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 C1orf174 339448 genome.wustl.edu 36 1 3797186 3797186 + Missense_Mutation SNP G G A novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 1 3797186 3797186 G A SNP C1orf174 NM_207356 human genbank 54_36p -1 validated missense c.425 p.P142L 0.001 NULL NULL - no_errors C10orf18 54906 genome.wustl.edu 36 10 5831431 5831431 + Missense_Mutation SNP C C G novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 10 5831431 5831431 C G SNP C10orf18 NM_017782 human genbank 54_36p +1 validated missense c.6041 p.S2014C 0.000 NULL NULL - no_errors AIPL1 23746 genome.wustl.edu 36 17 6269836 6269836 + Missense_Mutation SNP C C T novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 17 6269836 6269836 C T SNP AIPL1 NM_014336 human genbank 54_36p -1 reviewed missense c.823 p.A275T 1.000 superfamily_SSF48452 superfamily_SSF54534,superfamily_SSF48452 - no_errors ETV1 2115 genome.wustl.edu 36 7 13902024 13902024 + Missense_Mutation SNP C C T novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 7 13902024 13902024 C T SNP ETV1 ENST00000405358 human ensembl 54_36p -1 known missense c.1468 p.V490M 1.000 NULL HMMPfam_ETS_PEA3_N,superfamily_SSF46785,HMMPfam_Ets,HMMSmart_ETS,PatternScan_ETS_DOMAIN_1,PatternScan_ETS_DOMAIN_2 - no_errors OR7C2 26658 genome.wustl.edu 36 19 14913271 14913271 + Missense_Mutation SNP T T C novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 19 14913271 14913271 T C SNP OR7C2 ENST00000380000 human ensembl 54_36p +1 known missense c.97 p.F33L 0.000 NULL superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors ITGA8 8516 genome.wustl.edu 36 10 15753629 15753629 + Missense_Mutation SNP A A G novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 10 15753629 15753629 A G SNP ITGA8 NM_003638 human genbank 54_36p -1 provisional missense c.826 p.F276L 1.000 superfamily_SSF69318,HMMSmart_Int_alpha superfamily_SSF69318,HMMSmart_Int_alpha,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_SSF69179,PatternScan_INTEGRIN_ALPHA,HMMPfam_Integrin_alpha - no_errors DDI2 84301 genome.wustl.edu 36 1 15825782 15825782 + Missense_Mutation SNP A A G novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 1 15825782 15825782 A G SNP DDI2 NM_032341 human genbank 54_36p +1 provisional missense c.170 p.N57S 1.000 superfamily_Ubiquitin-like,HMMPfam_ubiquitin superfamily_Ubiquitin-like,HMMPfam_ubiquitin,HMMPfam_Asp_protease,superfamily_Acid proteases - no_errors SOSTDC1 25928 genome.wustl.edu 36 7 16471785 16471785 + Missense_Mutation SNP G G C novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 7 16471785 16471785 G C SNP SOSTDC1 NM_015464 human genbank 54_36p -1 reviewed missense c.34 p.P12A 0.983 HMMPfam_Sclerostin HMMPfam_Sclerostin - no_errors PADI2 11240 genome.wustl.edu 36 1 17295026 17295026 + Missense_Mutation SNP G G A novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 1 17295026 17295026 G A SNP PADI2 NM_007365 human genbank 54_36p -1 reviewed missense c.376 p.R126W 1.000 HMMPfam_PAD_M,superfamily_PAD_central HMMPfam_PAD_N,superfamily_Cupredoxin,HMMPfam_PAD_M,superfamily_PAD_central,HMMPfam_PAD,superfamily_SSF55909 - no_errors GYS2 2998 genome.wustl.edu 36 12 21584681 21584681 + Missense_Mutation SNP C C T novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 12 21584681 21584681 C T SNP GYS2 NM_021957 human genbank 54_36p -1 validated missense c.1739 p.R580H 1.000 HMMPfam_Glycogen_syn,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase HMMPfam_Glycogen_syn,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase - no_errors ZNF43 7594 genome.wustl.edu 36 19 21783272 21783272 + Silent SNP A A G novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 19 21783272 21783272 A G SNP ZNF43 NM_003423 human genbank 54_36p -1 validated silent c.1407 p.L469 0.000 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 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 ZNF645 158506 genome.wustl.edu 36 X 22201877 22201877 + Missense_Mutation SNP C C T novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae X 22201877 22201877 C T SNP ZNF645 NM_152577 human genbank 54_36p +1 provisional missense c.848 p.A283V 0.013 NULL PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57850,HMMSmart_RING,PatternScan_ZF_RING_1,HMMSmart_ZnF_C2H2 - no_errors PSME2 5721 genome.wustl.edu 36 14 23683281 23683281 + Missense_Mutation SNP C C T novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 14 23683281 23683281 C T SNP PSME2 NM_002818 human genbank 54_36p -1 reviewed missense c.457 p.V153I 0.965 superfamily_Prot_act_regA,HMMPfam_PA28_beta superfamily_Prot_act_regA,HMMPfam_PA28_alpha,HMMPfam_PA28_beta - no_errors LOC730087 730087 genome.wustl.edu 36 19 23907656 23907656 + Missense_Mutation SNP C C G novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 19 23907656 23907656 C G SNP LOC730087 XM_001726951 human genbank 54_36p +1 model missense c.1141 p.L381V 0.039 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355 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 LOC100133222 0 genome.wustl.edu 36 12 25453624 25453624 + Missense_Mutation SNP C C T novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 12 25453624 25453624 C T SNP LOC100133222 XM_001723495 human genbank 54_36p -1 model missense c.23 p.R8K 1.000 superfamily_Ribosomal protein L39e superfamily_Ribosomal protein L39e,HMMPfam_Ribosomal_L39 - pseudogene MYO3A 53904 genome.wustl.edu 36 10 26355387 26355387 + Missense_Mutation SNP G G T novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 10 26355387 26355387 G T SNP MYO3A NM_017433 human genbank 54_36p +1 reviewed missense c.873 p.E291D 0.018 superfamily_Kinase_like,superfamily_SSF52540 PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ - no_errors MYLK2 85366 genome.wustl.edu 36 20 29883522 29883522 + Silent SNP G G A novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 20 29883522 29883522 G A SNP MYLK2 NM_033118 human genbank 54_36p +1 reviewed silent c.1632 p.A544 0.102 NULL superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors GALNT14 79623 genome.wustl.edu 36 2 31022211 31022211 + Silent SNP G G A novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 2 31022211 31022211 G A SNP GALNT14 NM_024572 human genbank 54_36p -1 validated silent c.684 p.I228 0.984 superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glycos_transf_2 superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glycos_transf_2,superfamily_Ricin B-like lectins,HMMPfam_Ricin_B_lectin,HMMSmart_SM00458 - no_errors ELP4 26610 genome.wustl.edu 36 11 31487972 31487972 + Missense_Mutation SNP G G C novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 11 31487972 31487972 G C SNP ELP4 NM_019040 human genbank 54_36p +1 reviewed missense c.65 p.S22T 0.014 NULL HMMPfam_PAXNEB - no_errors LARGE 9215 genome.wustl.edu 36 22 32030283 32030283 + Silent SNP G G A novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 22 32030283 32030283 G A SNP LARGE NM_004737 human genbank 54_36p -1 reviewed silent c.1662 p.I554 1.000 NULL superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glyco_transf_8 - no_errors NRG1 3084 genome.wustl.edu 36 8 32591584 32591584 + Silent SNP T T G novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 8 32591584 32591584 T G SNP NRG1 NM_013956 human genbank 54_36p +1 reviewed silent c.411 p.T137 0.851 NULL superfamily_SSF48726,HMMSmart_IGc2,HMMPfam_ig,superfamily_SSF57196,HMMSmart_EGF,HMMPfam_EGF,PatternScan_EGF_1,HMMPfam_Neuregulin - no_errors MMP24 10893 genome.wustl.edu 36 20 33303174 33303174 + Missense_Mutation SNP G G A novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 20 33303174 33303174 G A SNP MMP24 NM_006690 human genbank 54_36p +1 reviewed missense c.298 p.V100I 0.910 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ADC 113451 genome.wustl.edu 36 1 33356180 33356180 + Missense_Mutation SNP C C T novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 1 33356180 33356180 C T SNP ADC NM_052998 human genbank 54_36p +1 validated missense c.1120 p.P374S 1.000 superfamily_Alanine racemase C-terminal domain-like,HMMPfam_Orn_DAP_Arg_deC HMMPfam_Orn_Arg_deC_N,superfamily_PLP-binding barrel,PatternScan_ODR_DC_2_1,PatternScan_ODR_DC_2_2,superfamily_Alanine racemase C-terminal domain-like,HMMPfam_Orn_DAP_Arg_deC - no_errors KCNU1 0 genome.wustl.edu 36 8 36909635 36909635 + Missense_Mutation SNP G G T novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 8 36909635 36909635 G T SNP KCNU1 NM_001031836 human genbank 54_36p +1 validated missense c.2971 p.D991Y 0.520 NULL superfamily_SSF81324,HMMPfam_Ion_trans,superfamily_NAD(P)-bd,HMMPfam_BK_channel_a - no_errors DDX17 10521 genome.wustl.edu 36 22 37213903 37213903 + Silent SNP C C T novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 22 37213903 37213903 C T SNP DDX17 NM_001098504 human genbank 54_36p -1 reviewed silent c.1611 p.L537 0.891 superfamily_P-loop containing nucleoside triphosphate hydrolases superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,PatternScan_DEAD_ATP_HELICASE,HMMSmart_SM00490,HMMPfam_Helicase_C - no_errors CACNA1I 8911 genome.wustl.edu 36 22 38366939 38366939 + Missense_Mutation SNP G G A novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 22 38366939 38366939 G A SNP CACNA1I NM_021096 human genbank 54_36p +1 reviewed missense c.862 p.E288K 1.000 superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans - no_errors ATP4A 495 genome.wustl.edu 36 19 40745314 40745314 + Missense_Mutation SNP G G A novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 19 40745314 40745314 G A SNP ATP4A NM_000704 human genbank 54_36p -1 reviewed missense c.283 p.R95W 0.016 HMMPfam_Cation_ATPase_N,superfamily_SSF81665 HMMPfam_H-K_ATPase_N,HMMPfam_Cation_ATPase_N,superfamily_SSF81665,HMMPfam_E1-E2_ATPase,superfamily_SSF81653,superfamily_SSF56784,HMMPfam_Hydrolase,PatternScan_ATPASE_E1_E2,superfamily_SSF81660,HMMPfam_Cation_ATPase_C - no_errors HECW1 23072 genome.wustl.edu 36 7 43450772 43450772 + Silent SNP G G A novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 7 43450772 43450772 G A SNP HECW1 NM_015052 human genbank 54_36p +1 validated silent c.1476 p.T492 0.000 NULL HMMSmart_C2,superfamily_C2_CaLB,HMMPfam_C2,superfamily_WW_Rsp5_WWP,HMMSmart_WW,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_HECT,HMMSmart_HECTc,HMMPfam_HECT - no_errors SNTG1 54212 genome.wustl.edu 36 8 51513713 51513713 + Splice_Site SNP G G T novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 8 51513713 51513713 G T SNP SNTG1 NM_018967 human genbank 54_36p +1 reviewed splice_site c.219+1 e3+1 1.000 - - - no_errors LOC100129708 0 genome.wustl.edu 36 X 51681678 51681678 + RNA SNP C C A novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae X 51681678 51681678 C A SNP LOC100129708 XR_042332 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene GPR32 2854 genome.wustl.edu 36 19 55966663 55966663 + Missense_Mutation SNP A A C novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 19 55966663 55966663 A C SNP GPR32 NM_001506 human genbank 54_36p +1 provisional missense c.994 p.T332P 0.010 superfamily_SSF81321 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors SERPINB8 5271 genome.wustl.edu 36 18 59801820 59801820 + Missense_Mutation SNP G G C novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 18 59801820 59801820 G C SNP SERPINB8 NM_002640 human genbank 54_36p +1 validated missense c.452 p.G151A 0.688 HMMPfam_Serpin,superfamily_Prot_inh_serpin,HMMSmart_SERPIN HMMPfam_Serpin,superfamily_Prot_inh_serpin,HMMSmart_SERPIN,PatternScan_SERPIN - no_errors NRXN2 9379 genome.wustl.edu 36 11 64172347 64172347 + Missense_Mutation SNP T T G novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 11 64172347 64172347 T G SNP NRXN2 NM_015080 human genbank 54_36p -1 reviewed missense c.3323 p.Q1108P 1.000 superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00181,HMMPfam_EGF superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,HMMSmart_SM00181,HMMPfam_EGF,HMMSmart_SM00294 - no_errors ABCA8 10351 genome.wustl.edu 36 17 64383098 64383098 + Missense_Mutation SNP C C G novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 17 64383098 64383098 C G SNP ABCA8 NM_007168 human genbank 54_36p -1 reviewed missense c.4409 p.G1470A 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran - no_errors CYP7B1 9420 genome.wustl.edu 36 8 65691054 65691054 + Missense_Mutation SNP C C T novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 8 65691054 65691054 C T SNP CYP7B1 NM_004820 human genbank 54_36p -1 reviewed missense c.598 p.V200I 0.001 superfamily_Cytochrome P450 superfamily_Cytochrome P450,HMMPfam_p450 - no_errors LBXCOR1 390598 genome.wustl.edu 36 15 65912595 65912595 + Missense_Mutation SNP A A G novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 15 65912595 65912595 A G SNP LBXCOR1 NM_001031807 human genbank 54_36p +1 provisional missense c.2617 p.N873D 1.000 NULL HMMPfam_Ski_Sno,superfamily_Putativ_DNA_bind,superfamily_SAND_like,HMMPfam_c-SKI_SMAD_bind - no_errors ENSG00000188463 0 genome.wustl.edu 36 7 71915885 71915885 + Missense_Mutation SNP C C A novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 7 71915885 71915885 C A SNP ENSG00000188463 ENST00000389196 human ensembl 54_36p -1 known missense c.433 p.V145F 1.000 HMMPfam_Flavodoxin_1,superfamily_SSF52218 HMMPfam_Flavodoxin_1,superfamily_SSF52218 - no_errors DIS3 22894 genome.wustl.edu 36 13 72243228 72243228 + Silent SNP G G A novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 13 72243228 72243228 G A SNP DIS3 NM_014953 human genbank 54_36p -1 validated silent c.1662 p.D554 0.993 HMMPfam_RNB superfamily_PIN domain-like,HMMSmart_SM00670,HMMPfam_RNB,PatternScan_RIBONUCLEASE_II - no_errors KCNQ5 56479 genome.wustl.edu 36 6 73843828 73843828 + Missense_Mutation SNP G G A novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 6 73843828 73843828 G A SNP KCNQ5 NM_019842 human genbank 54_36p +1 reviewed missense c.679 p.A227T 1.000 superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_KCNQ_channel - no_errors RASGRF1 5923 genome.wustl.edu 36 15 77137781 77137781 + Missense_Mutation SNP G G A novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 15 77137781 77137781 G A SNP RASGRF1 NM_002891 human genbank 54_36p -1 reviewed missense c.481 p.R161W 1.000 NULL superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_IQ,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,PatternScan_DH_1,superfamily_Ras GEF,HMMSmart_SM00229,HMMPfam_RasGEF_N,HMMSmart_SM00147,HMMPfam_RasGEF,PatternScan_RASGEF - no_errors C11orf67 28971 genome.wustl.edu 36 11 77258487 77258487 + Silent SNP C C T novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 11 77258487 77258487 C T SNP C11orf67 NM_024684 human genbank 54_36p +1 predicted silent c.204 p.G68 1.000 superfamily_Hypothetical protein MT938 (MTH938),HMMPfam_DUF498 superfamily_Hypothetical protein MT938 (MTH938),HMMPfam_DUF498 - no_errors FLJ25770 339965 genome.wustl.edu 36 4 77491926 77491926 + Missense_Mutation SNP A A T novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 4 77491926 77491926 A T SNP FLJ25770 NM_001042784 human genbank 54_36p -1 validated missense c.2509 p.L837I 0.999 NULL NULL - no_errors TYR 7299 genome.wustl.edu 36 11 88668071 88668071 + Silent SNP A A G novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 11 88668071 88668071 A G SNP TYR NM_000372 human genbank 54_36p +1 reviewed silent c.1479 p.A493 0.000 NULL superfamily_Di-copper centre-containing domain,PatternScan_EGF_1,PatternScan_EGF_LAM_1,HMMPfam_Tyrosinase,PatternScan_TYROSINASE_1,PatternScan_TYROSINASE_2 - no_errors SERPINA4 5267 genome.wustl.edu 36 14 94105588 94105588 + Missense_Mutation SNP T T A novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 14 94105588 94105588 T A SNP SERPINA4 NM_006215 human genbank 54_36p +1 provisional missense c.1187 p.I396N 0.000 superfamily_Prot_inh_serpin,HMMPfam_Serpin,HMMSmart_SERPIN superfamily_Prot_inh_serpin,HMMPfam_Serpin,HMMSmart_SERPIN,PatternScan_SERPIN - no_errors OR4F13P 0 genome.wustl.edu 36 15 100206948 100206948 + Missense_Mutation SNP T T C novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 15 100206948 100206948 T C SNP OR4F13P ENST00000369688 human ensembl 54_36p +1 known missense c.460 p.Y154H 0.068 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors MYH15 22989 genome.wustl.edu 36 3 109646218 109646218 + Missense_Mutation SNP G G A novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 3 109646218 109646218 G A SNP MYH15 NM_014981 human genbank 54_36p -1 validated missense c.2674 p.L892F 0.885 NULL HMMPfam_Myosin_N,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,superfamily_Prefoldin,HMMPfam_Myosin_tail_1,superfamily_Spectrin repeat - no_errors LOC441034 441034 genome.wustl.edu 36 4 113929233 113929233 + RNA SNP G G T novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 4 113929233 113929233 G T SNP LOC441034 XR_016809 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene ENPP2 5168 genome.wustl.edu 36 8 120702939 120702939 + Silent SNP G G T novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 8 120702939 120702939 G T SNP ENPP2 NM_006209 human genbank 54_36p -1 reviewed silent c.294 p.A98 0.991 HMMSmart_SM00201,HMMPfam_Somatomedin_B HMMSmart_SM00201,HMMPfam_Somatomedin_B,superfamily_Somatomedin B domain,PatternScan_SMB_1,superfamily_Alkaline phosphatase-like,HMMPfam_Phosphodiest,superfamily_His-Me finger endonucleases,HMMSmart_SM00477,HMMPfam_Endonuclease_NS - no_errors SPAM1 6677 genome.wustl.edu 36 7 123381080 123381080 + Missense_Mutation SNP T T C novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 7 123381080 123381080 T C SNP SPAM1 NM_003117 human genbank 54_36p +1 reviewed missense c.220 p.S74P 0.087 HMMPfam_Glyco_hydro_56,superfamily_Glyco_hydro_cat HMMPfam_Glyco_hydro_56,superfamily_Glyco_hydro_cat - no_errors THSD7B 80731 genome.wustl.edu 36 2 138116624 138116624 + Missense_Mutation SNP C C G novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 2 138116624 138116624 C G SNP THSD7B NM_001080427 human genbank 54_36p +1 provisional missense c.3809 p.T1270S 0.997 HMMSmart_SM00209,HMMPfam_TSP_1,superfamily_TSP-1 type 1 repeat superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1 - no_errors ZNF251 90987 genome.wustl.edu 36 8 145918478 145918478 + Missense_Mutation SNP T T C novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 8 145918478 145918478 T C SNP ZNF251 NM_138367 human genbank 54_36p -1 validated missense c.1376 p.K459R 0.996 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 CNTNAP2 26047 genome.wustl.edu 36 7 146460324 146460324 + Missense_Mutation SNP G G A novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 7 146460324 146460324 G A SNP CNTNAP2 NM_014141 human genbank 54_36p +1 reviewed missense c.1138 p.A380T 1.000 superfamily_Concanavalin A-like lectins/glucanases HMMSmart_SM00231,superfamily_Galactose-binding domain-like,HMMPfam_F5_F8_type_C,PatternScan_FA58C_1,PatternScan_FA58C_2,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,HMMSmart_SM00181,HMMPfam_EGF,superfamily_Fibrinogen C-terminal domain-like,PatternScan_GLYCO_HORMONE_BETA_1,HMMSmart_SM00294 - no_errors NBPF15 284565 genome.wustl.edu 36 1 146849054 146849054 + Nonsense_Mutation SNP C C T novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 1 146849054 146849054 C T SNP NBPF15 NM_173638 human genbank 54_36p +1 predicted nonsense c.664 p.Q222* 0.016 HMMPfam_DUF1220 HMMPfam_DUF1220 - no_errors MBNL1 4154 genome.wustl.edu 36 3 153633244 153633244 + Missense_Mutation SNP G G T novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 3 153633244 153633244 G T SNP MBNL1 NM_207293 human genbank 54_36p +1 validated missense c.394 p.A132S 1.000 NULL HMMPfam_zf-CCCH,HMMSmart_SM00356,superfamily_CCCH zinc finger - no_errors BAZ2B 29994 genome.wustl.edu 36 2 160018421 160018421 + Missense_Mutation SNP G G C novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 2 160018421 160018421 G C SNP BAZ2B NM_013450 human genbank 54_36p -1 validated missense c.283 p.L95V 1.000 NULL superfamily_DNA-binding domain,HMMPfam_MBD,HMMSmart_SM00391,HMMPfam_DDT,HMMSmart_SM00571,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1 - no_errors uc003mag.2 0 genome.wustl.edu 36 5 169242985 169242985 + Missense_Mutation SNP C G G novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 5 169242985 169242985 C G SNP uc003mag.2 ENST00000377365 human ensembl 54_36p -1 known missense c.496 p.V166L 0.000 NULL NULL - no_errors TTN 7273 genome.wustl.edu 36 2 179194549 179194549 + Missense_Mutation SNP G G A novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 2 179194549 179194549 G A SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.33193 p.R11065W 0.886 superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,HMMPfam_Titin_Z,HMMSmart_SM00406,PatternScan_IG_MHC,HMMPfam_PPAK,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,PatternScan_FGGY_KINASES_1,PatternScan_PEROXIDASE_1,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_TYR - no_errors LHX9 56956 genome.wustl.edu 36 1 196155912 196155912 + Missense_Mutation SNP A A G novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 1 196155912 196155912 A G SNP LHX9 NM_020204 human genbank 54_36p +1 reviewed missense c.362 p.K121R 1.000 HMMSmart_SM00132,HMMPfam_LIM,superfamily_Glucocorticoid receptor-like (DNA-binding domain) superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1 - no_errors PGAP1 80055 genome.wustl.edu 36 2 197463811 197463811 + Missense_Mutation SNP G G T novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 2 197463811 197463811 G T SNP PGAP1 NM_024989 human genbank 54_36p -1 validated missense c.1159 p.Q387K 1.000 NULL HMMPfam_PGAP1,superfamily_alpha/beta-Hydrolases - no_errors RPS6KC1 26750 genome.wustl.edu 36 1 211481670 211481670 + Missense_Mutation SNP C C T novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 1 211481670 211481670 C T SNP RPS6KC1 NM_012424 human genbank 54_36p +1 validated missense c.2228 p.A743V 0.000 NULL superfamily_PX domain,HMMPfam_PX,HMMSmart_SM00312,HMMSmart_SM00745,HMMPfam_MIT,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,HMMPfam_Pkinase - no_errors PECR 55825 genome.wustl.edu 36 2 216639486 216639486 + Missense_Mutation SNP C C T novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 2 216639486 216639486 C T SNP PECR NM_018441 human genbank 54_36p -1 validated missense c.125 p.G42E 0.990 superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_adh_short superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_adh_short - no_errors OBSCN 84033 genome.wustl.edu 36 1 226546250 226546250 + Silent SNP G G A novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 1 226546250 226546250 G A SNP OBSCN NM_001098623 human genbank 54_36p +1 reviewed silent c.10368 p.L3456 0.966 superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409 superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00406,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,HMMPfam_V-set,HMMSmart_SM00015,HMMPfam_IQ,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_Protein kinase-like (PK-like),PatternScan_GLYCOSYL_HYDROL_F5,HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,PatternScan_PROTEIN_KINASE_TYR - no_errors LRRN4 164312 genome.wustl.edu 36 20 5969808 5969809 + In_Frame_Ins INS - - CAA novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 20 5969808 5969809 - CAA INS LRRN4 NM_152611 human genbank 54_36p -1 validated in_frame_ins c.2083_2082 p.695in_frame_insL 0.610:0.609 NULL superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00060,HMMPfam_fn3,superfamily_Fibronectin type III - no_errors DOPEY2 9980 genome.wustl.edu 36 21 36525012 36525012 + Frame_Shift_Del DEL T T - novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 21 36525012 36525012 T - DEL DOPEY2 NM_005128 human genbank 54_36p +1 validated frame_shift_del c.2060 p.I687fs 0.993 NULL HMMPfam_Dopey_N (deletion:cds_exon[36524618,36525302]) no_errors NIPBL 25836 genome.wustl.edu 36 5 37022110 37022110 + Frame_Shift_Del DEL C C - novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 5 37022110 37022110 C - DEL NIPBL NM_133433 human genbank 54_36p +1 reviewed frame_shift_del c.3071 p.S1024fs 1.000 superfamily_ARM repeat superfamily_ARM repeat (deletion:cds_exon[37020535,37022160]) no_errors IRF5 3663 genome.wustl.edu 36 7 128374588 128374617 + Splice_Site DEL ACTCTGCAGCCGCCCACTCTGCGGCCGCCT ACTCTGCAGCCGCCCACTCTGCGGCCGCCT - novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 ACTCTGCAGCCGCCCACTCTGCGGCCGCCT ACTCTGCAGCCGCCCACTCTGCGGCCGCCT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 7 128374588 128374617 ACTCTGCAGCCGCCCACTCTGCGGCCGCCT - DEL IRF5 NM_002200 human genbank 54_36p +1 reviewed splice_site_del c.541+9_541+1 e6-1 0.714:0.698:0.682:0.666:0.650:0.635:0.620:0.605:0.590:0.575:0.561:0.546:0.532:0.517:0.503:0.489:0.475:0.461:0.447:0.433:0.419:0.405:0.391:0.377:0.363:0.349:0.335:0.321:0.306:0.292 - - (deletion:intron[128374580,128374609], cds_exon[128374610,128374825]) no_errors LOC732043 732043 genome.wustl.edu 36 2 130902082 130902083 + RNA INS - - TTG novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 2 130902082 130902083 - TTG INS LOC732043 XR_037773 human genbank 54_36p +1 model rna NULL NULL 0.000:0.000 - - - pseudogene PDLIM4 8572 genome.wustl.edu 36 5 131634585 131634585 + Frame_Shift_Del DEL C C - novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 5 131634585 131634585 C - DEL PDLIM4 NM_003687 human genbank 54_36p +1 validated frame_shift_del c.406 p.P136fs 0.033 NULL superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM (deletion:cds_exon[131634507,131634685]) no_errors ENSG00000201699 0 genome.wustl.edu 36 1 143245544 143245545 + RNA DEL CG CG - novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 CG CG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 1 143245544 143245545 CG - DEL ENSG00000201699 ENST00000364829 human ensembl 54_36p +1 known rna NULL NULL 1.000:1.000 - - (deletion:rna[143245395,143245556]) no_errors CHN1 1123 genome.wustl.edu 36 2 175450826 175450826 + Frame_Shift_Del DEL C C - novel unknown TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8e2d1757-2105-4177-9215-e3cac155e7c9 8f168457-3a7e-4b59-9079-662580a8b8ae 2 175450826 175450826 C - DEL CHN1 NM_001025201 human genbank 54_36p -1 reviewed frame_shift_del c.537 p.S180fs 0.551 superfamily_Cysteine-rich domain superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2,superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP (deletion:cds_exon[175450814,175451102]) no_errors