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 ABCB7 22 broad.mit.edu 36 X 74211977 74211977 + Missense_Mutation SNP A A G novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 68b5ce1f-627d-4035-9c77-625d84ec9328 1487179e-2125-46a3-9cf4-5a0a233ccbc0 X 74211977 74211977 A G SNP ABCB7 NM_004299 human genbank 54_36p -1 reviewed missense c.803 p.L268S 1 superfamily_ABC_TM_1,HMMPfam_ABC_membrane superfamily_ABC_TM_1,HMMPfam_ABC_membrane,superfamily_SSF52540,HMMSmart_AAA,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1 - no_errors AHNAK 79026 broad.mit.edu 36 11 62045707 62045707 + Missense_Mutation SNP T T C novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 68b5ce1f-627d-4035-9c77-625d84ec9328 1487179e-2125-46a3-9cf4-5a0a233ccbc0 11 62045707 62045707 T C SNP AHNAK NM_001620 human genbank 54_36p -1 validated missense c.12758 p.K4253R 1 NULL HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ,HMMPfam_CheC - no_errors AP2A2 161 broad.mit.edu 36 11 984220 984220 + Missense_Mutation SNP C C G novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 68b5ce1f-627d-4035-9c77-625d84ec9328 1487179e-2125-46a3-9cf4-5a0a233ccbc0 11 984220 984220 C G SNP AP2A2 NM_012305 human genbank 54_36p 1 validated missense c.1931 p.P644R 0.91 NULL superfamily_ARM repeat,HMMPfam_Adaptin_N,superfamily_Clathrin adaptor appendage domain,HMMPfam_Alpha_adaptinC2,HMMSmart_SM00809,HMMPfam_Alpha_adaptin_C,superfamily_Subdomain of clathrin and coatomer appendage domain - no_errors AP2B1 163 broad.mit.edu 36 17 30993078 30993078 + Missense_Mutation SNP G G A novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 68b5ce1f-627d-4035-9c77-625d84ec9328 1487179e-2125-46a3-9cf4-5a0a233ccbc0 17 30993078 30993078 G A SNP AP2B1 NM_001030006 human genbank 54_36p 1 reviewed missense c.1507 p.V503I 1 superfamily_ARM repeat,HMMPfam_Adaptin_N superfamily_ARM repeat,HMMPfam_Adaptin_N,HMMSmart_SM00185,superfamily_Clathrin adaptor appendage domain,HMMSmart_SM00809,HMMPfam_Alpha_adaptinC2,superfamily_Subdomain of clathrin and coatomer appendage domain,HMMPfam_B2-adapt-app_C - no_errors APC 324 broad.mit.edu 36 5 112204836 112204836 + Missense_Mutation SNP A A T novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 68b5ce1f-627d-4035-9c77-625d84ec9328 1487179e-2125-46a3-9cf4-5a0a233ccbc0 5 112204836 112204836 A T SNP APC NM_000038 human genbank 54_36p 1 reviewed missense c.5646 p.R1882S 1 NULL HMMPfam_Arm,HMMSmart_SM00185,HMMPfam_APC_crr,HMMPfam_SAMP,HMMPfam_EB1_binding,HMMPfam_APC_basic,HMMPfam_APC_15aa,superfamily_ARM repeat - no_errors ARSJ 79642 broad.mit.edu 36 4 115043506 115043506 + Silent SNP C C T novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 68b5ce1f-627d-4035-9c77-625d84ec9328 1487179e-2125-46a3-9cf4-5a0a233ccbc0 4 115043506 115043506 C T SNP ARSJ NM_024590 human genbank 54_36p -1 validated silent c.1173 p.Q391 0.99 HMMPfam_Sulfatase,superfamily_Alkaline phosphatase-like HMMPfam_Sulfatase,superfamily_Alkaline phosphatase-like,PatternScan_SULFATASE_1,PatternScan_SULFATASE_2 - no_errors CFTR 1080 broad.mit.edu 36 7 116969347 116969347 + Missense_Mutation SNP C C G novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 68b5ce1f-627d-4035-9c77-625d84ec9328 1487179e-2125-46a3-9cf4-5a0a233ccbc0 7 116969347 116969347 C G SNP CFTR NM_000492 human genbank 54_36p 1 reviewed missense c.1158 p.N386K 1 superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain 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 EHD3 30845 broad.mit.edu 36 2 31337004 31337004 + Missense_Mutation SNP C C A novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 68b5ce1f-627d-4035-9c77-625d84ec9328 1487179e-2125-46a3-9cf4-5a0a233ccbc0 2 31337004 31337004 C A SNP EHD3 NM_014600 human genbank 54_36p 1 provisional missense c.627 p.N209K 1 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Dynamin_N superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Dynamin_N,superfamily_EF-hand,HMMSmart_SM00027,PatternScan_EF_HAND_1 - no_errors EPHA1 2041 broad.mit.edu 36 7 142808686 142808686 + Silent SNP G G A novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 68b5ce1f-627d-4035-9c77-625d84ec9328 1487179e-2125-46a3-9cf4-5a0a233ccbc0 7 142808686 142808686 G A SNP EPHA1 NM_005232 human genbank 54_36p -1 reviewed silent c.285 p.V95 0.46 HMMPfam_Ephrin_lbd,HMMSmart_SM00615,superfamily_Galactose-binding domain-like HMMPfam_Ephrin_lbd,HMMSmart_SM00615,HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,PatternScan_RECEPTOR_TYR_KIN_V_1,PatternScan_RECEPTOR_TYR_KIN_V_2,HMMPfam_SAM_1,HMMSmart_SM00454,HMMSmart_SM00220,HMMPfam_fn3,HMMSmart_SM00060,PatternScan_PROTEIN_KINASE_TYR,superfamily_Fibronectin type III,superfamily_Galactose-binding domain-like,superfamily_SAM/Pointed domain,superfamily_Protein kinase-like (PK-like),PatternScan_EGF_2,PatternScan_PROTEIN_KINASE_ATP - no_errors ERO1L 30001 broad.mit.edu 36 14 52189733 52189733 + Nonsense_Mutation SNP G G A novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 68b5ce1f-627d-4035-9c77-625d84ec9328 1487179e-2125-46a3-9cf4-5a0a233ccbc0 14 52189733 52189733 G A SNP ERO1L NM_014584 human genbank 54_36p -1 provisional nonsense c.859 p.R287* 1 superfamily_ERO1,HMMPfam_ERO1 superfamily_ERO1,HMMPfam_ERO1 - no_errors GPR173 54328 broad.mit.edu 36 X 53122815 53122815 + Missense_Mutation SNP G G T novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 68b5ce1f-627d-4035-9c77-625d84ec9328 1487179e-2125-46a3-9cf4-5a0a233ccbc0 X 53122815 53122815 G T SNP GPR173 NM_018969 human genbank 54_36p 1 validated missense c.287 p.C96F 1 HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like - no_errors KCNK18 338567 broad.mit.edu 36 10 118950726 118950726 + Missense_Mutation SNP G G T novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 68b5ce1f-627d-4035-9c77-625d84ec9328 1487179e-2125-46a3-9cf4-5a0a233ccbc0 10 118950726 118950726 G T SNP KCNK18 NM_181840 human genbank 54_36p 1 provisional missense c.290 p.R97M 0 superfamily_SSF81324,HMMPfam_Ion_trans_2 superfamily_SSF81324,HMMPfam_Ion_trans_2 - no_errors KNTC1 9735 broad.mit.edu 36 12 121655545 121655548 + Frame_Shift_Del DEL ATCA - ATCA novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 ATCA ATCA Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 68b5ce1f-627d-4035-9c77-625d84ec9328 1487179e-2125-46a3-9cf4-5a0a233ccbc0 12 121655545 121655548 ATCA - DEL KNTC1 NM_014708 human genbank 54_36p 1 reviewed frame_shift_del c.5344_5347 p.N1783fs 0.921:0.910:0.010:0.009 HMMPfam_Rod_C HMMPfam_Rod_C,PatternScan_BZIP_BASIC (deletion:cds_exon[121655377,121655587]) no_errors LAMB1 3912 broad.mit.edu 36 7 107403508 107403508 + Missense_Mutation SNP A A G novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 68b5ce1f-627d-4035-9c77-625d84ec9328 1487179e-2125-46a3-9cf4-5a0a233ccbc0 7 107403508 107403508 A G SNP LAMB1 NM_002291 human genbank 54_36p -1 reviewed missense c.1051 p.Y351H 0.35 HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,HMMSmart_SM00181,HMMPfam_Laminin_N,HMMSmart_SM00136,superfamily_Prefoldin,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_EGF/Laminin - no_errors LTV1 84946 broad.mit.edu 36 6 144208937 144208937 + Silent SNP C C T novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 68b5ce1f-627d-4035-9c77-625d84ec9328 1487179e-2125-46a3-9cf4-5a0a233ccbc0 6 144208937 144208937 C T SNP LTV1 NM_032860 human genbank 54_36p 1 provisional silent c.192 p.D64 1 HMMPfam_LTV HMMPfam_LTV - no_errors MAPK12 6300 broad.mit.edu 36 22 49035898 49035898 + Silent SNP C C T novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 68b5ce1f-627d-4035-9c77-625d84ec9328 1487179e-2125-46a3-9cf4-5a0a233ccbc0 22 49035898 49035898 C T SNP MAPK12 NM_002969 human genbank 54_36p -1 reviewed silent c.879 p.V293 0.99 superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_MAPK - no_errors NRXN2 9379 broad.mit.edu 36 11 64209946 64209946 + Silent SNP G G A novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 68b5ce1f-627d-4035-9c77-625d84ec9328 1487179e-2125-46a3-9cf4-5a0a233ccbc0 11 64209946 64209946 G A SNP NRXN2 NM_015080 human genbank 54_36p -1 reviewed silent c.900 p.Y300 1 superfamily_Concanavalin A-like lectins/glucanases HMMSmart_SM00282,HMMSmart_SM00294,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 - no_errors NUP205 23165 broad.mit.edu 36 7 134938258 134938258 + Missense_Mutation SNP C C T novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 68b5ce1f-627d-4035-9c77-625d84ec9328 1487179e-2125-46a3-9cf4-5a0a233ccbc0 7 134938258 134938258 C T SNP NUP205 NM_015135 human genbank 54_36p 1 validated missense c.2678 p.A893V 1 NULL NULL - no_errors OR11G2 390439 broad.mit.edu 36 14 19735929 19735929 + Missense_Mutation SNP G G A novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 68b5ce1f-627d-4035-9c77-625d84ec9328 1487179e-2125-46a3-9cf4-5a0a233ccbc0 14 19735929 19735929 G A SNP OR11G2 NM_001005503 human genbank 54_36p 1 provisional missense c.595 p.V199I 0 HMMPfam_7tm_1,superfamily_SSF81321 HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 - no_errors OR2B11 127623 broad.mit.edu 36 1 245681128 245681128 + Silent SNP A A T novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 68b5ce1f-627d-4035-9c77-625d84ec9328 1487179e-2125-46a3-9cf4-5a0a233ccbc0 1 245681128 245681128 A T SNP OR2B11 NM_001004492 human genbank 54_36p -1 provisional silent c.780 p.I260 0.98 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors PAPD7 11044 broad.mit.edu 36 5 6804185 6804185 + Missense_Mutation SNP G G A novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 68b5ce1f-627d-4035-9c77-625d84ec9328 1487179e-2125-46a3-9cf4-5a0a233ccbc0 5 6804185 6804185 G A SNP POLS NM_006999 human genbank 54_36p 1 reviewed missense c.1144 p.V382I 0.97 NULL HMMPfam_PAP_assoc,HMMPfam_NTP_transf_2,superfamily_Nucleotidyltransferase,superfamily_PAP/OAS1 substrate-binding domain - no_errors PAX6 5080 broad.mit.edu 36 11 31772162 31772162 + Silent SNP T T C novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 68b5ce1f-627d-4035-9c77-625d84ec9328 1487179e-2125-46a3-9cf4-5a0a233ccbc0 11 31772162 31772162 T C SNP PAX6 NM_001604 human genbank 54_36p -1 reviewed silent c.801 p.R267 1 superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1 HMMPfam_PAX,HMMSmart_PAX,superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1 - no_errors PCDHB11 56125 broad.mit.edu 36 5 140560913 140560913 + Missense_Mutation SNP G G A novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 68b5ce1f-627d-4035-9c77-625d84ec9328 1487179e-2125-46a3-9cf4-5a0a233ccbc0 5 140560913 140560913 G A SNP PCDHB11 NM_018931 human genbank 54_36p 1 reviewed missense c.1382 p.R461H 0 HMMPfam_Cadherin,superfamily_Cadherin HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin - no_errors PKHD1 5314 broad.mit.edu 36 6 52049080 52049080 + Missense_Mutation SNP G G A novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 68b5ce1f-627d-4035-9c77-625d84ec9328 1487179e-2125-46a3-9cf4-5a0a233ccbc0 6 52049080 52049080 G A SNP PKHD1 NM_138694 human genbank 54_36p -1 reviewed missense c.401 p.A134V 0.84 NULL HMMPfam_TIG,HMMSmart_SM00429,HMMSmart_SM00710,superfamily_Pectin lyase-like,superfamily_E set domains,HMMPfam_G8 - no_errors RASGRF2 5924 broad.mit.edu 36 5 80399737 80399737 + Missense_Mutation SNP G G A novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 68b5ce1f-627d-4035-9c77-625d84ec9328 1487179e-2125-46a3-9cf4-5a0a233ccbc0 5 80399737 80399737 G A SNP RASGRF2 NM_006909 human genbank 54_36p 1 validated missense c.526 p.E176K 1 NULL superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_IQ,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_Ras GEF,HMMSmart_SM00229,HMMPfam_RasGEF_N,HMMSmart_SM00147,HMMPfam_RasGEF,PatternScan_RASGEF - no_errors RFPL2 10739 broad.mit.edu 36 22 30916896 30916896 + Missense_Mutation SNP C C T novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 68b5ce1f-627d-4035-9c77-625d84ec9328 1487179e-2125-46a3-9cf4-5a0a233ccbc0 22 30916896 30916896 C T SNP RFPL2 NM_006605 human genbank 54_36p -1 validated missense c.817 p.V273I 0 HMMPfam_SPRY,HMMSmart_SM00449 superfamily_RING/U-box,HMMPfam_zf-C3HC4,HMMSmart_SM00589,HMMPfam_SPRY,HMMSmart_SM00449 - no_errors SETDB1 9869 broad.mit.edu 36 1 149190067 149190067 + Missense_Mutation SNP T T C novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 68b5ce1f-627d-4035-9c77-625d84ec9328 1487179e-2125-46a3-9cf4-5a0a233ccbc0 1 149190067 149190067 T C SNP SETDB1 NM_012432 human genbank 54_36p 1 reviewed missense c.2090 p.I697T 1 superfamily_SSF82199,HMMSmart_PreSET,HMMPfam_Pre-SET HMMSmart_TUDOR,HMMPfam_MBD,superfamily_DNA-binding_integrase-type,HMMSmart_MBD,superfamily_SSF82199,HMMSmart_PreSET,HMMPfam_Pre-SET,HMMPfam_SET,HMMSmart_SET,HMMSmart_PostSET - no_errors SLC25A23 79085 broad.mit.edu 36 19 6407446 6407446 + Missense_Mutation SNP G G C novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 68b5ce1f-627d-4035-9c77-625d84ec9328 1487179e-2125-46a3-9cf4-5a0a233ccbc0 19 6407446 6407446 G C SNP SLC25A23 NM_024103 human genbank 54_36p -1 validated missense c.468 p.F156L 1 superfamily_EF-hand superfamily_Mitochondrial carrier,HMMSmart_SM00054,HMMPfam_Mito_carr,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_EF-hand - no_errors STOX2 56977 broad.mit.edu 36 4 185168075 185168075 + Missense_Mutation SNP C C T novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 68b5ce1f-627d-4035-9c77-625d84ec9328 1487179e-2125-46a3-9cf4-5a0a233ccbc0 4 185168075 185168075 C T SNP STOX2 NM_020225 human genbank 54_36p 1 provisional missense c.1090 p.R364W 0.88 NULL HMMPfam_Stork_head - no_errors TEP1 7011 broad.mit.edu 36 14 19939105 19939105 + Missense_Mutation SNP C C T novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 68b5ce1f-627d-4035-9c77-625d84ec9328 1487179e-2125-46a3-9cf4-5a0a233ccbc0 14 19939105 19939105 C T SNP TEP1 NM_007110 human genbank 54_36p -1 reviewed missense c.1427 p.R476H 1 HMMPfam_TROVE HMMSmart_SM00320,HMMPfam_NACHT,HMMPfam_TEP1_N,HMMPfam_TROVE,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors TMEM139 135932 broad.mit.edu 36 7 142693871 142693871 + Missense_Mutation SNP C C G novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 68b5ce1f-627d-4035-9c77-625d84ec9328 1487179e-2125-46a3-9cf4-5a0a233ccbc0 7 142693871 142693871 C G SNP TMEM139 NM_153345 human genbank 54_36p 1 provisional missense c.478 p.P160A 0 NULL NULL - no_errors TP53 7157 broad.mit.edu 36 17 7518990 7518990 + Missense_Mutation SNP A A G novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 A A A G A A Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx 68b5ce1f-627d-4035-9c77-625d84ec9328 1487179e-2125-46a3-9cf4-5a0a233ccbc0 17 7518990 7518990 A G SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.584 p.I195T 1 superfamily_p53-like transcription factors,HMMPfam_P53 PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD - no_errors TRAF6 7189 broad.mit.edu 36 11 36468092 36468092 + Missense_Mutation SNP C C T novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 68b5ce1f-627d-4035-9c77-625d84ec9328 1487179e-2125-46a3-9cf4-5a0a233ccbc0 11 36468092 36468092 C T SNP TRAF6 NM_004620 human genbank 54_36p -1 reviewed missense c.1441 p.A481T 0.52 superfamily_Traf_like,HMMSmart_MATH,HMMPfam_MATH superfamily_SSF57850,HMMPfam_zf-C3HC4,HMMSmart_RING,PatternScan_ZF_RING_1,superfamily_Traf_like,HMMPfam_zf-TRAF,HMMSmart_MATH,HMMPfam_MATH - no_errors TRIOBP 11078 broad.mit.edu 36 22 36451808 36451808 + Missense_Mutation SNP C C T novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 68b5ce1f-627d-4035-9c77-625d84ec9328 1487179e-2125-46a3-9cf4-5a0a233ccbc0 22 36451808 36451808 C T SNP TRIOBP NM_001039141 human genbank 54_36p 1 reviewed missense c.3299 p.S1100F 0.95 NULL HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like - no_errors TTN 7273 broad.mit.edu 36 2 179225077 179225077 + Missense_Mutation SNP G G C novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 68b5ce1f-627d-4035-9c77-625d84ec9328 1487179e-2125-46a3-9cf4-5a0a233ccbc0 2 179225077 179225077 G C SNP TTN ENST00000356127 human ensembl 54_36p -1 known missense c.2371 p.P791A 1 NULL HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_PPAK,HMMPfam_I-set,HMMPfam_ig,PatternScan_FGGY_KINASES_1 - no_stop_codon TUBA3C 7278 broad.mit.edu 36 13 18649364 18649364 + Silent SNP C C T novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 68b5ce1f-627d-4035-9c77-625d84ec9328 1487179e-2125-46a3-9cf4-5a0a233ccbc0 13 18649364 18649364 C T SNP TUBA3C NM_006001 human genbank 54_36p -1 reviewed silent c.759 p.T253 0.96 superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C HMMPfam_Tubulin,superfamily_Tubulin C-terminal domain-like,PatternScan_TUBULIN,HMMPfam_Tubulin_C,superfamily_Tubulin nucleotide-binding domain-like - no_errors WSCD2 9671 broad.mit.edu 36 12 107166130 107166130 + Silent SNP C C T novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 68b5ce1f-627d-4035-9c77-625d84ec9328 1487179e-2125-46a3-9cf4-5a0a233ccbc0 12 107166130 107166130 C T SNP WSCD2 NM_014653 human genbank 54_36p 1 validated silent c.1578 p.L526 0.97 superfamily_P-loop containing nucleoside triphosphate hydrolases HMMPfam_WSC,HMMSmart_SM00321,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors ZC3H4 23211 broad.mit.edu 36 19 52285109 52285109 + Missense_Mutation SNP G G C novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 68b5ce1f-627d-4035-9c77-625d84ec9328 1487179e-2125-46a3-9cf4-5a0a233ccbc0 19 52285109 52285109 G C SNP ZC3H4 NM_015168 human genbank 54_36p -1 validated missense c.670 p.L224V 1 NULL HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1 - no_errors ZNF407 55628 broad.mit.edu 36 18 70475759 70475759 + Missense_Mutation SNP G G A novel Unknown TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx 68b5ce1f-627d-4035-9c77-625d84ec9328 1487179e-2125-46a3-9cf4-5a0a233ccbc0 18 70475759 70475759 G A SNP ZNF407 NM_017757 human genbank 54_36p 1 provisional missense c.3796 p.V1266I 0 NULL superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00451,superfamily_Glucocorticoid receptor-like (DNA-binding domain) - no_errors