348R 0.999 superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409 superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00082,HMMPfam_LRRCT,superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Heme-dependent peroxidases,HMMPfam_An_peroxidase,HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1 - no_errors ARRB2 409 genome.wustl.edu 36 17 4570442 4570442 + Missense_Mutation SNP T T C novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 17 4570442 4570442 T C SNP ARRB2 NM_004313 human genbank 54_36p +1 reviewed missense c.1007 p.V336A 1.000 superfamily_E set domains,HMMPfam_Arrestin_C superfamily_E set domains,HMMPfam_Arrestin_N,PatternScan_ARRESTINS,HMMPfam_Arrestin_C - no_errors APITD1 378708 genome.wustl.edu 36 1 10416543 10416543 + Missense_Mutation SNP G G C novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 1 10416543 10416543 G C SNP APITD1 NM_198544 human genbank 54_36p +1 reviewed missense c.109 p.D37H 0.969 superfamily_Histone-fold superfamily_Histone-fold,HMMPfam_Somatostatin - no_errors PRB2 653247 genome.wustl.edu 36 12 11437548 11437548 + Missense_Mutation SNP C T T novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 12 11437548 11437548 C T SNP PRB2 NM_006248 human genbank 54_36p -1 validated missense c.668 p.G223E 0.002 NULL NULL - no_errors VPS13D 55187 genome.wustl.edu 36 1 12331893 12331893 + Silent SNP C C G novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 1 12331893 12331893 C G SNP VPS13D NM_015378 human genbank 54_36p +1 reviewed silent c.9306 p.P3102 0.986 NULL superfamily_UBA-like,HMMPfam_UBA,HMMSmart_SM00165,HMMPfam_DUF1162 - no_errors TRPV2 51393 genome.wustl.edu 36 17 16277647 16277647 + Missense_Mutation SNP A T T novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 17 16277647 16277647 A T SNP TRPV2 NM_016113 human genbank 54_36p +1 reviewed missense c.2024 p.Y675F 0.617 NULL superfamily_ANK,HMMPfam_Ank,HMMSmart_ANK,HMMPfam_Ion_trans - no_errors SLC7A2 6542 genome.wustl.edu 36 8 17446455 17446455 + Missense_Mutation SNP G G T novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 8 17446455 17446455 G T SNP SLC7A2 NM_003046 human genbank 54_36p +1 validated missense c.616 p.D206Y 0.998 NULL HMMPfam_AA_permease - no_errors VSIG7 390531 genome.wustl.edu 36 15 18430004 18430004 + Silent SNP G G A novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 15 18430004 18430004 G A SNP VSIG7 ENST00000338912 human ensembl 54_36p -1 known silent c.282 p.S94 0.424 HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IGv HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IGv - no_errors UEVLD 55293 genome.wustl.edu 36 11 18543105 18543105 + Missense_Mutation SNP C C G novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 11 18543105 18543105 C G SNP UEVLD NM_001040697 human genbank 54_36p -1 validated missense c.522 p.W174C 0.971 superfamily_NAD(P)-binding Rossmann-fold domains superfamily_UBC-like,HMMPfam_UEV,superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_Ldh_1_N,superfamily_LDH C-terminal domain-like,HMMPfam_Ldh_1_C - no_errors RIN2 54453 genome.wustl.edu 36 20 19904238 19904238 + Silent SNP G G A novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 20 19904238 19904238 G A SNP RIN2 NM_018993 human genbank 54_36p +1 reviewed silent c.1569 p.R523 1.000 NULL superfamily_SH2 domain,superfamily_VPS9 domain (Pfam 02204),HMMSmart_SM00167,HMMPfam_VPS9,HMMPfam_RA,HMMSmart_SM00314 - no_errors DNAH11 8701 genome.wustl.edu 36 7 21606197 21606197 + Missense_Mutation SNP A A G novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 7 21606197 21606197 A G SNP DNAH11 ENST00000328843 human ensembl 54_36p +1 known missense c.2935 p.N979D 0.000 NULL HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,PatternScan_THIOL_PROTEASE_HIS,HMMPfam_AAA_5,PatternScan_WD_REPEATS_1,HMMPfam_Dynein_heavy - no_errors CDCA7L 55536 genome.wustl.edu 36 7 21908390 21908390 + Splice_Site SNP T T A novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 7 21908390 21908390 T A SNP CDCA7L ENST00000373934 human ensembl 54_36p -1 known splice_site c.1365+1 e10+1 0.003 - - - no_errors TNRC6A 27327 genome.wustl.edu 36 16 24725471 24725471 + Nonsense_Mutation SNP C C T novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 16 24725471 24725471 C T SNP TNRC6A NM_014494 human genbank 54_36p +1 reviewed nonsense c.4405 p.Q1469* 1.000 NULL PatternScan_TUBULIN_B_AUTOREG,HMMPfam_Ago_hook,superfamily_RNA-binding domain RBD - no_errors SLC30A2 7780 genome.wustl.edu 36 1 26240846 26240846 + Missense_Mutation SNP A A C novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 1 26240846 26240846 A C SNP SLC30A2 NM_001004434 human genbank 54_36p -1 validated missense c.770 p.V257G 1.000 HMMPfam_Cation_efflux HMMPfam_Cation_efflux - no_errors ASXL3 80816 genome.wustl.edu 36 18 29480238 29480238 + Missense_Mutation SNP C C T novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 18 29480238 29480238 C T SNP ASXL3 NM_030632 human genbank 54_36p +1 validated missense c.278 p.T93M 0.996 NULL NULL - no_errors ROMO1 140823 genome.wustl.edu 36 20 33751081 33751081 + Missense_Mutation SNP G G C novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 20 33751081 33751081 G C SNP ROMO1 NM_080748 human genbank 54_36p +1 validated missense c.113 p.G38A 1.000 HMMPfam_Mit_gmP HMMPfam_Mit_gmP - no_errors KCNK17 89822 genome.wustl.edu 36 6 39386734 39386734 + Missense_Mutation SNP C T T novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 6 39386734 39386734 C T SNP KCNK17 NM_031460 human genbank 54_36p -1 reviewed missense c.265 p.A89T 0.000 superfamily_SSF81324,HMMPfam_Ion_trans_2 superfamily_SSF81324,HMMPfam_Ion_trans_2 - no_errors SETBP1 26040 genome.wustl.edu 36 18 40897137 40897137 + Missense_Mutation SNP A T T novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 18 40897137 40897137 A T SNP SETBP1 NM_015559 human genbank 54_36p +1 validated missense c.4105 p.T1369S 1.000 NULL HMMPfam_AT_hook,HMMSmart_AT_hook - no_errors FOXP4 116113 genome.wustl.edu 36 6 41641602 41641602 + Silent SNP G G C novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 6 41641602 41641602 G C SNP FOXP4 NM_001012426 human genbank 54_36p +1 reviewed silent c.126 p.T42 0.238 NULL "PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00339,superfamily_""Winged helix"" DNA-binding domain,HMMPfam_Fork_head,PatternScan_FORK_HEAD_2" - no_errors B4GALNT2 124872 genome.wustl.edu 36 17 44601997 44601997 + Missense_Mutation SNP A A T novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 17 44601997 44601997 A T SNP B4GALNT2 NM_153446 human genbank 54_36p +1 provisional missense c.1609 p.T537S 0.492 NULL superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glycos_transf_2 - no_errors OGDH 4967 genome.wustl.edu 36 7 44703122 44703122 + Missense_Mutation SNP G G A novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 7 44703122 44703122 G A SNP OGDH NM_002541 human genbank 54_36p +1 reviewed missense c.1985 p.G662D 1.000 superfamily_SSF52518,HMMPfam_Transket_pyr superfamily_SSF52518,HMMPfam_E1_dh,HMMPfam_Transket_pyr - no_errors GPBP1L1 60313 genome.wustl.edu 36 1 45868799 45868799 + Missense_Mutation SNP C C T novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 1 45868799 45868799 C T SNP GPBP1L1 NM_021639 human genbank 54_36p -1 validated missense c.1111 p.A371T 0.969 NULL NULL - no_errors PIGF 5281 genome.wustl.edu 36 2 46692894 46692894 + Nonsense_Mutation SNP C C T novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 2 46692894 46692894 C T SNP PIGF NM_002643 human genbank 54_36p -1 reviewed nonsense c.414 p.W138* 1.000 HMMPfam_PIG-F HMMPfam_PIG-F - no_errors SCN8A 6334 genome.wustl.edu 36 12 50379731 50379731 + Missense_Mutation SNP T T C novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 12 50379731 50379731 T C SNP SCN8A NM_014191 human genbank 54_36p +1 validated missense c.817 p.F273L 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 LOC343184 343184 genome.wustl.edu 36 1 50564569 50564569 + RNA SNP G G T novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 1 50564569 50564569 G T SNP LOC343184 XR_016832 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene FAM120C 54954 genome.wustl.edu 36 X 54178044 54178044 + Missense_Mutation SNP C G G novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b X 54178044 54178044 C G SNP FAM120C NM_017848 human genbank 54_36p -1 validated missense c.1561 p.D521H 0.999 NULL NULL - no_errors CD37 951 genome.wustl.edu 36 19 54530833 54530833 + Missense_Mutation SNP G G C novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 19 54530833 54530833 G C SNP CD37 NM_001774 human genbank 54_36p +1 reviewed missense c.120 p.K40N 1.000 HMMPfam_Tetraspannin HMMPfam_Tetraspannin,PatternScan_TM4_1,superfamily_Tetraspanin - no_errors TCEA1 6917 genome.wustl.edu 36 8 55085586 55085586 + Missense_Mutation SNP A A T novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 8 55085586 55085586 A T SNP TCEA1 NM_006756 human genbank 54_36p -1 validated missense c.83 p.L28Q 1.000 superfamily_Conserved domain common to transcription factors TFIIS elongin A CRSP70,HMMPfam_TFIIS,HMMSmart_SM00509 superfamily_Conserved domain common to transcription factors TFIIS elongin A CRSP70,HMMPfam_TFIIS,HMMSmart_SM00509,superfamily_Elongation factor TFIIS domain 2,HMMPfam_TFIIS_M,HMMSmart_SM00510,superfamily_Zinc beta-ribbon,HMMPfam_TFIIS_C,HMMSmart_SM00440,PatternScan_ZF_TFIIS_1 - no_errors OR4C16 219428 genome.wustl.edu 36 11 55096538 55096538 + Missense_Mutation SNP G G A novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 11 55096538 55096538 G A SNP OR4C16 NM_001004701 human genbank 54_36p +1 validated missense c.359 p.R120H 1.000 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors ZNF473 25888 genome.wustl.edu 36 19 55239975 55239975 + Missense_Mutation SNP G G C novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 19 55239975 55239975 G C SNP ZNF473 NM_001006656 human genbank 54_36p +1 validated missense c.463 p.G155R 0.001 NULL 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 MYBPC2 4606 genome.wustl.edu 36 19 55631693 55631693 + Missense_Mutation SNP C C A novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 19 55631693 55631693 C A SNP MYBPC2 NM_004533 human genbank 54_36p +1 validated missense c.353 p.T118N 0.999 superfamily_SSF48726,HMMSmart_IG superfamily_SSF48726,HMMSmart_IG,HMMPfam_I-set,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3,HMMSmart_IGc2 - no_errors ERC2 26059 genome.wustl.edu 36 3 55708477 55708477 + Missense_Mutation SNP T T G novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 3 55708477 55708477 T G SNP ERC2 NM_015576 human genbank 54_36p -1 validated missense c.2816 p.Q939P 0.998 NULL HMMPfam_Cast,superfamily_Prefoldin - no_errors NLRP7 199713 genome.wustl.edu 36 19 60136885 60136885 + Missense_Mutation SNP T T C novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 19 60136885 60136885 T C SNP NLRP7 NM_139176 human genbank 54_36p -1 reviewed missense c.2422 p.K808E 0.003 superfamily_SSF52047 superfamily_DEATH_like,HMMPfam_PAAD_DAPIN,superfamily_SSF52540,HMMPfam_NACHT,superfamily_SSF52047 - no_errors HSF4 3299 genome.wustl.edu 36 16 65758533 65758533 + Missense_Mutation SNP G G T novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 16 65758533 65758533 G T SNP HSF4 NM_001040667 human genbank 54_36p +1 reviewed missense c.636 p.M212I 1.000 NULL "superfamily_""Winged helix"" DNA-binding domain,HMMSmart_SM00415,HMMPfam_HSF_DNA-bind,PatternScan_HSF_DOMAIN" - no_errors LEPR 3953 genome.wustl.edu 36 1 65874502 65874502 + Nonsense_Mutation SNP C C G novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 1 65874502 65874502 C G SNP LEPR NM_002303 human genbank 54_36p +1 validated nonsense c.2714 p.S905* 0.848 NULL superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,PatternScan_HEMATOPO_REC_S_F1,HMMPfam_Lep_receptor_Ig,PatternScan_HEMATOPO_REC_L_F2 - no_errors LOC441442 0 genome.wustl.edu 36 9 67847653 67847653 + RNA SNP C C T novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 9 67847653 67847653 C T SNP LOC441442 XR_037084 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene TPCN2 219931 genome.wustl.edu 36 11 68578837 68578837 + Nonsense_Mutation SNP C C T novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 11 68578837 68578837 C T SNP TPCN2 NM_139075 human genbank 54_36p +1 validated nonsense c.247 p.Q83* 1.000 superfamily_SSF81324 superfamily_SSF81324,HMMPfam_Ion_trans - no_errors STOX1 219736 genome.wustl.edu 36 10 70315169 70315169 + Missense_Mutation SNP G G T novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 10 70315169 70315169 G T SNP STOX1 NM_152709 human genbank 54_36p +1 provisional missense c.1611 p.L537F 0.993 NULL HMMPfam_Stork_head - no_errors RPS3 6188 genome.wustl.edu 36 11 74789474 74789474 + Missense_Mutation SNP G G A novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 11 74789474 74789474 G A SNP RPS3 NM_001005 human genbank 54_36p +1 reviewed missense c.119 p.R40Q 1.000 superfamily_Prokaryotic type KH domain (KH-domain type II) superfamily_Prokaryotic type KH domain (KH-domain type II),HMMPfam_KH_2,superfamily_Ribosomal protein S3 C-terminal domain,HMMPfam_Ribosomal_S3_C,PatternScan_RIBOSOMAL_S3 - no_errors ADAMTS18 170692 genome.wustl.edu 36 16 76022993 76022993 + Silent SNP C C A novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 16 76022993 76022993 C A SNP ADAMTS18 NM_199355 human genbank 54_36p -1 reviewed silent c.195 p.T65 0.995 HMMPfam_Pep_M12B_propep "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1,HMMPfam_PLAC" - no_errors KIF27 55582 genome.wustl.edu 36 9 85691866 85691866 + Missense_Mutation SNP G G A novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 9 85691866 85691866 G A SNP KIF27 NM_017576 human genbank 54_36p -1 provisional missense c.2149 p.R717C 0.432 NULL HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1 - no_errors CLCA4 22802 genome.wustl.edu 36 1 86818581 86818581 + Missense_Mutation SNP G G C novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 1 86818581 86818581 G C SNP CLCA4 NM_012128 human genbank 54_36p +1 reviewed missense c.2725 p.V909L 0.006 NULL HMMPfam_CLCA_N,superfamily_SSF53300,HMMSmart_VWA,HMMPfam_VWA,HMMPfam_DUF1973 - no_errors FAM35A 54537 genome.wustl.edu 36 10 88902041 88902041 + Missense_Mutation SNP G T T novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 10 88902041 88902041 G T SNP FAM35A NM_019054 human genbank 54_36p +1 validated missense c.950 p.C317F 0.155 NULL NULL - no_errors GPR83 10888 genome.wustl.edu 36 11 93774044 93774044 + Silent SNP C C T novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 11 93774044 93774044 C T SNP GPR83 NM_016540 human genbank 54_36p -1 validated silent c.18 p.L6 0.568 NULL superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors RAP2A 5911 genome.wustl.edu 36 13 96884900 96884900 + Missense_Mutation SNP G G C novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 13 96884900 96884900 G C SNP RAP2A NM_021033 human genbank 54_36p +1 validated missense c.175 p.A59P 1.000 HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174,HMMSmart_SM00176 HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174,HMMSmart_SM00176 - no_errors MTERFD1 51001 genome.wustl.edu 36 8 97320931 97320931 + Silent SNP T T C novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 8 97320931 97320931 T C SNP MTERFD1 NM_015942 human genbank 54_36p -1 provisional silent c.1218 p.S406 0.715 NULL HMMPfam_mTERF,HMMSmart_SM00733 - no_errors TMEM131 23505 genome.wustl.edu 36 2 97792648 97792648 + Missense_Mutation SNP C C A novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 2 97792648 97792648 C A SNP TMEM131 NM_015348 human genbank 54_36p -1 validated missense c.1990 p.A664S 1.000 NULL NULL - no_errors HABP4 22927 genome.wustl.edu 36 9 98267509 98267509 + Silent SNP C C G novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 9 98267509 98267509 C G SNP HABP4 NM_014282 human genbank 54_36p +1 validated silent c.582 p.G194 0.998 NULL HMMPfam_HABP4_PAI-RBP1 - no_errors OR5K3 403277 genome.wustl.edu 36 3 99593117 99593117 + Silent SNP A A G novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 3 99593117 99593117 A G SNP OR5K3 NM_001005516 human genbank 54_36p +1 provisional silent c.918 p.R306 0.000 superfamily_SSF81321 PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1 - no_errors MEPCE 56257 genome.wustl.edu 36 7 99866085 99866085 + Missense_Mutation SNP C C T novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 7 99866085 99866085 C T SNP MEPCE NM_019606 human genbank 54_36p +1 provisional missense c.508 p.R170C 1.000 NULL superfamily_SSF53335,HMMPfam_Bin3 - no_errors UTP20 27340 genome.wustl.edu 36 12 100247327 100247327 + Missense_Mutation SNP C C A novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 12 100247327 100247327 C A SNP UTP20 NM_014503 human genbank 54_36p +1 validated missense c.3386 p.T1129N 0.086 superfamily_ARM repeat superfamily_ARM repeat,HMMPfam_DRIM - no_errors NPAS2 4862 genome.wustl.edu 36 2 100971140 100971140 + Silent SNP G G A novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 2 100971140 100971140 G A SNP NPAS2 NM_002518 human genbank 54_36p +1 reviewed silent c.1797 p.L599 0.994 NULL superfamily_HLH_basic,HMMPfam_HLH,HMMSmart_HLH,HMMSmart_PAS,HMMPfam_PAS,superfamily_SSF55785,HMMPfam_PAS_3,HMMSmart_PAC - no_errors RELN 5649 genome.wustl.edu 36 7 102947061 102947061 + Missense_Mutation SNP C C A novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 7 102947061 102947061 C A SNP RELN NM_005045 human genbank 54_36p -1 reviewed missense c.7807 p.G2603C 1.000 superfamily_Sialidase HMMPfam_Reeler,superfamily_SSF57196,HMMSmart_EGF,HMMPfam_EGF_2,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_Sialidase - no_errors SORCS3 22986 genome.wustl.edu 36 10 106592551 106592551 + Missense_Mutation SNP C G G novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 10 106592551 106592551 C G SNP SORCS3 NM_014978 human genbank 54_36p +1 reviewed missense c.639 p.I213M 1.000 superfamily_SSF110296 superfamily_SSF110296,HMMSmart_VPS10,HMMPfam_PKD,superfamily_PKD - no_errors FRMPD3 84443 genome.wustl.edu 36 X 106731534 106731534 + Silent SNP C A A novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b X 106731534 106731534 C A SNP FRMPD3 XM_042978 human genbank 54_36p +1 model silent c.3708 p.G1236 0.350 NULL PatternScan_FERM_1,PatternScan_FERM_2,superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ,HMMSmart_B41,superfamily_FERM_3-hlx,HMMPfam_FERM_M - no_errors ACACB 32 genome.wustl.edu 36 12 108145087 108145087 + Missense_Mutation SNP C G G novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 12 108145087 108145087 C G SNP ACACB NM_001093 human genbank 54_36p +1 reviewed missense c.3779 p.P1260R 1.000 HMMPfam_ACC_central HMMPfam_CPSase_L_chain,superfamily_PreATP-grasp domain,superfamily_Glutathione synthetase ATP-binding domain-like,HMMPfam_CPSase_L_D2,PatternScan_CPSASE_1,PatternScan_CPSASE_2,superfamily_Rudiment single hybrid motif,HMMPfam_Biotin_carb_C,superfamily_Single hybrid motif,HMMPfam_Biotin_lipoyl,HMMPfam_ACC_central,superfamily_ClpP/crotonase,HMMPfam_Carboxyl_trans - no_errors PROZ 8858 genome.wustl.edu 36 13 112862409 112862409 + Missense_Mutation SNP G A A novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 13 112862409 112862409 G A SNP PROZ NM_003891 human genbank 54_36p +1 provisional missense c.151 p.E51K 0.045 HMMSmart_SM00069,superfamily_GLA-domain,HMMPfam_Gla HMMSmart_SM00069,superfamily_GLA-domain,HMMPfam_Gla,PatternScan_GLA_1,HMMSmart_SM00181,HMMPfam_EGF,HMMSmart_SM00179,PatternScan_ASX_HYDROXYL,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_EGF/Laminin,superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin - no_errors SIDT1 54847 genome.wustl.edu 36 3 114812558 114812558 + Missense_Mutation SNP G G C novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 3 114812558 114812558 G C SNP SIDT1 NM_017699 human genbank 54_36p +1 validated missense c.1734 p.M578I 1.000 NULL NULL - no_errors RAD21 5885 genome.wustl.edu 36 8 117938780 117938780 + Missense_Mutation SNP T T C novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 8 117938780 117938780 T C SNP RAD21 NM_006265 human genbank 54_36p -1 reviewed missense c.595 p.T199A 1.000 NULL HMMPfam_Rad21_Rec8_N,HMMPfam_Rad21_Rec8 - no_errors TRIM32 22954 genome.wustl.edu 36 9 118500556 118500556 + Silent SNP C C T novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 9 118500556 118500556 C T SNP TRIM32 NM_001099679 human genbank 54_36p +1 reviewed silent c.714 p.R238 1.000 NULL superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMSmart_BBOX,superfamily_SSF101898,HMMPfam_NHL - no_errors CDGAP 57514 genome.wustl.edu 36 3 120616674 120616674 + Missense_Mutation SNP G G A novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 3 120616674 120616674 G A SNP CDGAP NM_020754 human genbank 54_36p +1 reviewed missense c.3208 p.E1070K 0.006 NULL superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP - no_errors GOLGB1 2804 genome.wustl.edu 36 3 122896823 122896823 + Missense_Mutation SNP T T A novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 3 122896823 122896823 T A SNP GOLGB1 NM_004487 human genbank 54_36p -1 validated missense c.5222 p.K1741M 0.094 HMMSmart_SM00340 superfamily_Spectrin repeat,superfamily_Prefoldin,HMMSmart_SM00340 - no_errors PARP14 54625 genome.wustl.edu 36 3 123900965 123900965 + Missense_Mutation SNP A A G novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 3 123900965 123900965 A G SNP PARP14 NM_017554 human genbank 54_36p +1 validated missense c.874 p.K292E 0.000 NULL superfamily_Macro domain-like,HMMSmart_SM00506,HMMPfam_Macro,superfamily_ADP-ribosylation,HMMPfam_PARP - no_errors C9orf119 375757 genome.wustl.edu 36 9 130088106 130088106 + Missense_Mutation SNP G A A novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 9 130088106 130088106 G A SNP C9orf119 NM_001040011 human genbank 54_36p +1 validated missense c.616 p.V206M 0.280 HMMPfam_Swi5 HMMPfam_Swi5 - no_errors AKAP7 9465 genome.wustl.edu 36 6 131644499 131644499 + Missense_Mutation SNP C C G novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 6 131644499 131644499 C G SNP AKAP7 NM_016377 human genbank 54_36p +1 reviewed missense c.921 p.S307R 0.961 HMMPfam_AKAP7_RIRII_bdg HMMPfam_AKAP7_NLS,superfamily_LigT-like,HMMPfam_AKAP7_RIRII_bdg - no_errors BCLAF1 9774 genome.wustl.edu 36 6 136638831 136638831 + Missense_Mutation SNP A A G novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 6 136638831 136638831 A G SNP BCLAF1 NM_014739 human genbank 54_36p -1 reviewed missense c.1525 p.F509L 1.000 NULL NULL - no_errors CLCN1 1180 genome.wustl.edu 36 7 142740031 142740031 + Silent SNP G G A novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 7 142740031 142740031 G A SNP CLCN1 NM_000083 human genbank 54_36p +1 reviewed silent c.1344 p.V448 0.995 superfamily_Clc chloride channel,HMMPfam_Voltage_CLC superfamily_Clc chloride channel,HMMPfam_Voltage_CLC,superfamily_CBS-domain,HMMPfam_CBS - no_errors FBXO38 81545 genome.wustl.edu 36 5 147766049 147766049 + Missense_Mutation SNP C A A novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 5 147766049 147766049 C A SNP FBXO38 NM_205836 human genbank 54_36p +1 validated missense c.767 p.T256K 1.000 superfamily_RNI-like superfamily_F-box domain,HMMPfam_F-box,superfamily_RNI-like - no_errors CUL1 8454 genome.wustl.edu 36 7 148115035 148115035 + Missense_Mutation SNP G G C novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 7 148115035 148115035 G C SNP CUL1 NM_003592 human genbank 54_36p +1 validated missense c.1369 p.E457Q 1.000 HMMPfam_Cullin,superfamily_Cullin homology domain,HMMSmart_SM00182 "superfamily_Cullin repeat,HMMPfam_Cullin,superfamily_Cullin homology domain,HMMSmart_SM00182,superfamily_""Winged helix"" DNA-binding domain,HMMPfam_Cullin_Nedd8,PatternScan_CULLIN_1" - no_errors SLC36A3 285641 genome.wustl.edu 36 5 150640908 150640908 + Missense_Mutation SNP G A A novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 5 150640908 150640908 G A SNP SLC36A3 NM_181774 human genbank 54_36p -1 validated missense c.1004 p.S335F 0.986 HMMPfam_Aa_trans HMMPfam_Aa_trans - no_errors TTC21B 79809 genome.wustl.edu 36 2 166505834 166505834 + Missense_Mutation SNP T T G novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 2 166505834 166505834 T G SNP TTC21B NM_024753 human genbank 54_36p -1 validated missense c.659 p.K220T 1.000 superfamily_TPR-like superfamily_TPR-like,HMMPfam_TPR_1,HMMSmart_SM00028 - no_errors TBP 6908 genome.wustl.edu 36 6 170712977 170712977 + Silent SNP G G A novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 6 170712977 170712977 G A SNP TBP NM_003194 human genbank 54_36p +1 reviewed silent c.228 p.Q76 0.973 NULL superfamily_TFIID_C/glycos_N,HMMPfam_TBP,PatternScan_TFIID - no_errors GPR155 151556 genome.wustl.edu 36 2 175032872 175032872 + Missense_Mutation SNP G G A novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 2 175032872 175032872 G A SNP GPR155 NM_001033045 human genbank 54_36p -1 validated missense c.1751 p.T584I 0.774 NULL "HMMPfam_Mem_trans,superfamily_""Winged helix"" DNA-binding domain,HMMSmart_SM00049,HMMPfam_DEP" - no_errors ABL2 27 genome.wustl.edu 36 1 177343584 177343584 + Silent SNP C C T novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 1 177343584 177343584 C T SNP ABL2 NM_007314 human genbank 54_36p -1 reviewed silent c.3441 p.L1147 1.000 HMMPfam_F_actin_bind,HMMSmart_SM00808 superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR,HMMPfam_F_actin_bind,HMMSmart_SM00808 - no_errors PTGS2 5743 genome.wustl.edu 36 1 184910246 184910246 + Silent SNP C C T novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 1 184910246 184910246 C T SNP PTGS2 NM_000963 human genbank 54_36p -1 reviewed silent c.1677 p.K559 0.992 superfamily_Heme-dependent peroxidases,HMMPfam_An_peroxidase superfamily_EGF/Laminin,HMMPfam_EGF,superfamily_Heme-dependent peroxidases,HMMPfam_An_peroxidase - no_errors PAK2 5062 genome.wustl.edu 36 3 198014339 198014339 + Missense_Mutation SNP G G C novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 3 198014339 198014339 G C SNP PAK2 NM_002577 human genbank 54_36p +1 reviewed missense c.343 p.E115Q 1.000 HMMPfam_PBD HMMPfam_PBD,HMMSmart_PBD,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors CACNA1S 779 genome.wustl.edu 36 1 199277310 199277310 + Missense_Mutation SNP C C G novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 1 199277310 199277310 C G SNP CACNA1S NM_000069 human genbank 54_36p -1 reviewed missense c.5079 p.E1693D 0.007 NULL superfamily_SSF81324,HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ - no_errors MAP2 4133 genome.wustl.edu 36 2 210266936 210266936 + Missense_Mutation SNP A A C novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 2 210266936 210266936 A C SNP MAP2 NM_002374 human genbank 54_36p +1 reviewed missense c.1797 p.R599S 1.000 HMMPfam_MAP2_projctn HMMPfam_RII_binding_1,HMMPfam_MAP2_projctn,HMMPfam_Tubulin-binding,PatternScan_TAU_MAP - no_errors RYR2 6262 genome.wustl.edu 36 1 236017968 236017968 + Missense_Mutation SNP G G C novel unknown TCGA-29-1769-01A-01W-0639-09 TCGA-29-1769-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6e3821b5-a446-4b2d-9ede-6be24af88e5e 093609c2-c2b8-41d0-85ac-c69048b9b06b 1 236017968 236017968 G C SNP RYR2 NM_001035 human genbank 54_36p +1 reviewed missense c.13386 p.L4462F 0.151 HMMPfam_RR_TM4-6 HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_RYDR_ITPR,HMMPfam_SPRY,HMMSmart_SM00449,HMMPfam_RyR,HMMPfam_RIH_assoc,superfamily_EF-hand,HMMPfam_RR_TM4-6,HMMPfam_Ion_trans - no_errors